ClinVar Miner

Variants studied for carbohydrate metabolism disease

Included ClinVar conditions (307):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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

pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found established risk allele likely risk allele uncertain risk allele other not provided total
7223 6170 17026 20185 3051 21 5 2 1 131 161 8 337 48885

Gene and significance breakdown #

Total genes and gene combinations: 437
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found established risk allele likely risk allele uncertain risk allele other not provided total
GAA 478 447 908 1080 87 0 0 0 0 0 0 3 9 2566
AGL 333 324 956 998 72 0 0 0 0 0 0 0 12 2494
MAN2B1 160 194 403 822 54 0 0 0 0 0 0 0 6 1481
PC 73 106 235 902 43 0 0 0 0 0 0 0 2 1289
PYGM 177 171 345 672 47 0 0 0 0 0 0 0 15 1253
IDUA 183 144 311 684 45 0 0 0 0 0 0 2 14 1247
HGSNAT 97 66 358 495 36 0 0 0 0 0 0 0 4 991
NAGLU 137 117 349 452 20 0 0 0 0 0 0 0 9 986
GALNS 206 201 360 338 41 0 0 1 0 0 0 0 9 969
SGSH 122 128 358 443 39 0 0 0 0 0 0 0 4 956
SLC37A4 113 95 420 376 26 0 0 0 0 0 0 0 3 951
GLB1 173 115 205 452 30 0 0 0 0 0 0 0 2 886
GBE1 136 127 221 472 32 0 0 0 0 0 0 0 5 885
HLCS 91 119 265 430 50 0 0 0 0 0 0 0 0 872
PHKB 78 36 253 482 41 0 0 0 0 0 0 0 2 849
PFKM 48 84 167 524 41 0 0 0 0 0 0 0 1 825
ABCC8 120 197 569 57 34 0 0 0 0 0 21 0 13 814
GNS 54 16 232 396 31 0 0 0 0 0 0 0 0 704
PRKAG2 13 7 303 356 28 0 0 0 0 0 0 0 0 699
ARSB 113 125 245 235 36 0 0 0 0 0 0 0 0 668
GALT 163 183 144 255 18 0 0 0 0 0 0 0 9 637
G6PD 125 180 132 254 36 0 0 0 1 0 0 0 2 634
IDS 286 174 73 140 26 6 0 0 0 0 0 0 3 622
GCK 147 241 146 70 87 0 0 0 0 49 53 0 6 608
IDS, LOC106050102 266 158 58 160 39 7 0 0 0 0 0 0 2 606
BTD 167 169 194 200 14 0 0 0 0 0 0 0 6 605
MANBA 66 32 181 306 39 0 0 0 0 0 0 0 1 596
GUSB 57 33 161 313 24 0 0 0 0 0 0 1 0 555
DLD 57 79 129 298 38 0 0 0 0 0 0 0 0 552
LAMP2 92 20 231 153 75 0 0 0 0 0 0 0 1 551
G6PC1 111 85 170 215 26 0 0 0 0 0 0 0 8 538
GYS1 23 10 274 196 19 0 0 0 0 0 0 0 2 505
SLC17A5 77 84 127 233 29 0 0 0 0 0 0 0 2 501
AGA 61 72 156 232 29 0 0 0 0 0 0 0 0 486
VRK1 64 28 147 248 13 0 0 0 0 0 0 0 1 480
CTSA 44 18 132 270 19 0 0 0 0 0 0 0 0 466
AGXT 227 147 129 40 32 0 0 0 0 0 0 0 13 465
ALDOB 74 107 86 243 26 0 0 0 0 0 0 0 9 463
GALK1 60 66 88 286 16 0 0 0 0 0 0 0 0 461
PDHA1 77 45 78 204 67 0 0 0 0 0 0 0 0 444
RBCK1 27 8 183 198 20 0 0 0 0 0 0 0 0 433
HNF1A 94 108 124 92 78 0 0 0 0 31 25 0 3 418
PHKA1 19 5 229 141 36 0 0 0 0 0 0 0 0 415
HNF1B 153 86 104 75 44 0 0 0 0 19 17 0 0 413
SLC5A1 16 8 185 172 39 0 0 0 0 0 0 0 0 396
HNF4A 38 57 165 85 132 0 0 0 0 14 22 0 2 358
MAN1B1 24 11 169 148 42 0 0 0 0 0 0 0 0 358
SLC2A1 85 51 136 54 52 0 0 0 0 0 0 0 11 358
HYAL1 40 2 112 191 15 0 0 0 0 0 0 0 0 345
GALE 31 24 85 209 11 0 0 0 0 0 0 0 5 329
FUCA1 57 18 108 141 12 0 0 0 0 0 0 0 0 320
NHLRC1 27 11 185 88 16 0 0 0 0 0 0 0 5 318
