Term: | Abnormality of the male genitalia |
|
Accession: | HP:0010461
|
browse the term
|
Definition: | Abnormality of the male genital system. |
Synonyms: | exact_synonym: | Abnormal male genitals |
| xref: | UMLS:C4023819 |
|
|
|
G |
ATRX |
ATRX chromatin remodeler |
|
IAGP |
|
HPO |
|
ORPHA:847 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
|
|
G |
HFE |
homeostatic iron regulator |
|
IAGP |
ClinVar Annotator: match by term: Abnormality of the male genitalia |
ClinVar |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:11040194 PMID:11532995 PMID:11812557 PMID:11903354 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12693884 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:20301613 PMID:20471131 PMID:21243428 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27518069 PMID:27659401 PMID:27890643 PMID:28492532 PMID:31061747 PMID:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
|
|
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
|
|
G |
PEX19 |
peroxisomal biogenesis factor 19 |
|
IAGP |
|
HPO |
|
MIM:614886 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
|
|
|
G |
DHH |
desert hedgehog signaling molecule |
|
IAGP |
|
HPO |
|
MIM:233420 |
NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801
|
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
MIM:400044 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
USP26 |
ubiquitin specific peptidase 26 |
|
IAGP |
|
HPO |
|
MIM:301101 |
NCBI chr X:133,023,168...133,097,109
Ensembl chr X:133,023,168...133,097,109
|
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:983 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DVL3 |
dishevelled segment polarity protein 3 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
KLLN |
killin, p53 regulated DNA replication inhibitor |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
ORPHA:3339 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
|
IAGP |
|
HPO |
|
ORPHA:2461 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
|
|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
IAGP |
|
HPO |
|
ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
|
|
G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
|
|
G |
SDHC |
succinate dehydrogenase complex subunit C |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
|
|
G |
SDHD |
succinate dehydrogenase complex subunit D |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
|
|
G |
SEC23B |
SEC23 homolog B, COPII coat complex component |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
|
|
G |
SMAD4 |
SMAD family member 4 |
|
IAGP |
|
HPO |
|
ORPHA:2588 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
|
|
G |
USF3 |
upstream transcription factor family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646
|
|
G |
WNT4 |
Wnt family member 4 |
|
IAGP |
|
HPO |
|
ORPHA:139466 |
NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
|
|
G |
WNT5A |
Wnt family member 5A |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
|
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
susceptibility |
IAGP |
DNA:snp:intron:IVS1-355T>A (rs3891248) |
RGD |
PMID:18483343 |
RGD:7207432 |
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
|
|
G |
NAB2 |
NGFI-A binding protein 2 |
|
IAGP |
|
HPO |
|
ORPHA:2126 |
NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
IAGP |
DNA:deletion |
RGD |
PMID:17700571 |
RGD:2292502 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
|
|
G |
STAT6 |
signal transducer and activator of transcription 6 |
|
IAGP |
|
HPO |
|
ORPHA:2126 |
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
|
|
|
G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TOE1 |
target of EGR1, exonuclease |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
|
|
|
G |
ACTB |
actin beta |
|
IAGP |
|
HPO |
|
ORPHA:64755 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
|
|
G |
MAPRE2 |
microtubule associated protein RP/EB family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:2505 |
NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
|
|
G |
NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
PLAG1 |
PLAG1 zinc finger |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TUBB |
tubulin beta class I |
|
IAGP |
|
HPO |
|
ORPHA:2505 |
NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
|
|
G |
VAMP7 |
vesicle associated membrane protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
|
|
G |
WT1 |
WT1 transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
|
|
G |
WWOX |
WW domain containing oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
|
|
G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
|
|
|
G |
ATM |
ATM serine/threonine kinase |
|
IAGP |
|
HPO |
|
ORPHA:100 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
CTC1 |
CST telomere replication complex component 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
|
|
G |
DKC1 |
dyskerin pseudouridine synthase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
|
|
G |
EHMT1 |
euchromatic histone lysine methyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:96147 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
GJA1 |
gap junction protein alpha 1 |
|
IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
|
|
G |
GJB4 |
gap junction protein beta 4 |
|
IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
|
|
G |
GNAS |
GNAS complex locus |
|
IAGP |
|
HPO |
|
ORPHA:562 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
