ClinVar Miner

Variants studied for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
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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 other not provided total
10704 9048 26809 30061 4953 10 1 472 75983

Gene and significance breakdown #

Total genes and gene combinations: 732
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
CACNA1A 191 94 986 1112 132 0 0 7 2464
GLDC 317 285 657 1093 65 0 0 4 2209
USH2A 377 630 742 186 93 0 0 4 1798
CPS1 152 188 392 1047 92 0 0 2 1735
CRB1 314 152 498 725 34 0 0 1 1632
CHD2 180 81 621 685 81 0 0 4 1620
PAH 573 484 286 335 38 0 0 8 1365
PCCA 177 181 380 590 40 0 0 6 1254
SLC22A5 191 187 438 433 30 0 0 4 1112
CBS 156 201 301 530 52 0 0 6 1109
PCCB 148 161 341 515 18 0 0 16 1085
TH 82 129 359 542 40 0 0 4 1039
HCFC1 6 1 111 672 255 0 0 0 1032
EYS 165 323 444 84 68 0 0 0 973
IFT172 43 26 458 421 26 0 0 0 952
SLC6A8 97 57 187 503 123 0 0 10 938
MTR 58 31 199 574 66 0 0 0 915
HGSNAT 92 35 259 484 22 0 0 0 877
HLCS 91 119 265 430 50 0 0 0 871
ASL 129 154 152 420 36 0 0 3 787
RPE65 153 38 251 363 25 0 0 0 785
MTRR 75 29 159 481 50 0 0 1 777
ADSL 57 29 502 181 31 0 0 3 775
ACSF3 110 122 187 404 48 0 0 0 774
PHGDH 79 28 256 429 24 0 0 0 768
MTHFR 139 55 162 413 38 0 0 3 746
ASS1 136 144 178 355 36 0 0 10 736
CTNS 120 96 197 324 60 0 0 7 732
SLC25A13 129 97 132 408 26 0 0 15 731
MCCC1 121 106 252 305 26 0 0 1 729
DBT 99 94 223 311 55 0 0 0 724
DHTKD1 42 20 382 249 37 0 0 1 721
SLC6A1 71 55 223 307 78 0 0 17 717
ABAT 21 26 314 291 70 0 0 1 692
IVD 82 125 182 334 38 0 0 0 686
BCKDHA 112 121 152 360 37 0 0 1 683
ACAT1 148 115 145 316 35 0 0 0 681
BCKDHB 142 129 158 293 50 0 0 3 681
SLC7A7 90 85 209 332 22 0 0 4 677
MCCC2 103 131 234 258 30 0 0 1 673
FAH 101 117 140 323 40 0 1 11 639
GCDH 190 165 114 276 12 0 0 10 628
AMT 78 86 188 317 13 0 0 3 610
OTC 151 101 138 216 44 0 0 0 607
BTD 166 168 194 200 14 0 0 6 603
SLC13A5 33 25 257 283 22 0 0 0 603
KCNB1 35 41 205 253 86 0 0 0 595
OCRL 64 30 108 312 47 0 0 32 571
NAGS 52 51 110 364 20 0 0 1 562
DLD 57 79 123 294 38 0 0 0 551
ALDH5A1 72 61 231 178 37 0 0 3 546
OAT 84 78 174 240 23 0 0 0 539
HGD 238 80 71 176 22 0 0 11 516
MMAA 81 62 179 201 22 0 0 16 511
ALDH18A1 35 21 305 155 25 0 0 3 510
CUBN 19 16 310 74 83 0 0 0 500
DHDDS 18 18 214 251 9 0 0 0 495
OPA3 9 17 287 146 36 0 0 5 487
HMGCL 62 54 127 245 14 0 0 0 466
DNM1 13 11 158 246 41 0 0 0 465
ARG1, MED23 76 61 145 207 8 0 0 1 464
GATM 17 13 223 192 23 0 0 3 452
CLPB 25 9 228 156 19 0 0 16 434
MMACHC 95 75 112 190 10 0 0 3 430
CRX 52 16 220 106 72 0 0 0 427
GAMT 59 45 171 191 11 0 0 7 422
MMAB 62 44 153 177 36 0 0 12 421
LMBRD1 28 22 110 235 24 0 0 2 407
MLYCD 30 3 138 225 26 0 0 1 406
SLC25A15 53 37 126 189 27 0 0 8 402
MMUT 139 115 123 28 15 0 0 31 395
GCH1 72 24 162 135 28 0 0 0 388
KCNA2 27 20 191 120 10 0 0 2 361
TAFAZZIN 45 47 142 141 10 0 0 0 358
EEF1A2 11 13 96 212 32 0 0 2 357
TAT 28 37 71 221 8 0 0 0 346
PSAT1 30 8 150 117 16 0 0 0 308
MMADHC 43 30 60 169 17 0 0 7 305
RPGR 162 121 23 7 5 0 0 0 304
HPD 30 9 58 195 25 0 0 0 296
PRODH 22 6 115 125 47 0 0 0 292
ABCD4 18 10 116 112 33 0 0 0 279
CNGB1 28 35 168 27 39 0 0 1 275
QDPR 27 16 82 130 19 0 0 0 264
ACADSB 18 19 150 52 44 0 0 1 261
SERAC1 34 15 113 91 31 0 0 2 261
PCARE 23 18 151 23 49 0 0 0 260
AHCY 8 4 115 112 17 0 0 0 238
SLC3A1 47 27 127 47 17 0 0 0 237
ALDH4A1 6 8 133 74 46 0 0 0 236
PTS 59 51 54 103 7 0 0 0 230
SLC6A9 5 3 84 117 16 0 0 3 225
PDE6A 40 23 130 12 28 0 0 0 217
ARL6 28 10 77 99 4 0 0 0 213
PDE6B 40 36 131 13 6 0 0 2 213
FAM161A 17 55 119 19 17 0 0 0 212
RHO 61 73 66 12 13 0 0 4 202
ACAD8 21 15 113 48 15 0 0 1 194
SCN8A 33 69 64 5 10 0 0 38 192
RP1 50 41 78 20 15 0 0 0 190
IMPG2 20 7 134 10 15 0 0 0 185
CERKL 31 74 77 12 15 0 0 0 180
IFT140 6 20 110 38 7 0 0 1 180
CDHR1 15 9 129 11 11 0 0 0 170
ATP6V0A2 10 0 98 9 42 0 0 8 164
PRPF31 50 49 47 9 13 0 0 0 163
IFT172, KRTCAP3 12 7 74 68 7 0 0 0 161
PRPF8 14 10 88 24 30 0 0 1 161
AUH 17 7 81 52 9 0 0 0 157
PSPH 3 1 86 48 20 0 0 0 154
ABCA4 76 45 25 0 20 0 0 3 152
PROM1 24 9 103 3 13 0 0 3 152
EYS, PHF3 44 68 56 9 3 0 0 0 151
CA5A 12 5 66 59 13 0 0 4 149
NECAP1 3 1 77 64 3 0 0 0 147
ALDH5A1, GPLD1, LOC129995978 18 2 68 56 3 0 0 0 146
HIBCH 20 21 57 43 16 0 0 0 144
RBP3 7 5 120 7 9 0 0 2 144
PRPH2 25 28 54 16 35 0 0 1 140
GAMT, LOC130062945 25 16 59 49 1 0 0 1 138
IFT172, LOC126806173 9 3 68 56 5 0 0 1 138
MERTK 29 23 62 10 17 0 0 0 135
GLUD1 11 5 74 42 14 0 0 0 134
TYR 76 62 18 6 3 0 0 4 132
GCDH, LOC117125594 24 24 26 63 7 0 0 0 130
SNRNP200 11 10 75 24 17 0 0 0 127
NR2E3 14 17 68 24 10 0 0 0 121
CD320 1 1 65 37 19 0 0 0 120
HAL 0 0 92 12 11 4 0 0 119
SLC7A9 24 17 64 12 13 0 0 0 119
BBS2 19 9 61 26 7 0 0 0 118
SLC1A1 2 1 89 6 19 0 0 0 117
MAOA 7 1 47 47 13 0 0 0 115
DNAJC19 10 8 46 43 5 0 0 1 110
ALDH6A1, BBOF1 7 0 58 15 29 0 0 0 106
TTC8 6 30 58 10 3 0 0 0 106
IFT140, LOC105371046 13 14 51 23 5 0 0 0 102
HGSNAT, LOC130000316 6 3 21 68 3 0 0 0 101
DNM1, LOC113839516 2 8 37 45 8 0 0 0 99
SLC1A3 3 0 46 7 45 0 0 0 98
WWOX 26 14 30 1 30 0 0 1 98
MCEE 5 4 30 54 9 0 0 3 94
PPM1K 2 0 56 26 9 0 0 0 92
CNGA1, LOC101927157 23 16 48 4 6 0 0 1 90
BCKDK 6 2 32 43 6 0 0 0 89
SEMA4A 3 0 56 20 14 0 0 0 87
LRAT 1 2 72 4 7 0 0 0 86
PCBD1 13 5 17 52 4 0 0 2 86
TOPORS 8 3 53 13 13 0 0 1 86
TULP1 18 17 47 1 7 0 0 0 86
RP2 22 17 29 7 12 0 0 0 85
SLC6A19 7 8 31 30 9 0 0 0 84
APRT 54 8 17 5 1 0 0 6 79
IMPDH1 6 6 47 14 9 0 0 0 79
MMAB, MVK 11 8 22 39 8 0 0 1 79
ACSF3, LOC125177393 7 9 17 46 5 0 0 0 78
LOC126861615, PAH 34 27 22 13 1 0 0 1 78
CLPB, LOC130006336 2 1 47 23 3 0 0 0 76
IFT172, LOC126806174 6 1 30 40 2 0 0 0 76
LOC111413029, TAT 3 10 10 54 0 0 0 0 76
AMT, NICN1 15 10 37 23 2 0 0 0 75
CFAP418 8 2 52 17 10 0 0 0 74
AIPL1 2 3 49 5 15 0 0 0 71
PRPF6 2 1 44 8 15 0 0 0 70
PREPL, SLC3A1 22 7 34 13 3 0 0 0 69
LOC126862422, MLYCD 3 2 22 39 3 0 0 0 65
LOC130059554, MLYCD 12 2 19 34 2 0 0 0 65
GCH1, LOC130055692 11 0 25 22 7 0 0 0 63
LOC129992304, QDPR 6 8 18 30 4 0 0 0 62
CYGB, PRCD 5 2 47 2 6 0 0 0 61
GRIN2D 6 8 43 4 2 0 0 1 61
RP1L1 12 9 8 7 23 0 0 0 58
LOC129930446, MMACHC 23 12 14 18 0 0 0 0 57
RLBP1 6 4 41 4 3 0 0 0 57
CTH 4 1 42 6 4 0 0 0 56
SAG 6 1 37 4 8 0 0 0 56
CACNA1A, LOC130063717 0 0 34 22 0 0 0 0 55
KLHL7 6 4 29 10 9 0 0 0 55
LOC121815974, OAT 10 9 8 31 1 0 0 0 55
CLPB, LOC126861258 7 2 24 22 1 0 0 4 54
EEF1A2, LOC132090595 1 0 25 23 3 0 0 0 52
GCDH, LOC126862860, SYCE2 10 11 19 22 3 0 0 2 51
POMGNT1, TSPAN1 12 6 24 2 8 0 0 1 51
SPATA7 9 0 34 0 8 0 0 0 50
