ClinVar Miner

Variants studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
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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 association association not found likely risk allele uncertain risk allele other not provided total
6584 5476 17075 20242 3097 21 1 2 131 140 8 347 47981

Gene and significance breakdown #

Total genes and gene combinations: 414
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found likely risk allele uncertain risk allele other not provided total
GAA 461 425 901 1080 87 0 0 0 0 0 3 9 2536
AGL 327 303 952 997 72 0 0 0 0 0 0 12 2469
MAN2B1 147 176 402 821 53 0 0 0 0 0 0 5 1458
PC 72 95 234 902 43 0 0 0 0 0 0 2 1277
IDUA 177 142 307 684 45 0 0 0 0 0 2 14 1239
PYGM 173 158 345 672 47 0 0 0 0 0 0 15 1239
HGSNAT 93 63 358 495 36 0 0 0 0 0 0 4 985
NAGLU 137 112 350 451 20 0 0 0 0 0 0 9 983
GALNS 189 192 357 338 41 0 0 1 0 0 0 9 949
SGSH 117 114 356 443 39 0 0 0 0 0 0 4 943
SLC37A4 112 84 417 376 26 0 0 0 0 0 0 3 941
GLB1 168 113 206 451 30 0 0 0 0 0 0 2 881
GBE1 130 109 222 472 32 0 0 0 0 0 0 5 867
HLCS 89 110 265 430 50 0 0 0 0 0 0 0 865
PHKB 63 33 251 482 41 0 0 0 0 0 0 2 829
PFKM 47 75 167 524 41 0 0 0 0 0 0 1 817
ABCC8 110 189 584 57 36 0 0 0 0 0 0 13 801
GNS 54 14 232 392 31 0 0 0 0 0 0 0 702
PRKAG2 13 7 298 356 28 0 0 0 0 0 0 0 694
ARSB 104 114 245 234 36 0 0 0 0 0 0 0 655
GALT 158 173 144 255 18 0 0 0 0 0 0 9 625
G6PD 118 174 128 252 36 0 0 0 0 0 0 2 618
BTD 164 156 195 200 14 0 0 0 0 0 0 6 591
MANBA 63 31 180 304 39 0 0 0 0 0 0 1 591
GCK 137 230 141 67 87 0 0 0 49 53 0 6 586
DLD 55 75 128 298 38 0 0 0 0 0 0 0 546
GUSB 56 28 158 310 24 0 0 0 0 0 1 0 546
LAMP2 87 17 230 153 75 0 0 0 0 0 0 1 542
G6PC1 109 81 169 215 26 0 0 0 0 0 0 8 534
GYS1 21 9 274 196 19 0 0 0 0 0 0 2 502
SLC17A5 74 78 126 233 29 0 0 0 0 0 0 2 493
VRK1 61 27 147 248 13 0 0 0 0 0 0 1 476
AGA 57 65 151 232 29 0 0 0 0 0 0 0 471
KCNJ2 41 17 254 119 46 0 0 0 0 0 0 8 469
CTSA 44 17 131 270 19 0 0 0 0 0 0 0 465
ALDOB 73 100 86 243 26 0 0 0 0 0 0 9 456
GALK1 58 59 87 286 16 0 0 0 0 0 0 0 453
AGXT 223 134 124 40 32 0 0 0 0 0 0 13 449
PDHA1 76 41 75 204 67 0 0 0 0 0 0 0 437
RBCK1 25 7 183 198 20 0 0 0 0 0 0 0 430
PHKA1 19 5 223 141 36 0 0 0 0 0 0 0 409
HNF1A 88 104 118 85 78 0 0 0 31 25 0 3 402
SLC5A1 16 8 183 172 39 0 0 0 0 0 0 0 394
HNF1B 145 78 87 69 44 0 0 0 19 17 0 0 378
IDS 112 49 72 138 26 6 0 0 0 0 0 3 368
IDS, LOC106050102 91 48 51 160 39 7 0 0 0 0 0 2 359
MAN1B1 22 5 170 148 42 0 0 0 0 0 0 0 353
SLC2A1 84 46 135 54 52 0 0 0 0 0 0 11 352
HNF4A 35 52 162 83 132 0 0 0 14 22 0 2 348
HYAL1 40 2 112 191 15 0 0 0 0 0 0 0 345
GALE 30 21 84 209 11 0 0 0 0 0 0 5 325
FUCA1 55 17 108 141 12 0 0 0 0 0 0 0 318
NHLRC1 27 9 184 88 16 0 0 0 0 0 0 5 316
LIAS 20 8 151 123 11 0 0 0 0 0 0 4 308
PHKA2 61 41 109 73 40 0 0 0 0 0 0 1 305
PHKG2 38 9 71 194 13 0 0 0 0 0 0 0 300
SI 15 18 180 61 22 0 0 0 0 0 0 0 286
ENO3 6 1 141 125 22 0 0 0 0 0 0 1 279
PDHB 24 15 58 182 21 0 0 0 0 0 0 0 279
FBP1 43 16 63 151 22 0 0 0 0 0 0 1 274
HADH 16 21 90 166 21 0 0 0 7 13 0 0 262
PGAP1 21 12 109 99 26 0 0 0 0 0 0 1 261
PYGL 38 20 111 74 29 0 0 0 0 0 0 18 251
IDUA, SLC26A1 39 17 67 117 12 0 0 0 0 0 2 4 234
SLC2A2 36 11 103 69 28 0 0 0 0 0 0 0 234
KCNJ11 29 27 182 24 29 0 0 0 1 0 0 24 230
HOGA1 42 67 125 19 14 0 0 0 0 0 0 2 229
ALDOA, LOC112694756 4 4 109 105 11 0 0 0 0 0 0 1 220
GRHPR 50 92 64 31 23 0 0 0 0 0 0 4 213
ARSB, LOC129994126 40 41 54 100 5 0 0 0 0 0 0 0 212
EXOSC3 28 11 64 104 10 0 0 0 0 0 0 2 203
GYG1 22 5 94 73 13 0 0 0 0 0 0 0 202
LOC130060903, NAGLU 29 18 72 88 0 0 0 0 0 0 0 0 197
NAGA 18 6 50 89 16 0 0 0 0 0 0 0 173
DLAT 10 4 63 82 15 0 0 0 0 0 0 0 169
GYS2 17 12 83 45 34 0 0 0 0 0 0 0 166
LDHA 5 2 86 54 13 0 0 0 0 0 0 0 150
CA5A 11 5 66 59 13 0 0 0 0 0 0 4 148
LOC126863160, NAGA 10 5 29 104 4 0 0 0 0 0 0 1 143
GLUD1 11 5 72 42 14 0 0 0 0 0 0 0 133
LCT 4 10 81 11 17 0 0 0 0 0 0 1 117
PRSS12 1 2 90 11 10 0 0 0 0 0 0 2 113
KLF11 2 0 67 21 24 0 0 0 0 0 0 0 111
HGSNAT, LOC130000316 6 4 28 69 3 0 0 0 0 0 0 0 105
PKLR 19 17 64 4 4 0 0 0 0 0 0 0 104
BLK 4 0 47 25 30 0 0 0 0 0 0 0 101
TRAPPC9 19 11 55 3 11 0 0 0 0 0 0 2 98
NSUN2 9 10 54 8 18 0 0 0 0 0 0 1 97
PCK1 6 2 65 11 18 0 0 0 0 0 0 0 96
PDHX 10 9 43 7 26 0 0 0 0 0 0 2 94
DBNL, PGAM2 7 1 56 35 4 0 0 0 0 0 0 1 93
GALNS, LOC130059762, TRAPPC2L 17 7 31 38 2 0 0 0 0 0 0 1 88
NEUROD1 2 0 61 13 10 0 0 0 0 0 0 0 84
SLC5A2 9 8 57 2 4 0 0 0 0 0 0 0 77
PAX4 2 0 39 26 8 0 0 0 0 0 0 0 73
GPI 17 8 37 8 6 0 0 0 0 0 0 0 72
NEU1 27 11 30 3 5 0 0 0 0 0 0 0 71
GALNS, LOC126862447 11 9 22 30 6 0 0 1 0 0 0 0 68
TPI1 8 2 40 10 12 0 0 0 0 0 0 0 67
GALT, LOC130001683 18 20 16 22 0 0 0 0 0 0 0 0 65
LOC129936949, PDHB 0 2 12 52 1 0 0 0 0 0 0 0 65
PGK1 15 3 34 12 2 0 0 0 0 0 0 0 63
LOC129999660, PRKAG2 0 0 27 32 3 0 0 0 0 0 0 0 61
TUSC3 7 4 23 21 8 0 0 0 0 0 0 0 61
SLC16A1 1 1 44 10 4 0 0 0 0 0 0 0 60
PDX1 2 9 23 25 7 0 0 0 0 0 0 2 58
CC2D1A 4 4 41 2 3 0 0 0 0 0 0 1 54
LOC129992886, MANBA 2 1 19 34 0 0 0 0 0 0 0 0 54
INS, INS-IGF2 11 6 24 6 2 0 0 0 8 2 0 24 52
LOC130063650, MAN2B1 5 3 26 23 0 0 0 0 0 0 0 0 52
FUCA1, LOC126805661 6 1 21 26 2 0 0 0 0 0 0 0 51
LOC129391064, MAN2B1 7 9 14 27 1 0 0 0 0 0 0 0 51
HNF1B, LOC126862549 14 13 13 9 6 0 0 0 2 2 0 0 50
LOC129996727, SLC17A5 5 4 15 26 3 0 0 0 0 0 0 0 49
GLB1, LOC129936434, TMPPE 5 1 12 27 3 0 0 0 0 0 0 0 47
INSR 2 2 16 23 2 0 0 0 0 3 0 0 46
KDM5B 9 12 18 1 5 0 0 0 0 0 0 2 44
C12orf43, HNF1A 3 1 24 7 25 0 1 0 0 1 0 1 43
CGREF1, KHK 0 0 27 4 12 0 0 0 0 0 0 0 43
LOC112449713, PHKB 1 1 16 26 1 0 0 0 0 0 0 0 43
CEL 3 5 21 13 5 0 0 0 0 0 0 0 42