KDSR |
3-ketodihydrosphingosine reductase |
|
IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228
|
|
G |
LMNA |
lamin A/C |
|
IAGP |
|
HPO |
|
ORPHA:79474 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
NHP2 |
NHP2 ribonucleoprotein |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
|
|
G |
NOP10 |
NOP10 ribonucleoprotein |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
|
|
G |
NPM1 |
nucleophosmin 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
PARN |
poly(A)-specific ribonuclease |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
RTEL1 |
regulator of telomere elongation helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
|
IAGP |
|
HPO |
|
ORPHA:3051 |
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
|
|
G |
TERC |
telomerase RNA component |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
|
|
G |
TERT |
telomerase reverse transcriptase |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
|
|
G |
TINF2 |
TERF1 interacting nuclear factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
|
|
G |
TYMS |
thymidylate synthetase |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
|
|
G |
WRAP53 |
WD repeat containing antisense to TP53 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
|
|
G |
WRN |
WRN RecQ like helicase |
|
IAGP |
|
HPO |
|
ORPHA:902 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
|
|
G |
LHB |
luteinizing hormone subunit beta |
|
IAGP |
|
HPO |
|
MIM:228300 |
NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
|
|
G |
SMS |
spermine synthase |
|
IAGP |
|
HPO |
|
ORPHA:3063 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
|
|
|
G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
|
|
G |
TOE1 |
target of EGR1, exonuclease |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
|
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
MIM:201810 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
MAB21L1 |
mab-21 like 1 |
|
IAGP |
|
HPO |
|
MIM:618479 ORPHA:495875 |
NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764
|
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:983 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
GDF6 |
growth differentiation factor 6 |
|
IAGP |
|
HPO |
|
MIM:613094 |
NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:2753 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
|
G |
ADGRG2 |
adhesion G protein-coupled receptor G2 |
|
IAGP |
|
HPO |
|
MIM:300985 ORPHA:48 |
NCBI chr X:18,989,307...19,122,956
Ensembl chr X:18,989,307...19,122,637
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
MIM:312300 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
CEACAM3 |
CEA cell adhesion molecule 3 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554
|
|
G |
CEACAM6 |
CEA cell adhesion molecule 6 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211
|
|
G |
CFTR |
CF transmembrane conductance regulator |
|
IAGP |
|
HPO |
|
MIM:277180 ORPHA:48 ORPHA:586 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
|
|
G |
CLCA4 |
chloride channel accessory 4 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754
|
|
G |
DCTN4 |
dynactin subunit 4 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,706,840...150,759,095
|
|
G |
EDNRA |
endothelin receptor type A |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
|
|
G |
GCLC |
glutamate-cysteine ligase catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
|
|
G |
GSTM3 |
glutathione S-transferase mu 3 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038
|
|
G |
HFE |
homeostatic iron regulator |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
|
|
G |
HMOX1 |
heme oxygenase 1 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
|
|
G |
HNF1B |
HNF1 homeobox B |
|
IAGP |
|
HPO |
|
ORPHA:93111 |
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
|
|
G |
KCNN4 |
potassium calcium-activated channel subfamily N member 4 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
|
|
G |
MIF |
macrophage migration inhibitory factor |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
|
|
G |
SERPINA1 |
serpin family A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
|
|
G |
SLC11A1 |
solute carrier family 11 member 1 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
|
|
G |
SLC26A9 |
solute carrier family 26 member 9 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460
|
|
G |
SLC6A14 |
solute carrier family 6 member 14 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr X:116,436,606...116,461,458
Ensembl chr X:116,436,606...116,461,458
|
|
G |
SLC9A3 |
solute carrier family 9 member A3 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
|
|
G |
STX1A |
syntaxin 1A |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
|
|
G |
TGFB1 |
transforming growth factor beta 1 |
|
IAGP |
|
HPO |
|
ORPHA:586 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
|
|
|
G |
CYB5A |
cytochrome b5 type A |
|
IAGP |
|
HPO |
|
ORPHA:90796 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:90793 ORPHA:90796 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
|
|
G |
DHCR24 |
24-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
MIM:602398 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
ORPHA:90791 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
MKS1 |
MKS transition zone complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:249000 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
|
|
G |
SC5D |
sterol-C5-desaturase |