GATM, LOC130056991 1 1 20 26 3 0 0 0 49
OFD1 6 0 17 22 3 0 0 0 48
SPR 11 6 29 0 2 0 0 0 48
GUCA1B 1 0 30 6 12 0 0 0 47
LOC122152296, USH2A 13 15 19 4 1 0 0 0 47
ROM1 1 0 33 9 6 0 0 0 47
CLRN1 13 29 4 0 0 0 0 1 44
LOC130064709, OPA3 2 5 17 20 3 0 0 1 44
CACNA1A, LOC126862864 5 4 19 16 1 0 0 1 43
CERKL, ITGA4 2 2 31 2 7 0 0 0 43
CHD2, LOC126862230 5 0 13 24 1 0 0 0 43
NRL 7 5 18 6 8 0 0 0 43
SLC1A2 4 6 27 1 6 0 0 0 43
BEST1 7 1 23 4 8 0 0 0 42
GCSH 4 1 21 11 6 0 0 0 42
LOC130006765, PTS 9 10 10 21 0 0 0 0 42
PRPF3 6 1 24 5 7 0 0 0 41
HPD, LOC126861662 4 1 5 29 3 0 0 0 40
IFT43 1 1 24 12 3 0 0 0 40
MAK 10 16 13 1 2 0 0 0 40
RGR 2 3 31 0 7 0 0 0 40
AARS1 11 3 17 6 1 0 0 2 39
ADK 2 3 22 5 8 0 0 0 39
AUH, LOC130002059 4 0 21 11 3 0 0 0 39
IDH3B 3 0 33 1 2 0 0 0 39
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 0 0 38
ALDH5A1, LOC129995978 5 2 17 14 1 0 0 0 37
ARG1 7 7 12 12 3 0 0 0 37
HCN1 10 6 20 4 0 0 0 1 37
FAH, LOC112272621 5 6 3 24 2 0 0 0 36
LOC130059555, MLYCD 4 2 10 21 1 0 0 0 36
CIZ1, DNM1 2 3 14 14 3 0 0 0 35
LOC126860392, RP1 6 8 14 4 6 0 0 0 34
CACNA1A, LOC126862865 3 0 6 21 3 0 0 0 32
GCSH, LOC130059495 0 1 19 9 4 0 0 0 32
CA4 1 0 15 9 7 0 0 0 31
PYCR1 16 7 5 1 2 0 0 1 31
DNM1, LOC130002698 2 1 10 15 2 0 0 0 30
HCFC1, LOC130068842 0 0 4 14 12 0 0 0 30
UNC119 0 0 12 4 14 0 0 0 30
CACNA1A, LOC126862866 2 0 8 19 0 0 0 0 29
GPR143 18 7 3 1 1 0 0 0 29
KIAA1549 5 1 3 9 11 0 0 0 29
ZNF513 1 1 25 2 0 0 0 0 29
PDE6G 2 0 15 3 8 0 0 0 28
ABHD14A-ACY1, ACY1 8 4 18 0 0 0 0 0 27
LOC126861440, NECAP1 0 1 12 13 1 0 0 0 27
SLC1A4 10 8 9 0 1 0 0 0 27
NPHP3-ACAD11, UBA5 15 8 4 0 1 0 0 0 25
AASS 11 6 7 1 0 0 0 0 24
DNM1, LOC130002699 1 0 11 9 3 0 0 0 24
GPHN, RDH12 7 6 7 1 3 0 0 0 24
GPHN, RDH12, ZFYVE26 4 2 15 2 1 0 0 0 24
GRID2 10 3 9 0 2 0 0 0 24
IFT140, LOC126862260 2 1 13 6 2 0 0 0 24
SLC38A8 8 10 6 1 1 0 0 0 24
CC2D2A 6 2 12 3 0 0 0 0 23
CEP290 12 3 8 0 0 0 0 0 23
RIC3, TUB 2 1 15 0 6 0 0 0 23
GRM1 5 0 5 7 5 0 0 0 22
LOC129998833, SLC25A13 2 4 12 7 0 0 0 1 22
DHTKD1, LOC130003343 1 0 14 6 0 0 0 0 21
LOC130055323, SLC7A7 3 4 5 10 1 0 0 0 21
SLC6A17 2 0 12 2 5 0 0 0 21
TIMM50 8 2 5 2 4 0 0 0 21
BEST1, FTH1 1 0 9 6 3 0 0 0 19
FAM161A, LOC129933843 0 7 9 2 1 0 0 0 19
LOC129934069, SPR 1 3 14 1 2 0 0 0 19
SLC6A20 0 0 18 1 0 0 0 0 19
ABCA4, LOC126805793 8 4 4 0 2 0 0 0 18
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 0 0 17
GGACT, PCCA 5 0 8 4 0 0 0 0 17
GUCA1A, GUCA1B 0 0 0 0 17 0 0 0 17
LOC129932886, MTR 1 1 2 13 0 0 0 0 17
ALDH4A1, LOC120893116 0 0 9 6 3 0 0 0 16
CLN3 8 6 3 0 0 0 0 0 16
DHX38 2 2 6 1 7 0 0 0 16
FGF12 2 3 10 1 2 0 0 0 16
GABRB1 3 5 6 1 2 0 0 0 16
APRT, GALNS 0 0 2 7 6 0 0 0 15
ARHGEF18 5 2 8 0 0 0 0 1 15
CFAP418, LOC130000784 2 0 11 2 1 0 0 0 15
DNAJC12 13 1 1 0 0 0 0 0 15
FSCN2 1 0 6 5 3 0 0 0 15
GLUD1, SHLD2 0 0 9 6 0 0 0 0 15
HK1 2 4 3 1 7 0 0 0 15
RP9 1 0 6 1 8 0 0 0 15
CERKL, LOC129935215 1 4 10 2 0 0 0 0 14
LOC129994569, MIR3936HG, SLC22A5 2 1 5 2 6 0 0 0 14
MAF, WWOX 1 1 4 1 8 0 0 0 14
REEP6 5 0 2 0 7 0 0 0 14
UROC1 4 0 3 4 3 0 0 0 14
GLUD1, LOC130004255, SHLD2 0 0 6 7 1 0 0 0 13
LOC126806368, MMADHC 0 1 2 8 2 0 0 0 13
LOC129938008, MCCC1 0 2 6 3 3 0 0 0 13
LOC130055324, SLC7A7 3 3 3 4 0 0 0 0 13
AGBL5 3 3 5 1 1 0 0 0 12
LOC130068202, RP2 5 1 5 2 0 0 0 0 12
SNX17, ZNF513 0 0 11 0 1 0 0 0 12
ALDH4A1, LOC129929550 1 1 6 4 1 0 0 0 11
CERKL, LOC129935214 3 4 5 1 1 0 0 0 11
IDH3A 9 2 2 0 0 0 0 0 11
PCDH19 0 10 1 0 0 0 0 0 11
SLC36A2 0 0 0 9 1 1 0 0 11
ASL, LOC129998526 1 1 0 7 1 0 0 0 10
BBS1, ZDHHC24 6 4 1 0 0 0 0 0 10
CACNA1F 4 2 3 1 0 0 0 0 10
CTNS, LOC130059980 0 0 6 1 3 0 0 0 10
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 7 0 3 0 0 0 10
RPGRIP1 6 4 0 0 0 0 0 0 10
SLC7A14 4 0 3 3 2 0 0 0 10
AHI1 4 4 1 0 0 0 0 0 9
ASS1, LOC130002809 0 0 7 1 1 0 0 0 9
ATP6V0A2, LOC130009117 0 1 6 1 1 0 0 0 9
DLD, LOC129999127 0 0 2 7 0 0 0 0 9
IMPDH1, LOC129999258 1 0 8 0 1 0 0 0 9
LOC113875008, OCRL 0 0 1 8 0 0 0 0 9
LOC129933377, ZNF513 0 0 8 1 0 0 0 0 9
LOC130009616, SLC25A15 0 0 7 1 1 0 0 0 9
ABAT, PMM2, TMEM186 1 0 6 0 0 0 0 1 8
GAMT, NDUFS7 1 0 0 3 4 0 0 1 8
INS, INS-IGF2, TH 1 0 0 2 5 0 0 0 8
LOC130004020, PCBD1 0 1 2 5 0 0 0 0 8
LOC130055387, NRL 2 2 4 0 1 0 0 0 8
LOC130060555, UNC119 0 0 6 1 1 0 0 0 8
MYO7A 2 3 3 0 0 0 0 0 8
SARDH 0 1 1 1 1 4 0 0 8
ALMS1 4 3 0 0 0 0 0 0 7
ARL3 3 0 4 0 1 0 0 0 7
CNGA1 0 0 6 0 1 0 0 0 7
FLVCR1 4 1 2 0 0 0 0 0 7
HLCS, LOC130066639 0 0 1 0 6 0 0 0 7
HSERVPRODH, PRODH 2 0 2 3 0 0 0 0 7
HTRA2 1 1 2 2 1 0 0 0 7
LOC130056226, SPATA7 0 0 6 0 1 0 0 0 7
POMGNT1 1 0 5 0 1 0 0 0 7
TTLL5 6 1 0 0 0 0 0 0 7
APRT, LOC130059760 4 2 0 0 0 0 0 0 6
ARL2BP 5 1 0 0 0 0 0 0 6
ATP6V1A 2 1 2 1 0 0 0 0 6
CACNA1A, LOC108663985 0 0 0 3 3 0 0 0 6
GUCY2D 2 3 1 0 0 0 0 0 6
HPD, LOC130009013 0 0 6 0 0 0 0 0 6
RCBTB1 0 4 2 0 0 0 0 0 6
ADGRV1 0 2 3 0 0 0 0 0 5
ATP6V0A2, LOC126861666 0 1 3 0 1 0 0 1 5
CFAP410 2 2 1 0 0 0 0 0 5
CUBN, LOC126860871 0 1 2 0 2 0 0 0 5
CUBN, LOC129390143 0 0 4 0 1 0 0 0 5
GLUD1, LOC130004254 0 0 1 4 1 0 0 0 5
LOC112806037, MERTK 3 0 2 0 0 0 0 0 5
LOC112841608, SNRNP200 0 0 3 0 2 0 0 0 5
LOC129993163, MMAA 0 0 5 0 0 0 0 0 5
LOC130001482, SLC1A1 0 0 2 3 0 0 0 0 5
MMACHC, PRDX1 4 0 1 0 0 0 0 0 5
NEK2 1 0 2 1 1 0 0 0 5
PRPF4 2 0 3 0 0 0 0 0 5
SUGCT 3 2 2 0 0 0 0 1 5
​intergenic 0 2 2 0 0 0 0 0 4
ABCA4, LOC126805794 3 1 1 0 0 0 0 0 4
ADAM9 4 0 0 0 0 0 0 0 4
ADK, LOC102723439 1 1 0 1 2 0 0 0 4
BBS1 2 1 2 0 0 0 0 0 4
BBS4 2 1 1 0 0 0 0 0 4
CDH23 1 2 1 0 0 0 0 0 4
CEP78 4 0 0 0 0 0 0 0 4
CNGA3 1 3 0 0 0 0 0 0 4
CNGB3 1 0 2 0 0 0 0 1 4
DNM1, LOC130002697 0 0 0 4 0 0 0 0 4
GALE, HMGCL 3 0 0 0 1 0 0 0 4
GNAT1 2 0 2 0 0 0 0 0 4
GUCA1A, GUCA1ANB-GUCA1A 1 3 0 0 0 0 0 0 4
IDH3B, LOC129391150 0 0 3 1 0 0 0 0 4
IMPG1 2 1 1 0 0 0 0 0 4
INS, TH 0 0 1 3 3 0 0 0 4
KIZ 1 0 0 3 0 0 0 0 4
LCA5 4 0 0 0 0 0 0 0 4
LOC114803470, SCN8A 0 0 3 1 0 0 0 0 4
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 0 0 4
LOC126863090, PRPF6 0 0 3 0 1 0 0 0 4
OCA2 0 4 0 0 0 0 0 0 4
PANK2 3 0 1 0 0 0 0 0 4
PRPF31, TFPT 2 1 1 0 0 0 0 0 4
RAX2 4 0 0 0 0 0 0 0 4
SMIM27, TOPORS 0 0 2 1 1 0 0 0 4
VPS13B 3 0 0 0 1 0 0 0 4
ZNF408 2 1 2 0 0 0 0 0 4
ASCL1, PAH 1 0 1 1 0 0 0 0 3
ASS1, LOC110121061 0 0 0 3 0 0 0 0 3
BBS12 0 2 1 0 0 0 0 0 3
CABP4 1 2 0 0 0 0 0 0 3
CHM 2 1 0 0 0 0 0 0 3
CNPY3-GNMT, GNMT 3 0 0 0 0 0 0 0 3
CTNS, LOC130059980, LOC130059981 3 0 0 0 0 0 0 0 3
CYP4V2 2 1 0 0 0 0 0 0 3
DCT 0 3 0 0 0 0 0 0 3
DHX38, LOC126862391 0 0 1 0 0 0 0 2 3
EEF1A2, KCNQ2 0 0 3 0 0 0 0 0 3
FAH, LOC130057734 0 0 1 0 2 0 0 0 3