FMN2 4 3 20 5 8 0 0 0 0 0 0 1 41
TALDO1 3 1 30 2 3 0 0 0 0 0 0 1 40
ADK 2 3 22 5 8 0 0 0 0 0 0 0 39
LINS1 4 14 20 1 0 0 0 0 0 0 0 0 38
IDS, LOC130068781 7 0 3 25 4 0 0 0 0 0 0 0 37
KHK 2 0 26 2 7 0 0 0 0 0 0 0 37
RPIA 6 2 23 2 3 0 0 0 0 0 0 0 36
G6PD, IKBKG 3 6 16 9 3 0 0 0 0 0 0 0 34
LDHB 0 0 24 2 4 4 0 0 0 0 0 0 34
LOC130063648, MAN2B1 2 4 12 17 0 0 0 0 0 0 0 0 34
DLAT, PIH1D2 1 1 15 13 3 0 0 0 0 0 0 0 32
GUSB, LOC126860055 4 3 5 21 2 0 0 0 0 0 0 0 32
MBOAT7 8 9 19 0 0 0 0 0 0 0 0 0 32
MAP3K15, PDHA1 0 0 12 1 18 0 0 0 0 0 0 0 31
HK1 8 7 7 1 7 0 0 0 0 0 0 1 30
LIAS, LOC112939935 0 0 22 5 0 0 0 0 0 0 0 0 27
LOC130058947, PHKB 0 0 11 16 1 0 0 0 0 0 0 0 27
MED23 9 5 10 0 0 0 0 0 0 0 0 4 27
RUSC2 2 1 21 1 2 0 0 0 0 0 0 0 27
RUSF1, SLC5A2 1 0 22 3 2 0 0 0 0 0 0 0 27
NDST1 4 2 16 1 5 0 0 0 0 0 0 0 26
TRMT1 8 9 8 0 1 0 0 0 0 0 0 0 26
ELP2 6 6 12 0 0 0 0 0 0 0 0 3 22
LOC132089454, SLC17A5 3 7 2 10 1 0 0 0 0 0 0 0 21
ABCC8, LOC110121471 2 1 10 8 4 0 0 0 0 0 0 0 20
BLK, LOC126860302 0 0 13 4 3 0 0 0 0 0 0 0 20
LOC130061900, SGSH 4 3 6 9 0 0 0 0 0 0 0 0 19
METTL23 6 4 9 0 0 0 0 0 0 0 0 0 19
NGLY1 7 6 7 1 0 0 0 0 0 0 0 0 19
WASHC4 6 5 9 0 1 0 0 0 0 0 0 0 19
LOC130005549, PDHX 3 2 6 2 6 0 0 0 0 0 0 0 18
DBNL, LOC129998343, PGAM2 3 2 11 4 1 0 0 0 0 0 0 0 17
EPM2A 7 3 6 0 1 0 0 0 0 0 0 2 17
GLYCTK 3 3 14 0 0 0 0 0 0 0 0 3 17
ALKBH8 3 3 5 1 5 0 0 0 0 0 0 0 16
LOC129931218, SLC16A1 2 0 13 1 0 0 0 0 0 0 0 0 16
LOC130003078, MAN1B1 0 0 6 9 1 0 0 0 0 0 0 0 16
APRT, GALNS 0 0 1 8 9 0 0 0 0 0 0 0 15
C1orf105, PIGC 4 4 8 0 2 0 0 0 0 0 0 0 15
DBNL, LOC129998342, PGAM2 1 0 6 7 3 0 0 0 0 0 0 0 15
EPM2A, EPM2A-DT, LOC129997381 3 2 6 2 1 0 0 0 0 0 0 2 15
EXOSC3, LOC130001814 2 0 3 9 1 0 0 0 0 0 0 0 15
FTL, GYS1 0 0 8 5 6 0 0 0 0 0 0 0 15
GLUD1, SHLD2 0 0 9 6 0 0 0 0 0 0 0 0 15
GYS1, LOC119369037 1 1 6 7 0 0 0 0 0 0 0 0 15
LOC126861110, TALDO1 5 1 9 0 0 0 0 0 0 0 0 0 15
LOC130003079, MAN1B1 2 2 6 5 2 0 0 0 0 0 0 0 15
ST3GAL3 6 1 6 0 3 0 0 0 0 0 0 0 15
ASCC3 12 0 2 0 0 0 0 0 0 0 0 0 14
GYS2, LOC126861480 2 0 7 4 2 0 0 0 0 0 0 0 14
HADH, LOC129992931 1 0 8 8 5 0 0 0 0 2 0 0 14
LOC130006142, PC 0 1 2 11 0 0 0 0 0 0 0 0 14
TNIK 1 0 5 1 7 0 0 0 0 0 0 0 14
APC2 3 0 7 0 2 0 0 0 0 0 0 1 13
CTSA, LOC130065974 2 0 6 7 0 0 0 0 0 0 0 0 13
FUCA1, LOC129929685 0 0 6 6 2 0 0 0 0 0 0 0 13
GLUD1, LOC130004255, SHLD2 0 0 6 7 1 0 0 0 0 0 0 0 13
GRIK2 2 0 10 1 0 0 0 0 0 0 0 0 13
ZBTB11 8 0 4 0 1 0 0 0 0 0 0 0 13
AGA, AGA-DT 2 6 6 0 0 0 0 0 0 0 0 0 12
CCDC40, GAA 0 0 1 4 7 0 0 0 0 0 0 0 12
LCT, LOC126806353 0 0 7 2 3 0 0 0 0 0 0 0 12
LINGO1 3 0 5 0 4 0 0 0 0 0 0 0 12
TKT 3 1 3 0 6 0 0 0 0 0 0 1 12
APIP, LOC130005547, PDHX 0 0 4 2 5 0 0 0 0 0 0 0 11
CRBN 3 1 4 0 3 0 0 0 0 0 0 0 11
DBNL, LOC129998341, PGAM2 0 0 8 4 0 0 0 0 0 0 0 0 11
GALK1, ITGB4 1 0 4 2 5 0 0 0 0 0 0 0 11
NRL, PCK2 2 0 7 1 1 0 0 0 0 0 0 1 11
EXOSC8 2 2 5 1 1 0 0 0 0 0 0 1 10
HCN3, PKLR 0 0 9 0 1 0 0 0 0 0 0 0 10
PDP1 3 0 6 0 1 0 0 0 0 0 0 0 10
ZC3H14 2 0 5 2 2 0 0 0 0 0 0 0 10
APPL1 2 0 1 3 4 0 0 0 0 0 0 0 9
CRADD 4 1 5 0 0 0 0 0 0 0 0 1 9
DLD, LOC129999127 0 0 2 7 0 0 0 0 0 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 0 0 0 0 9
METTL5 4 3 3 0 0 0 0 0 0 0 0 0 9
PIDD1 8 0 1 0 0 0 0 0 0 0 0 0 9
C12orf4 4 6 0 0 0 0 0 0 0 0 0 0 8
CAMK2A 1 1 1 0 5 0 0 0 0 0 0 0 8
DCPS 2 1 4 0 1 0 0 0 0 0 0 0 8
GYS1, LOC130064896 0 0 5 1 2 0 0 0 0 0 0 0 8
LMAN2L 1 1 6 0 0 0 0 0 0 0 0 0 8
RSRC1 5 1 2 0 0 0 0 0 0 0 0 0 8
SLC16A12 1 0 6 1 0 0 0 0 0 0 0 0 8
ABCC8, KCNJ11 0 0 5 7 4 0 0 0 0 0 0 1 7
BLK, LOC126860303 0 0 0 3 5 0 0 0 0 0 0 0 7
CTSA, NEURL2 0 0 5 2 0 0 0 0 0 0 0 0 7
GALM 5 0 1 0 1 0 0 0 0 0 0 0 7
GYG1, LOC129937737 0 3 2 2 0 0 0 0 0 0 0 0 7
HLCS, LOC130066639 0 0 1 0 6 0 0 0 0 0 0 0 7
HNMT 2 2 4 0 0 0 0 0 0 0 0 0 7
INS, INS-IGF2, TH 0 0 1 5 5 0 0 0 0 0 0 0 7
DCPS, GSEC 1 2 3 1 0 0 0 0 0 0 0 0 6
FBXO31 2 0 4 0 0 0 0 0 0 0 0 1 6
GNPTAB 6 0 0 0 0 0 0 0 0 0 0 0 6
MIR6505, PFKM 0 1 1 5 0 0 0 0 0 0 0 0 6
SLC2A1, SLC2A1-DT 2 0 3 0 1 0 0 0 0 0 0 0 6
EIF3F 1 2 1 0 2 0 0 0 0 0 0 0 5
GLUD1, LOC130004254 0 0 1 4 1 0 0 0 0 0 0 0 5
GYS1, LOC130064895 0 0 3 2 0 0 0 0 0 0 0 0 5
IMPA1 1 1 3 0 0 0 0 0 0 0 0 0 5
LOC129934277, RPIA 0 0 4 0 1 0 0 0 0 0 0 0 5
LOC130058864, PHKG2 0 0 4 0 1 0 0 0 0 0 0 0 5
MCM6 0 0 5 0 0 0 0 0 0 0 0 0 5
TAF13 2 1 1 0 1 0 0 0 0 0 0 0 5
ADK, LOC102723439 1 1 0 1 2 0 0 0 0 0 0 0 4
ARSK 3 0 1 0 0 0 0 0 0 0 0 0 4
CASP2 4 0 0 0 0 0 0 0 0 0 0 0 4
CCDC40, GAA, LOC130061897 0 0 1 3 0 0 0 0 0 0 0 0 4
G6PD, IKBKG, LOC107181288 1 0 2 1 1 0 0 0 0 0 0 0 4
GALE, LOC129929682 0 0 3 1 0 0 0 0 0 0 0 0 4
HOGA1, LOC130004476 0 0 3 0 1 0 0 0 0 0 0 0 4
INS 1 1 2 1 0 0 0 0 0 0 0 3 4
INS, TH 0 0 0 4 0 0 0 0 0 0 0 0 4
LOC130067582, NAGA 0 0 3 1 0 0 0 0 0 0 0 0 4
PTF1A 1 0 1 1 1 0 0 0 0 0 0 0 4
TECR 1 0 2 1 0 0 0 0 0 0 0 0 4
WDR11 4 0 0 0 0 0 0 0 0 0 0 0 4
​intergenic 3 0 0 0 0 0 0 0 0 0 0 0 3
CASK 1 1 0 1 0 0 0 0 0 0 0 0 3
DCPS, TIRAP 1 0 1 0 1 0 0 0 0 0 0 0 3
EIF3F, LOC126861132 1 0 2 0 0 0 0 0 0 0 0 0 3
FTL, GYS1, LOC130064893 0 0 1 2 0 0 0 0 0 0 0 0 3
HGSNAT, POMK 1 0 2 0 0 0 0 0 0 0 0 0 3
KCNJ2, LOC130061539 0 0 2 0 1 0 0 0 0 0 0 0 3
LDHD 3 2 0 0 0 0 0 0 0 0 0 0 3
LOC130006147, PC 0 0 2 0 1 0 0 0 0 0 0 0 3
LOC130006883, SLC37A4 0 0 2 0 1 0 0 0 0 0 0 0 3
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 0 0 2 0 0 0 0 0 0 0 0 0 2
ALDOB, LOC130002261 2 0 0 0 0 0 0 0 0 0 0 0 2
ANK3 0 0 2 0 0 0 0 0 0 0 0 0 2
APRT, CDT1, GALNS, LOC126862447, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, PIEZO1 1 1 0 0 0 0 0 0 0 0 0 0 2
CEP104 2 0 0 0 0 0 0 0 0 0 0 0 2
CRBN, TRNT1 2 1 0 0 0 0 0 0 0 0 0 0 2
CTSA, PLTP 0 0 2 0 0 0 0 0 0 0 0 0 2
EDC3 1 0 1 0 0 0 0 0 0 0 0 0 2