|
IAGP |
|
HPO |
|
MIM:607330 |
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
|
|
G |
SRD5A2 |
steroid 5 alpha-reductase 2 |
|
IAGP |
|
HPO |
|
MIM:264600 ORPHA:753 |
NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TBX15 |
T-box transcription factor 15 |
|
IAGP |
|
HPO |
|
MIM:260660 |
NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
|
|
G |
TSPYL1 |
TSPY like 1 |
|
IAGP |
|
HPO |
|
MIM:608800 |
NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
|
|
G |
WT1 |
WT1 transcription factor |
|
IAGP |
|
HPO |
|
MIM:194080 ORPHA:347 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
|
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:983 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
WRN |
WRN RecQ like helicase |
|
IAGP |
|
HPO |
|
ORPHA:902 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
|
|
|
G |
HNF1B |
HNF1 homeobox B |
|
IAGP |
|
HPO |
|
MIM:137920 |
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
|
|
|
G |
HLA-B |
major histocompatibility complex, class I, B |
|
IAGP |
|
HPO |
|
ORPHA:29207 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
|
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
MIM:312300 ORPHA:90797 ORPHA:95706 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
IAGP |
|
HPO |
|
MIM:257300 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
MIM:211380 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:138 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
|
|
G |
COLEC10 |
collectin subfamily member 10 |
|
IAGP |
|
HPO |
|
MIM:248340 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
|
|
G |
CYB5A |
cytochrome b5 type A |
|
IAGP |
|
HPO |
|
MIM:250790 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:90793 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
|
|
G |
DACT1 |
dishevelled binding antagonist of beta catenin 1 |
|
IAGP |
|
HPO |
|
ORPHA:857 |
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
|
|
G |
DHCR7 |
7-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
MIM:270400 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
|
|
G |
FAT4 |
FAT atypical cadherin 4 |
|
IAGP |
|
HPO |
|
MIM:615546 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
MIM:123790 ORPHA:1555 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:93328 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
|
|
G |
HOXA13 |
homeobox A13 |
|
IAGP |
|
HPO |
|
MIM:140000 |
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
|
|
G |
HOXD13 |
homeobox D13 |
|
IAGP |
|
HPO |
|
ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
MIM:201810 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
MIM:119500 ORPHA:1300 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
KIFBP |
kinesin family binding protein |
|
IAGP |
|
HPO |
|
ORPHA:66629 |
NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
|
|
G |
MAMLD1 |
mastermind like domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:456328 ORPHA:95706 |
NCBI chr X:150,361,572...150,514,173
Ensembl chr X:150,361,422...150,514,178
|
|
G |
MID1 |
midline 1 |
|
IAGP |
|
HPO |
|
ORPHA:2745 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
|
|
G |
MTM1 |
myotubularin 1 |
|
IAGP |
|
HPO |
|
ORPHA:456328 |
NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143
|
|
G |
MYRF |
myelin regulatory factor |
|
IAGP |
|
HPO |
|
MIM:618280 |
NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
PLAG1 |
PLAG1 zinc finger |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
MIM:201750 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
SALL1 |
spalt like transcription factor 1 |
|
IAGP |
|
HPO |
|
MIM:107480 ORPHA:857 |
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
|
|
G |
SEMA3E |
semaphorin 3E |
|
IAGP |
|
HPO |
|
ORPHA:138 |
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
MIM:278850 MIM:616425 ORPHA:2138 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SPTBN1 |
spectrin beta, non-erythrocytic 1 |
|
IAGP |
|
HPO |
|
MIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
|
|
G |
SRD5A2 |
steroid 5 alpha-reductase 2 |
|
IAGP |
|
HPO |
|
MIM:264600 ORPHA:753 |
NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 ORPHA:2138 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
UPB1 |
beta-ureidopropionase 1 |
|
IAGP |
|
HPO |
|
MIM:613161 |
NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
MIM:235730 ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
|
G |
ABCC8 |
ATP binding cassette subfamily C member 8 |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
|
|
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
|
|
G |
ALX4 |
ALX homeobox 4 |
|
IAGP |
|
HPO |
|
MIM:613451 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
|
|
G |
AMH |
anti-Mullerian hormone |
|
IAGP |
|
HPO |
|
MIM:261550 |
NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073
|
|
G |
AMHR2 |
anti-Mullerian hormone receptor type 2 |
|
IAGP |
|
HPO |
|
MIM:261550 |
NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
ORPHA:90797 ORPHA:99429 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
ASH1L |
ASH1 like histone lysine methyltransferase |
|
IAGP |
|
HPO |
|
MIM:617796 |
NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
|
|
G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
|
IAGP |
|
HPO |
|
MIM:617403 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
|
|
G |
ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
|
IAGP |
|
HPO |
|
MIM:617402 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
