ClinVar Miner

Variants studied for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele other not provided total
11550 9836 29303 33564 5271 10 1 1 518 83121

Gene and significance breakdown #

Total genes and gene combinations: 753
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele other not provided total
CACNA1A 182 93 980 1112 132 0 0 0 7 2449
GLDC 296 281 656 1093 65 0 0 0 4 2186
USH2A 340 582 744 186 93 0 0 0 4 1727
CPS1 145 181 391 1047 92 0 0 0 2 1721
ACADVL 309 380 597 686 32 0 0 0 2 1661
CRB1 309 149 498 725 34 0 0 0 1 1625
CHD2 178 78 620 685 81 0 0 0 4 1614
PAH 568 479 286 335 38 0 0 0 8 1357
PCCA 165 162 379 589 40 0 0 0 6 1223
SLC22A5 183 182 438 433 30 0 0 0 4 1102
CBS 150 186 301 530 52 0 0 0 6 1087
PCCB 143 152 341 515 18 0 0 0 16 1071
HCFC1 6 1 111 672 255 0 0 0 0 1032
TH 81 120 358 542 40 0 0 0 4 1030
IFT172 43 24 458 421 26 0 0 0 0 950
EYS 158 279 444 84 68 0 0 0 0 924
MTR 57 30 199 574 66 0 0 0 0 913
SLC6A8 81 47 174 503 123 0 0 0 10 901
CPT1A 77 89 215 503 33 0 0 0 25 877
HGSNAT 88 34 259 484 22 0 0 0 0 872
HLCS 89 110 265 430 50 0 0 0 0 865
ETFDH 149 154 232 362 21 0 0 0 0 827
RPE65 152 37 251 363 25 0 0 0 0 784
ACADM 228 212 203 267 36 0 0 0 2 780
ASL 125 145 151 420 36 0 0 0 3 776
MTRR 73 28 159 481 50 0 0 0 1 774
ADSL 55 29 501 181 31 0 0 0 3 772
PHGDH 71 28 256 429 24 0 0 0 0 761
ACSF3 106 110 185 404 48 0 0 0 0 759
MTHFR 136 53 162 413 38 0 0 0 3 741
ASS1 127 141 178 355 36 0 0 0 10 725
CTNS 116 88 197 324 60 0 0 0 7 723
MCCC1 117 94 252 305 26 0 0 0 1 719
SLC25A13 122 87 132 408 26 0 0 0 15 719
SLC6A1 70 54 221 307 78 0 0 0 17 713
DBT 92 87 221 311 55 0 0 0 0 709
DHTKD1 37 20 374 249 37 0 0 0 1 709
ABAT 21 22 313 291 70 0 0 0 1 688
IVD 79 118 181 334 38 0 0 0 0 678
BCKDHA 110 115 151 360 37 0 0 0 1 673
ACAT1 142 108 145 316 35 0 0 0 0 670
BCKDHB 136 122 156 293 50 0 0 0 3 670
SLC7A7 87 81 209 332 22 0 0 0 4 670
MCCC2 94 118 231 258 30 0 0 0 1 653
FAH 98 103 140 323 40 0 0 1 11 626
GCDH 186 157 115 276 12 0 0 0 10 624
AMT 76 82 187 317 13 0 0 0 3 608
SLC13A5 31 24 257 283 22 0 0 0 0 600
KCNB1 35 38 205 253 86 0 0 0 0 593
BTD 164 156 195 200 14 0 0 0 6 591
OCRL 64 27 106 312 47 0 0 0 32 567
OTC 150 98 104 207 44 0 0 0 0 567
NAGS 50 45 110 364 20 0 0 0 1 556
DLD 55 75 123 294 38 0 0 0 0 546
ALDH5A1 70 58 231 178 37 0 0 0 3 541
OAT 83 71 174 240 23 0 0 0 0 533
HGD 234 74 71 176 22 0 0 0 11 508
ALDH18A1 35 20 301 155 25 0 0 0 3 507
MMAA 81 58 179 201 22 0 0 0 16 507
DHDDS 16 18 214 251 9 0 0 0 0 493
CUBN 16 15 306 74 83 0 0 0 0 492
OPA3 8 14 286 146 36 0 0 0 5 482
GAREM2, HADHA 64 60 108 262 20 0 0 0 0 469
HMGCL 57 54 129 246 15 0 0 0 0 462
ARG1, MED23 74 58 144 207 8 0 0 0 1 461
ETFA 38 47 124 262 20 0 0 0 0 460
DNM1 12 11 153 246 41 0 0 0 0 459
GATM 16 13 223 192 23 0 0 0 3 451
CLPB 25 9 227 156 19 0 0 0 16 433
MMACHC 95 73 110 190 10 0 0 0 3 426
CRX 51 16 217 106 72 0 0 0 0 423
GAMT 58 45 171 191 11 0 0 0 7 421
HADHA 52 56 81 246 14 0 0 0 0 417
MMAB 61 39 152 177 36 0 0 0 12 415
LMBRD1 28 22 110 235 24 0 0 0 2 407
MLYCD 28 3 138 225 26 0 0 0 1 404
SLC25A15 51 34 125 189 27 0 0 0 8 397
MMUT 137 114 122 26 15 0 0 0 31 391
ACADS 43 75 208 104 24 0 1 0 4 388
GCH1 72 23 160 135 28 0 0 0 0 386
KCNA2 27 20 189 120 10 0 0 0 2 359
TAFAZZIN 45 47 142 141 10 0 0 0 0 358
EEF1A2 11 13 94 212 32 0 0 0 2 355
TAT 28 33 71 221 8 0 0 0 0 342
LIAS 20 8 151 123 11 0 0 0 4 308
PSAT1 25 9 150 117 16 0 0 0 0 306
RPGR 160 120 23 7 5 0 0 0 0 301
MMADHC 40 27 60 169 17 0 0 0 7 299
PRODH 21 6 115 124 47 0 0 0 0 291
HPD 22 9 58 195 25 0 0 0 0 288
ABCD4 18 10 116 112 33 0 0 0 0 279
CNGB1 27 35 167 27 39 0 0 0 1 275
ETFB 17 23 82 147 8 0 0 0 0 264
SLC25A20 46 27 91 107 7 0 0 0 0 263
QDPR 26 16 81 130 19 0 0 0 0 262
SERAC1 34 14 114 91 31 0 0 0 2 261
ACADSB 17 18 149 52 44 0 0 0 1 259
PCARE 22 18 151 23 49 0 0 0 0 259
HADH 13 11 79 148 11 0 0 0 0 250
AHCY 8 4 115 112 17 0 0 0 0 238
ALDH4A1 6 8 132 74 46 0 0 0 0 235
SLC3A1 43 25 125 47 17 0 0 0 0 230
PTS 58 49 54 103 7 0 0 0 0 227
SLC6A9 5 3 84 117 16 0 0 0 3 225
PDE6A 40 22 130 12 28 0 0 0 0 216
PDE6B 40 36 130 13 6 0 0 0 2 212
ARL6 26 9 77 99 4 0 0 0 0 210
HMGCS2 30 19 100 67 13 0 0 0 0 210
FAM161A 16 47 119 19 17 0 0 0 0 204
RHO 61 73 66 12 13 0 0 0 4 202
IBA57 26 9 86 69 9 0 0 0 0 196
ACAD8 21 15 113 48 15 0 0 0 1 194
RP1 50 41 78 20 15 0 0 0 0 190
IMPG2 20 7 134 10 15 0 0 0 0 185
SCN8A 33 67 60 4 10 0 0 0 38 185
IFT140 6 18 109 38 7 0 0 0 1 177
CDHR1 15 8 129 11 11 0 0 0 0 169
CERKL 28 61 77 12 15 0 0 0 0 166
ACAD9 25 64 58 23 20 0 0 0 0 164
ATP6V0A2 10 0 98 9 42 0 0 0 8 164
PRPF31 48 49 47 9 13 0 0 0 0 161
IFT172, KRTCAP3 11 7 74 68 7 0 0 0 0 160
PRPF8 14 8 87 24 30 0 0 0 1 158
AUH 17 7 81 52 9 0 0 0 0 157
PSPH 3 1 86 48 20 0 0 0 0 154
PROM1 24 8 103 3 13 0 0 0 3 151
ABCA4 73 45 25 0 20 0 0 0 3 149
CA5A 11 5 66 59 13 0 0 0 4 148
NECAP1 3 1 77 64 3 0 0 0 0 147
ALDH5A1, GPLD1, LOC129995978 18 2 67 56 3 0 0 0 0 145
RBP3 7 5 119 7 9 0 0 0 2 144
HIBCH 20 21 56 43 16 0 0 0 0 143
EYS, PHF3 43 60 56 9 3 0 0 0 0 142
PRPH2 25 28 54 16 35 0 0 0 1 140
IFT172, LOC126806173 9 3 68 56 5 0 0 0 1 138
GAMT, LOC130062945 25 15 59 49 1 0 0 0 1 137
GLUD1 11 5 72 42 14 0 0 0 0 133
MERTK 28 22 62 10 17 0 0 0 0 133
TYR 76 60 18 6 3 0 0 0 4 131
GCDH, LOC117125594 24 24 24 63 7 0 0 0 0 128
SNRNP200 11 10 75 24 17 0 0 0 0 127
NR2E3 14 17 68 24 10 0 0 0 0 121
CD320 1 1 65 37 19 0 0 0 0 120
HAL 0 0 92 12 11 4 0 0 0 119
SLC7A9 24 17 64 12 13 0 0 0 0 119
BBS2 19 9 61 26 7 0 0 0 0 118
SLC1A1 2 0 89 6 19 0 0 0 0 116
MAOA 6 1 46 47 13 0 0 0 0 113
DNAJC19 8 8 45 43 5 0 0 0 1 108
ALDH6A1, BBOF1 7 0 58 15 29 0 0 0 0 106
HGSNAT, LOC130000316 6 3 21 68 3 0 0 0 0 101
DNM1, LOC113839516 2 8 37 45 8 0 0 0 0 99
TTC8 6 23 58 10 3 0 0 0 0 99
SLC1A3 3 0 45 7 45 0 0 0 0 97
WWOX 24 14 30 1 30 0 0 0 1 97
IFT140, LOC105371046 12 9 51 23 5 0 0 0 0 96
MCEE 5 3 30 54 9 0 0 0 3 93
NFU1 4 5 50 29 9 0 0 0 0 92
PPM1K 1 0 55 26 9 0 0 0 0 90
CNGA1, LOC101927157 23 16 47 4 6 0 0 0 1 89
BCKDK 6 2 31 43 6 0 0 0 0 88
SEMA4A 3 0 56 20 14 0 0 0 0 87
LRAT 1 2 72 4 7 0 0 0 0 86
TOPORS 8 3 53 13 13 0 0 0 1 86
RP2 22 17 29 7 12 0 0 0 0 85
TULP1 18 17 46 1 7 0 0 0 0 85
PCBD1 11 5 17 52 4 0 0 0 2 84
SLC6A19 7 7 30 30 9 0 0 0 0 82
ACADVL, LOC130060113 11 11 25 42 4 0 0 0 0 79
APRT 54 7 17 5 1 0 0 0 6 79
MMAB, MVK 11 8 22 39 8 0 0 0 1 79
ACSF3, LOC125177393 7 9 17 46 5 0 0 0 0 78
IMPDH1 6 5 47 14 9 0 0 0 0 78
LOC126861615, PAH 34 27 22 13 1 0 0 0 1 78
CLPB, LOC130006336 2 1 47 23 3 0 0 0 0 76
IFT172, LOC126806174 6 1 30 40 2 0 0 0 0 76
AMT, NICN1 14 9 37 23 2 0 0 0 0 74
LOC111413029, TAT 3 8 10 54 0 0 0 0 0 74
CFAP418 7 2 52 17 10 0 0 0 0 73
AIPL1 2 3 49 5 15 0 0 0 0 71
PRPF6 2 1 44 8 15 0 0 0 0 70
PREPL, SLC3A1 21 7 34 13 3 0 0 0 0 68
LOC126862422, MLYCD 3 2 22 39 3 0 0 0 0 65
LOC130059554, MLYCD 12 2 19 34 2 0 0 0 0 65
GCH1, LOC130055692 11 0 25 22 7 0 0 0 0 63
LOC129992304, QDPR 5 8 19 30 4 0 0 0 0 62
CYGB, PRCD 5 2 47 2 6 0 0 0 0 61
GRIN2D 6 8 42 2 2 0 0 0 1 59
CPT1A, LOC126861244 8 8 14 29 2 0 0 0 1 58
RP1L1 12 9 8 7 23 0 0 0 0 58
ACADVL, DLG4 3 7 31 14 4 0 0 0 0 57
LOC129930446, MMACHC 23 11 14 18 0 0 0 0 0 57
RLBP1 6 4 41 4 3 0 0 0 0 57
CTH 4 1 42 6 4 0 0 0 0 56
SAG 6 1 37 4 8 0 0 0 0 56
CACNA1A, LOC130063717 0 0 34 22 0 0 0 0 0 55
KLHL7 6 4 29 10 9 0 0 0 0 55
CLPB, LOC126861258 7 2 24 22 1 0 0 0 4 54
LOC121815974, OAT 10 8 8 31 1 0 0 0 0 54
EEF1A2, LOC132090595 1 0 25 23 3 0 0 0 0 52
GCDH, LOC126862860, SYCE2 10 11 19 22 3 0 0 0 2 51
POMGNT1, TSPAN1 12 6 24 2 8 0 0 0 1 51
SPATA7 9 0 34 0 8 0 0 0 0 50
GATM, LOC130056991 1 1 20 26 3 0 0 0 0 49
OFD1 6 0 17 22 3 0 0 0 0 48
SPR 11 6 29 0 2 0 0 0 0 48
GCSH 10 1 20 11 6 0 0 0 0 47
ROM1 1 0 33 9 6 0 0 0 0 47
GUCA1B 1 0 29 6 12 0 0 0 0 46
ACAD9, CFAP92 6 16 17 6 6 0 0 0 0 45
BEST1 7 1 26 4 8 0 0 0 0 45
LOC122152296, USH2A 12 13 19 4 1 0 0 0 0 44
CACNA1A, LOC126862864 5 4 19 16 1 0 0 0 1 43
CERKL, ITGA4 2 2 31 2 7 0 0 0 0 43
CHD2, LOC126862230 5 0 13 24 1 0 0 0 0 43
LOC130064709, OPA3 2 4 17 20 3 0 0 0 1 43
NRL 7 5 18 6 8 0 0 0 0 43
SLC1A2 4 6 26 1 6 0 0 0 0 42
LOC130006765, PTS 9 10 9 21 0 0 0 0 0 41
PRPF3 6 1 24 5 7 0 0 0 0 41
HPD, LOC126861662 4 1 5 29 3 0 0 0 0 40
IFT43 1 1 24 12 3 0 0 0 0 40
AARS1 11 3 17 6 1 0 0 0 2 39
ADK 2 3 22 5 8 0 0 0 0 39
AUH, LOC130002059 4 0 21 11 3 0 0 0 0 39
IDH3B 3 0 33 1 2 0 0 0 0 39
MAK 10 15 13 1 2 0 0 0 0 39