EXOSC8, LOC130009581 0 0 2 0 0 0 0 0 0 0 0 0 2
G6PD, IKBKG, LOC108281126 0 0 0 0 2 0 0 0 0 0 0 0 2
GAA, LOC130061897 0 0 2 1 0 0 0 0 0 0 0 0 2
GALNS, LOC126862447, LOC130059761, LOC130059762, LOC132090440, TRAPPC2L 2 0 0 0 0 0 0 0 0 0 0 0 2
GALT, LOC130001682, LOC130001683 2 0 0 0 0 0 0 0 0 0 0 0 2
GLB1, LOC129936434 0 0 2 0 0 0 0 0 0 0 0 0 2
KCNJ5 0 0 0 0 0 0 0 0 0 0 0 2 2
LOC129930369, SLC2A1 0 0 1 1 0 0 0 0 0 0 0 0 2
LOC129999670, PRKAG2 0 0 2 0 0 0 0 0 0 0 0 0 2
LOC130060902, NAGLU 0 0 2 0 0 0 0 0 0 0 0 0 2
LRFN4, PC 2 0 0 0 0 0 0 0 0 0 0 0 2
MAN2B1, WDR83, WDR83OS 2 0 0 0 0 0 0 0 0 0 0 0 2
MLKL 1 0 0 1 0 0 0 0 0 0 0 0 2
NAA20 2 1 0 0 0 0 0 0 0 0 0 0 2
NAGA, WBP2NL 0 0 0 1 1 0 0 0 0 0 0 0 2
PGAM2 1 0 1 0 0 0 0 0 0 0 0 0 2
SHPK 0 0 0 1 0 1 0 0 0 0 0 0 2
SLC25A36 2 0 0 0 0 0 0 0 0 0 0 0 2
TPR 2 0 0 0 0 0 0 0 0 0 0 0 2
TREH 1 0 2 0 0 0 0 0 0 0 0 0 2
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 0 0 1 0 0 0 0 0 0 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 0 0 0 0 0 0 0 0 0 0 1
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 0 0 1 0 0 0 0 0 0 0 0 0 1
ABCC11, ABCC12, C16orf87, DNAJA2, GPT2, ITFG1, MYLK3, NETO2, ORC6, PHKB, VPS35 0 0 1 0 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, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, 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, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 0 0 0 0 1
ABHD6, ACOX2, APPL1, ARF4, ASB14, DENND6A, DNAH12, DNASE1L3, FLNB, HESX1, IL17RD, KCTD6, PDE12, PDHB, PXK, RPP14, SLMAP 0 0 1 0 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 0 0 0 1
ACTRT3, CLDN11, ECT2, EIF5A2, FNDC3B, GHSR, GPR160, LRRC31, LRRC34, LRRIQ4, MECOM, MYNN, NCEH1, PHC3, PLD1, PRKCI, RPL22L1, SAMD7, SEC62, SKIL, SLC2A2, SLC7A14, SPATA16, TERC, TMEM212, TNFSF10, TNIK 0 0 1 0 0 0 0 0 0 0 0 0 1
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 0 0 1 0 0 0 0 0 0 0 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 0 0 0 0 0 0 1
ADGRV1 0 0 1 0 0 0 0 0 0 0 0 0 1
AFF2, CD99L2, CXorf51A, CXorf51B, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, FMR1, FMR1NB, FRAXA, FRAXE, HMGB3, HSFX1, HSFX2, HSFX3, HSFX4, IDS, LINC00850, LINC02927, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC109396974, LOC121627983, LOC122319696, LOC125467790, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC129929048, LOC129929049, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, LOC130068788, LOC130068789, LOC130068790, LOC130068791, LOC130068792, LOC130068793, LOC130068794, LOC130068795, LOC130068796, LOC130068797, LOC130068798, LOC130068799, LOC130068800, LOC130068801, LOC130068802, LOC130068803, LOC130068804, LOC130068805, LOC130068806, MAGEA11, MAGEA8, MAGEA9, MAGEA9B, MAMLD1, MIR2114, MIR4330, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, MTM1, MTMR1, SLITRK2, SPANXN1, TMEM185A 1 0 0 0 0 0 0 0 0 0 0 0 1
AFF2, CXorf51A, CXorf51B, EOLA1, EOLA1-DT, FMR1, FMR1NB, FRAXA, FRAXE, HSFX2, HSFX3, IDS, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC109396974, LOC121627983, LOC122319696, LOC125467790, LOC126863337, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC129929048, LOC129929049, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, MAGEA11, MAGEA9B, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, SLITRK2, SLITRK4, SPANXN1, SPANXN2, SPANXN3, TMEM185A, UBE2NL 0 0 1 0 0 0 0 0 0 0 0 0 1
AGTR1, ANKUB1, CLRN1, COMMD2, CP, CPA3, CPB1, EIF2A, ERICH6, GPR171, GPR87, GYG1, HLTF, HPS3, IGSF10, MED12L, MINDY4B, P2RY12, P2RY13, P2RY14, PFN2, RNF13, SELENOT, SERP1, SIAH2, TM4SF1, TM4SF18, TM4SF4, TSC22D2, WWTR1 1 0 0 0 0 0 0 0 0 0 0 0 1
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LINC02991, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC121009634, LOC121009635, LOC122889014, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC129935948, LOC129935949, LOC129935950, LOC129935951, LOC129935952, LOC129935953, LOC129935954, LOC129935955, LOC129935956, LOC129935957, LOC129935958, LOC129935959, LOC129935960, LOC129935961, LOC129935962, LOC129935963, LOC129935964, LOC129935965, LOC129935966, LOC129935967, LOC129935968, LOC129935969, LOC129935970, LOC129935971, LOC129935972, LOC129935973, LOC129935974, LOC129935975, LOC129935976, LOC129935977, LOC129935978, LOC129935979, LOC129935980, LOC129935981, LOC129935982, LOC129935983, LOC129935984, LOC129935985, LOC129935986, LOC129935987, LOC129935988, LOC129935989, LOC150935, LOC285191, MGC16025, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 0 0 0 0 0 0 0 0 0 0 1
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 0 0 0 0 0 0 1
ALDOA, LOC112694756, LOC130058806, LOC130058807 0 0 1 0 0 0 0 0 0 0 0 0 1
ALDOB, BAAT, GRIN3A, MRPL50, PGAP4, PPP3R2, RNF20, ZNF189 1 0 0 0 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 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 0 0 0 0 0 0 1
ANO5 1 0 0 0 0 0 0 0 0 0 0 0 1
AP3B1, ARSB, LHFPL2, SCAMP1 1 0 0 0 0 0 0 0 0 0 0 0 1
AP5B1, ARL2, ATG2A, B4GAT1, BANF1, BATF2, BBS1, BRMS1, C11orf68, CAPN1, CATSPER1, CCDC85B, CD248, CDC42BPG, CDC42EP2, CDCA5, CFL1, CNIH2, CST6, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EHD1, EIF1AD, FAM89B, FAU, FIBP, FOSL1, FRMD8, GAL3ST3, GPHA2, KAT5, KCNK7, KLC2, LTBP3, MAJIN, MALAT1, MAP3K11, MAP4K2, MEN1, MIR192, MIR194-2, MRPL11, MRPL49, MUS81, NAALADL1, NEAT1, NPAS4, OVOL1, PACS1, PCNX3, PELI3, POLA2, PPP2R5B, PYGM, RAB1B, RELA, RIN1, RNASEH2C, SAC3D1, SART1, SCYL1, SF1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX15, SNX32, SPDYC, SYVN1, TIGD3, TM7SF2, TMEM151A, TSGA10IP, VPS51, YIF1A, ZFPL1, ZNHIT2, ZNRD2 1 0 0 0 0 0 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 0 0 0 1