|
|
G |
C2CD3 |
C2 domain containing 3 centriole elongation regulator |
|
IAGP |
|
HPO |
|
ORPHA:434179 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
MIM:211380 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
COLEC10 |
collectin subfamily member 10 |
|
IAGP |
|
HPO |
|
ORPHA:293843 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
|
|
G |
COLEC11 |
collectin subfamily member 11 |
|
IAGP |
|
HPO |
|
ORPHA:293843 |
NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
|
|
G |
CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
|
|
G |
CREBBP |
CREB binding protein |
|
IAGP |
|
HPO |
|
MIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:90793 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
|
|
G |
DNAJC19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
IAGP |
|
HPO |
|
ORPHA:66634 |
NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
|
|
G |
EP300 |
E1A binding protein p300 |
|
IAGP |
|
HPO |
|
MIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
|
|
G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
IAGP |
|
HPO |
|
MIM:278800 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
|
|
G |
FAM149B1 |
family with sequence similarity 149 member B1 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
|
|
G |
FARS2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
|
IAGP |
|
HPO |
|
ORPHA:466722 |
NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192
|
|
G |
FDFT1 |
farnesyl-diphosphate farnesyltransferase 1 |
|
IAGP |
|
HPO |
|
MIM:618156 |
NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395
|
|
G |
FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
|
IAGP |
|
HPO |
|
MIM:305400 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
|
|
G |
GTF2H5 |
general transcription factor IIH subunit 5 |
|
IAGP |
|
HPO |
|
MIM:616395 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
|
|
G |
IFT172 |
intraflagellar transport 172 |
|
IAGP |
|
HPO |
|
MIM:619471 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
|
|
G |
IGBP1 |
immunoglobulin binding protein 1 |
|
IAGP |
|
HPO |
|
MIM:300472 |
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
|
|
G |
INSL3 |
insulin like 3 |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:25741868 |
|
NCBI chr19:17,816,512...17,821,519
Ensembl chr19:17,816,512...17,821,574
|
|
G |
KAT6A |
lysine acetyltransferase 6A |
|
IAGP |
|
HPO |
|
MIM:616268 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
|
|
G |
KIAA0753 |
KIAA0753 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
|
|
G |
KIF7 |
kinesin family member 7 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
|
|
G |
KISS1R |
KISS1 receptor |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:15598687 PMID:25741868 PMID:28492532 PMID:29452377 |
|
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
|
|
G |
KLHL15 |
kelch like family member 15 |
|
IAGP |
|
HPO |
|
MIM:300982 |
NCBI chr X:23,983,720...24,027,186
Ensembl chr X:23,983,716...24,027,186
|
|
G |
LSS |
lanosterol synthase |
|
IAGP |
|
HPO |
|
MIM:618840 |
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
|
|
G |
MASP1 |
MBL associated serine protease 1 |
|
IAGP |
|
HPO |
|
ORPHA:293843 |
NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
|
|
G |
MCM5 |
minichromosome maintenance complex component 5 |
|
IAGP |
|
HPO |
|
MIM:617564 |
NCBI chr22:35,400,140...35,455,031
Ensembl chr22:35,400,134...35,425,431
|
|
G |
MEGF8 |
multiple EGF like domains 8 |
|
IAGP |
|
HPO |
|
MIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
|
|
G |
MRAP |
melanocortin 2 receptor accessory protein |
|
IAGP |
|
HPO |
|
MIM:607398 |
NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784
|
|
G |
NFIX |
nuclear factor I X |
|
IAGP |
|
HPO |
|
MIM:602535 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
|
|
G |
NONO |
non-POU domain containing octamer binding |
|
IAGP |
|
HPO |
|
ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
|
|
G |
ODC1 |
ornithine decarboxylase 1 |
|
IAGP |
|
HPO |
|
ORPHA:544488 |
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
|
|
G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
|
|
G |
PAICS |
phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase |
|
IAGP |
|
HPO |
|
MIM:619859 |
NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578
|
|
G |
PDE6D |
phosphodiesterase 6D |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
|
|
G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
|
|
G |
POLE |
DNA polymerase epsilon, catalytic subunit |
|
IAGP |
|
HPO |
|
MIM:618336 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
|
|
G |
POLR1A |
RNA polymerase I subunit A |
|
IAGP |
|
HPO |
|
MIM:616462 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
|
|
G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
|
IAGP |
|
HPO |
|
MIM:263650 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
|
|
G |
RPL10 |
ribosomal protein L10 |
|
IAGP |
|
HPO |
|
MIM:300998 |
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
|
|
G |
RXFP2 |
relaxin family peptide receptor 2 |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:25741868 |
|
NCBI chr13:31,739,526...31,803,389
Ensembl chr13:31,739,526...31,803,389
|
|
G |
RYR1 |
ryanodine receptor 1 |
|
IAGP |
|
HPO |
|
MIM:619542 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
|
|
G |
SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
|
IAGP |
|
HPO |
|
MIM:242900 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