GCH1, LOC130055688 0 0 0 2 1 0 0 0 3
GLDC, LOC113839554, LOC126860573, LOC130001537 3 0 0 0 0 0 0 0 3
GLDC, LOC130001539 0 0 2 1 0 0 0 0 3
GRIN2D, LOC130064855 0 0 2 1 0 0 0 0 3
HGSNAT, POMK 1 0 2 0 0 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 0 0 3
HTRA2, LOC129934143 1 0 2 0 0 0 0 0 3
IMPDH1, LOC107986845 0 0 3 0 0 0 0 0 3
KIZ, LOC130065509 2 0 1 0 0 0 0 0 3
KYNU 1 1 0 0 1 0 0 0 3
LOC126806272, SNRNP200 0 0 1 1 1 0 0 0 3
LOC129998225, RP9 0 1 1 1 0 0 0 0 3
LOC129998495, PSPH 0 0 3 0 0 0 0 0 3
NAGS, PYY 0 2 1 0 0 0 0 0 3
PHYH 2 2 0 0 0 0 0 0 3
PITPNM3 0 0 2 1 0 0 0 0 3
RIMS1 1 0 2 0 0 0 0 0 3
UQCRFS1 3 0 0 0 0 0 0 0 3
ACBD5 0 0 2 0 0 0 0 0 2
ADAMTS18 0 0 1 0 1 0 0 0 2
ALDH4A1, MIR4695 0 0 0 2 1 0 0 0 2
ALDH6A1 0 0 2 0 0 0 0 0 2
AMN 1 0 1 0 0 0 0 0 2
ARL6, EPHA6 1 0 1 0 0 0 0 0 2
ARSA 0 0 0 0 2 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 0 0 2
BBS10 1 1 0 0 0 0 0 0 2
BBS7 1 1 0 0 0 0 0 0 2
BCAT2 2 0 0 0 0 0 0 0 2
BCKDHB, ELOVL4, HMGN3, LCA5, LINC01621, PHIP, SH3BGRL2, TTK 2 0 0 0 0 0 0 0 2
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 1 0 0 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 0 0 2 0 0 0 0 0 2
CACNA2D4 2 0 0 0 0 0 0 0 2
CCT6A, CHCHD2, PHKG1, PSPH, SUMF2 0 0 2 0 0 0 0 0 2
CDH3 0 2 0 0 0 0 0 0 2
CDHR1, LOC130004216 0 0 1 1 0 0 0 0 2
CLCC1 1 0 0 0 0 0 0 1 2
CNNM4 0 0 2 0 0 0 0 0 2
CTH, LOC129930756 0 0 1 1 0 0 0 0 2
DGCR6, PRODH 1 0 1 0 0 0 0 0 2
EEF1A2, PPDPF 0 0 2 0 0 0 0 0 2
EML3, ROM1 0 0 2 0 0 0 0 0 2
EYS, LOC132089416 2 0 0 0 0 0 0 0 2
GCH1, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, MIR4308 1 0 1 0 0 0 0 0 2
GLDC, LOC130001538 1 0 1 0 0 0 0 0 2
GPR179 0 0 2 0 0 0 0 0 2
GRIN2D, LOC130064857 2 1 0 0 0 0 0 0 2
HKDC1 0 1 0 0 1 0 0 0 2
HKDC1, LOC126860950 0 1 1 0 0 0 0 0 2
HPS4 2 0 0 0 0 0 0 0 2
HTRA2, LOXL3 2 0 0 0 0 0 0 0 2
IQCB1 0 2 0 0 0 0 0 0 2
KIZ, LOC130065507 2 0 0 0 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 0 1 0 0 0 0 0 2
LOC126863089, PRPF6 0 0 1 0 1 0 0 0 2
LOC129933376, ZNF513 0 0 2 0 0 0 0 0 2
LOC130068098, RPGR 1 1 0 0 0 0 0 0 2
LURAP1L, TYRP1 1 1 0 0 0 0 0 0 2
MFSD8 0 1 1 0 0 0 0 0 2
NDUFA3, PRPF31, TFPT 2 0 0 0 0 0 0 0 2
NMNAT1 2 0 0 0 0 0 0 0 2
NPHP4 0 2 0 0 0 0 0 0 2
NRL, PCK2 0 0 2 0 0 0 0 0 2
OPA1 0 0 2 0 0 0 0 0 2
OTC, RPGR 1 0 1 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 0 2
PPT1 2 0 0 0 0 0 0 0 2
RAB28 1 1 0 0 0 0 0 0 2
RBFOX1 0 2 0 0 0 0 0 0 2
SAMD11 0 0 2 0 0 0 0 0 2
SCN2A 0 0 0 0 0 0 0 2 2
SLC24A1 2 0 0 0 0 0 0 0 2
SRGAP2 0 2 0 0 0 0 0 0 2
TDO2 2 0 0 0 0 0 0 0 2
TRPM1 0 0 2 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 0 0 2
TUB 0 0 2 0 0 0 0 0 2
USH1C 2 0 0 0 0 0 0 0 2
VSX2 1 0 1 0 0 0 0 0 2
VWA8 1 0 0 0 1 0 0 0 2
WDR19 0 0 2 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 1
A2ML1, ACSM4, AICDA, APOBEC1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, FAM90A1, FOXJ2, GDF3, LPCAT3, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, ZNF705A 1 0 0 0 0 0 0 0 1
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 1
ABAT, CARHSP1, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 0 0 1 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 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 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 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 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 1
ABCD1, BCAP31, IDH3G, L1CAM, PDZD4, PLXNB3, SLC6A8, SRPK3, SSR4 0 0 1 0 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 0 0 1 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 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 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 1
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 1 0 0 0 0 0 1
ABHD17C, ARNT2, CEMIP, FAH, MESD, ZFAND6 0 0 1 0 0 0 0 0 1
ABL1, ASS1, EXOSC2, FUBP3, PRDM12 0 0 1 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 1
ACAD11, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 0 0 1
ACAD8, IGSF9B, JAM3, NCAPD3, THYN1, VPS26B 1 0 0 0 0 0 0 0 1
ACADSB, ARMS2, ATE1, BTBD16, C10orf120, C10orf88, CUZD1, DMBT1, FAM24A, FAM24B, FGFR2, HTRA1, IKZF5, NSMCE4A, PLEKHA1, PSTK, TACC2 1 0 0 0 0 0 0 0 1
ACADSB, IKZF5, LOC130004876 0 0 0 0 1 0 0 0 1
ACADSB, LOC130004876 0 0 0 1 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 1
ACAT1, ACAT2 1 0 0 0 0 0 0 0 1
ACAT1, ATM, C11orf65, EXPH5, NPAT, POGLUT3 0 0 1 0 0 0 0 0 1
ACAT1, LOC129390351 1 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 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 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 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 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 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 1
ACSL6, CDC42SE2, CSF2, FNIP1, HINT1, IL3, LYRM7, P4HA2, PDLIM4, RAPGEF6, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 1
ACTB 0 1 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 1
ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, CBFA2T2, CDK5RAP1, CHMP4B, E2F1, EIF2S2, ITCH, NECAB3, PXMP4, RALY, SNTA1, SUN5, ZNF341 1 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 1
ACTRT1, DCAF12L1, LOC113875008, LOC121627978, LOC121853067, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 0 1
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 0 0 0 0 0 0 1
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 0 0 0 1
ADAM9, LOC130000261 1 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 1
ADGRA3 0 1 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 1
AFG2B, BLOC1S6, C15orf48, GATM, SLC30A4 0 0 1 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 1
AHR 1 0 0 0 0 0 0 0 1
AIFM1, RAB33A 0 0 1 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 1
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 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 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, MIR199B, MIR2861, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1 1 0 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 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 1
ALDH18A1, ENTPD1, TCTN3 1 0 0 0 0 0 0 0 1
ALDH18A1, LOC121815958 1 0 0 0 0 0 0 0 1
ALDH5A1, DCDC2, GPLD1, KAAG1, MRS2 0 0 1 0 0 0 0 0 1
ALDH5A1, LOC129995983 1 1 0 0 0 0 0 0 1
ALDH7A1 1 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 1
ALX3, KCNA10, KCNA2, KCNC4, LAMTOR5, PROK1, RBM15, SLC16A4, SLC6A17, UBL4B 1 0 0 0 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 0 0 0 1