RGR 2 3 30 0 7 0 0 0 0 39
CLRN1 13 23 4 0 0 0 0 0 1 38
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 0 0 0 38
ALDH5A1, LOC129995978 5 2 17 14 1 0 0 0 0 37
ARG1 7 6 12 12 3 0 0 0 0 36
FAH, LOC112272621 4 6 3 24 2 0 0 0 0 36
LOC130059555, MLYCD 4 2 10 21 1 0 0 0 0 36
CIZ1, DNM1 2 3 14 14 3 0 0 0 0 35
LOC126860392, RP1 6 8 14 4 6 0 0 0 0 34
HCN1 10 6 16 4 0 0 0 0 1 33
CACNA1A, LOC126862865 3 0 6 21 3 0 0 0 0 32
GCSH, LOC130059495 1 1 19 9 4 0 0 0 0 32
CA4 1 0 15 9 7 0 0 0 0 31
DNM1, LOC130002698 2 1 10 15 2 0 0 0 0 30
HCFC1, LOC130068842 0 0 4 14 12 0 0 0 0 30
PYCR1 15 7 5 1 2 0 0 0 1 30
UNC119 0 0 12 4 14 0 0 0 0 30
CACNA1A, LOC126862866 2 0 8 19 0 0 0 0 0 29
ZNF513 1 1 25 2 0 0 0 0 0 29
GPR143 18 7 1 1 1 0 0 0 0 28
KIAA1549 4 1 3 9 11 0 0 0 0 28
PDE6G 2 0 15 3 8 0 0 0 0 28
LIAS, LOC112939935 0 0 22 5 0 0 0 0 0 27
LOC126861440, NECAP1 0 1 12 13 1 0 0 0 0 27
BOLA3 4 4 19 2 0 0 0 0 0 26
SLC1A4 10 7 9 0 1 0 0 0 0 26
ABHD14A-ACY1, ACY1 8 4 16 0 0 0 0 0 0 25
DNM1, LOC130002699 1 0 11 9 3 0 0 0 0 24
GPHN, RDH12 7 6 7 1 3 0 0 0 0 24
GPHN, RDH12, ZFYVE26 4 2 15 2 1 0 0 0 0 24
GRID2 10 3 9 0 2 0 0 0 0 24
IFT140, LOC126862260 2 1 13 6 2 0 0 0 0 24
NPHP3-ACAD11, UBA5 15 7 4 0 1 0 0 0 0 24
AASS 10 5 7 1 0 0 0 0 0 23
CC2D2A 6 2 12 3 0 0 0 0 0 23
CEP290 12 3 8 0 0 0 0 0 0 23
RIC3, TUB 2 1 14 0 6 0 0 0 0 22
SLC38A8 8 8 6 1 1 0 0 0 0 22
DHTKD1, LOC130003343 1 0 14 6 0 0 0 0 0 21
GRM1 5 0 4 7 5 0 0 0 0 21
LOC129998833, SLC25A13 2 3 12 7 0 0 0 0 1 21
LOC130055323, SLC7A7 3 4 5 10 1 0 0 0 0 21
SLC6A17 2 0 11 2 5 0 0 0 0 20
TIMM50 8 1 5 2 4 0 0 0 0 20
BEST1, FTH1 1 0 9 6 3 0 0 0 0 19
PMPCB 5 3 9 1 1 0 0 0 0 19
SLC6A20 0 0 18 1 0 0 0 0 0 19
LOC129934069, SPR 1 2 14 1 2 0 0 0 0 18
ABCA4, LOC126805793 7 4 4 0 2 0 0 0 0 17
GGACT, PCCA 5 0 8 4 0 0 0 0 0 17
GUCA1A, GUCA1B 0 0 0 0 17 0 0 0 0 17
LOC129932886, MTR 1 1 2 13 0 0 0 0 0 17
ALDH4A1, LOC120893116 0 0 9 6 3 0 0 0 0 16
CLN3 8 6 3 0 0 0 0 0 0 16
DHX38 2 2 6 1 7 0 0 0 0 16
DNASE1L1, TAFAZZIN 3 2 5 6 1 0 0 0 0 16
FAM161A, LOC129933843 0 4 9 2 1 0 0 0 0 16
FGF12 1 3 10 1 2 0 0 0 0 16
APRT, GALNS 0 0 2 7 6 0 0 0 0 15
ARHGEF18 5 2 8 0 0 0 0 0 1 15
CFAP418, LOC130000784 2 0 11 2 1 0 0 0 0 15
DNAJC12 13 1 1 0 0 0 0 0 0 15
FSCN2 1 0 6 5 3 0 0 0 0 15
GABRB1 3 5 5 1 2 0 0 0 0 15
GLUD1, SHLD2 0 0 9 6 0 0 0 0 0 15
HK1 2 4 3 1 7 0 0 0 0 15
LIPT1, MITD1 6 4 4 0 2 0 0 0 1 15
LOC129934004, NFU1 0 0 8 6 2 0 0 0 0 15
RP9 1 0 6 1 8 0 0 0 0 15
CERKL, LOC129935215 1 4 10 2 0 0 0 0 0 14
LOC129994569, MIR3936HG, SLC22A5 2 1 5 2 6 0 0 0 0 14
MAF, WWOX 1 1 4 1 8 0 0 0 0 14
REEP6 5 0 2 0 7 0 0 0 0 14
UROC1 4 0 3 4 3 0 0 0 0 14
GLUD1, LOC130004255, SHLD2 0 0 6 7 1 0 0 0 0 13
LOC126806368, MMADHC 0 1 2 8 2 0 0 0 0 13
LOC129938008, MCCC1 0 2 6 3 3 0 0 0 0 13
LOC130055324, SLC7A7 3 3 3 4 0 0 0 0 0 13
MECR 8 0 2 0 3 0 0 0 2 13
AGBL5 3 3 5 1 1 0 0 0 0 12
LOC130068202, RP2 5 1 5 2 0 0 0 0 0 12
SNX17, ZNF513 0 0 11 0 1 0 0 0 0 12
ALDH4A1, LOC129929550 1 1 6 4 1 0 0 0 0 11
CERKL, LOC129935214 3 4 5 1 1 0 0 0 0 11
HADH, LOC129992931 0 0 7 0 4 0 0 0 0 11
IDH3A 9 2 2 0 0 0 0 0 0 11
PCDH19 0 10 1 0 0 0 0 0 0 11
SLC36A2 0 0 0 9 1 1 0 0 0 11
BBS1, ZDHHC24 6 4 1 0 0 0 0 0 0 10
CACNA1F 4 2 3 1 0 0 0 0 0 10
CTNS, LOC130059980 0 0 6 1 3 0 0 0 0 10
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 7 0 3 0 0 0 0 10
FLAD1 9 0 0 1 0 0 0 0 0 10
HMGCS2, LOC122094910 2 0 8 0 0 0 0 0 0 10
RPGRIP1 6 4 0 0 0 0 0 0 0 10
SLC7A14 4 0 3 3 2 0 0 0 0 10
AHI1 4 4 1 0 0 0 0 0 0 9
ASL, LOC129998526 1 0 0 7 1 0 0 0 0 9
ASS1, LOC130002809 0 0 7 1 1 0 0 0 0 9
ATP6V0A2, LOC130009117 0 1 6 1 1 0 0 0 0 9
DLD, LOC129999127 0 0 2 7 0 0 0 0 0 9
IMPDH1, LOC129999258 1 0 8 0 1 0 0 0 0 9
LOC113875008, OCRL 0 0 1 8 0 0 0 0 0 9
LOC129933377, ZNF513 0 0 8 1 0 0 0 0 0 9
LOC130009616, SLC25A15 0 0 7 1 1 0 0 0 0 9
GAMT, NDUFS7 1 0 0 3 4 0 0 0 1 8
INS, INS-IGF2, TH 1 0 0 2 5 0 0 0 0 8
ISCA2 3 2 4 0 0 0 0 0 3 8
LOC130004020, PCBD1 0 1 2 5 0 0 0 0 0 8
LOC130055387, NRL 2 2 4 0 1 0 0 0 0 8
LOC130060555, UNC119 0 0 6 1 1 0 0 0 0 8
MYO7A 2 3 3 0 0 0 0 0 0 8
SARDH 0 1 1 1 1 4 0 0 0 8
ALMS1 4 3 0 0 0 0 0 0 0 7
CNGA1 0 0 6 0 1 0 0 0 0 7
FLVCR1 4 1 2 0 0 0 0 0 0 7
HLCS, LOC130066639 0 0 1 0 6 0 0 0 0 7
HSERVPRODH, PRODH 2 0 2 3 0 0 0 0 0 7
HTRA2 1 1 2 2 1 0 0 0 0 7
LOC130056226, SPATA7 0 0 6 0 1 0 0 0 0 7
POMGNT1 1 0 5 0 1 0 0 0 0 7
TTLL5 6 1 0 0 0 0 0 0 0 7
ACAD9, LOC126806807 0 2 4 1 0 0 0 0 0 6
APRT, LOC130059760 4 2 0 0 0 0 0 0 0 6
ARL2BP 5 1 0 0 0 0 0 0 0 6
ARL3 3 0 3 0 1 0 0 0 0 6
ATP6V1A 2 1 2 1 0 0 0 0 0 6
CACNA1A, LOC108663985 0 0 0 3 3 0 0 0 0 6
GUCY2D 2 3 1 0 0 0 0 0 0 6
HPD, LOC130009013 0 0 6 0 0 0 0 0 0 6
RCBTB1 0 4 2 0 0 0 0 0 0 6
ABAT, PMM2, TMEM186 0 0 4 0 0 0 0 0 1 5
ACADL 0 0 5 0 0 0 0 0 0 5
ADGRV1 0 2 3 0 0 0 0 0 0 5
ATP6V0A2, LOC126861666 0 1 3 0 1 0 0 0 1 5
CFAP410 2 2 1 0 0 0 0 0 0 5
CUBN, LOC126860871 0 1 2 0 2 0 0 0 0 5
CUBN, LOC129390143 0 0 4 0 1 0 0 0 0 5
GLUD1, LOC130004254 0 0 1 4 1 0 0 0 0 5
LOC112806037, MERTK 3 0 2 0 0 0 0 0 0 5
LOC112841608, SNRNP200 0 0 3 0 2 0 0 0 0 5
LOC129993163, MMAA 0 0 5 0 0 0 0 0 0 5
LOC130001482, SLC1A1 0 0 2 3 0 0 0 0 0 5
NEK2 1 0 2 1 1 0 0 0 0 5
PRPF4 2 0 3 0 0 0 0 0 0 5
SUGCT 3 1 2 0 0 0 0 0 1 5
​intergenic 0 2 2 0 0 0 0 0 0 4
ABCA4, LOC126805794 3 1 1 0 0 0 0 0 0 4
ACADM, LOC129930773 0 0 0 4 0 0 0 0 0 4
ACADVL, DVL2 2 4 0 0 0 0 0 0 0 4
ADAM9 4 0 0 0 0 0 0 0 0 4
ADK, LOC102723439 1 1 0 1 2 0 0 0 0 4
BBS1 2 1 2 0 0 0 0 0 0 4
BBS4 2 1 1 0 0 0 0 0 0 4
CDH23 1 2 1 0 0 0 0 0 0 4
CEP78 4 0 0 0 0 0 0 0 0 4
CNGA3 1 3 0 0 0 0 0 0 0 4
CNGB3 1 0 2 0 0 0 0 0 1 4
DNM1, LOC130002697 0 0 0 4 0 0 0 0 0 4
GLRX5 3 0 1 0 0 0 0 0 0 4
GNAT1 2 0 2 0 0 0 0 0 0 4
GUCA1A, GUCA1ANB-GUCA1A 1 3 0 0 0 0 0 0 0 4
HADHA, HADHB 0 0 1 2 1 0 0 0 0 4
IDH3B, LOC129391150 0 0 3 1 0 0 0 0 0 4
IMPG1 2 1 1 0 0 0 0 0 0 4
INS, TH 0 0 1 3 3 0 0 0 0 4
KIZ 1 0 0 3 0 0 0 0 0 4
LCA5 4 0 0 0 0 0 0 0 0 4
LOC114803470, SCN8A 0 0 3 1 0 0 0 0 0 4
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 0 0 0 4
LOC126863090, PRPF6 0 0 3 0 1 0 0 0 0 4
LOC129999056, PMPCB 0 1 3 0 0 0 0 0 0 4
MMACHC, PRDX1 3 0 1 0 0 0 0 0 0 4
OCA2 0 4 0 0 0 0 0 0 0 4
PANK2 3 0 1 0 0 0 0 0 0 4
PRPF31, TFPT 2 1 1 0 0 0 0 0 0 4
RAX2 4 0 0 0 0 0 0 0 0 4
SMIM27, TOPORS 0 0 2 1 1 0 0 0 0 4
VPS13B 3 0 0 0 1 0 0 0 0 4
ZNF408 2 1 2 0 0 0 0 0 0 4
ASS1, LOC110121061 0 0 0 3 0 0 0 0 0 3
BBS12 0 2 1 0 0 0 0 0 0 3
CABP4 1 2 0 0 0 0 0 0 0 3
CHM 2 1 0 0 0 0 0 0 0 3
CNPY3-GNMT, GNMT 3 0 0 0 0 0 0 0 0 3
CTNS, LOC130059980, LOC130059981 3 0 0 0 0 0 0 0 0 3
CYP4V2 2 1 0 0 0 0 0 0 0 3
DCT 0 3 0 0 0 0 0 0 0 3
DHX38, LOC126862391 0 0 1 0 0 0 0 0 2 3
ECHDC1 0 3 0 0 0 0 0 0 0 3
FAH, LOC130057734 0 0 1 0 2 0 0 0 0 3
GCH1, LOC130055688 0 0 0 2 1 0 0 0 0 3
GLDC, LOC130001539 0 0 2 1 0 0 0 0 0 3
GRIN2D, LOC130064855 0 0 2 1 0 0 0 0 0 3
HGSNAT, POMK 1 0 2 0 0 0 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 0 0 0 3
HTRA2, LOC129934143 1 0 2 0 0 0 0 0 0 3
IMPDH1, LOC107986845 0 0 3 0 0 0 0 0 0 3
KIZ, LOC130065509 2 0 1 0 0 0 0 0 0 3
KYNU 1 1 0 0 1 0 0 0 0 3
LOC126806272, SNRNP200 0 0 1 1 1 0 0 0 0 3
LOC129998495, PSPH 0 0 3 0 0 0 0 0 0 3
NAGS, PYY 0 2 1 0 0 0 0 0 0 3
PHYH 2 2 0 0 0 0 0 0 0 3
PITPNM3 0 0 2 1 0 0 0 0 0 3
RIMS1 1 0 2 0 0 0 0 0 0 3
UQCRFS1 3 0 0 0 0 0 0 0 0 3
ACBD5 0 0 2 0 0 0 0 0 0 2
ADAMTS18 0 0 1 0 1 0 0 0 0 2
ALDH4A1, MIR4695 0 0 0 2 1 0 0 0 0 2
ALDH6A1 0 0 2 0 0 0 0 0 0 2
AMN 1 0 1 0 0 0 0 0 0 2
ARL6, EPHA6 1 0 1 0 0 0 0 0 0 2
ARSA 0 0 0 0 2 0 0 0 0 2
ASCL1, PAH 0 0 1 1 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 0 0 0 2
BBS10 1 1 0 0 0 0 0 0 0 2
BBS7 1 1 0 0 0 0 0 0 0 2
BCAT2 2 0 0 0 0 0 0 0 0 2
BOLA3, TET3 0 0 2 0 0 0 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 0 0 2 0 0 0 0 0 0 2
CACNA2D4 2 0 0 0 0 0 0 0 0 2
CCT6A, CHCHD2, PHKG1, PSPH, SUMF2 0 0 2 0 0 0 0 0 0 2
CDH3 0 2 0 0 0 0 0 0 0 2
CDHR1, LOC130004216 0 0 1 1 0 0 0 0 0 2
CLCC1 1 0 0 0 0 0 0 0 1 2
CNNM4 0 0 2 0 0 0 0 0 0 2
CTH, LOC129930756 0 0 1 1 0 0 0 0 0 2
DGCR6, PRODH 1 0 1 0 0 0 0 0 0 2
EEF1A2, KCNQ2 0 0 2 0 0 0 0 0 0 2
EEF1A2, PPDPF 0 0 2 0 0 0 0 0 0 2
EML3, ROM1 0 0 2 0 0 0 0 0 0 2
EYS, LOC132089416 2 0 0 0 0 0 0 0 0 2
GLDC, LOC113839554, LOC126860573, LOC130001537 2 0 0 0 0 0 0 0 0 2
GLDC, LOC130001538 1 0 1 0 0 0 0 0 0 2
GPR179 0 0 2 0 0 0 0 0 0 2
GRIN2D, LOC130064857 2 1 0 0 0 0 0 0 0 2
HPS4 2 0 0 0 0 0 0 0 0 2
HTRA2, LOXL3 2 0 0 0 0 0 0 0 0 2
IQCB1 0 2 0 0 0 0 0 0 0 2