APC2, LOC130062956 0 0 1 0 0 0 0 0 0 0 0 0 1
APPL1, ASB14 0 0 0 1 0 0 0 0 0 0 0 0 1
APRT, CDT1, GALNS, PIEZO1 0 0 1 0 0 0 0 0 0 0 0 0 1
APRT, GALNS, LOC126862447, LOC130059760 1 0 0 0 0 0 0 0 0 0 0 0 1
APRT, GALNS, LOC130059760 0 0 0 1 0 0 0 0 0 0 0 0 1
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 0 0 0 0 0 0 0 1
ARG1, MED23 0 0 0 0 1 0 0 0 0 0 0 0 1
ARSB, LOC123497917, LOC129994124, LOC129994125 1 0 0 0 0 0 0 0 0 0 0 0 1
ARSB, LOC129994124, LOC129994125 1 0 0 0 0 0 0 0 0 0 0 0 1
ASL, GUSB 1 0 0 0 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 0 0 0 1
BANK1, BDH2, CENPE, CISD2, MANBA, NFKB1, PPP3CA, SLC39A8, SLC9B1, SLC9B2, TACR3, UBE2D3 1 0 0 0 0 0 0 0 0 0 0 0 1
BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469 1 0 0 0 0 0 0 0 0 0 0 0 1
BLK, FAM167A 1 0 0 0 0 0 0 0 0 0 0 0 1
BPIFC, C22orf42, FBXO7, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4 0 0 1 0 0 0 0 0 0 0 0 0 1
BTD, COLQ, HACL1 1 0 0 0 0 0 0 0 0 0 0 0 1
C8orf17, TRAPPC9 1 0 0 0 0 0 0 0 0 0 0 0 1
CARD14, EIF4A3, RNF213, SGSH, SLC26A11 0 0 1 0 0 0 0 0 0 0 0 0 1
CARD14, SGSH 1 1 0 0 0 0 0 0 0 0 0 1 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 0 0 0 0 0 0 1
CC2D1A, LOC129391070 1 0 0 0 0 0 0 0 0 0 0 0 1
CDH23 0 0 1 0 0 0 0 0 0 0 0 0 1
CEP104, LOC126805586 1 0 0 0 0 0 0 0 0 0 0 0 1
CGAS, DDX43, DPPA5, EEF1A1, KCNQ5, KHDC1, KHDC1L, KHDC3L, MTO1, OOEP, RIMS1, SLC17A5 1 0 0 0 0 0 0 0 0 0 0 0 1
CHMP1A 0 1 0 0 0 0 0 0 0 0 0 0 1
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 0 0 0 0 0 0 0 0 1
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 0 0 1 0 0 0 0 0 0 0 0 0 1
CTSA, NEURL2, SPATA25 0 0 0 0 1 0 0 0 0 0 0 0 1
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 0 0 0 0 0 0 1
DCX 0 1 0 0 0 0 0 0 0 0 0 0 1
DCXR 0 0 0 0 0 1 0 0 0 0 0 0 1
DCXR, LOC130061998 0 0 0 0 0 1 0 0 0 0 0 0 1
DIAPH1 0 0 0 1 0 0 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 0 0 0 0 1
DLD, SLC26A3 1 0 0 0 0 0 0 0 0 0 0 0 1
DPAGT1, H2AX, HMBS, HYOU1, SLC37A4, VPS11 0 0 1 0 0 0 0 0 0 0 0 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 0 0 0 0 0 0 1
EEF1A1, MTO1, SLC17A5 0 0 1 0 0 0 0 0 0 0 0 0 1
EEF1D 1 0 0 0 0 0 0 0 0 0 0 0 1
EIF4A3, GAA 0 0 1 0 0 0 0 0 0 0 0 0 1
FERRY3 0 0 1 0 0 0 0 0 0 0 0 0 1
FMN2, LOC126806069 0 0 1 0 0 0 0 0 0 0 0 0 1
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 0 0 0 0 0 0 0 1
FTL, GYS1, LOC119369037 0 0 1 0 1 0 0 0 0 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC129929052 0 1 0 0 0 0 0 0 0 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC130068881 0 0 1 0 0 0 0 0 0 0 0 0 1
GALE, HMGCL 0 0 0 0 1 0 0 0 0 0 0 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 0 0 0 0 0 0 1
GALK1, LOC130061683 0 0 1 0 0 0 0 0 0 0 0 0 1
GALNT11, GALNTL5, KMT2C, PRKAG2, XRCC2 0 0 1 0 0 0 0 0 0 0 0 0 1
GALT, IL11RA 1 0 0 0 0 0 0 0 0 0 0 0 1
GALT, IL11RA, LOC121331325, LOC130001682, LOC130001683, LOC130001684 1 0 0 0 0 0 0 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 0 0 0 0 1
GBE1, LOC123002309, LOC123002310, LOC129937076, LOC129937077, LOC129937078 1 0 0 0 0 0 0 0 0 0 0 0 1
GBE1, LOC123002309, LOC123002310, LOC129937077, LOC129937078 1 0 0 0 0 0 0 0 0 0 0 0 1
GBE1, LOC129937076 0 1 0 0 0 0 0 0 0 0 0 0 1
GRIA1 1 0 0 0 0 0 0 0 0 0 0 0 1
GTF2H1, HPS5, LDHA 0 0 1 0 0 0 0 0 0 0 0 0 1
GYS1, LOC130064893 0 0 1 0 0 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 0 0 0 1
HGSNAT, POTEA 0 0 1 0 0 0 0 0 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 0 0 0 0 1
IDS, LOC106050102, LOC130068781 1 0 0 0 0 0 0 0 0 0 0 0 1
KDM5B, LOC129932249 0 0 1 0 0 0 0 0 0 0 0 0 1
KHK, LOC129933358 0 0 0 0 1 0 0 0 0 0 0 0 1
LHFPL5 1 0 0 0 0 0 0 0 0 0 0 0 1
LIAS, LOC112939935, LOC129992453 0 0 1 0 0 0 0 0 0 0 0 0 1
LIAS, RPL9 0 0 1 0 0 0 0 0 0 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 0 0 0 0 0 0 1
LMNA 0 0 0 1 0 0 0 0 0 0 0 0 1
LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC129999662, LOC129999663, LOC129999664, PRKAG2 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC110121276, PRKAG2 0 0 0 0 1 0 0 0 0 0 0 0 1
LOC121725020, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, SLC2A1, SLC2A1-DT 1 0 0 0 0 0 0 0 0 0 0 0 1
LOC126806684, TKT 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC126862464, SHPK 0 0 0 0 0 1 0 0 0 0 0 0 1
LOC129936948, PDHB 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC129996727, LOC132089448, LOC132089449, LOC132089450, LOC132089451, LOC132089452, LOC132089453, LOC132089454, LOC132089455, LOC132089456, LOC132089457, LOC132089458, SLC17A5 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC130000734, PDP1 0 0 0 0 1 0 0 0 0 0 0 0 1
LOC130003078, LOC130003079, MAN1B1 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC130003080, MAN1B1 1 0 0 0 0 0 0 0 0 0 0 0 1
LOC130005548, PDHX 0 0 0 1 0 0 0 0 0 0 0 0 1
LOC130008643, WASHC4 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC130055618, PYGL 0 0 0 0 1 0 0 0 0 0 0 0 1
LOC130056407, VRK1 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC130058907, SLC5A2 1 1 0 0 0 0 0 0 0 0 0 0 1
LOC130063648, LOC130063649, MAN2B1 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC130065264, RBCK1 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC132089454, LOC132089455, LOC132089456, LOC132089457, SLC17A5 1 0 0 0 0 0 0 0 0 0 0 0 1
MAN2B1, ZNF564 1 0 0 0 0 0 0 0 0 0 0 0 1
MBOAT7, TSEN34 0 0 0 1 0 0 0 0 0 0 0 0 1
MMAB 0 0 0 0 1 0 0 0 0 0 0 0 1
MOCOS 0 0 1 0 0 0 0 0 0 0 0 0 1
MOK 0 0 1 0 0 0 0 0 0 0 0 0 1
MROH6 0 0 1 0 0 0 0 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 0 0 0 0 1