PHKA2 64 44 111 73 40 0 0 0 0 0 0 0 1 311
LIAS 20 8 151 124 11 0 0 0 0 0 0 0 4 308
PHKG2 40 11 75 194 13 0 0 0 0 0 0 0 0 308
SI 17 20 180 61 22 0 0 0 0 0 0 0 0 288
PDHB 24 19 58 182 21 0 0 0 0 0 0 0 0 281
ENO3 6 2 141 125 22 0 0 0 0 0 0 0 1 280
FBP1 45 17 64 151 22 0 0 0 0 0 0 0 1 277
HADH 18 23 91 166 22 0 0 0 0 7 13 0 0 267
PGAP1 24 12 110 99 26 0 0 0 0 0 0 0 1 265
PYGL 38 23 111 74 29 0 0 0 0 0 0 0 18 254
HOGA1 47 78 125 19 14 0 0 0 0 0 0 0 2 237
IDUA, SLC26A1 40 18 68 117 12 0 0 0 0 0 0 2 4 237
KCNJ11 30 29 186 24 29 0 0 0 0 1 0 0 24 235
SLC2A2 37 11 102 70 28 0 0 0 0 0 0 0 0 235
GRHPR 53 103 65 31 23 0 0 0 0 0 0 0 4 226
ALDOA, LOC112694756 4 4 109 105 11 0 0 0 0 0 0 0 1 220
ARSB, LOC129994126 42 48 54 100 5 0 0 0 0 0 0 0 0 214
EXOSC3 28 13 65 104 10 0 0 0 0 0 0 0 2 204
GYG1 23 5 94 73 13 0 0 0 0 0 0 0 0 203
LOC130060903, NAGLU 30 19 72 88 0 0 0 0 0 0 0 0 0 199
NAGA 20 8 51 89 16 0 0 0 0 0 0 0 0 177
GYS2 20 14 84 45 34 0 0 0 0 0 0 0 0 173
DLAT 11 6 62 82 15 0 0 0 0 0 0 0 0 170
CA5A 13 5 66 59 13 0 0 0 0 0 0 0 4 150
LDHA 5 2 86 54 13 0 0 0 0 0 0 0 0 150
LOC126863160, NAGA 10 5 29 104 4 0 0 0 0 0 0 0 1 143
GLUD1 12 5 74 42 14 0 0 0 0 0 0 0 0 134
LCT 4 10 81 13 17 0 0 0 0 0 0 0 1 119
PKLR 24 26 67 4 4 0 0 0 0 0 0 0 0 119
PRSS12 1 2 90 11 10 0 0 0 0 0 0 0 2 113
KLF11 2 0 68 20 24 0 0 0 0 0 0 0 0 111
TRAPPC9 22 12 59 4 11 0 0 0 0 0 0 0 2 107
HGSNAT, LOC130000316 6 4 28 69 3 0 0 0 0 0 0 0 0 105
BLK 4 0 50 25 30 0 0 0 0 0 0 0 0 104
NSUN2 9 14 54 8 18 0 0 0 0 0 0 0 1 101
PDHX 12 10 45 8 26 0 0 0 0 0 0 0 2 100
PCK1 6 2 65 11 18 0 0 0 0 0 0 0 0 96
DBNL, PGAM2 7 1 56 35 4 0 0 0 0 0 0 0 1 93
SLC5A2 11 10 65 2 4 0 0 0 0 0 0 0 0 89
GALNS, LOC130059762, TRAPPC2L 18 7 31 38 2 0 0 0 0 0 0 0 1 88
NEUROD1 2 0 61 13 10 0 0 0 0 0 0 0 0 84
GPI 20 11 40 8 6 0 0 0 0 0 0 0 0 78
NEU1 28 12 32 3 5 0 0 0 0 0 0 0 0 75
PAX4 2 0 40 26 8 0 0 0 0 0 0 0 0 73
TPI1 8 3 41 10 12 0 0 0 0 0 0 0 0 69
GALNS, LOC126862447 11 9 22 30 6 0 0 1 0 0 0 0 0 68
GALT, LOC130001683 19 22 16 22 0 0 0 0 0 0 0 0 0 66
PGK1 16 3 36 12 2 0 0 0 0 0 0 0 0 66
LOC129936949, PDHB 0 2 12 52 1 0 0 0 0 0 0 0 0 65
PDX1 2 10 24 30 7 0 0 0 0 0 0 0 1 64
TUSC3 8 5 24 21 8 0 0 0 0 0 0 0 0 64
SLC16A1 2 2 45 10 4 0 0 0 0 0 0 0 0 63
LOC129999660, PRKAG2 0 0 27 32 3 0 0 0 0 0 0 0 0 61
KDM5B 12 19 22 1 5 0 0 0 0 0 0 0 2 58
CC2D1A 3 5 42 3 3 0 0 0 0 0 0 0 1 56
LOC129391064, MAN2B1 7 11 15 27 1 0 0 0 0 0 0 0 0 54
LOC129992886, MANBA 2 1 19 34 0 0 0 0 0 0 0 0 0 54
HNF1B, LOC126862549 15 14 14 9 6 0 0 0 0 2 2 0 0 53
IDS, LOC130068781 22 0 3 25 4 0 0 0 0 0 0 0 0 52
INS, INS-IGF2 12 6 24 6 2 0 0 0 0 8 2 0 24 52
LOC130063650, MAN2B1 5 4 26 23 0 0 0 0 0 0 0 0 0 52
FUCA1, LOC126805661 6 1 21 26 2 0 0 0 0 0 0 0 0 51
INSR 3 5 16 23 2 0 0 0 0 0 3 0 0 50
LOC129996727, SLC17A5 5 4 15 26 3 0 0 0 0 0 0 0 0 49
GLB1, LOC129936434, TMPPE 5 1 12 27 3 0 0 0 0 0 0 0 0 47
CEL 3 6 24 13 5 0 0 0 0 0 0 0 0 45
C12orf43, HNF1A 3 2 24 7 25 0 0 0 0 0 1 0 1 43