ISCA1, LOC130001967 1 0 1 0 0 0 0 0 1 2
KIZ, LOC130065507 2 0 0 0 0 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 0 1 0 0 0 0 0 0 2
LOC126863089, PRPF6 0 0 1 0 1 0 0 0 0 2
LOC129933376, ZNF513 0 0 2 0 0 0 0 0 0 2
LOC129998225, RP9 0 0 1 1 0 0 0 0 0 2
LOC130068098, RPGR 1 1 0 0 0 0 0 0 0 2
LURAP1L, TYRP1 1 1 0 0 0 0 0 0 0 2
MFSD8 0 1 1 0 0 0 0 0 0 2
NDUFA3, PRPF31, TFPT 2 0 0 0 0 0 0 0 0 2
NMNAT1 2 0 0 0 0 0 0 0 0 2
NPHP4 0 2 0 0 0 0 0 0 0 2
OPA1 0 0 2 0 0 0 0 0 0 2
OTC, RPGR 1 0 1 0 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 0 0 2
PPT1 2 0 0 0 0 0 0 0 0 2
RAB28 1 1 0 0 0 0 0 0 0 2
RBFOX1 0 2 0 0 0 0 0 0 0 2
SAMD11 0 0 2 0 0 0 0 0 0 2
SCN2A 0 0 0 0 0 0 0 0 2 2
SLC24A1 2 0 0 0 0 0 0 0 0 2
SRGAP2 0 2 0 0 0 0 0 0 0 2
TDO2 2 0 0 0 0 0 0 0 0 2
TRPM1 0 0 2 0 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 0 0 0 2
TUB 0 0 2 0 0 0 0 0 0 2
USH1C 2 0 0 0 0 0 0 0 0 2
VSX2 1 0 1 0 0 0 0 0 0 2
VWA8 1 0 0 0 1 0 0 0 0 2
WDR19 0 0 2 0 0 0 0 0 0 2
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, USP5, ZNF705A 0 0 1 0 0 0 0 0 0 1
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 0 1
ABAT, CARHSP1, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 0 1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 0 0 1 0 0 0 0 0 0 1
ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, CBARP, CFD, CIRBP, CNN2, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, HCN2, KISS1R, MED16, MIDN, MISP, NDUFS7, PALM, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RNF126, SBNO2, STK11, TMEM259, WDR18 0 0 1 0 0 0 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, CAMK2N2, CLCN2, DVL3, ECE2, EIF2B5, EIF4G1, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, THPO, VWA5B2, YEATS2 1 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 0 1
ABCD1, BCAP31, IDH3G, L1CAM, PDZD4, PLXNB3, SLC6A8, SRPK3, SSR4 0 0 1 0 0 0 0 0 0 1
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 1 0 0 0 0 0 0 0 0 1
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 0 0 0 1
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 0 0 0 1
ABHD17C, ARNT2, CEMIP, FAH, MESD, ZFAND6 0 0 1 0 0 0 0 0 0 1
ABL1, ASS1, EXOSC2, FUBP3, PRDM12 0 0 1 0 0 0 0 0 0 1
ABTB1, ACAD11, ACAD9, ACKR4, ACP3, ADCY5, ALDH1L1, ALG1L2, ARGFX, ASTE1, ATP2C1, BFSP2, C3orf22, CASR, CCDC14, CD86, CDV3, CFAP100, CFAP92, CHCHD6, CHST13, CNBP, COL6A5, COL6A6, COPG1, CPNE4, CSTA, DNAJB8, DNAJC13, DTX3L, EAF2, EEFSEC, EFCAB12, EFCC1, FAM162A, FBXO40, GATA2, GOLGB1, GP9, GTF2E1, H1-10, H1-8, HACD2, HCLS1, HEG1, HGD, HMCES, HSPBAP1, IFT122, ILDR1, IQCB1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, LINC01565, MBD4, MCM2, MGLL, MIX23, MRPL3, MUC13, MYLK, NEK11, NPHP3, NUDT16, OSBPL11, PARP14, PARP15, PARP9, PDIA5, PIK3R4, PLXNA1, PLXND1, PODXL2, POLQ, PRR23E, RAB43, RAB7A, RABL3, RHO, ROPN1, ROPN1B, RPN1, RUVBL1, SEC22A, SEC61A1, SEMA5B, SLC12A8, SLC15A2, SLC41A3, SLC49A4, SNX4, STXBP5L, TF, TMCC1, TMEM108, TOPBP1, TPRA1, TRH, TXNRD3, TXNRD3NB, UBA5, UMPS, UROC1, WDR5B, ZNF148, ZXDC 1 0 0 0 0 0 0 0 0 1
ACAD11, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 0 0 0 1
ACAD8, IGSF9B, JAM3, NCAPD3, THYN1, VPS26B 1 0 0 0 0 0 0 0 0 1
ACADM, ASB17, LOC101927342, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3 1 0 0 0 0 0 0 0 0 1
ACADM, LOC129930772 0 0 1 0 0 0 0 0 0 1
ACADSB, IKZF5, LOC130004876 0 0 0 0 1 0 0 0 0 1
ACADSB, LOC130004876 0 0 0 1 0 0 0 0 0 1
ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, ASGR2, ATP1B2, BCL6B, C17orf100, C17orf49, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 0 0 0 1
ACADVL, ACAP1, ALOX12B, ALOX15B, ALOXE3, ATP1B2, AURKB, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MPDU1, NAA38, NEURL4, NLGN2, PER1, PFAS, PHF23, PLSCR3, POLR2A, RANGRF, SAT2, SENP3, SHBG, SLC25A35, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, YBX2, ZBTB4 1 0 0 0 0 0 0 0 0 1
ACADVL, AIPL1, ALOX12, ASGR1, ASGR2, BCL6B, C17orf100, C17orf49, CLEC10A, DLG4, FBXO39, KIAA0753, MED31, MIR195, MIR497HG, PIMREG, PITPNM3, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, TXNDC17, XAF1 0 0 1 0 0 0 0 0 0 1
ACADVL, ALOX12, ASGR1, ASGR2, BCL6B, C17orf49, CLEC10A, DLG4, FBXO39, MIR195, MIR497HG, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, XAF1 1 0 0 0 0 0 0 0 0 1
ACAT1, ACAT2 1 0 0 0 0 0 0 0 0 1
ACAT1, ATM, C11orf65, EXPH5, NPAT, POGLUT3 0 0 1 0 0 0 0 0 0 1
ACAT1, LOC129390351 1 0 0 0 0 0 0 0 0 1
ACAT2, AGPAT4, AIRN, DYNLT1, EZR, FNDC1, GTF2H5, IGF2R, LINC02901, LPA, MAP3K4, MAS1, MRPL18, PLG, PNLDC1, PRKN, RSPH3, SERAC1, SLC22A1, SLC22A2, SLC22A3, SOD2, SYTL3, TAGAP, TCP1, TMEM181, TULP4, WTAP 1 0 0 0 0 0 0 0 0 1
ACIN1, ADCY4, AJUBA, AP1G2, BCL2L2, BCL2L2-PABPN1, C14orf119, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CHMP4A, CIDEB, CMA1, CMTM5, CPNE6, CTSG, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, EFS, EMC9, FITM1, GMPR2, GZMB, GZMH, HAUS4, HOMEZ, IL25, IPO4, IRF9, JPH4, KHNYN, LRP10, LTB4R, LTB4R2, MDP1, MIR208A, MIR208B, MMP14, MRPL52, MYH6, MYH7, NEDD8, NEDD8-MDP1, NFATC4, NGDN, NOP9, NRL, NYNRIN, PABPN1, PCK2, PPP1R3E, PRMT5, PSMB11, PSMB5, PSME1, PSME2, RABGGTA, RBM23, REC8, REM2, RIPK3, RNF212B, RNF31, SDR39U1, SLC22A17, SLC7A7, SLC7A8, TGM1, THTPA, TINF2, TM9SF1, TSSK4, ZFHX2 0 0 1 0 0 0 0 0 0 1
ACO2, ADSL, ANKRD54, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ATF4, BAIAP2L2, C1QTNF6, C22orf23, CACNA1I, CACNG2, CARD10, CBX6, CBX7, CBY1, CCDC134, CDC42EP1, CENPM, CHADL, CIMIP4, CSDC2, CSF2RB, CSNK1E, CYTH4, DDX17, DESI1, DMC1, DNAJB7, DNAL4, EIF3D, EIF3L, ELFN2, ENTHD1, EP300, FAM227A, FAM83F, FOXRED2, GALR3, GCAT, GGA1, GRAP2, GTPBP1, H1-0, HMOX1, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, L3MBTL2, LGALS1, LGALS2, MAFF, MB, MCHR1, MCM5, MEI1, MFNG, MGAT3, MICALL1, MIEF1, MIR33A, MIR659, MPST, MRTFA, MYH9, NAGA, NCF4, NDUFA6, NOL12, NPTXR, PDGFB, PDXP, PHETA2, PHF5A, PICK1, PLA2G6, PMM1, POLR2F, POLR3H, PVALB, RAC2, RANGAP1, RASD2, RBFOX2, RBX1, RPL3, RPS19BP1, SEPTIN3, SGSM3, SH3BP1, SHISA8, SLC16A8, SLC25A17, SMDT1, SNORD139, SNORD43, SNORD83A, SNORD83B, SNU13, SOX10, SREBF2, SSTR3, ST13, SUN2, SYNGR1, TAB1, TEF, TMEM184B, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOMM22, TRIOBP, TST, TXN2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B 0 0 1 0 0 0 0 0 0 1
ACOT8, ADA, ARFGEF2, B4GALT5, CCN5, CD40, CDH22, CSE1L, CTSA, DBNDD2, DDX27, DNTTIP1, ELMO2, EPPIN, EPPIN-WFDC6, EYA2, HNF4A, KCNB1, KCNK15, KCNS1, MATN4, MMP9, NCOA3, NCOA5, NEURL2, OCSTAMP, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, PREX1, PTGIS, RBPJL, RIMS4, RNF114, SDC4, SEMG1, SEMG2, SERINC3, SLC12A5, SLC13A3, SLC2A10, SLC35C2, SLC9A8, SLPI, SNX21, SPATA2, SPATA25, SPINT3, SPINT4, STAU1, STK4, SULF2, SYS1, TNNC2, TOMM34, TP53RK, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZMYND8, ZNF334, ZNF335, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 1 0 0 0 0 0 0 0 0 1
ACOX3, BOD1L1, BST1, C1QTNF7, CC2D2A, CD38, CLNK, CPEB2, CPEB2-DT, CPZ, DEFB131A, DRD5, FAM200B, FAM90A26, FBXL5, FGFBP1, FGFBP2, GPR78, HMX1, HS3ST1, LDB2, LINC00504, LINC01085, LINC01096, LINC01097, LINC01182, LINC02270, LINC02360, LINC02493, LOC101928532, LOC107986178, LOC110120633, LOC110120784, LOC111828517, LOC112939924, LOC112997536, LOC114827818, LOC116158485, LOC121048739, LOC121048740, LOC121725169, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, LOC126806970, LOC126806971, LOC126806972, LOC126806973, LOC126806974, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC129992221, LOC129992222, LOC129992223, LOC129992224, LOC129992225, LOC129992226, LOC129992227, LOC129992228, LOC129992229, LOC129992230, LOC129992231, LOC129992232, LOC129992233, LOC129992234, LOC129992235, LOC129992236, LOC129992237, LOC129992238, LOC129992239, LOC129992240, LOC129992241, LOC129992242, LOC129992243, LOC129992244, LOC129992245, LOC129992246, LOC129992247, LOC129992248, LOC129992249, LOC129992250, LOC129992251, LOC129992252, LOC129992253, LOC129992254, LOC129992255, LOC129992256, LOC129992257, LOC129992258, LOC129992259, LOC129992260, LOC129992261, LOC129992262, LOC129992263, LOC129992264, LOC129992265, LOC129992266, LOC129992267, LOC129992268, LOC129992269, LOC129992270, LOC129992271, LOC129992272, LOC129992273, LOC129992274, LOC129992275, LOC129992276, LOC129992277, LOC129992278, LOC129992279, LOC129992280, LOC129992281, LOC129992282, LOC129992283, LOC129992284, LOC129992285, LOC129992286, LOC129992287, LOC129992288, LOC129992289, LOC129992290, LOC129992291, LOC129992292, LOC129992293, LOC129992294, LOC129992295, LOC129992296, LOC129992297, LOC129992298, LOC129992299, LOC129992300, LOC129992301, LOC129992302, LOC129992303, LOC132089075, MIR12113, MIR3138, MIR5091, MIR548I2, MIR572, NKX3-2, PROM1, QDPR, RAB28, SLC2A9, SNORA75B, TAPT1, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, WDR1, ZNF518B 1 0 0 0 0 0 0 0 0 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 0 0 0 1