NEU1, SLC44A4 1 0 0 0 0 0 0 0 0 0 0 0 1
NHLRC1, TPMT 1 0 0 0 0 0 0 0 0 0 0 0 1
PARK7 0 0 0 1 0 0 0 0 0 0 0 0 1
PAX2 0 0 1 0 0 0 0 0 0 0 0 0 1
PIK3CA 0 1 0 0 0 0 0 0 0 0 0 0 1
PITX1 0 1 0 0 0 0 0 0 0 0 0 0 1
RBCK1, TBC1D20 0 0 1 0 0 0 0 0 0 0 0 0 1
RNF213, SGSH, SLC26A11 0 0 1 0 0 0 0 0 0 0 0 0 1
RNF31 0 0 1 0 0 0 0 0 0 0 0 0 1
SCNN1B 0 0 1 0 0 0 0 0 0 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 0 0 0 0 0 0 1 1
SYNGAP1 0 1 0 0 0 0 0 0 0 0 0 0 1
TAFAZZIN 0 1 0 0 0 0 0 0 0 0 0 0 1
TMEM276, TMEM276-ZFTRAF1, ZFTRAF1 0 0 1 0 0 0 0 0 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 0 0 0 0 0 1
YARS1 0 0 1 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 336
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found likely risk allele uncertain risk allele other not provided total
Invitae 4016 1180 9097 18555 1501 0 0 0 0 0 8 0 34357
Illumina Laboratory Services, Illumina 77 28 4248 685 1249 0 0 0 0 0 0 0 6146
Natera, Inc. 413 96 1434 437 334 0 0 0 0 0 0 0 2714
Counsyl 151 966 760 211 5 0 0 0 0 0 1 0 2094
Baylor Genetics 727 860 427 0 0 0 0 0 0 0 0 0 2014
Fulgent Genetics, Fulgent Genetics 306 217 949 393 49 0 0 0 0 0 0 0 1914
Genome-Nilou Lab 247 167 642 242 512 0 0 0 0 0 0 0 1810
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 120 735 174 343 0 1 0 131 140 0 0 1700
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 675 425 27 26 11 0 0 0 0 0 0 7 1171
OMIM 1044 0 2 0 4 8 0 0 0 0 0 0 1058
Revvity Omics, Revvity 198 159 523 2 0 0 0 0 0 0 0 0 882
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 117 205 351 2 9 0 0 0 0 0 0 0 684
Myriad Genetics, Inc. 55 465 27 0 0 0 0 0 0 0 0 0 547
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 161 128 163 50 19 0 0 0 0 0 0 0 521
Clinical Biochemistry Laboratory, Health Services Laboratory 266 71 88 5 3 0 0 0 0 0 0 0 433
Ambry Genetics 65 44 77 128 32 0 0 0 0 0 0 0 346
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 35 16 64 75 129 0 0 0 0 0 0 0 319
Mendelics 159 63 30 21 33 0 0 0 0 0 0 0 306
GeneReviews 28 0 0 0 4 0 0 0 0 0 0 259 291
Dunham Lab, University of Washington 96 148 17 3 20 0 0 0 0 0 0 0 284
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 130 81 45 5 13 0 0 0 0 0 0 0 274
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 22 4 0 0 0 0 0 0 0 0 218
3billion 80 45 54 1 0 0 0 0 0 0 0 0 180
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 45 55 61 0 0 0 0 0 0 0 0 0 161
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 75 29 37 3 0 0 0 0 0 0 0 0 144
New York Genome Center 14 6 120 0 0 0 0 0 0 0 0 0 140
Genomic Research Center, Shahid Beheshti University of Medical Sciences 41 23 54 4 1 0 0 0 0 0 0 0 123
Genetic Services Laboratory, University of Chicago 73 40 7 1 0 0 0 0 0 0 0 0 121
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 59 46 12 0 0 0 0 0 0 0 0 0 117
Institute of Human Genetics, University of Leipzig Medical Center 42 30 30 3 1 0 0 0 0 0 0 0 106
Geisinger Clinic, Geisinger Health System 73 24 0 0 0 0 0 0 0 0 0 0 97
MGZ Medical Genetics Center 38 28 25 0 0 0 0 0 0 0 0 0 91
Pars Genome Lab 1 1 2 16 66 0 0 0 0 0 0 0 86
Centre for Mendelian Genomics, University Medical Centre Ljubljana 24 18 32 0 4 0 0 0 0 0 0 0 78
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 32 21 24 1 0 0 0 0 0 0 0 0 78
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 40 28 0 0 0 0 0 0 0 0 0 0 68
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 16 51 0 0 0 0 0 0 0 0 0 0 67
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 10 1 1 9 44 0 0 0 0 0 0 0 65
Centogene AG - the Rare Disease Company 37 14 13 0 0 0 0 0 0 0 0 0 64
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 44 14 3 2 0 0 0 0 0 0 0 0 63
Genetics and Molecular Pathology, SA Pathology 23 21 17 1 0 0 0 0 0 0 0 0 62
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 21 27 13 0 0 0 0 0 0 0 0 0 61
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 30 25 4 0 0 0 0 0 0 0 0 0 59
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 40 16 2 0 0 0 0 0 0 0 0 0 58
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 41 15 0 0 0 0 0 0 0 0 0 0 56
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 26 21 7 0 0 0 0 0 0 0 0 0 54
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 18 11 18 0 0 0 0 0 0 0 0 0 47
Centre for Human Genetics 31 8 4 0 1 0 0 0 0 0 0 0 44
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 0 44 44
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 41 0 0 0 0 0 0 0 0 1 43
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 38 0 0 0 0 0 0 0 0 0 0 38
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 11 13 14 0 0 0 0 0 0 0 0 0 38
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 0 0 0 0 0 36
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 20 15 0 0 0 0 0 0 0 0 0 0 35
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 24 9 2 0 0 0 0 0 0 0 0 0 35
Lifecell International Pvt. Ltd 18 13 1 0 1 0 0 0 0 0 0 0 33
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 17 12 3 0 0 0 0 0 0 0 0 0 32
IIFP, CONICET-UNLP 31 0 0 0 1 0 0 0 0 0 0 0 32
Knight Diagnostic Laboratories, Oregon Health and Sciences University 15 8 7 0 0 0 0 0 0 0 0 0 30
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 18 9 3 0 0 0 0 0 0 0 0 0 30
DASA 27 3 0 0 0 0 0 0 0 0 0 0 30
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 9 8 12 0 0 0 0 0 0 0 0 0 29
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 9 1 1 5 12 0 0 0 0 0 0 0 28
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 21 2 0 0 0 0 0 0 0 0 26
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 15 0 1 0 0 0 0 0 0 0 0 24
