ClinVar Miner

Variants studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
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Gene type:
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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
6613 5533 17145 20254 3099 21 1 2 131 140 8 347 48113

Gene and significance breakdown #

Total genes and gene combinations: 422
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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 464 424 904 1080 87 0 0 0 0 0 3 9 2538
AGL 327 304 953 997 72 0 0 0 0 0 0 12 2470
MAN2B1 148 176 402 821 54 0 0 0 0 0 0 5 1459
PC 72 95 234 902 43 0 0 0 0 0 0 2 1277
IDUA 179 142 307 684 45 0 0 0 0 0 2 14 1241
PYGM 172 158 345 672 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 190 192 359 338 41 0 0 1 0 0 0 9 950
SGSH 118 115 357 443 39 0 0 0 0 0 0 4 944
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 130 110 222 472 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 112 190 586 57 36 0 0 0 0 0 0 13 804
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 158 175 144 255 18 0 0 0 0 0 0 9 626
G6PD 118 175 128 252 36 0 0 0 0 0 0 2 619
GCK 141 235 143 68 87 0 0 0 49 53 0 6 595
BTD 164 157 196 200 14 0 0 0 0 0 0 6 593
MANBA 63 31 180 304 39 0 0 0 0 0 0 1 591
GUSB 56 29 159 310 24 0 0 0 0 0 1 0 548
DLD 55 75 128 298 38 0 0 0 0 0 0 0 546
LAMP2 87 17 230 153 75 0 0 0 0 0 0 1 542
G6PC1 109 82 170 215 26 0 0 0 0 0 0 8 536
GYS1 21 10 274 196 19 0 0 0 0 0 0 2 503
SLC17A5 74 79 126 233 29 0 0 0 0 0 0 2 494
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 42 17 254 119 46 0 0 0 0 0 0 8 470
CTSA 44 18 131 270 19 0 0 0 0 0 0 0 465
ALDOB 73 101 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 223 134 125 40 32 0 0 0 0 0 0 13 450
PDHA1 76 43 77 204 67 0 0 0 0 0 0 0 439
RBCK1 25 7 183 198 20 0 0 0 0 0 0 0 430
HNF1A 88 107 123 88 78 0 0 0 31 25 0 3 410
PHKA1 19 5 224 141 36 0 0 0 0 0 0 0 410
SLC5A1 16 8 184 172 39 0 0 0 0 0 0 0 395
HNF1B 145 80 93 73 44 0 0 0 19 17 0 0 389
IDS 113 49 72 138 26 6 0 0 0 0 0 3 369
IDS, LOC106050102 91 48 51 160 39 7 0 0 0 0 0 2 359
MAN1B1 22 6 170 148 42 0 0 0 0 0 0 0 354
SLC2A1 84 46 135 54 52 0 0 0 0 0 0 11 352
HNF4A 36 52 165 84 132 0 0 0 14 22 0 2 351
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 10 184 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 41 110 73 40 0 0 0 0 0 0 1 306
PHKG2 38 10 72 194 13 0 0 0 0 0 0 0 302
SI 16 20 180 61 22 0 0 0 0 0 0 0 288
ENO3 6 2 141 125 22 0 0 0 0 0 0 1 280
PDHB 24 15 58 182 21 0 0 0 0 0 0 0 279
FBP1 43 16 64 151 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 12 110 99 26 0 0 0 0 0 0 1 262
PYGL 38 23 111 74 29 0 0 0 0 0 0 18 254
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 27 183 24 29 0 0 0 1 0 0 24 231
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
ARSB, LOC129994126 40 43 54 100 5 0 0 0 0 0 0 0 213
GRHPR 50 92 64 31 23 0 0 0 0 0 0 4 213
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 51 89 16 0 0 0 0 0 0 0 174
DLAT 10 5 63 82 15 0 0 0 0 0 0 0 169
GYS2 17 13 85 45 34 0 0 0 0 0 0 0 169
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 73 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
PKLR 20 20 64 4 4 0 0 0 0 0 0 0 107
HGSNAT, LOC130000316 6 4 28 69 3 0 0 0 0 0 0 0 105
BLK 4 0 47 25 30 0 0 0 0 0 0 0 101
TRAPPC9 20 11 57 3 11 0 0 0 0 0 0 2 101
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 44 7 26 0 0 0 0 0 0 2 95
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 10 8 58 2 4 0 0 0 0 0 0 0 79
GPI 17 8 38 8 6 0 0 0 0 0 0 0 73
PAX4 2 0 39 26 8 0 0 0 0 0 0 0 73
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 3 40 10 12 0 0 0 0 0 0 0 68
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
PDX1 2 10 23 27 7 0 0 0 0 0 0 2 60
SLC16A1 1 1 44 10 4 0 0 0 0 0 0 0 60
LOC129992886, MANBA 2 1 19 34 0 0 0 0 0 0 0 0 54
CC2D1A 3 4 41 2 3 0 0 0 0 0 0 1 53
INS, INS-IGF2 11 6 24 6 2 0 0 0 8 2 0 24 52
LOC129391064, MAN2B1 7 9 15 27 1 0 0 0 0 0 0 0 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
HNF1B, LOC126862549 14 13 14 9 6 0 0 0 2 2 0 0 51
LOC129996727, SLC17A5 5 4 15 26 3 0 0 0 0 0 0 0 49
KDM5B 9 14 20 1 5 0 0 0 0 0 0 2 48
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
C12orf43, HNF1A 3 1 24 7 25 0 1 0 0 1 0 1 43
CEL 3 5 22 13 5 0 0 0 0 0 0 0 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
FMN2 5 3 20 5 8 0 0 0 0 0 0 1 42
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 5 15 20 1 0 0 0 0 0 0 0 0 39
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