ACSL6, CDC42SE2, CSF2, FNIP1, HINT1, IL3, LYRM7, P4HA2, PDLIM4, RAPGEF6, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 0 1
ACTB 0 1 0 0 0 0 0 0 0 1
ACTG2, ALMS1, ANKRD53, ATP6V1B1, AUP1, BOLA3, C2orf78, C2orf81, CCDC142, CCT7, CD207, CLEC4F, CYP26B1, DCTN1, DGUOK, DOK1, DQX1, DUSP11, DYSF, EGR4, EMX1, EXOC6B, FBXO41, FIGLA, HTRA2, INO80B, LBX2, LOXL3, MCEE, MOB1A, MOGS, MPHOSPH10, MRPL53, MTHFD2, NAGK, NAT8, NAT8B, NOTO, PAIP2B, PCGF1, PRADC1, RAB11FIP5, RTKN, SFXN5, SLC4A5, SMYD5, SPR, STAMBP, TET3, TEX261, TLX2, TPRKB, TTC31, VAX2, WBP1, WDR54, ZNF638 1 0 0 0 0 0 0 0 0 1
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 0 0 0 0 1
ACTRT1, DCAF12L1, LOC113875008, LOC121627978, LOC121853067, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 0 0 1
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 0 0 0 0 0 0 0 1
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 0 0 0 0 1
ADAM9, LOC130000261 1 0 0 0 0 0 0 0 0 1
ADAMTSL5, APC2, ATP5F1D, C19orf25, CBARP, CIRBP, DAZAP1, EFNA2, FAM174C, GAMT, MBD3, MEX3D, MIDN, NDUFS7, PCSK4, PLK5, PWWP3A, REEP6, RPS15, STK11, TCF3, UQCR11 1 0 0 0 0 0 0 0 0 1
ADGRA3 0 1 0 0 0 0 0 0 0 1
ADSL, ATF4, CACNA1I, ENTHD1, FAM83F, GRAP2, MCHR1, MGAT3, MIEF1, MRTFA, PDGFB, RPL3, RPS19BP1, SGSM3, SNORD139, SNORD43, SNORD83A, SNORD83B, SYNGR1, TAB1, TNRC6B 0 0 1 0 0 0 0 0 0 1
AFG2B, BLOC1S6, C15orf48, GATM, SLC30A4 0 0 1 0 0 0 0 0 0 1
AGL, CDC14A, DBT, DPH5, EXTL2, GPR88, LRRC39, MFSD14A, RTCA, S1PR1, SASS6, SLC30A7, SLC35A3, TRMT13, VCAM1 0 0 1 0 0 0 0 0 0 1
AHR 1 0 0 0 0 0 0 0 0 1
AIFM1, RAB33A 0 0 1 0 0 0 0 0 0 1
AIPL1, C17orf100, C1QBP, DERL2, DHX33, KIAA0753, MED31, MIS12, NLRP1, NUP88, PIMREG, PITPNM3, RPAIN, SLC13A5, TXNDC17, WSCD1 0 0 1 0 0 0 0 0 0 1
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 0 0 0 1
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, LCN2, LMX1B, LRSAM1, MIR199B, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 0 0 1 0 0 0 0 0 0 1
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, ASAP3, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, CNR2, DDOST, E2F2, ECE1, EIF4G3, ELOA, EMC1, EPHA8, EPHB2, FAM43B, FUCA1, GALE, GRHL3, HMGCL, HNRNPR, HP1BP3, HSPG2, HTR1D, HTR6, ID3, IFFO2, IFNLR1, IL22RA1, KDM1A, KIF17, LACTBL1, LDLRAD2, LUZP1, LYPLA2, MDS2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, MYOM3, NBL1, NBPF3, OTUD3, PINK1, PITHD1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PNRC2, RAP1GAP, RNF186, RPL11, SH2D5, SLC66A1, SRSF10, STPG1, TCEA3, TEX46, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40, ZNF436 0 0 1 0 0 0 0 0 0 1
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EMC1, EPHA8, FAM43B, HP1BP3, HSPG2, HTR6, IFFO2, KIF17, LDLRAD2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, NBL1, NBPF3, OTUD3, PINK1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, RAP1GAP, RNF186, SH2D5, SLC66A1, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40 0 0 1 0 0 0 0 0 0 1
ALDH18A1, LOC121815958 1 0 0 0 0 0 0 0 0 1
ALDH5A1, DCDC2, GPLD1, KAAG1, MRS2 0 0 1 0 0 0 0 0 0 1
ALDH5A1, LOC129995983 1 1 0 0 0 0 0 0 0 1
ALDH7A1 1 0 0 0 0 0 0 0 0 1
ALG9, BCO2, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, IL18, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, PTS, SDHD, SIK2, TEX12, TIMM8B 0 0 1 0 0 0 0 0 0 1
ALX3, KCNA10, KCNA2, KCNC4, LAMTOR5, PROK1, RBM15, SLC16A4, SLC6A17, UBL4B 1 0 0 0 0 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 0 0 0 0 1
AMT, GPX1, NICN1, RHOA, TCTA 0 0 1 0 0 0 0 0 0 1
ANAPC15, ARAP1, ARHGEF17, ARRB1, ATG16L2, C2CD3, CHRDL2, CLPB, COA4, DEFB108B, DHCR7, DNAJB13, FAM168A, FAM86C1P, FCHSD2, FOLR1, FOLR2, FOLR3, GDPD5, IL18BP, INPPL1, KCNE3, KLHL35, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LIPT2, LRTOMT, MIR139, MIR326, MRPL48, NADSYN1, NEU3, NUMA1, OR2AT4, P2RY2, P2RY6, P4HA3, PAAF1, PDE2A, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, SERPINH1, SLCO2B1, SNORD15A, SPCS2, STARD10, TPBGL, UCP2, UCP3, XRRA1, ZNF705E 0 0 1 0 0 0 0 0 0 1
AP2A2, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, IFITM10, IGF2, INS, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PIDD1, PNPLA2, POLR2L, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 0 0 1 0 0 0 0 0 0 1
APBB2, CHRNA9, FAM114A1, KLB, KLHL5, LIAS, LIMCH1, N4BP2, NSUN7, PDS5A, PHOX2B, RBM47, RFC1, RHOH, RPL9, SMIM14, TLR1, TLR10, TLR6, TMEM156, UBE2K, UCHL1, UGDH, WDR19 0 0 1 0 0 0 0 0 0 1
APLN, OCRL, SASH3, XPNPEP2, ZDHHC9 0 0 1 0 0 0 0 0 0 1
APRT, GALNS, LOC130059760 0 0 0 1 0 0 0 0 0 1
ARF1, C1orf35, GJC2, GUK1, IBA57, MRPL55, OBSCN, WNT3A 0 0 1 0 0 0 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, EEF1A2, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 0 0 1 0 0 0 0 0 0 1
ARFGEF2, CSE1L, DDX27, KCNB1, STAU1, ZNFX1 0 0 1 0 0 0 0 0 0 1
ARG1, CTAGE9, ENPP1, ENPP3, MED23, OR2A4 0 0 1 0 0 0 0 0 0 1
ARHGAP10, C4orf51, EDNRA, LSM6, MMAA, NR3C2, POU4F2, PRMT9, SLC10A7, TMEM184C, TTC29, ZNF827 1 0 0 0 0 0 0 0 0 1
ARID1A, AUNIP, CATSPER4, CD52, CEP85, CNKSR1, CRYBG2, DHDDS, EXTL1, FAM110D, GPATCH3, GPN2, HMGN2, KDF1, LDLRAP1, LIN28A, MAN1C1, MTFR1L, NR0B2, NUDC, PAFAH2, PAQR7, PDIK1L, PIGV, RPS6KA1, SELENON, SFN, SH3BGRL3, SLC30A2, STMN1, TRIM63, UBXN11, ZDHHC18, ZNF593, ZNF683 0 0 1 0 0 0 0 0 0 1
ARMC5, BCKDK, BCL7C, CFAP119, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, RUSF1, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843 0 0 1 0 0 0 0 0 0 1
ASCL2, BRSK2, C11orf21, CD81, CDKN1C, CTSD, DUSP8, H19, IFITM10, IGF2, INS, INS-IGF2, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC5B, SYT8, TH, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSSC4 0 0 1 0 0 0 0 0 0 1
ASL, CRCP, KCTD7, RABGEF1, SBDS, TMEM248, TPST1 0 1 0 0 0 0 0 0 0 1
ASL, GUSB 1 0 0 0 0 0 0 0 0 1
ASL, LOC129998525 0 0 1 0 0 0 0 0 0 1
ASPA, CTNS, SHPK, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 0 0 0 0 1
ASPA, CTNS, SHPK, TRPV1, TRPV3 1 0 0 0 0 0 0 0 0 1
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 0 0 0 0 0 0 1
ATG14, BMP4, CDKN3, CGRRF1, CNIH1, DLGAP5, FBXO34, GCH1, GMFB, KTN1, LGALS3, LINC00520, LOC109433677, LOC110121362, LOC111413016, LOC112268483, LOC112268484, LOC112268485, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC130055670, LOC130055671, LOC130055672, LOC130055673, LOC130055674, LOC130055675, LOC130055676, LOC130055677, LOC130055678, LOC130055679, LOC130055680, LOC130055681, LOC130055682, LOC130055683, LOC130055684, LOC130055685, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, LOC130055693, LOC130055694, LOC130055695, LOC130055696, LOC130055697, LOC130055698, LOC130055699, LOC130055700, LOC130055701, LOC130055702, LOC130055703, LOC130055704, LOC130055705, LOC130055706, LOC130055707, LOC130055708, LOC130055709, LOC130055710, LOC130055711, LOC130055712, LOC130055713, LOC130055714, LOC130055715, LOC130055716, LOC130055717, MAPK1IP1L, MIR4308, PELI2, SAMD4A, SOCS4, TBPL2, WDHD1 1 0 0 0 0 0 0 0 0 1
ATP1A3 0 1 0 0 0 0 0 0 0 1
ATP2B2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, IRAK2, SEC13, SLC6A1, SLC6A11, TATDN2, VHL 1 0 0 0 0 0 0 0 0 1
ATP2B3, BGN, CCNQ, DUSP9, PNCK, SLC6A8 0 0 1 0 0 0 0 0 0 1
ATP5ME, MYL5, PDE6B, SLC49A3 1 0 0 0 0 0 0 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 1
ATP6AP2, BCOR, CFAP47, CXorf22, CXorf30, CXorf38, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, FTHL17, GK, H2AP, LANCL3, MAGEB16, MED14, MID1IP1, MPC1L, NR0B1, OTC, PRRG1, RPGR, SRPX, SYTL5, TAB3, TASL, TMEM47, TSPAN7, USP9X, XK 1 0 0 0 0 0 0 0 0 1
ATP6V0A2, LOC130009117, TCTN2 0 0 0 0 1 0 0 0 0 1
AUH, NFIL3, ROR2 0 0 1 0 0 0 0 0 0 1
B2M, BLOC1S6, C15orf48, DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, PATL2, SHF, SLC28A2, SLC30A4, SORD, SPATA5L1, SPG11, TERB2, TRIM69 0 0 1 0 0 0 0 0 0 1