AMT, GPX1, NICN1, RHOA, TCTA 0 0 1 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 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 1
APLN, OCRL, SASH3, XPNPEP2, ZDHHC9 0 0 1 0 0 0 0 0 1
APRT, GALNS, LOC130059760 0 0 0 1 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 1
ARFGEF2, CSE1L, DDX27, KCNB1, STAU1, ZNFX1 0 0 1 0 0 0 0 0 1
ARG1, CTAGE9, ENPP1, ENPP3, MED23, OR2A4 0 0 1 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 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 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 1
ARPC4, ARPC4-TTLL3, ATP2B2, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IL17RE, IRAK2, JAGN1, MTMR14, OGG1, PRRT3, RPUSD3, SEC13, SLC6A1, SLC6A11, TADA3, TATDN2, TTLL3, VHL 1 0 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 1
ASL, CRCP, KCTD7, RABGEF1, SBDS, TMEM248, TPST1 0 1 0 0 0 0 0 0 1
ASL, GUSB 1 0 0 0 0 0 0 0 1
ASL, LOC129998525 0 0 1 0 0 0 0 0 1
ASPA, CTNS, SHPK, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 0 0 0 1
ASPA, CTNS, SHPK, TRPV1, TRPV3 1 0 0 0 0 0 0 0 1
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 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 1
ATP1A3 0 1 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 1
ATP2B3, BGN, CCNQ, DUSP9, PNCK, SLC6A8 0 0 1 0 0 0 0 0 1
ATP5ME, MYL5, PDE6B, SLC49A3 1 0 0 0 0 0 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 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 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 1
ATP6V0A2, LOC130009117, TCTN2 0 0 0 0 1 0 0 0 1
AUH, NFIL3, ROR2 0 0 1 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 1
B3GAT3, ROM1 0 0 0 1 0 0 0 0 1
B3GNT8, BCKDHA 1 0 0 0 0 0 0 0 1
BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469 1 0 0 0 0 0 0 0 1
BBS2, OGFOD1 0 0 1 0 0 0 0 0 1
BBS9 0 1 0 0 0 0 0 0 1
BCAP31, SLC6A8 0 0 1 0 0 0 0 0 1
BDP1, MCCC2 0 0 1 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, ZNF490, ZNF564, ZNF791 1 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 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 1
BLOC1S1-RDH5, RDH5 0 1 0 0 0 0 0 0 1
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A 1 0 0 0 0 0 0 0 1
BTD, COLQ, HACL1 1 0 0 0 0 0 0 0 1
C1orf167, MTHFR 0 0 1 0 0 0 0 0 1
C3AR1, CLEC4C, DPPA3, FOXJ2, GDF3, NANOG, NANOGNB, NECAP1, SLC2A14, SLC2A3 0 0 1 0 0 0 0 0 1
C3AR1, NECAP1 0 0 1 0 0 0 0 0 1
CA5A, JPH3, KLHDC4, SLC7A5 0 0 1 0 0 0 0 0 1
CACNA1A, IER2, NACC1, STX10 0 0 1 0 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 0 0 1
CCDC39, DNAJC19, FXR1 1 0 0 0 0 0 0 0 1
CDT1 0 0 0 1 0 0 0 0 1
CENPF 0 1 0 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 0 1
CEP78, GNA14, GNAQ, PSAT1, VPS13A 1 0 0 0 0 0 0 0 1
CEP89, SLC7A9 0 1 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 1
CFAP410, LOC130066823 1 1 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 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 1 0 0 0 0 0 0 0 1
CHRNA4 0 0 1 0 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 1 0 0 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 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 1
CLN8 1 0 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 1
CNGB1, LOC130059126 0 0 1 0 0 0 0 0 1
COL18A1 0 1 0 0 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 0 0 1
COL1A1 0 1 0 0 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 0 1
CRX, LINC01595, SULT2A1, TPRX1, TPRX2 0 0 1 0 0 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 0 0 1
CRX, TPRX2 0 0 0 1 1 0 0 0 1
CRYGS 1 0 0 0 0 0 0 0 1
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1 1 0 0 0 0 0 0 0 1
CTNS, LOC130059981 0 0 1 0 0 0 0 0 1
CTNS, SHPK 1 0 0 0 0 0 0 0 1
CTNS, SHPK, TAX1BP3 0 0 1 0 0 0 0 0 1
CTNS, SHPK, TRPV1 1 0 0 0 0 0 0 0 1
CTNS, TRPV1 0 0 0 0 1 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5 0 0 1 0 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5, XK 1 0 0 0 0 0 0 0 1
DBT, LOC129931021 0 0 1 0 0 0 0 0 1
DCDC2C 0 0 1 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 1
DEPDC1, RPE65 1 0 0 0 0 0 0 0 1
DGCR5, DGCR6, HSERVPRODH, LOC122455341, PRODH 1 0 0 0 0 0 0 0 1
DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 0 0 1
DHTKD1, LOC130003342, LOC130003343, LOC130003344, LOC130003345 0 0 1 0 0 0 0 0 1
DHX37 1 0 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 1
DLD, SLC26A3 1 0 0 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 0 0 1
DRAM2 0 1 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 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, SHF, SLC28A2, SORD, TERB2 0 0 1 0 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212 0 0 1 0 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 0 0 1 0 0 0 0 0 1
EFHC2 0 0 1 0 0 0 0 0 1
ELP2 0 0 1 0 0 0 0 0 1
ETHE1 0 1 0 0 0 0 0 0 1
ETV6, LOC126861452 1 0 0 0 0 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 0 0 0 1
EYS, LOC129996683 0 1 0 0 0 0 0 0 1
EYS, LOC132089415 1 0 0 0 0 0 0 0 1
EYS, LOC132089415, LOC132089416 1 0 0 0 0 0 0 0 1
EYS, LOC132089417 0 1 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 1
EYS, LOC441155 1 0 0 0 0 0 0 0 1
FA2H 0 1 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 1
FNDC4, GCKR, IFT172 0 0 1 0 0 0 0 0 1
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 0 0 0 1
FUCA1, HMGCL 1 0 0 0 0 0 0 0 1
G6PD 1 0 0 0 0 0 0 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 0 0 1
GCDH, KLF1 1 0 0 0 0 0 0 0 1
GCDH, KLF1, LOC117125594 1 0 0 0 0 0 0 1 1
GCK 1 0 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 1
GLDC, LOC113839554, LOC126860573, LOC130001537, LOC130001538 1 0 0 0 0 0 0 0 1
GLDC, LOC113839554, LOC130001537, LOC130001538 0 0 1 0 0 0 0 0 1
GLDC, LOC130001537 1 0 0 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 0 0 1 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 0 0 0 0 0 0 0 1
HAO2, HSD3B1, HSD3B2, PHGDH, TBX15, WARS2, ZNF697 1 0 0 0 0 0 0 0 1
HGD, LOC126806786 0 1 0 0 0 0 0 0 1
HGSNAT, LOC121740716, LOC130000316, LOC130000317, LOC130000318, LOC130000319, LOC130000320, LOC130000321, POMK 0 0 1 0 0 0 0 0 1
HGSNAT, POTEA 0 0 1 0 0 0 0 0 1
HKDC1, LOC101928994 1 0 0 0 0 0 0 0 1
HTRA2, LOC129934141 0 1 0 0 0 0 0 0 1
IQSEC2 1 0 0 0 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 0 1
KIF11 1 0 0 0 0 0 0 0 1
LARGE1 1 0 0 0 0 0 0 0 1
LIMK1 1 0 0 0 0 0 0 0 1
LINC02245, SLC1A4 0 1 0 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 1 0 0 0 0 0 0 0 1
LOC111828517, RAB28 0 0 1 0 0 0 0 0 1
LOC112163638, LOC124946329, PCCA 0 1 0 0 0 0 0 0 1
LOC112806037, LOC122817727, LOC129934574, LOC129934575, MERTK, TMEM87B 1 0 0 0 0 0 0 0 1