TMEM216 |
transmembrane protein 216 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
|
|
G |
TMEM231 |
transmembrane protein 231 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
|
|
G |
TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
|
|
G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
IAGP |
|
HPO |
|
MIM:617746 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
|
|
G |
VPS50 |
VPS50 subunit of EARP/GARPII complex |
|
IAGP |
|
HPO |
|
MIM:619685 |
NCBI chr 7:93,232,366...93,361,123
Ensembl chr 7:93,232,340...93,361,123
|
|
G |
WDR37 |
WD repeat domain 37 |
|
IAGP |
|
HPO |
|
MIM:618652 |
NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991
|
|
G |
ZBTB20 |
zinc finger and BTB domain containing 20 |
|
IAGP |
|
HPO |
|
MIM:259050 ORPHA:3042 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
|
|
|
G |
BBS2 |
Bardet-Biedl syndrome 2 |
|
IAGP |
|
HPO |
|
MIM:615981 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
|
|
G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
MIM:618891 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
|
|
G |
CDC42BPB |
CDC42 binding protein kinase beta |
|
IAGP |
|
HPO |
|
MIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
MIM:309801 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
IAGP |
|
HPO |
|
ORPHA:268261 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
|
|
G |
EIF4A2 |
eukaryotic translation initiation factor 4A2 |
|
IAGP |
|
HPO |
|
MIM:620455 |
NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
MIM:166250 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
MIM:309801 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
HOXA13 |
homeobox A13 |
|
IAGP |
|
HPO |
|
MIM:140000 |
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
|
|
G |
KDM1A |
lysine demethylase 1A |
|
IAGP |
|
HPO |
|
MIM:616728 ORPHA:477993 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
IAGP |
|
HPO |
|
MIM:613762 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
|
|
G |
MYH3 |
myosin heavy chain 3 |
|
IAGP |
|
HPO |
|
MIM:193700 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
MIM:309801 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
MIM:201750 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
PPP1R12A |
protein phosphatase 1 regulatory subunit 12A |
|
IAGP |
|
HPO |
|
MIM:618820 |
NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460
|
|
G |
PSMD12 |
proteasome 26S subunit, non-ATPase 12 |
|
IAGP |
|
HPO |
|
MIM:617516 |
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
|
|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
IAGP |
|
HPO |
|
MIM:151050 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
|
|
G |
RERE |
arginine-glutamic acid dipeptide repeats |
|
IAGP |
|
HPO |
|
MIM:616975 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
G |
ZMYM2 |
zinc finger MYM-type containing 2 |
|
IAGP |
|
HPO |
|
MIM:619522 |
NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
|
|
G |
ZNF699 |
zinc finger protein 699 |
|
IAGP |
|
HPO |
|
MIM:619488 |
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
|
|
|
G |
LYN |
LYN proto-oncogene, Src family tyrosine kinase |
|
IAGP |
|
HPO |
|
MIM:620376 |
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
|
|
|
G |
FMR1 |
fragile X messenger ribonucleoprotein 1 |
|
IAGP |
|
HPO |
|
MIM:300624 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
|
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
MIM:149730 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
NIPBL |
NIPBL cohesin loading factor |
|
IAGP |
|
HPO |
|
MIM:122470 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
|
|
G |
PAICS |
phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase |
|
IAGP |
|
HPO |
|
MIM:619859 |
NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578
|
|
G |
TBX22 |
T-box transcription factor 22 |
|
IAGP |
|
HPO |
|
ORPHA:921 |
NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774
|
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
MIM:615542 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
|
G |
AARS1 |
alanyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
|
|
G |
ABCB7 |
ATP binding cassette subfamily B member 7 |
|
IAGP |
|
HPO |
|
MIM:301310 ORPHA:2802 |
NCBI chr X:75,051,048...75,156,283
Ensembl chr X:75,051,048...75,156,732
|
|
G |
ABCD4 |
ATP binding cassette subfamily D member 4 |
|
IAGP |
|
HPO |
|
MIM:614857 |
NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055
|
|
G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
MIM:617602 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
|
|
G |
ACBD6 |
acyl-CoA binding domain containing 6 |
|
IAGP |
|
HPO |
|
MIM:620785 |
NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954
|
|
G |
ACTA2 |
actin alpha 2, smooth muscle |
|
IAGP |
|
HPO |
|
MIM:613834 |
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
|
|
G |
ACTB |
actin beta |
|
IAGP |
|
HPO |
|
MIM:243310 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
|
|
G |
ACTG2 |
actin gamma 2, smooth muscle |
|
IAGP |
|
HPO |
|
ORPHA:2241 |
NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
|
|
G |
ADAMTS15 |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
|
IAGP |
|
HPO |
|
MIM:620545 |
NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
|
|
G |
ADAT3 |
adenosine deaminase tRNA specific 3 |
|
IAGP |
|
HPO |
|
ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
|
|
G |
ADNP |