B3GAT3, ROM1 0 0 0 1 0 0 0 0 0 1
BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469 1 0 0 0 0 0 0 0 0 1
BBS2, OGFOD1 0 0 1 0 0 0 0 0 0 1
BBS9 0 1 0 0 0 0 0 0 0 1
BCAP31, SLC6A8 0 0 1 0 0 0 0 0 0 1
BCKDHB, ELOVL4, HMGN3, LCA5, LINC01621, PHIP, SH3BGRL2, TTK 1 0 0 0 0 0 0 0 0 1
BDP1, MCCC2 0 0 1 0 0 0 0 0 0 1
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 0 0 0 0 0 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, CRX, DHX34, EHD2, INAFM1, KPTN, LINC01595, LOC112552166, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, SULT2A1, TPRX1, TPRX2, ZNF541 0 0 1 0 0 0 0 0 0 1
BIVM, BIVM-ERCC5, CCDC168, CLYBL, ERCC5, FGF14, GGACT, ITGBL1, METTL21C, NALCN, PCCA, POGLUT2, SLC10A2, TEX30, TM9SF2, TMTC4, TPP2, UBAC2, ZIC2, ZIC5 0 0 1 0 0 0 0 0 0 1
BLOC1S1-RDH5, RDH5 0 1 0 0 0 0 0 0 0 1
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A 1 0 0 0 0 0 0 0 0 1
BTD, COLQ, HACL1 1 0 0 0 0 0 0 0 0 1
C1orf167, MTHFR 0 0 1 0 0 0 0 0 0 1
C3AR1, CLEC4C, DPPA3, FOXJ2, GDF3, NANOG, NANOGNB, NECAP1, SLC2A14, SLC2A3 0 0 1 0 0 0 0 0 0 1
C3AR1, NECAP1 0 0 1 0 0 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 0 0 0 1
CCDC39, DNAJC19, FXR1 1 0 0 0 0 0 0 0 0 1
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 0 0 0 0 1
CDT1 0 0 0 1 0 0 0 0 0 1
CENPF 0 1 0 0 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 0 0 1
CEP78, GNA14, GNAQ, PSAT1, VPS13A 1 0 0 0 0 0 0 0 0 1
CEP89, SLC7A9 0 1 0 0 0 0 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, LOC122861261, LOC122861262, LOC126806440, LOC129388961, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, NEUROD1 0 1 0 0 0 0 0 0 0 1
CFAP410, LOC130066823 1 1 0 0 0 0 0 0 0 1
CFAP47, CXorf22, CXorf30, CYBB, DYNLT3, FAM47C, H2AP, LANCL3, MAGEB16, OTC, PRRG1, RPGR, SRPX, SYTL5, TSPAN7, XK 1 0 0 0 0 0 0 0 0 1
CHRNA4 0 0 1 0 0 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 1 0 0 0 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 0 0 0 1
CLEC3A, LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC126862410, LOC126862411, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090888, VAT1L, WWOX 0 0 1 0 0 0 0 0 0 1
CLPB, LOC124500684, LOC126861258, LOC126861259, LOC130006330, LOC130006331, LOC130006332, LOC130006333, LOC130006334, LOC130006335, LOC130006336 1 0 0 0 0 0 0 0 0 1
CNGB1, LOC130059126 0 0 1 0 0 0 0 0 0 1
COL18A1 0 1 0 0 0 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 0 0 0 1
COL1A1 0 1 0 0 0 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 0 0 1
CRX, LINC01595, SULT2A1, TPRX1, TPRX2 0 0 1 0 0 0 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 0 0 0 1
CRX, TPRX2 0 0 0 1 1 0 0 0 0 1
CRYGS 1 0 0 0 0 0 0 0 0 1
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1 1 0 0 0 0 0 0 0 0 1
CTNS, LOC130059981 0 0 1 0 0 0 0 0 0 1
CTNS, SHPK, TAX1BP3 0 0 1 0 0 0 0 0 0 1
CTNS, SHPK, TRPV1 1 0 0 0 0 0 0 0 0 1
CTNS, TRPV1 0 0 0 0 1 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5 0 0 1 0 0 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5, XK 1 0 0 0 0 0 0 0 0 1
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 0 0 0 1
DBT, LOC129931021 0 0 1 0 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 0 0 0 1
DDX27, KCNB1, LOC112694720, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, SNORD12, SNORD12B, SNORD12C, STAU1, ZFAS1, ZNFX1 0 0 1 0 0 0 0 0 0 1
DEPDC1, RPE65 1 0 0 0 0 0 0 0 0 1
DGCR5, DGCR6, HSERVPRODH, LOC122455341, PRODH 1 0 0 0 0 0 0 0 0 1
DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 0 0 0 1
DHTKD1, LOC130003342, LOC130003343, LOC130003344, LOC130003345 0 0 1 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 0 1
DLD, SLC26A3 1 0 0 0 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 0 0 0 1
DRAM2 0 1 0 0 0 0 0 0 0 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, LOC121847946, LOC129390694, LOC130056979, LOC130056980, LOC130056981, LOC130056982, LOC130056983, LOC130056984, LOC130056985, LOC130056986, LOC130056987, LOC130056988, LOC130056989, LOC130056990, LOC130056991, SHF, SLC28A2, SORD, TERB2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 0 0 1 0 0 0 0 0 0 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, SHF, SLC28A2, SORD, TERB2 0 0 1 0 0 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212 0 0 1 0 0 0 0 0 0 1
EFHC2 0 0 1 0 0 0 0 0 0 1
ELP2 0 0 1 0 0 0 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 0 0 0 0 1
EYS, LOC129996683 0 1 0 0 0 0 0 0 0 1
EYS, LOC132089415 1 0 0 0 0 0 0 0 0 1
EYS, LOC132089415, LOC132089416 1 0 0 0 0 0 0 0 0 1
EYS, LOC132089417 0 1 0 0 0 0 0 0 0 1
EYS, LOC132089417, LOC132089418, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132090758, LOC132090759, LOC132205963 1 0 0 0 0 0 0 0 0 1
EYS, LOC441155 1 0 0 0 0 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 0 1
FNDC4, GCKR, IFT172 0 0 1 0 0 0 0 0 0 1
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 0 0 0 0 1
FUCA1, HMGCL 1 0 0 0 0 0 0 0 0 1
G6PD 1 0 0 0 0 0 0 0 0 1
GALE, HMGCL 0 0 0 0 1 0 0 0 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 0 0 0 1
GCDH, KLF1 1 0 0 0 0 0 0 0 0 1
GCDH, KLF1, LOC117125594 1 0 0 0 0 0 0 0 1 1
GCH1, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, MIR4308 0 0 1 0 0 0 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010, LOC130001538, LOC130001539, LOC130001540, LOC130001541, LOC130001542, LOC130001543, LOC130001544, LOC130001545 0 0 1 0 0 0 0 0 0 1
GLDC, LOC113839554, LOC126860573, LOC130001537, LOC130001538 1 0 0 0 0 0 0 0 0 1
GLDC, LOC113839554, LOC130001537, LOC130001538 0 0 1 0 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 0 0 0 1 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 0 0 0 0 0 0 0 0 1
HAO2, HSD3B1, HSD3B2, PHGDH, TBX15, WARS2, ZNF697 1 0 0 0 0 0 0 0 0 1
HGD, LOC126806786 0 1 0 0 0 0 0 0 0 1
HGSNAT, LOC121740716, LOC130000316, LOC130000317, LOC130000318, LOC130000319, LOC130000320, LOC130000321, POMK 0 0 1 0 0 0 0 0 0 1
HGSNAT, POTEA 0 0 1 0 0 0 0 0 0 1
HKDC1 0 0 0 0 1 0 0 0 0 1
HKDC1, LOC101928994 1 0 0 0 0 0 0 0 0 1
HTRA2, LOC129934141 0 1 0 0 0 0 0 0 0 1
IQSEC2 1 0 0 0 0 0 0 0 0 1
ISCA1 1 1 1 0 0 0 0 0 1 1
KCTD3, USH2A 0 0 1 0 0 0 0 0 0 1
KIF11 1 0 0 0 0 0 0 0 0 1
LARGE1 1 0 0 0 0 0 0 0 0 1
LIAS, LOC112939935, LOC129992453 0 0 1 0 0 0 0 0 0 1
LIAS, RPL9 0 0 1 0 0 0 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 0 0 0 1
LINC02245, SLC1A4 0 1 0 0 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 1 0 0 0 0 0 0 0 0 1
LOC111828517, RAB28 0 0 1 0 0 0 0 0 0 1
LOC112163638, LOC124946329, PCCA 0 1 0 0 0 0 0 0 0 1
LOC112806037, LOC122817727, LOC129934574, LOC129934575, MERTK, TMEM87B 1 0 0 0 0 0 0 0 0 1
LOC112806037, LOC122817727, MERTK 1 0 0 0 0 0 0 0 0 1
LOC112806037, LOC129934573, MERTK 0 1 0 0 0 0 0 0 0 1
LOC121530581, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LYSMD2, SCG3, TMOD2 0 0 1 0 0 0 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 0 0 0 1
LOC124946329, PCCA 1 0 0 0 0 0 0 0 0 1
LOC125177355, LOC132090431, LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 0 0 0 1
LOC125384566, LOC130065345, LOC130065346, LOC130065347, MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 0 0 0 1
LOC126806801, UROC1 0 0 0 0 1 0 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 0 0 0 1
LOC126862422, LOC130059554, LOC130059555, MLYCD 1 0 0 0 0 0 0 0 0 1
LOC126863212, OFD1 0 0 1 0 0 0 0 0 0 1
LOC129937585, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 0 0 0 1
LOC129994570, LOC129994571, LOC129994572, SLC22A5 1 0 0 0 0 0 0 0 0 1
LOC130010061, PCCA 0 0 0 1 0 0 0 0 0 1
LOC130055319, LOC130055320, LOC130055321, LOC130055322, LOC130055323, LOC130055324, SLC7A7 1 0 0 0 0 0 0 0 0 1
LOC130057872, RLBP1 0 1 0 0 0 0 0 0 0 1
LOC130059554, LOC130059555, MLYCD 1 0 0 0 0 0 0 0 0 1
LOC130061991, PYCR1 0 0 1 0 0 0 0 0 0 1
LOC130066413, PRPF6 0 0 0 0 1 0 0 0 0 1
LOC132090428, LOC132090429, WWOX 1 0 0 0 0 0 0 0 0 1
LOC132090430, WWOX 1 0 0 0 0 0 0 0 0 1
MADD 1 0 0 0 0 0 0 0 0 1
MAN2B1 1 0 0 0 0 0 0 0 0 1
MAOA, MAOB, NDP 1 0 0 0 0 0 0 0 0 1
MAT1A 0 0 1 0 0 0 0 0 0 1
MERTK, MKS1 1 0 0 0 0 0 0 0 0 1
MERTK, TMEM87B 0 0 0 0 0 0 0 0 1 1
MIR3936HG, SLC22A5 0 0 0 0 1 0 0 0 0 1
MLKL 0 0 0 1 0 0 0 0 0 1
MLYCD, NECAB2, OSGIN1, SLC38A8 1 0 0 0 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 0 1
NCF2 0 0 0 0 1 0 0 0 0 1