CGREF1, KHK 0 0 27 4 12 0 0 0 0 0 0 0 0 43
FMN2 5 3 20 6 8 0 0 0 0 0 0 0 1 43
LOC112449713, PHKB 1 1 16 26 1 0 0 0 0 0 0 0 0 43
LINS1 5 16 21 1 0 0 0 0 0 0 0 0 0 41
TALDO1 3 1 31 2 3 0 0 0 0 0 0 0 1 41
ADK 2 3 23 5 8 0 0 0 0 0 0 0 0 40
KHK 2 0 26 2 7 0 0 0 0 0 0 0 0 37
RPIA 6 2 23 2 3 0 0 0 0 0 0 0 0 36
G6PD, IKBKG 2 7 16 9 3 0 0 0 0 0 0 0 0 35
MBOAT7 8 11 20 0 0 0 0 0 0 0 0 0 0 35
LDHB 0 0 24 2 4 4 0 0 0 0 0 0 0 34
LOC130063648, MAN2B1 2 4 12 17 0 0 0 0 0 0 0 0 0 34
RUSC2 4 1 24 4 2 0 0 0 0 0 0 0 0 34
GUSB, LOC126860055 4 3 6 21 2 0 0 0 0 0 0 0 0 33
DLAT, PIH1D2 1 1 16 13 3 0 0 0 0 0 0 0 0 32
HK1 8 8 8 1 7 0 0 0 0 0 0 0 1 32
MAP3K15, PDHA1 0 0 12 1 18 0 0 0 0 0 0 0 0 31
MED23 9 7 12 2 0 0 0 0 0 0 0 0 4 30
RUSF1, SLC5A2 1 1 23 4 2 0 0 0 0 0 0 0 0 29
TRMT1 9 10 9 0 1 0 0 0 0 0 0 0 0 29
ELP2 8 7 14 0 0 0 0 0 0 0 0 0 3 27
LIAS, LOC112939935 0 0 22 5 0 0 0 0 0 0 0 0 0 27
LOC130058947, PHKB 0 0 11 16 1 0 0 0 0 0 0 0 0 27
NGLY1 9 10 10 1 0 0 0 0 0 0 0 0 0 27
NDST1 4 2 16 1 5 0 0 0 0 0 0 0 0 26
ALKBH8 6 4 9 1 5 0 0 0 0 0 0 0 0 23
EPM2A, EPM2A-DT, LOC129997381 3 7 8 2 1 0 0 0 0 0 0 0 2 22
ABCC8, LOC110121471 3 1 10 8 4 0 0 0 0 0 0 0 0 21
APC2 3 2 13 0 2 0 0 0 0 0 0 0 1 21
LOC132089454, SLC17A5 3 7 2 10 1 0 0 0 0 0 0 0 0 21
PIDD1 10 3 8 2 0 0 0 0 0 0 0 0 0 21
BLK, LOC126860302 0 0 13 4 3 0 0 0 0 0 0 0 0 20
METTL23 6 4 9 1 0 0 0 0 0 0 0 0 0 20
WASHC4 6 6 9 0 1 0 0 0 0 0 0 0 0 20
LOC130061900, SGSH 4 3 6 9 0 0 0 0 0 0 0 0 0 19
EPM2A 7 3 7 0 1 0 0 0 0 0 0 0 2 18
GLYCTK 3 3 15 0 0 0 0 0 0 0 0 0 3 18
LOC130005549, PDHX 3 2 6 2 6 0 0 0 0 0 0 0 0 18
C1orf105, PIGC 4 4 10 0 2 0 0 0 0 0 0 0 0 17
DBNL, LOC129998343, PGAM2 3 2 11 4 1 0 0 0 0 0 0 0 0 17
ST3GAL3 6 1 6 2 3 0 0 0 0 0 0 0 0 17
ZBTB11 11 0 5 0 1 0 0 0 0 0 0 0 0 17
LOC129931218, SLC16A1 2 0 13 1 0 0 0 0 0 0 0 0 0 16
LOC130003078, MAN1B1 0 0 6 9 1 0 0 0 0 0 0 0 0 16
APRT, GALNS 0 0 1 8 9 0 0 0 0 0 0 0 0 15
ASCC3 13 0 2 0 0 0 0 0 0 0 0 0 0 15
DBNL, LOC129998342, PGAM2 1 0 6 7 3 0 0 0 0 0 0 0 0 15
EXOSC3, LOC130001814 2 0 3 9 1 0 0 0 0 0 0 0 0 15
FTL, GYS1 0 0 8 5 6 0 0 0 0 0 0 0 0 15
GLUD1, SHLD2 0 0 9 6 0 0 0 0 0 0 0 0 0 15
GYS1, LOC119369037 1 1 6 7 0 0 0 0 0 0 0 0 0 15
LOC126861110, TALDO1 5 1 9 0 0 0 0 0 0 0 0 0 0 15
LOC130003079, MAN1B1 2 2 6 5 2 0 0 0 0 0 0 0 0 15
GYS2, LOC126861480 2 1 7 4 2 0 0 0 0 0 0 0 0 14
HADH, LOC129992931 1 0 8 8 5 0 0 0 0 0 2 0 0 14
LOC130006142, PC 0 1 2 11 0 0 0 0 0 0 0 0 0 14
TNIK 1 0 5 1 7 0 0 0 0 0 0 0 0 14
CTSA, LOC130065974 2 0 6 7 0 0 0 0 0 0 0 0 0 13
FUCA1, LOC129929685 0 0 6 6 2 0 0 0 0 0 0 0 0 13
GLUD1, LOC130004255, SHLD2 0 0 6 7 1 0 0 0 0 0 0 0 0 13
GRIK2 2 0 10 1 0 0 0 0 0 0 0 0 0 13
LINGO1 3 0 6 0 4 0 0 0 0 0 0 0 0 13
TKT 3 2 3 0 6 0 0 0 0 0 0 0 1 13
CCDC40, GAA 0 0 1 4 7 0 0 0 0 0 0 0 0 12
LCT, LOC126806353 0 0 7 2 3 0 0 0 0 0 0 0 0 12
APIP, LOC130005547, PDHX 0 0 4 2 5 0 0 0 0 0 0 0 0 11
CRBN 3 1 4 0 3 0 0 0 0 0 0 0 0 11
DBNL, LOC129998341, PGAM2 0 0 8 4 0 0 0 0 0 0 0 0 0 11