GUSB, LOC126860055 4 3 6 21 2 0 0 0 0 0 0 0 33
DLAT, PIH1D2 1 1 15 13 3 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
RUSC2 2 1 23 1 2 0 0 0 0 0 0 0 29
MED23 9 6 11 0 0 0 0 0 0 0 0 4 28
RUSF1, SLC5A2 1 0 23 3 2 0 0 0 0 0 0 0 28
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
NDST1 4 2 17 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 7 13 0 0 0 0 0 0 0 0 3 24
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
NGLY1 8 6 7 1 0 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
WASHC4 6 5 9 0 1 0 0 0 0 0 0 0 19
ALKBH8 4 4 6 1 5 0 0 0 0 0 0 0 18
EPM2A, EPM2A-DT, LOC129997381 3 4 7 2 1 0 0 0 0 0 0 2 18
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
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
APC2 3 0 9 0 2 0 0 0 0 0 0 1 15
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
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
ZBTB11 8 0 5 0 1 0 0 0 0 0 0 0 14
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
LINGO1 3 0 6 0 4 0 0 0 0 0 0 0 13
PIDD1 8 1 3 1 0 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
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
METTL5 4 4 3 0 0 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
DCPS 2 1 4 0 2 0 0 0 0 0 0 0 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
LMAN2L 1 1 7 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
GYS1, LOC130064896 0 0 5 1 2 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 4 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
DCPS, TIRAP 1 1 1 0 1 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
EDC3 2 0 1 0 0 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
CFAP61, CRNKL1, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, RALGAPA2, RIN2, SLC24A3, XRN2 1 1 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
EXOSC8, LOC130009581 0 0 2 0 0 0 0 0 0 0 0 0 2
G6PD, IKBKG, LOC107181288, LOC129929052 0 1 1 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
AFG3L2 0 1 0 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
BANF2, BFSP1, CD93, CFAP61, CRNKL1, CST1, CST11, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, DSTN, DTD1, DZANK1, FOXA2, GGTLC1, GZF1, INSM1, KAT14, KIF16B, KIZ, MGME1, NAA20, NAPB, NKX2-2, NKX2-4, NXT1, OTOR, OVOL2, PAX1, PCSK2, PET117, POLR3F, RALGAPA2, RBBP9, RIN2, RRBP1, SCP2D1, SEC23B, SLC24A3, SNRPB2, SNX5, SSTR4, THBD, XRN2, ZNF133 1 0 0 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
BRME1, CC2D1A 1 0 0 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
CD93, CFAP61, CST1, CST11, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, FOXA2, GGTLC1, GZF1, INSM1, KIZ, NAPB, NKX2-2, NKX2-4, NXT1, PAX1, RALGAPA2, SSTR4, THBD, XRN2 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
CFAP61, CRNKL1, DTD1, DZANK1, FOXA2, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, POLR3F, RALGAPA2, RBBP9, RIN2, SCP2D1, SEC23B, SLC24A3, XRN2, ZNF133 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
EEFSEC 0 1 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, 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
LOC127407129, RFX6 0 1 0 0 0 0 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: 341
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 4249 685 1249 0 0 0 0 0 0 0 6147
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 675 427 27 25 11 0 0 0 0 0 0 7 1172
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 68 46 89 143 32 0 0 0 0 0 0 0 378
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
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 137 80 50 5 15 0 0 0 0 0 0 0 287
Dunham Lab, University of Washington 96 148 17 3 20 0 0 0 0 0 0 0 284
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 71 71 91 2 2 0 0 0 0 0 0 0 237
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 Centre For Genomic Medicine, NCGM 46 55 60 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 78 53 0 0 0 0 0 0 0 0 0 0 131
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 60 47 12 0 0 0 0 0 0 0 0 0 119
Institute of Human Genetics, University of Leipzig Medical Center 42 29 32 3 1 0 0 0 0 0 0 0 107
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
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 31 25 4 0 0 0 0 0 0 0 0 0 60
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
Molecular Genetics, Royal Melbourne Hospital 13 7 8 2 8 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 11 16 0 1 0 0 0 0 0 0 0 0 28
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
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 Minnesot