NYX 0 0 1 0 0 0 0 0 0 1
OXA1L, SLC7A7 1 0 0 0 0 0 0 0 0 1
P3H2 1 0 0 0 0 0 0 0 0 1
P4HA2, PDLIM4, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 0 1
PCDH15 0 1 0 0 0 0 0 0 0 1
PEX16 0 0 1 0 0 0 0 0 0 1
POC1B 1 0 0 0 0 0 0 0 0 1
POC5 0 0 1 0 0 0 0 0 0 1
PRDX1 0 0 0 0 1 0 0 0 0 1
PRPF8, RILP 0 1 1 0 0 0 0 0 0 1
PTS, TEX12 1 1 1 0 0 0 0 0 0 1
RNF167 0 0 0 0 1 0 0 0 0 1
SCAPER 1 0 0 0 0 0 0 0 0 1
SEMA6B 0 1 0 0 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 0 1
SLC36A1, SLC36A2 0 0 0 0 0 1 0 0 0 1
SPTAN1 0 0 0 0 0 0 0 0 1 1
SSBP1 1 0 0 0 0 0 0 0 0 1
TEAD3, TULP1 1 0 0 0 0 0 0 0 0 1
ZDHHC15 0 0 1 0 0 0 0 0 0 1
ZNF335 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 398
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele other not provided total
Invitae 7280 2333 16819 31408 2867 0 0 1 0 60706
Illumina Laboratory Services, Illumina 113 46 7276 998 1914 0 0 0 0 10254
Baylor Genetics 1813 2535 369 1 0 0 0 0 0 4716
Natera, Inc. 690 205 2419 663 509 0 0 0 0 4486
Fulgent Genetics, Fulgent Genetics 609 383 1644 742 93 0 0 0 0 3471
Genome-Nilou Lab 395 415 1021 356 1069 0 0 0 0 3256
Counsyl 317 1407 1115 156 11 0 0 0 0 3006
OMIM 1597 0 6 0 4 10 0 0 0 1617
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 875 468 1 0 0 0 0 0 0 1344
Revvity Omics, Revvity 353 287 544 4 0 0 0 0 0 1188
ClinGen PAH Variant Curation Expert Panel 308 247 185 4 17 0 0 0 0 761
Myriad Genetics, Inc. 77 548 34 0 0 0 0 0 0 659
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 86 41 121 62 227 0 0 0 0 537
Mendelics 259 107 55 28 53 0 0 0 0 502
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 116 136 113 3 9 0 0 0 0 375
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 113 22 200 2 15 0 0 0 0 352
GeneReviews 20 0 0 0 1 0 0 0 324 345
Ocular Genomics Institute, Massachusetts Eye and Ear 94 140 108 1 1 0 0 0 0 344
3billion 162 90 76 0 0 0 0 0 0 328
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 74 155 73 0 0 0 0 0 0 301
Institute of Human Genetics, University of Leipzig Medical Center 84 83 105 8 1 0 0 0 0 281
Molecular Genetics Laboratory, Institute for Ophthalmic Research 268 5 6 0 1 0 0 0 0 276
Sharon lab, Hadassah-Hebrew University Medical Center 172 84 0 0 0 0 0 0 0 256
NIHR Bioresource Rare Diseases, University of Cambridge 39 162 22 2 0 0 0 0 0 225
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 36 109 46 9 14 0 0 0 0 214
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 43 54 116 0 0 0 0 0 0 212
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 205 3 0 0 4 0 0 0 0 212
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 49 56 56 16 28 0 0 0 0 205
Centre for Mendelian Genomics, University Medical Centre Ljubljana 50 39 105 2 1 0 0 0 0 196
DBGen Ocular Genomics 70 49 72 0 2 0 0 0 0 193
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 103 23 62 2 0 0 0 0 0 190
Elsea Laboratory, Baylor College of Medicine 76 52 43 5 0 0 0 0 0 176
New York Genome Center 21 23 126 0 0 0 0 0 0 170
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 168 0 0 0 0 0 0 0 169
Giacomini Lab, University of California, San Francisco 5 9 109 27 0 0 0 0 0 150
Genomic Research Center, Shahid Beheshti University of Medical Sciences 49 33 60 1 0 0 0 0 0 143
MGZ Medical Genetics Center 36 56 49 0 0 0 0 0 0 141
Blueprint Genetics 52 51 11 0 0 0 0 0 0 114
University Children's Hospital, University of Zurich 108 0 1 0 0 0 0 0 0 109
Pars Genome Lab 1 1 9 16 80 0 0 0 0 107
Department of Pediatrics, Gifu University 44 44 18 0 0 0 0 0 0 106
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 63 6 32 0 0 0 0 0 0 101
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 63 19 17 0 1 0 0 0 0 100
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 54 35 9 0 0 0 0 0 0 98
Genetics and Molecular Pathology, SA Pathology 38 29 28 1 0 0 0 0 0 96
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 2 2 21 65 0 0 0 0 94
Department of Ophthalmology and Visual Sciences Kyoto University 35 58 0 0 0 0 0 0 0 93
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 57 33 0 0 0 0 0 0 0 90
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 47 31 1 0 0 0 0 0 0 79
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 26 21 30 0 0 0 0 0 0 77
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 44 24 4 0 0 0 0 0 0 72
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 7 2 4 34 25 0 0 0 0 72
Genomics England Pilot Project, Genomics England 40 32 0 0 0 0 0 0 0 72
Genetic Services Laboratory, University of Chicago 49 22 0 0 0 0 0 0 0 71
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 23 41 7 0 0 0 0 0 0 71
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 28 33 8 0 0 0 0 0 0 69
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 62 2 1 0 2 0 0 0 0 67
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 30 27 8 1 0 0 0 0 0 66
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 5 42 5 0 0 0 0 0 63
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 62 62
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland 57 4 0 0 0 0 0 0 0 61
Centogene AG - the Rare Disease Company 21 17 21 0 0 0 0 0 0 59
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 0 0 0 58
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 36 12 10 0 0 0 0 0 0 58
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 0 0 0 9 57
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 31 24 1 0 0 0 0 0 0 56
Laboratory of Metabolic Disorders, Peking University First Hospital 20 24 9 0 0 0 0 0 0 53
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 20 17 12 0 0 0 0 0 0 49
Génétique des Maladies du Développement, Hospices Civils de Lyon 19 20 5 3 0 0 0 0 0 47
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 23 23 0 0 0 0 0 0 0 46
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 18 23 6 0 0 0 0 0 0 46
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 46 46
SingHealth Duke-NUS Institute of Precision Medicine 14 10 17 3 1 0 0 0 0 45
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 21 24 0 0 0 0 0 0 0 45
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 25 17 1 0 0 0 0 0 0 43
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 38 1 0 0 0 0 0 40
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 20 6 14 0 0 0 0 0 0 40
Knight Diagnostic Laboratories, Oregon Health and Sciences University 21 13 5 1 0 0 0 0 0 40
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 38 38
INSERM U1051, Institut des Neurosciences de Montpellier 14 14 9 0 0 0 0 0 0 37
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 27 9 0 0 0 0 0 0 0 36
DASA 27 9 0 0 0 0 0 0 0 36
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 19 6 10 0 0 0 0 0 0 35
Genome Diagnostics Laboratory, University Medical Center Utrecht 13 0 0 7 14 0 0 0 0 34
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 14 9 0 0 0 0 0 0 34
Baumgartner lab, University Children's Hospital Zurich 33 0 0 0 0 0 0 0 0 33
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 32 32
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 7 9 15 0 0 0 0 0 0 31
Undiagnosed Diseases Network, NIH 17 6 9 0 0 0 0 0 0 31
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 19 12 0 0 0 0 0 0 0 31
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 13 9 6 2 0 0 0 0 0 30
Institute of Medical Molecular Genetics, University of Zurich 7 22 0 0 0 0 0 0 0 29
Lifecell International Pvt. Ltd 13 16 0 0 0 0 0 0 0 29
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 4 10 13 0 1 0 0 0 0 28
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 18 6 4 0 0 0 0 0 0 28
Institute of Human Genetics, University Hospital Muenster 13 5 7 1 2 0 0 0 0 28
SIB Swiss Institute of Bioinformatics 0 17 7 1 2 0 0 0 0 27
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 7 12 7 0 0 0 0 0 0 26
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 5 21 0 0 0 0 0 0 0 26
Center for Molecular Medicine, Children’s Hospital of Fudan University 16 9 0 0 0 0 0 0 0 25
Suma Genomics 9 11 5 0 0 0 0 0 0 25
Molecular Genetics laboratory, Necker Hospital 24 0 0 0 0 0 0 0 0 24
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 7 4 5 5 1 0 0 0 0 22
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 17 2 3 0 0 0 0 0 0 22
National Institute of Mental Health and Neurosciences 8 7 4 0 2 0 0 0 0 21