LOC112806037, LOC122817727, MERTK 1 0 0 0 0 0 0 0 1
LOC112806037, LOC129934573, MERTK 0 1 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 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 0 0 1
LOC124946329, PCCA 1 0 0 0 0 0 0 0 1
LOC125177355, LOC132090431, LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 0 0 1
LOC125384566, LOC130065345, LOC130065346, LOC130065347, MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 0 0 1
LOC126806801, UROC1 0 0 0 0 1 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 0 0 1
LOC126862422, LOC130059554, LOC130059555, MLYCD 1 0 0 0 0 0 0 0 1
LOC126863212, OFD1 0 0 1 0 0 0 0 0 1
LOC129937585, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 0 0 1
LOC129994570, LOC129994571, LOC129994572, SLC22A5 1 0 0 0 0 0 0 0 1
LOC130010061, PCCA 0 0 0 1 0 0 0 0 1
LOC130055319, LOC130055320, LOC130055321, LOC130055322, LOC130055323, LOC130055324, SLC7A7 1 0 0 0 0 0 0 0 1
LOC130057872, RLBP1 0 1 0 0 0 0 0 0 1
LOC130059554, LOC130059555, MLYCD 1 0 0 0 0 0 0 0 1
LOC130060550, SLC46A1 0 1 0 0 0 0 0 0 1
LOC130061991, PYCR1 0 0 1 0 0 0 0 0 1
LOC130066413, PRPF6 0 0 0 0 1 0 0 0 1
LOC132090428, LOC132090429, WWOX 1 0 0 0 0 0 0 0 1
LOC132090430, WWOX 1 0 0 0 0 0 0 0 1
MAN2B1 1 0 0 0 0 0 0 0 1
MAOA, MAOB, NDP 1 0 0 0 0 0 0 0 1
MAT1A 0 0 1 0 0 0 0 0 1
MERTK, MKS1 1 0 0 0 0 0 0 0 1
MERTK, TMEM87B 0 0 0 0 0 0 0 1 1
MIR3936HG, SLC22A5 0 0 0 0 1 0 0 0 1
MLKL 0 0 0 1 0 0 0 0 1
MLYCD, NECAB2, OSGIN1, SLC38A8 1 0 0 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 1
NCF2 0 0 0 0 1 0 0 0 1
NKX1-2, OAT 1 0 0 0 0 0 0 0 1
NYX 0 0 1 0 0 0 0 0 1
OXA1L, SLC7A7 1 0 0 0 0 0 0 0 1
P3H2 1 0 0 0 0 0 0 0 1
P4HA2, PDLIM4, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 1
PCDH15 0 1 0 0 0 0 0 0 1
PEX16 0 0 1 0 0 0 0 0 1
PNPO 0 1 0 0 0 0 0 0 1
POC1A 1 0 0 0 0 0 0 0 1
POC1B 1 0 0 0 0 0 0 0 1
POC5 0 0 1 0 0 0 0 0 1
PRDX1 0 0 0 0 1 0 0 0 1
PRPF8, RILP 0 1 1 0 0 0 0 0 1
PTS, TEX12 1 1 1 0 0 0 0 0 1
RNF167 0 0 0 0 1 0 0 0 1
SCAPER 1 0 0 0 0 0 0 0 1
SCN1B 0 1 0 0 0 0 0 0 1
SEMA6B 0 1 0 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 1
SLC36A1, SLC36A2 0 0 0 0 0 1 0 0 1
SLC66A1 0 0 1 0 0 0 0 0 1
SPTAN1 0 0 0 0 0 0 0 1 1
SSBP1 1 0 0 0 0 0 0 0 1
TEAD3, TULP1 1 0 0 0 0 0 0 0 1
ZDHHC15 0 0 1 0 0 0 0 0 1
ZNF335 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 397
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 6533 1966 15115 28035 2670 0 1 0 54319
Illumina Laboratory Services, Illumina 106 40 6858 957 1819 0 0 0 9687
Baylor Genetics 1751 2527 339 0 0 0 0 0 4614
Natera, Inc. 602 165 2095 572 445 0 0 0 3879
Fulgent Genetics, Fulgent Genetics 566 352 1575 721 88 0 0 0 3302
Genome-Nilou Lab 390 392 981 344 996 0 0 0 3103
Counsyl 306 1170 956 107 9 0 0 0 2548
OMIM 1449 0 7 0 4 10 0 0 1470
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 795 420 1 0 0 0 0 0 1216
Revvity Omics, Revvity 304 243 472 4 0 0 0 0 1023
ClinGen PAH Variant Curation Expert Panel 308 247 185 4 17 0 0 0 761
Myriad Genetics, Inc. 68 472 24 0 0 0 0 0 564
Mendelics 243 98 53 27 47 0 0 0 468
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 116 136 112 3 9 0 0 0 374
Ocular Genomics Institute, Massachusetts Eye and Ear 94 140 108 1 1 0 0 0 344
3billion 156 87 70 0 0 0 0 0 313
GeneReviews 19 0 0 0 1 0 0 288 308
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 27 13 50 46 168 0 0 0 304
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 117 81 94 7 4 0 0 0 303
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 74 155 73 0 0 0 0 0 301
Institute of Human Genetics, University of Leipzig Medical Center 84 86 106 8 1 0 0 0 285
Molecular Genetics Laboratory, Institute for Ophthalmic Research 268 5 6 0 1 0 0 0 276
Sharon lab, Hadassah-Hebrew University Medical Center 172 84 0 0 0 0 0 0 256
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 64 65 70 16 29 0 0 0 244
Neuberg Centre For Genomic Medicine, NCGM 48 63 125 0 0 0 0 0 234
NIHR Bioresource Rare Diseases, University of Cambridge 39 162 22 2 0 0 0 0 225
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 205 3 0 0 4 0 0 0 212
DBGen Ocular Genomics 70 49 72 0 2 0 0 0 193
Centre for Mendelian Genomics, University Medical Centre Ljubljana 47 37 100 2 1 0 0 0 186
Elsea Laboratory, Baylor College of Medicine 79 51 40 5 0 0 0 0 175
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 168 0 0 0 0 0 0 169
New York Genome Center 19 20 123 0 0 0 0 0 162
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 85 14 55 0 0 0 0 0 154
Giacomini Lab, University of California, San Francisco 5 9 109 27 0 0 0 0 150
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 80 57 2 0 0 0 0 0 139
Genomic Research Center, Shahid Beheshti University of Medical Sciences 50 29 55 1 0 0 0 0 135
MGZ Medical Genetics Center 31 44 42 0 0 0 0 0 117
Blueprint Genetics 52 51 11 0 0 0 0 0 114
University Children's Hospital, University of Zurich 108 0 1 0 0 0 0 0 109
Department of Pediatrics, Gifu University 44 44 18 0 0 0 0 0 106
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 68 26 6 2 0 0 0 0 102
Pars Genome Lab 1 1 8 14 78 0 0 0 102
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 63 6 32 0 0 0 0 0 101
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 54 35 9 0 0 0 0 0 98
Department of Ophthalmology and Visual Sciences Kyoto University 35 58 0 0 0 0 0 0 93
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 2 2 21 64 0 0 0 93
Genetics and Molecular Pathology, SA Pathology 34 26 24 0 0 0 0 0 84
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 45 29 5 0 0 0 0 0 79
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 45 32 0 0 0 0 0 0 77
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 23 41 7 0 0 0 0 0 71
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 7 2 4 33 25 0 0 0 71
Genomics England Pilot Project, Genomics England 40 31 0 0 0 0 0 0 71
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 24 18 29 0 0 0 0 0 71
All of Us Research Program, National Institutes of Health 1 1 40 28 1 0 0 0 71
Genetic Services Laboratory, University of Chicago 47 22 0 0 0 0 0 0 69
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 27 32 9 0 0 0 0 0 68
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 61 2 1 0 2 0 0 0 66
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 9 5 42 5 0 0 0 0 61
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland 57 4 0 0 0 0 0 0 61
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 0 0 58
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 0 0 9 57