EXOSC8 2 2 6 1 1 0 0 0 0 0 0 0 1 11
GALK1, ITGB4 1 0 4 2 5 0 0 0 0 0 0 0 0 11
MCM6 1 0 6 0 0 0 4 0 0 0 0 0 0 11
METTL5 4 4 4 0 0 0 0 0 0 0 0 0 0 11
NRL, PCK2 1 0 8 1 1 0 0 0 0 0 0 0 1 11
CRADD 5 1 5 0 0 0 0 0 0 0 0 0 1 10
HCN3, PKLR 0 0 9 0 1 0 0 0 0 0 0 0 0 10
PDP1 3 0 6 0 1 0 0 0 0 0 0 0 0 10
ZC3H14 2 0 5 2 2 0 0 0 0 0 0 0 0 10
APPL1 2 0 1 3 4 0 0 0 0 0 0 0 0 9
CAMK2A 1 2 1 0 5 0 0 0 0 0 0 0 0 9
CEP104 3 0 3 3 0 0 0 0 0 0 0 0 0 9
DCPS 2 1 4 0 2 0 0 0 0 0 0 0 0 9
DLD, LOC129999127 0 0 2 7 0 0 0 0 0 0 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 0 0 0 0 0 9
LMAN2L 1 1 7 0 0 0 0 0 0 0 0 0 0 9
RSRC1 5 1 3 0 0 0 0 0 0 0 0 0 0 9
BLK, LOC126860303 0 0 1 3 5 0 0 0 0 0 0 0 0 8
GYS1, LOC130064896 0 0 5 1 2 0 0 0 0 0 0 0 0 8
LDHD 7 3 0 0 0 0 0 0 0 0 0 0 0 8
SLC16A12 1 0 6 1 0 0 0 0 0 0 0 0 0 8
ABCC8, KCNJ11 0 0 5 7 4 0 0 0 0 0 0 0 1 7
AGA, AGA-DT 2 6 1 0 0 0 0 0 0 0 0 0 0 7
CTSA, NEURL2 0 0 5 2 0 0 0 0 0 0 0 0 0 7
EIF3F 1 3 2 0 2 0 0 0 0 0 0 0 0 7
FBXO31 2 1 4 0 0 0 0 0 0 0 0 0 1 7
GALM 5 0 1 0 1 0 0 0 0 0 0 0 0 7
GYG1, LOC129937737 0 3 2 2 0 0 0 0 0 0 0 0 0 7
HLCS, LOC130066639 0 0 1 0 6 0 0 0 0 0 0 0 0 7
HNMT 2 2 4 0 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 0 7
C12orf4 2 5 0 0 0 0 0 0 0 0 0 0 0 6
DCPS, GSEC 1 2 4 1 0 0 0 0 0 0 0 0 0 6
GNPTAB 6 0 0 0 0 0 0 0 0 0 0 0 0 6
MIR6505, PFKM 0 1 0 5 0 0 0 0 0 0 0 0 0 6
SLC2A1, SLC2A1-DT 2 0 3 0 1 0 0 0 0 0 0 0 0 6
FERRY3 3 2 1 0 0 0 0 0 0 0 0 0 0 5
GLUD1, LOC130004254 0 0 1 4 1 0 0 0 0 0 0 0 0 5
GYS1, LOC130064895 0 0 3 2 0 0 0 0 0 0 0 0 0 5
IMPA1 1 1 3 0 0 0 0 0 0 0 0 0 0 5
LOC129934277, RPIA 0 0 4 0 1 0 0 0 0 0 0 0 0 5
LOC130058864, PHKG2 0 0 4 0 1 0 0 0 0 0 0 0 0 5
TAF13 2 1 1 0 1 0 0 0 0 0 0 0 0 5
​intergenic 3 1 0 0 0 0 0 0 0 0 0 0 0 4
ADK, LOC102723439 1 1 0 1 2 0 0 0 0 0 0 0 0 4
ARSK 3 0 1 0 0 0 0 0 0 0 0 0 0 4
CASP2 4 0 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 0 4
DCPS, TIRAP 1 1 1 0 1 0 0 0 0 0 0 0 0 4
G6PD, IKBKG, LOC107181288 1 0 2 1 1 0 0 0 0 0 0 0 0 4
GALE, LOC129929682 0 0 3 1 0 0 0 0 0 0 0 0 0 4
HOGA1, LOC130004476 0 0 3 0 1 0 0 0 0 0 0 0 0 4
INS 1 1 2 1 0 0 0 0 0 0 0 0 3 4
INS, TH 0 0 0 4 0 0 0 0 0 0 0 0 0 4
LOC130067582, NAGA 0 0 3 1 0 0 0 0 0 0 0 0 0 4
PTF1A 1 0 1 1 1 0 0 0 0 0 0 0 0 4
TECR 1 0 2 1 0 0 0 0 0 0 0 0 0 4
WDR11 4 0 0 0 0 0 0 0 0 0 0 0 0 4
CASK 1 1 0 1 0 0 0 0 0 0 0 0 0 3
CRBN, TRNT1 2 1 1 0 0 0 0 0 0 0 0 0 0 3
EDC3 2 0 1 0 0 0 0 0 0 0 0 0 0 3
EIF3F, LOC126861132 1 0 2 0 0 0 0 0 0 0 0 0 0 3
EXOSC8, LOC130009581 0 0 3 0 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 0 3
GALE, HMGCL 2 0 0 0 1 0 0 0 0 0 0 0 0 3
HGSNAT, POMK 1 0 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 0 3
LOC130006883, SLC37A4 0 0 2 0 1 0 0 0 0 0 0 0 0 3
NSUN6 3 0 0 0 0 0 0 0 0 0 0 0 0 3
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 1 0 0 0 0 0 0 0 0 0 0 2
AFG3L2 0 1 1 0 0 0 0 0 0 0 0 0 0 2
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 1 0 0 0 0 0 0 0 0 0 0 2