Reproductive Health Research and Development, BGI Genomics 17 0 2 0 2 0 0 0 0 21
Department of Laboratory Medicine, Yonsei University College of Medicine 0 20 0 0 0 0 0 0 0 20
Division of Human Genetics, Children's Hospital of Philadelphia 10 6 3 0 0 0 0 0 0 19
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 4 2 11 1 1 0 0 0 0 19
Mayo Clinic Laboratories, Mayo Clinic 3 0 14 1 0 0 0 0 0 18
Molecular Genetics Lab, CHRU Brest 9 7 1 0 0 0 0 0 0 17
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 9 2 2 0 4 0 0 0 0 17
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 0 16 16
Clinical Genomics Program, Stanford Medicine 5 2 9 0 0 0 0 0 0 16
Molecular Genetics, Royal Melbourne Hospital 4 7 4 0 1 0 0 0 0 16
Institute of Human Genetics, University of Goettingen 1 4 10 0 0 0 0 0 0 15
Hadassah Hebrew University Medical Center 5 10 0 0 0 0 0 0 0 15
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 6 5 3 0 0 0 0 0 0 14
UCLA Clinical Genomics Center, UCLA 5 9 0 0 0 0 0 0 0 14
Johns Hopkins Genomics, Johns Hopkins University 7 3 4 0 0 0 0 0 0 14
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 9 5 0 0 0 0 0 0 14
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 7 2 4 0 0 0 0 0 0 13
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 4 6 3 0 0 0 0 0 0 13
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 3 0 1 0 0 0 0 0 12
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 6 6 0 0 0 0 0 0 0 12
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 3 5 0 0 0 0 0 0 12
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 12 0 0 0 0 0 0 0 0 12
Institute of Human Genetics, Cologne University 4 3 4 0 0 0 0 0 0 11
SNPedia 11 0 0 0 0 0 0 0 0 11
Color Diagnostics, LLC DBA Color Health 1 1 0 3 6 0 0 0 0 11
National Newborn Screening Laboratory, Hospital Nacional de Niños 9 1 1 0 0 0 0 0 0 11
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 0 0 0 11
Ege University Pediatric Genetics, Ege University 3 1 7 0 0 0 0 0 0 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 4 6 0 0 0 0 11
Pediatric Department, Xiangya Hospital, Central South University 4 4 3 0 0 0 0 0 0 11
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 1 6 0 0 0 0 0 0 11
Pangenia Genomics, Pangenia Inc. 5 2 4 0 0 0 0 0 0 11
Duke University Health System Sequencing Clinic, Duke University Health System 3 5 2 0 0 0 0 0 0 10
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 1 2 0 0 0 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 5 0 0 0 0 0 0 0 10
Institute of Human Genetics, University Hospital of Duesseldorf 4 2 4 0 0 0 0 0 0 10
Caldovic Lab, Children's National Health System 0 10 0 0 0 0 0 0 0 10
Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 5 5 0 0 0 0 0 0 0 10
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 5 4 1 0 0 0 0 0 0 10
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 3 4 0 0 0 0 0 0 9
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 9 0 0 0 0 0 0 0 9
Breda Genetics srl 0 2 6 1 0 0 0 0 0 9
NxGen MDx 1 7 1 0 0 0 0 0 0 9
Child Health and Human Development Program, Research Institute of the McGill University Health Center 9 0 0 0 0 0 0 0 0 9
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 0 0 8
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 4 3 1 0 0 0 0 0 0 8
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 8 0 0 0 0 0 0 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 1 0 0 0 0 0 0 0 8
Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale 8 0 0 0 0 0 0 0 0 8
Neurology Department, Peking University First Hospital 6 0 2 0 0 0 0 0 0 8
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 2 6 0 0 0 0 0 0 8
Kids Research, The Children's Hospital at Westmead 5 2 1 0 0 0 0 0 0 8
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 3 5 0 0 0 0 0 0 8
Department of Urology, Hunan Children's Hospital 0 4 4 0 0 0 0 0 0 8
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 3 4 0 0 0 0 0 0 0 7
CSER _CC_NCGL, University of Washington 0 1 3 3 0 0 0 0 0 7
Center for Medical Genetics Ghent, University of Ghent 0 5 2 0 0 0 0 0 0 7
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 6 0 0 0 0 0 0 0 7
Moosajee Lab, UCL Institute of Ophthalmology 2 4 1 0 0 0 0 0 0 7
Molecular Biology Laboratory, Fundació Puigvert 3 4 0 0 0 0 0 0 0 7
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 4 3 0 0 0 0 0 0 0 7
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 2 4 0 0 0 0 0 0 0 6
Simons Lab, The University of Queensland 5 1 0 0 0 0 0 0 0 6
Bonnen Lab, Baylor College of Medicine 6 0 0 0 0 0 0 0 0 6
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 6 0 0 0 0 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 2 3 1 0 0 0 0 0 0 6
Cavalleri Lab, Royal College of Surgeons in Ireland 4 2 0 0 0 0 0 0 0 6
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 3 3 0 0 0 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 0 0 0 6
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 4 2 0 0 0 0 0 0 0 6
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 2 3 1 0 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 3 3 0 0 0 0 0 0 6
Arcensus 1 5 0 0 0 0 0 0 0 6
Genetic Medical Diagnostic Laboratory CellGenetics, GMDL CellGenetics 2 4 0 0 0 0 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 1 0 0 0 0 0 0 0 5
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 4 1 0 0 0 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 2 0 0 0 0 0 0 5
Center of Medical Genetics, Central South University 2 3 0 0 0 0 0 0 0 5
Laboratory of Medical Genetics, University of Torino 2 3 0 0 0 0 0 0 0 5
Genetics Laboratory, Department of Biology, Semnan University 3 2 0 0 0 0 0 0 0 5
College of Medicine Research Centre, King Saud Univeristy 1 2 2 0 0 0 0 0 0 5
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 3 0 0 0 0 0 0 0 5
Sydney Genome Diagnostics, Children's Hospital Westmead 2 1 2 0 0 0 0 0 0 5
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 3 0 0 0 0 0 0 0 5
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 4 0 0 0 0 0 0 0 0 4
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 0 0 2 4
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 2 0 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 1 0 0 0 0 0 0 4
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 4 0 0 0 0 0 0 0 4
Rui Chen Lab, Baylor College of Medicine 2 0 0 2 0 0 0 0 0 4
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 4 0 0 0 0 0 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 1 0 0 0 0 0 0 4
Phosphorus, Inc. 0 0 0 0 4 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 3 1 0 0 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 1 1 0 0 0 0 4
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 1 3 0 0 0 0 0 0 0 4
Leeds Institute of Medical Research, University of Leeds 4 0 0 0 0 0 0 0 0 4
Biochemistry Laboratory of CDMU, Chengde Medical University 4 0 0 0 0 0 0 0 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 1 0 0 0 0 0 0 0 4
Center of Excellence for Medical Genomics, Chulalongkorn University 2 1 1 0 0 0 0 0 0 4
Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid 4 0 0 0 0 0 0 0 0 4
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 0 0 0 0 0 0 0 4
Division of Biology and Genetics, University of Brescia 4 0 0 0 0 0 0 0 0 4
Biochemical Genetics Laboratory, National Taiwan University 1 3 0 0 0 0 0 0 0 4
Pediatrics, MediClubGeorgia 1 3 0 0 0 0 0 0 0 4
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 1 1 0 0 0 0 0 0 4
Medical Genetics Research Center, Mashhad University of Medical Sciences 1 3 0 0 0 0 0 0 0 4
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 2 2 0 0 0 0 0 0 0 4
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 1 1 0 0 0 0 0 0 4
Research and Counseling Department, Research Centre for Medical Genetics 0 3 1 0 0 0 0 0 0 4
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 2 1 0 0 0 0 0 0 4
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 2 1 0 0 0 0 0 0 4
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 3 0 0 0 0 0 0 4
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 0 4 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 2 0 0 0 0 0 0 3
Department of Molecular and Human Genetics, Baylor College of Medicine 3 0 0 0 0 0 0 0 0 3
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 1 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 1 1 0 0 0 0 0 0 3