Centogene AG - the Rare Disease Company 21 15 20 0 0 0 0 0 56
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 27 21 7 1 0 0 0 0 56
GenomeConnect, ClinGen 0 0 0 0 0 0 0 55 55
Laboratory of Metabolic Disorders, Peking University First Hospital 20 24 9 0 0 0 0 0 53
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 28 24 1 0 0 0 0 0 53
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 19 22 7 0 0 0 0 0 48
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 21 16 10 0 0 0 0 0 47
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 28 18 1 0 0 0 0 0 47
Génétique des Maladies du Développement, Hospices Civils de Lyon 19 20 5 3 0 0 0 0 47
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 27 10 8 0 0 0 0 0 45
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 19 24 0 0 0 0 0 0 43
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 43 43
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 20 21 0 0 0 0 0 0 41
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 38 1 0 0 0 0 40
MVZ Medizinische Genetik Mainz 5 13 22 0 0 0 0 0 40
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 20 5 14 0 0 0 0 0 39
SingHealth Duke-NUS Institute of Precision Medicine 14 7 14 2 1 0 0 0 38
INSERM U1051, Institut des Neurosciences de Montpellier 14 14 9 0 0 0 0 0 37
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 36 36
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 24 9 0 0 0 0 0 0 33
Knight Diagnostic Laboratories, Oregon Health and Sciences University 17 11 4 1 0 0 0 0 33
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 14 8 0 0 0 0 0 33
Baumgartner lab, University Children's Hospital Zurich 33 0 0 0 0 0 0 0 33
Genome Diagnostics Laboratory, University Medical Center Utrecht 13 0 0 7 12 0 0 0 32
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 32 32
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 21 4 7 0 0 0 0 0 32
DASA 25 7 0 0 0 0 0 0 32
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 7 9 15 0 0 0 0 0 31
Institute of Medical Molecular Genetics, University of Zurich 7 22 0 0 0 0 0 0 29
Molecular Genetics, Royal Melbourne Hospital 8 9 6 1 5 0 0 0 29
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 4 10 13 0 1 0 0 0 28
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 16 12 0 0 0 0 0 0 28
Lifecell International Pvt. Ltd 13 15 0 0 0 0 0 0 28
Undiagnosed Diseases Network, NIH 13 6 9 0 0 0 0 0 27
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 7 12 7 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 26
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 15 6 4 0 0 0 0 0 25
Institute of Human Genetics, University Hospital Muenster 12 3 7 1 2 0 0 0 25
Molecular Genetics laboratory, Necker Hospital 24 0 0 0 0 0 0 0 24
SIB Swiss Institute of Bioinformatics 0 15 5 1 2 0 0 0 23
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 7 3 5 5 1 0 0 0 21
National Institute of Mental Health and Neurosciences 8 7 4 0 2 0 0 0 21
Center for Molecular Medicine, Children’s Hospital of Fudan University 14 7 0 0 0 0 0 0 21
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 16 2 3 0 0 0 0 0 21
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 20 0 0 0 0 0 0 20
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 4 2 11 1 1 0 0 0 19
Suma Genomics 6 9 4 0 0 0 0 0 19
Division of Human Genetics, Children's Hospital of Philadelphia 10 5 3 0 0 0 0 0 18
Reproductive Health Research and Development, BGI Genomics 14 0 2 0 2 0 0 0 18
Mayo Clinic Laboratories, Mayo Clinic 3 0 13 1 0 0 0 0 17
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 10 2 5 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 17
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 16 16
Institute of Human Genetics, University of Goettingen 1 4 10 0 0 0 0 0 15
Clinical Genomics Program, Stanford Medicine 5 2 8 0 0 0 0 0 15
Molecular Genetics Lab, CHRU Brest 8 6 1 0 0 0 0 0 15
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 6 5 3 0 0 0 0 0 14
Hadassah Hebrew University Medical Center 5 9 0 0 0 0 0 0 14
Institute of Human Genetics, University Hospital of Duesseldorf 4 5 5 0 0 0 0 0 14
Johns Hopkins Genomics, Johns Hopkins University 7 2 4 0 0 0 0 0 13
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 9 4 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 13
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 6 6 0 0 0 0 0 0 12
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 3 5 0 0 0 0 0 12
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 12 0 0 0 0 0 0 0 12
Institute of Human Genetics, Cologne University 4 3 4 0 0 0 0 0 11
SNPedia 11 0 0 0 0 0 0 0 11
UCLA Clinical Genomics Center, UCLA 3 8 0 0 0 0 0 0 11
Color Diagnostics, LLC DBA Color Health 1 1 0 3 6 0 0 0 11
National Newborn Screening Laboratory, Hospital Nacional de Niños 9 1 1 0 0 0 0 0 11
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 0 0 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 4 6 0 0 0 11
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 1 6 0 0 0 0 0 11
Pangenia Genomics, Pangenia Inc. 5 2 4 0 0 0 0 0 11
Clinical Genomics Laboratory, Washington University in St. Louis 2 3 5 0 0 0 0 0 10
Duke University Health System Sequencing Clinic, Duke University Health System 3 5 2 0 0 0 0 0 10
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 1 2 0 0 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 5 0 0 0 0 0 0 10
Caldovic Lab, Children's National Health System 0 10 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 9
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 9 0 0 0 0 0 0 9
Ege University Pediatric Genetics, Ege University 3 1 5 0 0 0 0 0 9
Breda Genetics srl 0 2 6 1 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 9
Pediatric Department, Xiangya Hospital, Central South University 4 2 3 0 0 0 0 0 9
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 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 8
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 8 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 8
Neurology Department, Peking University First Hospital 6 0 2 0 0 0 0 0 8
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 2 6 0 0 0 0 0 8
NxGen MDx 1 7 0 0 0 0 0 0 8
Institute of Immunology and Genetics Kaiserslautern 6 1 1 0 0 0 0 0 8
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 5 3 0 0 0 0 0 0 8
Department of Urology, Hunan Children's Hospital 0 4 4 0 0 0 0 0 8
CSER _CC_NCGL, University of Washington 0 1 3 3 0 0 0 0 7
Center for Medical Genetics Ghent, University of Ghent 0 5 2 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 7