ALDOB, LOC130002261 2 0 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 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 0 2
APRT, CDT1, GALNS, PIEZO1 1 0 1 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 0 2
CTSA, PLTP 0 0 2 0 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 0 2
G6PD, IKBKG, LOC108281126 0 0 0 0 2 0 0 0 0 0 0 0 0 2
GAA, LOC130061897 0 0 2 1 0 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 0 2
GALT, LOC130001682, LOC130001683 2 0 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 0 2
LOC129930369, SLC2A1 0 0 1 1 0 0 0 0 0 0 0 0 0 2
LOC129999670, PRKAG2 0 0 2 0 0 0 0 0 0 0 0 0 0 2
LOC130060902, NAGLU 0 0 2 0 0 0 0 0 0 0 0 0 0 2
LRFN4, PC 2 0 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 0 2
MLKL 1 0 0 1 0 0 0 0 0 0 0 0 0 2
NAA20 2 1 0 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 0 2
PGAM2 1 0 1 0 0 0 0 0 0 0 0 0 0 2
RBCK1, TBC1D20 1 0 1 0 0 0 0 0 0 0 0 0 0 2
SHPK 0 0 0 1 0 1 0 0 0 0 0 0 0 2
SLC25A36 2 0 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 0 2
TREH 1 0 2 0 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 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 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 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 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 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 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 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 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 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 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 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 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 0 1
AGL, SLC35A3 1 0 0 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 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 0 1
AGXT, MAB21L4 1 0 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 0 1
ALDOA, C16orf54, CDIPT, KIF22, MAZ, MVP, PAGR1, PRRT2, QPRT, SPN, ZG16 0 1 0 0 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 0 1
ALDOB, BAAT, GRIN3A, MRPL50, PGAP4, PPP3R2, RNF20, ZNF189 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ALDOB, ZNF189 1 0 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 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 0 1
ANO5 1 0 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 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 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 0 1
APC2, LOC130062956 0 0 1 0 0 0 0 0 0 0 0 0 0 1
APPL1, ASB14 0 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 0 1
APRT, GALNS, LOC130059760 0 0 0 1 0 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 0 1
ARG1, MED23 0 0 0 0 1 0 0 0 0 0 0 0 0 1
ARSB, LOC123497917, LOC129994124, LOC129994125 1 0 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 0 1