activity dependent neuroprotector homeobox |
|
IAGP |
|
HPO |
|
MIM:615873 ORPHA:404448 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
|
|
G |
AEBP1 |
AE binding protein 1 |
|
IAGP |
|
HPO |
|
MIM:618000 ORPHA:536532 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
|
|
G |
AFF4 |
ALF transcription elongation factor 4 |
|
IAGP |
|
HPO |
|
MIM:616368 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
|
|
G |
AKR1C2 |
aldo-keto reductase family 1 member C2 |
|
IAGP |
|
HPO |
|
MIM:614279 |
NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031
|
|
G |
AKR1C4 |
aldo-keto reductase family 1 member C4 |
|
IAGP |
|
HPO |
|
MIM:614279 |
NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
|
|
G |
ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
|
IAGP |
|
HPO |
|
MIM:219150 |
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
|
|
G |
ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
|
IAGP |
|
HPO |
|
MIM:620025 |
NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866
|
|
G |
ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
|
IAGP |
|
HPO |
|
MIM:607143 ORPHA:79324 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
|
|
G |
ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
|
IAGP |
|
HPO |
|
MIM:608104 |
NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
|
|
G |
ALK |
ALK receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
ORPHA:626 |
NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
|
|
G |
ALKBH8 |
alkB homolog 8, tRNA methyltransferase |
|
IAGP |
|
HPO |
|
MIM:618504 |
NCBI chr11:107,502,727...107,565,735
Ensembl chr11:107,502,727...107,565,742
|
|
G |
ALX4 |
ALX homeobox 4 |
|
IAGP |
|
HPO |
|
ORPHA:228390 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
|
|
G |
AMH |
anti-Mullerian hormone |
|
IAGP |
|
HPO |
|
ORPHA:2856 |
NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073
|
|
G |
AMHR2 |
anti-Mullerian hormone receptor type 2 |
|
IAGP |
|
HPO |
|
ORPHA:2856 |
NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672
|
|
G |
ANAPC1 |
anaphase promoting complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
|
|
G |
ANK1 |
ankyrin 1 |
|
IAGP |
|
HPO |
|
ORPHA:251066 |
NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
|
|
G |
ANKLE2 |
ankyrin repeat and LEM domain containing 2 |
|
IAGP |
|
HPO |
|
MIM:616681 |
NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
|
|
G |
ANKRD11 |
ankyrin repeat domain containing 11 |
|
IAGP |
DNA:deletions, SNPs:CDS:multiple |
HPO RGD |
PMID:21782149 |
MIM:148050 ORPHA:2332 ORPHA:261250, RGD:11068938 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561
|
|
G |
ANOS1 |
anosmin 1 |
|
IAGP |
|
HPO |
|
MIM:308700 ORPHA:478 |
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
|
|
G |
AP1S2 |
adaptor related protein complex 1 subunit sigma 2 |
|
IAGP |
|
HPO |
|
ORPHA:1568 |
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
|
|
G |
APC2 |
APC regulator of WNT signaling pathway 2 |
|
IAGP |
|
HPO |
|
ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
MIM:312300 ORPHA:95706 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
ARCN1 |
archain 1 |
|
IAGP |
|
HPO |
|
MIM:617164 |
NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
|
|
G |
ARID1A |
AT-rich interaction domain 1A |
|
IAGP |
|
HPO |
|
MIM:614607 ORPHA:1465 |
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
|
|
G |
ARID1B |
AT-rich interaction domain 1B |
|
IAGP |
|
HPO |
|
MIM:135900 ORPHA:1465 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
|
|
G |
ARID2 |
AT-rich interaction domain 2 |
|
IAGP |
|
HPO |
|
ORPHA:1465 |
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
|
|
G |
ARL6 |
ARF like GTPase 6 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
|
|
G |
ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
|
IAGP |
|
HPO |
|
MIM:615926 ORPHA:3157 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
|
|
G |
ARVCF |
ARVCF delta catenin family member |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
|
|
G |
ARX |
aristaless related homeobox |
|
IAGP |
|
HPO |
|
MIM:300004 ORPHA:452 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
|
|
G |
ASH1L |
ASH1 like histone lysine methyltransferase |
|
IAGP |
|
HPO |
|
MIM:617796 |
NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
|
|
G |
ASXL3 |
ASXL transcriptional regulator 3 |
|
IAGP |
|
HPO |
|
MIM:615485 |
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
|
|
G |
ATAD3A |
ATPase family AAA domain containing 3A |
|
IAGP |
|
HPO |
|
ORPHA:496790 |
NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
|
|
G |
ATN1 |
atrophin 1 |
|
IAGP |
|
HPO |
|
MIM:618494 |
NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
|
|
G |
ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
|
IAGP |
|
HPO |
|
MIM:278250 ORPHA:2834 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
|
|
G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
|
IAGP |
|
HPO |
|
MIM:617403 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
|
|
G |
ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
|
IAGP |
|
HPO |
|
MIM:617402 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
|
|
G |
ATR |
ATR serine/threonine kinase |
|
IAGP |
|
HPO |
|
MIM:210600 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
|
|
G |
ATRX |
ATRX chromatin remodeler |
|
IAGP |
ClinVar Annotator: match by term: Cryptorchidism |
HPO ClinVar |
PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 PMID:28371217 PMID:28492532 More...