Bruce Lefroy Centre, Murdoch Childrens Research Institute 2 1 0 0 0 0 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 2 0 0 0 0 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 1 0 0 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 3 0 0 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 0 0 0 3
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 0 0 0 3
Department of Biotechnology and Microbiology, Karnatak University Dharwad 0 2 1 0 0 0 0 0 0 3
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 2 0 0 0 0 0 0 0 3
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 3 0 0 0 0 0 0 0 0 3
Shieh Lab, University of California, San Francisco 1 2 0 0 0 0 0 0 0 3
School of Computer Science, University of Waterloo 3 0 0 0 0 0 0 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 2 1 0 0 0 0 0 0 0 3
Beijing Obstetrics and Gynecology Hospital, Capital Medical University 1 2 0 0 0 0 0 0 0 3
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 0 0 0 0 3
Wuhan Primbio Medical Laboratory 1 2 0 0 0 0 0 0 0 3
Fatma Al Jasmi Lab, United Arab Emirates University 2 1 0 0 0 0 0 0 0 3
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 2 1 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 0 0 0 3
Biotechnology Lab, University of Central Punjab 2 0 0 0 1 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 0 0 2
Sema4, Sema4 0 2 0 0 0 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 1 1 0 0 0 0 0 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 1 1 0 0 0 0 0 0 0 2
Pediatric Diabetes Laboratory, Experimental and Clinical Research Center (ECRC) 0 0 0 0 0 0 0 0 2 2
Sydney Children's Hospital, SCHN 2 0 0 0 0 0 0 0 0 2
Science and Research Branch, Islamic Azad University, Islamic Azad University 0 2 0 0 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 0 0 0 0 2
Department of Medical Genetics, Gazi University 2 0 0 0 0 0 0 0 0 2
Heart Center, Academic Medical Center Amsterdam 1 0 0 0 1 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 0 0 0 2
National Reference Laboratory of Biochemistry, Pasteur Institute of Iran 2 0 0 0 0 0 0 0 0 2
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd 2 0 0 0 0 0 0 0 0 2
Servicio Extremeño de Salud, Hospital de Mérida 1 1 0 0 0 0 0 0 0 2
TIDEX, University of British Columbia 0 1 1 0 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 0 0 2
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 0 2 0 0 0 0 0 0 0 2
Genetic Medico-Diagnostic Laboratory Genica 1 1 0 0 0 0 0 0 0 2
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 2 0 0 0 0 0 0 0 0 2
laboratory of biochemistry, Caen University Hospital 2 0 0 0 0 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 2 0 0 0 0 0 0 0 0 2
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 2 0 0 0 0 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 1 1 0 0 0 0 0 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 0 0 0 0 0 0 2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 1 0 0 0 0 0 0 0 2
Molecular Medicine, University of Pavia 0 0 2 0 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 0 0 0 0 0 0 0 2
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 2 0 0 0 0 0 0 0 2
National Institute of Neuroscience, National Center of Neurology and Psychiatry 2 0 0 0 0 0 0 0 0 2
Department of Pediatrics, The First Affiliated Hospital, Jinan University 2 0 0 0 0 0 0 0 0 2
Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Provincial People’s Hospital 2 0 0 0 0 0 0 0 0 2
UF de génétique clinique, APHP Hôpital Armand Trousseau 0 2 0 0 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 0 0 0 2
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 2 0 0 0 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 0 0 2
Department of Pediatric Nephropathy, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology 2 0 0 0 0 0 0 0 0 2
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital 2 0 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 0 0 0 2
Molecular Genetics, University Hospital Bordeaux 1 1 0 0 0 0 0 0 0 2
Gansu Provincial Maternity and Child Care Hospital 0 2 0 0 0 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 1 1 0 0 0 0 0 0 2
University of British Columbia, BC Children's Hospital 0 2 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Edith Wolfson Medical Center 0 1 0 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 0 0 0 1
Northern Molecular Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 0 0 0 0 1 1
Central Laboratory, The First Affiliated Hospital, Jinan University 0 0 0 0 0 0 0 0 1 1
Personalis, Inc. 1 0 0 0 0 0 0 0 0 1
Chehab Lab, University of California, San Francisco 1 0 0 0 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 0 0 0 0 0 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 0 0 0 1
Sidra Medicine 0 0 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 0 0 0 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 0 0 0 0 0 0 0 0 1
Biochimie Génétique et moléculaire, CHUGA 1 0 0 0 0 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 0 0 0 0 0 0 1
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology 1 0 0 0 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas 1 0 0 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 0 1
Leiden Open Variation Database 0 1 0 0 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab), Kobe University Graduate School of Medicine 1 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 1
Medical Genetics Center, Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 0 1 0 0 0 0 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 1 0 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 0 1
Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation 1 0 0 0 0 0 0 0 0 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 0 0 0 0 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 0 0 1
Matlow's Ophthalmo-genetic Laboratory, Assaf Harofe Medical Center 1 0 0 0 0 0 0 0 0 1
National Institute for Data Science in Health and Medicine, School of Medicine, Xiamen University 1 0 0 0 0 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1 0 0 0 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 0 1
St George's Genomics Service, St George's University Hospitals NHS FT 1 0 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 0 1
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 1 0 0 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics, University Hospital Center Zagreb 1 0 0 0 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 1 0 0 0 0 0 0 0 1
Ro'ya Specialized Medical Laboratories, King Abdulaziz University 1 0 0 0 0 0 0 0 0 1
Alibakhshi Medical Genetics Laboratory, Kermanshah University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 1 0 0 0 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 0 0 0 1
Congenital and Hereditary Diseases, Charles Nicolle Hospital 0 1 0 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 0 0 1
Massachusetts General Hospital Undiagnosed Diseases Network, Massachusetts General Hospital 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 0 0 1
Pediatric EEG Lab, Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 0 1 0 0 1
Joe DiMaggio Children's Hospital, Memorial Healthcare System 1 0 0 0 0 0 0 0 0 1
Department Neonatology, Affiliated Hospital of Zunyi Medical University 0 1 0 0 0 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 0 0 0 1
Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 0 1 0 0 0 0 0 0 1
clinical biochemical genetics laboratory, stanford university 0 0 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Mashhad University of Medical Sciences 0 0 1 0 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 0 0 1
Human Genetics, Hazara University Mansehra 0 1 0 0 0 0 0 0 0 1
Department of Medical Genetics and Prenatal Diagnosis, Taizhou People's Hospital 1 0 0 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 0 0 0 1
Medical Research Center, Medical College, Shaoxing University 0 0 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 1
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 1 0 0 0 0 0 0 0 1
Department Of Ophthalmology, Xi'an People's Hospital 0 1 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 0 0 0 1

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