Molecular Genetics, Madras Diabetes Research Foundation 6 9 8 1 0 0 0 0 0 0 0 0 24
Pediatrics, All India Institute of Medical Sciences, New Delhi 0 11 0 0 0 13 0 0 0 0 0 0 24
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 6 10 1 0 0 0 0 0 0 0 0 23
SIB Swiss Institute of Bioinformatics 2 18 1 0 2 0 0 0 0 0 0 0 23
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 16 0 0 0 0 0 0 0 0 0 0 21
Reproductive Health Research and Development, BGI Genomics 12 3 3 0 3 0 0 0 0 0 0 0 21
Thalassemia Center, San Luigi University Hospital 16 4 1 0 0 0 0 0 0 0 0 0 21
Mayo Clinic Laboratories, Mayo Clinic 3 0 17 0 0 0 0 0 0 0 0 0 20
Division of Human Genetics, Children's Hospital of Philadelphia 14 6 0 0 0 0 0 0 0 0 0 0 20
National Newborn Screening Laboratory, Hospital Nacional de Niños 3 17 0 0 0 0 0 0 0 0 0 0 20
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 10 4 6 0 0 0 0 0 0 0 0 0 20
Genomics England Pilot Project, Genomics England 8 12 0 0 0 0 0 0 0 0 0 0 20
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 0 0 0 19 19
Johns Hopkins Genomics, Johns Hopkins University 9 7 2 1 0 0 0 0 0 0 0 0 19
Suma Genomics 10 4 5 0 0 0 0 0 0 0 0 0 19
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 5 2 0 0 0 0 0 0 0 0 0 18
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 11 4 2 1 0 0 0 0 0 0 0 0 18
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 2 10 0 0 0 0 0 0 0 0 0 18
Molecular Genetics, Royal Melbourne Hospital 7 4 6 1 0 0 0 0 0 0 0 0 18
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 11 2 3 0 0 0 0 2 0 0 0 0 18
Translational Genomics Laboratory, University of Maryland School of Medicine 10 7 0 0 0 0 0 0 0 0 0 0 17
Phosphorus, Inc. 0 0 0 1 16 0 0 0 0 0 0 0 17
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 12 4 0 0 1 0 0 0 0 0 0 0 17
SingHealth Duke-NUS Institute of Precision Medicine 3 7 6 0 0 0 0 0 0 0 0 0 16
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 0 16 16
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 13 2 0 0 0 0 0 0 0 0 0 0 15
Undiagnosed Diseases Network, NIH 11 0 4 0 0 0 0 0 0 0 0 0 15
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 7 6 0 0 0 0 0 0 0 0 0 15
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 0 15 15
Athena Diagnostics Inc 0 0 0 0 14 0 0 0 0 0 0 0 14
Molecular Diagnostics Laboratory, Seoul National University Hospital 5 8 1 0 0 0 0 0 0 0 0 0 14
Breda Genetics srl 4 2 8 0 0 0 0 0 0 0 0 0 14
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 0 0 0 0 0 0 0 14
Elsea Laboratory, Baylor College of Medicine 5 0 7 1 0 0 0 0 0 0 0 0 13
Center for Molecular Medicine, Children’s Hospital of Fudan University 5 8 0 0 0 0 0 0 0 0 0 0 13
Génétique des Maladies du Développement, Hospices Civils de Lyon 7 6 0 0 0 0 0 0 0 0 0 0 13
Institute of Human Genetics, University of Goettingen 0 8 4 0 0 0 0 0 0 0 0 0 12
Center of Genomic medicine, Geneva, University Hospital of Geneva 9 3 0 0 0 0 0 0 0 0 0 0 12
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 8 0 3 0 0 0 0 0 0 0 12
ClinGen Monogenic Diabetes Variant Curation Expert Panel 5 7 0 0 0 0 0 0 0 0 0 0 12
Genomics And Bioinformatics Analysis Resource, Columbia University 5 7 0 0 0 0 0 0 0 0 0 0 12
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 1 2 0 0 0 0 0 0 0 0 0 11
Medical Molecular Genetics Department, National Research Center 11 0 0 0 0 0 0 0 0 0 0 0 11
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 8 3 0 0 0 0 0 0 0 0 0 0 11
Arcensus 4 7 0 0 0 0 0 0 0 0 0 0 11
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 7 4 0 0 0 0 0 0 0 0 0 0 11
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 6 3 1 0 0 0 0 0 0 0 0 0 10
MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 0 0 0 0 0 10
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 3 7 0 0 0 0 0 0 0 0 0 10
Ege University Pediatric Genetics, Ege University 3 0 7 0 0 0 0 0 0 0 0 0 10
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 6 4 0 0 0 0 0 0 0 0 0 0 10
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 4 1 4 0 0 0 0 0 0 0 0 0 9
Genomic Medicine Lab, University of California San Francisco 5 2 2 0 0 0 0 0 0 0 0 0 9
NxGen MDx 0 8 1 0 0 0 0 0 0 0 0 0 9
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 4 1 1 0 3 0 0 0 0 0 0 0 9
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 2 5 1 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 0 0 0 8
MVZ Dr. Eberhard & Partner Dortmund 0 1 7 0 0 0 0 0 0 0 0 0 8
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 8 0 0 0 0 0 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 2 6 0 0 0 0 0 0 0 0 0 8
Clinical Genomics Program, Stanford Medicine 3 1 4 0 0 0 0 0 0 0 0 0 8
Molecular Genetics Lab, CHRU Brest 4 4 0 0 0 0 0 0 0 0 0 0 8
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 1 4 0 0 0 0 0 0 0 0 0 8
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 3 3 0 1 0 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 2 3 0 0 0 0 0 0 0 7
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 5 2 0 0 0 0 0 0 0 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 5 0 0 0 0 0 0 0 0 0 7
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 3 2 0 0 0 0 0 0 0 0 0 7
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 7 0 0 0 0 0 0 0 0 0 0 7
Yale Center for Mendelian Genomics, Yale University 5 2 0 0 0 0 0 0 0 0 0 0 7
Molecular Therapies Laboratory, Murdoch University 7 0 0 0 0 0 0 0 0 0 0 0 7
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 1 4 0 0 0 0 0 0 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 2 0 0 0 0 0 0 0 0 0 6