|
MIM:301040 MIM:309580 ORPHA:847 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
|
|
G |
AUTS2 |
activator of transcription and developmental regulator AUTS2 |
|
IAGP |
|
HPO |
|
ORPHA:352490 |
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
|
|
G |
AXL |
AXL receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
MIM:146110 |
NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
|
|
G |
B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
|
|
G |
B3GLCT |
beta 3-glucosyltransferase |
|
IAGP |
|
HPO |
|
MIM:261540 ORPHA:709 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
|
|
G |
B4GALT7 |
beta-1,4-galactosyltransferase 7 |
|
IAGP |
|
HPO |
|
ORPHA:75496 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
|
|
G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
|
|
G |
B9D1 |
B9 domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
|
|
G |
B9D2 |
B9 domain containing 2 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
|
|
G |
BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
|
|
G |
BBIP1 |
BBSome interacting protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
|
|
G |
BBS1 |
Bardet-Biedl syndrome 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
|
|
G |
BBS10 |
Bardet-Biedl syndrome 10 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
|
|
G |
BBS12 |
Bardet-Biedl syndrome 12 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
|
|
G |
BBS2 |
Bardet-Biedl syndrome 2 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
|
|
G |
BBS4 |
Bardet-Biedl syndrome 4 |
|
IAGP |
|
HPO |
|
MIM:615982 ORPHA:110 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
|
|
G |
BBS5 |
Bardet-Biedl syndrome 5 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
|
|
G |
BBS7 |
Bardet-Biedl syndrome 7 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
|
|
G |
BBS9 |
Bardet-Biedl syndrome 9 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
|
|
G |
BCOR |
BCL6 corepressor |
|
IAGP |
|
HPO |
|
MIM:300166 MIM:309800 ORPHA:568 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
|
|
G |
BDNF |
brain derived neurotrophic factor |
|
IAGP |
|
HPO |
|
ORPHA:893 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
|
|
G |
BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
|
IAGP |
|
HPO |
|
MIM:619325 |
NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
|
|
G |
BIN1 |
bridging integrator 1 |
|
IAGP |
|
HPO |
|
ORPHA:169189 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
|
|
G |
BLM |
BLM RecQ like helicase |
|
IAGP |
|
HPO |
|
MIM:210900 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
MIM:607932 ORPHA:139471 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
IAGP |
|
HPO |
|
MIM:163950 ORPHA:1340 ORPHA:500 ORPHA:626 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:654 ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRD4 |
bromodomain containing 4 |
|
IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
|
|
G |
BRF1 |
BRF1 general transcription factor IIIB subunit |
|
IAGP |
|
HPO |
|
MIM:616202 ORPHA:444072 |
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
|
|
G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
BRWD3 |
bromodomain and WD repeat domain containing 3 |
|
IAGP |
|
HPO |
|
MIM:300659 |
NCBI chr X:80,669,503...80,809,877
Ensembl chr X:80,669,503...80,809,877
|
|
G |
BTD |
biotinidase |
|
IAGP |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
|
|
NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311
|
|
G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
IAGP |
|
HPO |
|
MIM:257300 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
|
|
G |
BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
|
|
G |
C2CD3 |
C2 domain containing 3 centriole elongation regulator |
|
IAGP |
|
HPO |
|
MIM:615948 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
|
|
G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
|
IAGP |
|
HPO |
|
MIM:617798 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
|
|
G |
CAMSAP1 |
calmodulin regulated spectrin associated protein 1 |
|
IAGP |
|
HPO |
|
MIM:620316 |
NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546
|
|
G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
|
|
G |
CASZ1 |
castor zinc finger 1 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
|
|
G |
CBL |
Cbl proto-oncogene |
|
IAGP |
|
HPO |
|
MIM:613563 ORPHA:648 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
|
|
G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
|
|
G |
CCBE1 |
collagen and calcium binding EGF domains 1 |
|
IAGP |
|
HPO |
|
MIM:235510 |
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
|
|
G |
CCDC141 |
coiled-coil domain containing 141 |