ARSK, LOC126807455 0 0 1 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 0 1
ASS1 0 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 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 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 0 1
BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469 1 0 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 0 1
BPIFC, C22orf42, FBXO7, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4 0 0 1 0 0 0 0 0 0 0 0 0 0 1
BRME1, CC2D1A 1 0 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 0 1
C12orf56, CAND1, DYRK2, GNS, GRIP1, HELB, HMGA2, IRAK3, KICS2, LEMD3, LLPH, MSRB3, RASSF3, RXYLT1, SRGAP1, TBC1D30, TBK1, TMBIM4, WIF1, XPOT 1 0 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 0 1
CA5A, JPH3, KLHDC4, SLC7A5 0 0 1 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 0 1
CARD14, SGSH 1 1 0 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 0 1
CC2D1A, LOC129391070 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CD40, CTSA, MMP9, NCOA5, PCIF1, PLTP, SLC12A5, ZNF335 1 0 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 0 1
CDH23 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CEP104, LOC126805586 1 0 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 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 0 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 1 0 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 0 1
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 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 0 1
CTSA, NEURL2, SPATA25 0 0 0 0 1 0 0 0 0 0 0 0 0 1
CUL4B, LAMP2 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 0 0 0 0 0 0 0 1
DCX 0 1 0 0 0 0 0 0 0 0 0 0 0 1
DCXR 0 0 0 0 0 1 0 0 0 0 0 0 0 1
DCXR, LOC130061998 0 0 0 0 0 1 0 0 0 0 0 0 0 1
DIAPH1 0 0 0 1 0 0 0 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 0 0 0 0 0 1
DLD, SLC26A3 1 0 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 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 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 0 1
EEF1D 1 0 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 0 1
EIF4A3, GAA 0 0 1 0 0 0 0 0 0 0 0 0 0 1
FAH 0 1 0 0 0 0 0 0 0 0 0 0 0 1
FBP1, FBP2 1 0 0 0 0 0 0 0 0 0 0 0 0 1
FMN2, LOC126806069 0 0 1 0 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 0 1
FTL, GYS1, LOC119369037 0 0 1 0 1 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 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 0 0 0 0 0 0 0 1
GALK1, LOC130061683 0 0 1 0 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 0 1
GALT, IL11RA 1 0 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 0 1
GATA4 0 0 1 0 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 0 1
GBE1, LOC123002309, LOC123002310, LOC129937077, LOC129937078 1 0 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 0 1
GRIA1 1 0 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 0 1