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 0 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 2 2 2 0 0 0 0 0 0 0 0 0 6
Hadassah Hebrew University Medical Center 1 5 0 0 0 0 0 0 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 3 0 0 0 0 0 0 0 0 0 0 6
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 3 0 0 0 0 0 0 0 0 0 6
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 6 0 0 0 0 0 0 0 0 0 0 0 6
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 0 0 0 1 0 0 0 0 0 0 0 6
Institute of Human Genetics, University Hospital Muenster 2 2 2 0 0 0 0 0 0 0 0 0 6
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 6 0 0 0 0 0 0 0 0 0 0 0 6
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 1 3 0 0 0 0 0 0 0 0 0 6
Kids Neuroscience Centre, Sydney Children's Hospitals Network 4 2 0 0 0 0 0 0 0 0 0 0 6
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 4 2 0 0 0 0 0 0 0 0 0 0 6
Provincial Medical Genetics Program of British Columbia, University of British Columbia 3 1 2 0 0 0 0 0 0 0 0 0 6
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 3 1 2 0 0 0 0 0 0 0 0 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 5 0 0 0 0 0 0 0 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 3 0 2 0 0 0 0 0 0 0 0 5
Center of Excellence for Medical Genomics, Chulalongkorn University 2 3 0 0 0 0 0 0 0 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 3 1 1 0 0 0 0 0 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 2 1 0 0 0 0 0 0 0 0 0 5
HFI Laboratory at Boston University, Boston University 4 0 0 0 0 0 0 0 0 0 0 0 4
GeneDx 1 0 1 0 2 0 0 0 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 4 0 0 0 0 0 0 0 0 0 0 0 4
Blueprint Genetics 2 2 0 0 0 0 0 0 0 0 0 0 4
National Center for Biotechnology Information, National Institutes of Health 4 0 0 0 0 0 0 0 0 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 3 1 0 0 0 0 0 0 0 0 0 0 4
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 4 0 0 0 0 0 0 0 0 0 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 3 0 0 0 0 0 0 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 4 0 0 0 0 0 0 0 0 0 0 0 4
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 2 1 0 0 0 0 0 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 0 2 1 0 0 0 0 0 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 2 0 0 0 0 0 0 0 0 0 0 4
Sydney Genome Diagnostics, Children's Hospital Westmead 4 0 0 0 0 0 0 0 0 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 2 1 0 0 0 0 0 0 0 0 4
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 1 0 0 0 0 0 0 0 0 0 4
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 2 0 0 0 0 0 0 0 0 0 4
MyeliNeuroGene Lab, McGill University Health Center Research Institute 3 0 0 0 0 0 0 0 0 0 0 0 3
DLE - Diagnosticos Laboratoriais Especializados 3 0 0 0 0 0 0 0 0 0 0 0 3
Universitäts-Kinderspital Zürich 0 0 0 0 0 0 0 0 0 0 0 3 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 0 0 0 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 0 0 0 0 3
Medical Genetic Department, Shiraz University Of Medical Science 3 0 0 0 0 0 0 0 0 0 0 0 3
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 2 0 0 0 1 0 0 0 0 0 0 0 3
Kangwon National University Hospital 1 2 0 0 0 0 0 0 0 0 0 0 3
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 2 0 0 0 0 0 0 0 0 0 3
Bezmialem Vakif University, Medical Faculty 1 0 2 0 0 0 0 0 0 0 0 0 3
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 2 1 0 0 0 0 0 0 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 0 0 0 0 0 0 0 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2 0 0 1 0 0 0 0 0 0 0 0 3
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 2 0 0 0 0 0 0 0 0 0 0 3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 2 0 0 0 0 0 0 0 0 0 0 3
Fatma Al Jasmi Lab, United Arab Emirates University 3 0 0 0 0 0 0 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 0 0 0 0 0 0 3
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 3 0 0 0 0 0 0 0 0 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 0 0 0 0 0 0 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 2 0 0 0 0 0 0 0 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 2 0 0 0 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 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 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 0 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of Southampton 2 0 0 0 0 0 0 0 0 0 0 0 2
Sidra Medicine 1 0 0 1 0 0 0 0 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 1 0 0 0 0 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 0 2 0 0 0 0 0 0 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 0 0 0 0 0 0 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 0 0 2 0 0 0 0 0 0 0 0 0 2
Snyder Lab, Genetics Department, Stanford University 1 1 0 0 0 0 0 0 0 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 1 1 0 0 0 0 0 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 1 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 0 0 0 0 0 0 2
Clinical Genetics, University of Leipzig 1 1 0 0 0 0 0 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 0 0 0 0 0 0 2
Genesis Genoma Lab, Genesis Genoma Lab 1 1 0 0 0 0 0 0 0 0 0 0 2
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 2 0 0 0 0 0 0 0 0 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 0 0 0 0 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 1 0 0 0 0 0 0 0 0 0 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 0 0 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 0 0 0 0 0 0 2