Moosajee Lab, UCL Institute of Ophthalmology 2 4 1 0 0 0 0 0 7
Molecular Biology Laboratory, Fundació Puigvert 3 4 0 0 0 0 0 0 7
Simons Lab, The University of Queensland 5 1 0 0 0 0 0 0 6
Bonnen Lab, Baylor College of Medicine 6 0 0 0 0 0 0 0 6
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 6 0 0 0 0 0 0 0 6
Cavalleri Lab, Royal College of Surgeons in Ireland 4 2 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 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 0 0 6
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 3 3 0 0 0 0 0 6
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 2 3 1 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 3 3 0 0 0 0 0 6
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 4 1 1 0 0 0 0 0 6
Arcensus 1 5 0 0 0 0 0 0 6
Laboratory Cellgenetics, GMDL Cellgenetics 2 4 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 5
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 4 1 0 0 0 0 0 0 5
Center of Medical Genetics, Central South University 2 3 0 0 0 0 0 0 5
Genomic Medicine Lab, University of California San Francisco 2 2 1 0 0 0 0 0 5
Laboratory of Medical Genetics, University of Torino 2 3 0 0 0 0 0 0 5
College of Medicine Research Centre, King Saud Univeristy 1 2 2 0 0 0 0 0 5
Sydney Genome Diagnostics, Children's Hospital Westmead 2 1 2 0 0 0 0 0 5
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 2 2 0 0 0 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 3 0 0 0 0 0 0 4
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 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 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 2 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 4
Rui Chen Lab, Baylor College of Medicine 2 0 0 2 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 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 1 0 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 3 1 0 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 1 1 0 0 0 4
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 1 3 0 0 0 0 0 0 4
Genetics Laboratory, Department of Biology, Semnan University 3 1 0 0 0 0 0 0 4
Leeds Institute of Medical Research, University of Leeds 4 0 0 0 0 0 0 0 4
Biochemistry Laboratory of CDMU, Chengde Medical University 4 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 4
Center of Excellence for Medical Genomics, Chulalongkorn University 2 1 1 0 0 0 0 0 4
Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid 4 0 0 0 0 0 0 0 4
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 0 0 0 0 0 0 4
Division of Biology and Genetics, University of Brescia 4 0 0 0 0 0 0 0 4
Biochemical Genetics Laboratory, National Taiwan University 1 3 0 0 0 0 0 0 4
Pediatrics, MediClubGeorgia 1 3 0 0 0 0 0 0 4
Precision Medicine Center, Zhengzhou University 3 0 1 0 0 0 0 0 4
Medical Genetics Research Center, Mashhad University of Medical Sciences 1 3 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 4
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 1 1 0 0 0 0 0 4
Research and Counseling Department, Research Centre for Medical Genetics 0 3 1 0 0 0 0 0 4
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 2 1 0 0 0 0 0 4
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 2 1 0 0 0 0 0 4
Department of Developmental Neurology, Medical University of Gdańsk 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 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 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 3
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 1 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 1 1 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 3
Phosphorus, Inc. 0 0 0 0 3 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 1 0 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 3 0 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 0 0 3
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 0 0 3
Kids Research, The Children's Hospital at Westmead 2 0 1 0 0 0 0 0 3
Department of Biotechnology and Microbiology, Karnatak University Dharwad 0 2 1 0 0 0 0 0 3
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 2 0 0 0 0 0 0 3
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 1 2 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 3
Shieh Lab, University of California, San Francisco 1 2 0 0 0 0 0 0 3
School of Computer Science, University of Waterloo 3 0 0 0 0 0 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 2 1 0 0 0 0 0 0 3
Beijing Obstetrics and Gynecology Hospital, Capital Medical University 1 2 0 0 0 0 0 0 3
Wuhan Primbio Medical Laboratory 1 2 0 0 0 0 0 0 3
Fatma Al Jasmi Lab, United Arab Emirates University 2 1 0 0 0 0 0 0 3
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 1 0 0 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 1 0 0 0 0 0 3
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 1 0 0 0 0 0 0 3
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 2 1 0 0 0 0 0 3
Biotechnology Lab, University of Central Punjab 2 0 0 0 1 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 0 0 2
Sema4, Sema4 0 2 0 0 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 1 1 0 0 0 0 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 1 1 0 0 0 0 0 0 2
Pediatric Diabetes Laboratory, Experimental and Clinical Research Center (ECRC) 0 0 0 0 0 0 0 2 2
Sydney Children's Hospital, SCHN 2 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 2
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 0 0 0 2
Department of Medical Genetics, Gazi University 2 0 0 0 0 0 0 0 2
Heart Center, Academic Medical Center Amsterdam 1 0 0 0 1 0 0 0 2
National Reference Laboratory of Biochemistry, Pasteur Institute of Iran 2 0 0 0 0 0 0 0 2
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd 2 0 0 0 0 0 0 0 2
Servicio Extremeño de Salud, Hospital de Mérida 1 1 0 0 0 0 0 0 2
TIDEX, University of British Columbia 0 1 1 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 0 2
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 0 2 0 0 0 0 0 0 2
Genetic Medico-Diagnostic Laboratory Genica 1 1 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 2
laboratory of biochemistry, Caen University Hospital 2 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 2
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 2 0 0 0 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 1 1 0 0 0 0 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 0 0 0 0 0 2