GYS1, LOC130064893 0 0 1 0 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 0 1
HGSNAT, POTEA 0 0 1 0 0 0 0 0 0 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 0 0 0 0 0 1
IDS, LOC106050102, LOC130068781 1 0 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 0 1
KHK, LOC129933358 0 0 0 0 1 0 0 0 0 0 0 0 0 1
KLB, LIAS, RPL9 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LCT, MCM6 0 0 0 0 0 0 1 0 0 0 0 0 0 1
LHFPL5 1 0 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 0 1
LIAS, RPL9 0 0 1 0 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 0 1
LMNA 0 0 0 1 0 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 0 1
LOC110121276, PRKAG2 0 0 0 0 1 0 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 0 1
LOC126806684, TKT 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC126862464, SHPK 0 0 0 0 0 1 0 0 0 0 0 0 0 1
LOC127407129, RFX6 0 1 0 0 0 0 0 0 0 0 0 0 0 1
LOC129936379, NGLY1 0 1 0 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 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 0 1
LOC130000734, PDP1 0 0 0 0 1 0 0 0 0 0 0 0 0 1
LOC130003078, LOC130003079, MAN1B1 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC130003080, MAN1B1 1 0 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 0 1
LOC130008643, WASHC4 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC130055618, PYGL 0 0 0 0 1 0 0 0 0 0 0 0 0 1
LOC130056407, VRK1 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC130058907, SLC5A2 1 1 0 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 0 1
LOC130065264, RBCK1 0 0 1 0 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 0 1
MAN2B1, ZNF564 1 0 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 0 1
MMAB 0 0 0 0 1 0 0 0 0 0 0 0 0 1
MOCOS 0 0 1 0 0 0 0 0 0 0 0 0 0 1
MOK 0 0 1 0 0 0 0 0 0 0 0 0 0 1
MROH6 0 0 1 0 0 0 0 0 0 0 0 0 0 1
MT-TL1 1 0 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 0 1
NHLRC1, TPMT 1 0 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 0 1
PAX2 0 0 1 0 0 0 0 0 0 0 0 0 0 1
PIK3CA 0 1 0 0 0 0 0 0 0 0 0 0 0 1
PITX1 0 1 0 0 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 0 1
RNF31 0 0 1 0 0 0 0 0 0 0 0 0 0 1
SCNN1B 0 0 1 0 0 0 0 0 0 0 0 0 0 1
SGCB 0 1 0 0 0 0 0 0 0 0 0 0 0 1
SGSH, SLC26A11 1 0 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 0 1
TMEM276, TMEM276-ZFTRAF1, ZFTRAF1 0 0 1 0 0 0 0 0 0 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 0 0 0 0 0 0 1
YARS1 0 0 1 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 367
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found established risk allele likely risk allele uncertain risk allele other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4117 1192 8938 18439 1491 0 0 0 0 0 0 8 0 34185
Illumina Laboratory Services, Illumina 81 31 4158 682 1211 0 0 0 0 0 0 0 0 6022
Natera, Inc. 413 96 1434 437 334 0 0 0 0 0 0 0 0 2714
Baylor Genetics 795 1091 437 0 0 0 0 0 0 0 0 0 0 2323
Counsyl 151 966 760 211 5 0 0 0 0 0 0 1 0 2094