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 2 0 0 0 0 0 0 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 1 1 0 0 0 0 0 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 1 1 0 0 0 0 0 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 1 1 0 0 0 0 0 0 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 2 0 0 0 0 0 0 0 0 0 0 2
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 1 0 0 0 0 0 0 0 0 0 0 2
Stone Lab, Washington University School of Medicine 2 0 0 0 0 0 0 0 0 0 0 0 2
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1 1 0 0 0 0 0 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 0 2 0 0 0 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 2 0 0 0 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 0 0 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 0 0 0 0 0 0 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 0 0 0 0 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 1 0 0 0 0 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1 0 0 0 0 0 0 0 0 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 0 0 0 0 0 0 1
Center for Human Genetics Laboratory, University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 0 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 0 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 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 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 0 0 0 0 0 1
Freeman-Sheldon Research Group, deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Genomics, National Research Institute of Animal Production 0 1 0 0 0 0 0 0 0 0 0 0 1
Center for Medical Genomics, Jagiellonian University Medical College 1 0 0 0 0 0 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 1 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 1 0 0 0 0 0 0 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 0 0 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 1 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 0 0 0 0 1
GENETICS INSTITUTE, National university of Colombia 1 0 0 0 0 0 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 0 0 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences, University of Leeds 1 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center., Columbia University Medical Center 1 0 0 0 0 0 0 0 0 0 0 0 1
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 1 0 0 0 0 0 0 0 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 1 0 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 0 0 0 0 0 0 1
Jacobi Internal Medicine Residency Program, Jacobi Medical Center 1 0 0 0 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Faculty of Medicine, Prince of Songkla University, Thailand 0 1 0 0 0 0 0 0 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 1 0 0 0 0 0 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 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 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 0 1 0 0 0 0 0 0 0 0 0 1
Center for Medical Genetics, GenVams Trust 1 0 0 0 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 0 0 0 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 0 0 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 0 0 0 0 0 0 1
Neurology Institute, Anhui University of Chinese Medicine 1 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 0 0 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 1 0 0 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 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 0 0 0 0 1 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 0 0 0 0 0 0 1 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 0 0 0 0 0 0 1
Center for Computational Genomics and Data Science, University of Alabama 1 0 0 0 0 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 0 0 0 1
Dr Sami Ulus Medical Genetics Department, Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases 1 0 0 0 0 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 1 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Gulhane Training and Research Hospital 0 0 1 0 0 0 0 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 0 0 0 0 0 0 1
Center for Human Genetics, University Hospitals Cleveland Medical Center 0 0 1 0 0 0 0 0 0 0 0 0 1
Ladle Lab, Johns Hopkins University 0 1 0 0 0 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 0 0 0 0 1
Neonatal Research Center, Shiraz University of Medical Science 1 0 0 0 0 0 0 0 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax 1 0 0 0 0 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 0 0 0 0 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Laboratory Medicine and Genetics, Samsung Medical Center 0 1 0 0 0 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Biochemistry and Molecular Biology, Faculty of Medicine, Al-Neelain University 1 0 0 0 0 0 0 0 0 0 0 0 1
QSNICH Molecular Lab, Queen Sirikit National Institute of Child Health 0 1 0 0 0 0 0 0 0 0 0 0 1
Genetic Medical Diagnostic Laboratory CellGenetics, GMDL CellGenetics 1 0 0 0 0 0 0 0 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 1 0 0 0 0 0 0 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Urology, Hunan Children's Hospital 0 0 1 0 0 0 0 0 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 0 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 0 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 0 0 0 0 0 0 0 0 0 0 0 1
Jpch, Dept Of Neurology, Jiangxi Provincial Children’s Hospital 1 0 0 0 0 0 0 0 0 0 0 0 1
EVOGEN 0 1 0 0 0 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 0 0 0 0 0 0 1
SC Genetica Medica, ASST Santi Paolo e Carlo 0 1 0 0 0 0 0 0 0 0 0 0 1

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