Molecular Medicine, University of Pavia 0 0 2 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 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 2
National Institute of Neuroscience, National Center of Neurology and Psychiatry 2 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 2
Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Provincial People’s Hospital 2 0 0 0 0 0 0 0 2
UF de génétique clinique, APHP Hôpital Armand Trousseau 0 2 0 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 0 0 2
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 2 0 0 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 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 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 2
Eurofins-Biomnis 1 1 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 2
Molecular Genetics, University Hospital Bordeaux 1 1 0 0 0 0 0 0 2
Gansu Provincial Maternity and Child Care Hospital 0 2 0 0 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 1 1 0 0 0 0 0 2
University of British Columbia, BC Children's Hospital 0 2 0 0 0 0 0 0 2
Dr. Nikuei Genetic Center 2 0 0 0 0 0 0 0 2
Laboratory of Basic Medicine, Dongfang Hospital of Xiamen University 0 2 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Edith Wolfson Medical Center 0 1 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 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 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 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 1
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 0 0 0 1 1
Central Laboratory, The First Affiliated Hospital, Jinan University 0 0 0 0 0 0 0 1 1
Personalis, Inc. 1 0 0 0 0 0 0 0 1
Chehab Lab, University of California, San Francisco 1 0 0 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 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 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 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 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 0 0 1
Sidra Medicine 0 0 0 1 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 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 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 1
Biochimie Génétique et moléculaire, CHUGA 1 0 0 0 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 0 0 0 0 0 1
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology 1 0 0 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 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 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 1
Leiden Open Variation Database 0 1 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 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 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 1
Pediatric Metabolic Diseases, Hacettepe University 0 1 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 1
Variantyx, Inc. 1 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 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 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 1
Institute of Human Genetics, Heidelberg University 0 1 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 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 0 0 0 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 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 1
Matlow's Ophthalmo-genetic Laboratory, Assaf Harofe Medical Center 1 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 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 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 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 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 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 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 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 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 1
Istanbul Faculty of Medicine, Istanbul University 0 1 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 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 1
Department of Pediatrics, University Hospital Center Zagreb 1 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 1
Heon Lab, The Hospital for Sick Children 0 1 0 0 0 0 0 0 1
Ro'ya Specialized Medical Laboratories, King Abdulaziz University 1 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 1
Department of Pediatrics, University of Modena and Reggio Emilia 1 0 0 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 1
Congenital and Hereditary Diseases, Charles Nicolle Hospital 0 1 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 1
Massachusetts General Hospital Undiagnosed Diseases Network, Massachusetts General Hospital 1 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 1
Pediatric EEG Lab, Tongji Hospital, Huazhong University of Science and Technology 1 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 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 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 1
Joe DiMaggio Children's Hospital, Memorial Healthcare System 1 0 0 0 0 0 0 0 1
Department Neonatology, Affiliated Hospital of Zunyi Medical University 0 1 0 0 0 0 0 0 1
University Medical Center Utrecht, University Utrecht 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 1
Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences 1 0 0 0 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 1
clinical biochemical genetics laboratory, stanford university 0 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Mashhad University of Medical Sciences 0 0 1 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 0 1
Human Genetics, Hazara University Mansehra 0 1 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 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 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 1
Medical Research Center, Medical College, Shaoxing University 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 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 0 1
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 1 0 0 0 0 0 0 1
Department Of Ophthalmology, Xi'an People's Hospital 0 1 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 0 0 0 1
Newborn Screening Center, Zibo Maternal and Child Health Care Hospital 0 1 0 0 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 0 0 1
Neonatal Intensive Care Unit, Jiangxi Provincial Children's Hospital 0 1 0 0 0 0 0 0 1

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