Fulgent Genetics, Fulgent Genetics 304 217 920 391 47 0 0 0 0 0 0 0 0 1879
Genome-Nilou Lab 247 167 642 242 512 0 0 0 0 0 0 0 0 1810
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 121 715 174 342 0 0 0 0 131 161 0 0 1700
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 597 472 361 2 9 0 0 0 0 0 0 0 0 1441
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 768 480 26 25 11 0 0 0 0 0 0 0 6 1316
OMIM 1042 0 2 0 4 8 5 0 0 0 0 0 0 1061
Revvity Omics, Revvity 198 160 522 2 0 0 0 0 0 0 0 0 0 882
Myriad Genetics, Inc. 55 465 27 0 0 0 0 0 0 0 0 0 0 547
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 161 129 162 50 19 0 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 0 433
Ambry Genetics 70 49 91 156 32 0 0 0 0 0 0 0 0 398
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 35 16 64 75 129 0 0 0 0 0 0 0 0 319
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 147 81 60 7 15 0 0 0 0 0 0 0 0 310
Mendelics 158 63 30 22 33 0 0 0 0 0 0 0 0 306
Dunham Lab, University of Washington 102 152 20 7 21 0 0 0 0 0 0 0 0 302
GeneReviews 28 0 0 0 4 0 0 0 0 0 0 0 250 282
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 90 81 105 3 2 0 0 0 0 0 0 0 0 280
Neuberg Centre For Genomic Medicine, NCGM 73 93 106 0 0 0 0 0 0 0 0 0 0 272
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 125 42 55 4 0 0 0 0 0 0 0 0 0 226
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 22 4 0 0 0 0 0 0 0 0 0 218
3billion 80 46 53 34 0 0 0 0 0 0 0 0 0 213
New York Genome Center 15 7 120 0 0 0 0 0 1 0 0 0 0 143
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 72 50 14 0 0 0 0 0 0 0 0 0 0 136
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 78 52 0 0 0 0 0 0 0 0 0 0 0 130
Genomic Research Center, Shahid Beheshti University of Medical Sciences 41 24 55 4 1 0 0 0 0 0 0 0 0 125
Genetic Services Laboratory, University of Chicago 71 37 7 1 0 0 0 0 0 0 0 0 0 116
Institute of Human Genetics, University of Leipzig Medical Center 44 31 35 3 1 0 0 0 0 0 0 0 0 114
Geisinger Clinic, Geisinger Health System 73 24 0 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 0 91
Juno Genomics, Hangzhou Juno Genomics, Inc 37 31 23 0 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 0 86
Centre for Mendelian Genomics, University Medical Centre Ljubljana 23 18 31 0 4 0 0 0 0 0 0 0 0 76
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 45 22 3 0 0 0 0 0 0 0 0 0 0 70
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 16 51 0 0 0 0 0 0 0 0 0 0 0 67
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 34 25 6 0 0 0 0 0 0 0 0 0 0 65
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 10 1 1 9 44 0 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 0 64
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 44 14 3 2 0 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 0 62
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 21 27 13 0 0 0 0 0 0