|
IAGP |
|
HPO |
|
MIM:146110 ORPHA:478 |
NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
|
|
G |
CCDC174 |
coiled-coil domain containing 174 |
|
IAGP |
|
HPO |
|
MIM:616816 |
NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659
|
|
G |
CCDC22 |
coiled-coil domain containing 22 |
|
IAGP |
|
HPO |
|
MIM:300963 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
|
|
G |
CCDC32 |
coiled-coil domain containing 32 |
|
IAGP |
|
HPO |
|
MIM:619123 |
NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
|
|
G |
CD96 |
CD96 molecule |
|
IAGP |
|
HPO |
|
MIM:211750 ORPHA:1308 |
NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996
|
|
G |
CDC42 |
cell division cycle 42 |
|
IAGP |
|
HPO |
|
MIM:616737 |
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
|
|
G |
CDC42BPB |
CDC42 binding protein kinase beta |
|
IAGP |
|
HPO |
|
MIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
MIM:617063 ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDC6 |
cell division cycle 6 |
|
IAGP |
|
HPO |
|
MIM:613805 ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
|
|
G |
CDCA7 |
cell division cycle associated 7 |
|
IAGP |
|
HPO |
|
MIM:616910 |
NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
|
|
G |
CDH2 |
cadherin 2 |
|
IAGP |
|
HPO |
|
MIM:618929 |
NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
|
|
G |
CDK8 |
cyclin dependent kinase 8 |
|
IAGP |
|
HPO |
|
MIM:618748 |
NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
IAGP |
|
HPO |
|
MIM:130650 MIM:614732 ORPHA:397590 ORPHA:85173 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
|
|
G |
CDON |
cell adhesion associated, oncogene regulated |
|
IAGP |
|
HPO |
|
ORPHA:95496 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
IAGP |
|
HPO |
|
MIM:613804 ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
|
|
G |
CEP120 |
centrosomal protein 120 |
|
IAGP |
|
HPO |
|
MIM:616300 |
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
|
|
G |
CEP152 |
centrosomal protein 152 |
|
IAGP |
|
HPO |
|
MIM:613823 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
|
|
G |
CEP19 |
centrosomal protein 19 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
|
|
G |
CEP290 |
centrosomal protein 290 |
|
IAGP |
|
HPO |
|
ORPHA:110 ORPHA:564 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
|
|
G |
CFAP418 |
cilia and flagella associated protein 418 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
|
|
G |
CHD4 |
chromodomain helicase DNA binding protein 4 |
|
IAGP |
|
HPO |
|
MIM:617159 |
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
|
|
G |
CHD6 |
chromodomain helicase DNA binding protein 6 |
|
IAGP |
|
HPO |
|
ORPHA:2108 |
NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
IAGP |
|
HPO |
|
MIM:214800 MIM:612370 ORPHA:138 ORPHA:432 ORPHA:478 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
|
|
G |
CHRM3 |
cholinergic receptor muscarinic 3 |
|
IAGP |
|
HPO |
|
MIM:100100 ORPHA:2970 |
NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
|
|
G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
|
IAGP |
|
HPO |
|
MIM:265000 ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
|
|
G |
CHST14 |
carbohydrate sulfotransferase 14 |
|
IAGP |
DNA:frameshift mutations, missense mutations:CDS:multiple |
HPO RGD |
PMID:26373698 |
MIM:601776 ORPHA:2953, RGD:11061906 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
|
|
G |
CILK1 |
ciliogenesis associated kinase 1 |
|
IAGP |
|
HPO |
|
MIM:612651 |
NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
|
|
G |
CITED2 |
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
|
|
G |
CKAP2L |
cytoskeleton associated protein 2 like |
|
IAGP |
|
HPO |
|
MIM:272440 ORPHA:3255 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
|
|
G |
CLCN3 |
chloride voltage-gated channel 3 |
|
IAGP |
|
HPO |
|
MIM:619512 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
|
|
G |
CLCN4 |
chloride voltage-gated channel 4 |
|
IAGP |
|
HPO |
|
ORPHA:485350 |
NCBI chr X:10,156,975...10,237,660
Ensembl chr X:10,156,975...10,237,660
|
|
G |
CLIP2 |
CAP-Gly domain containing linker protein 2 |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
|
|
G |
CLP1 |
cleavage factor polyribonucleotide kinase subunit 1 |
|
IAGP |
|
HPO |
|
MIM:615803 |
NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865
|
|
G |
COG1 |
component of oligomeric golgi complex 1 |
|
IAGP |
|
HPO |
|
MIM:611209 |
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
|
|
G |
COG5 |
component of oligomeric golgi complex 5 |
|
IAGP |
|
HPO |
|
ORPHA:263487 |
NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261
|
|
G |
COL3A1 |
collagen type III alpha 1 chain |
|
IAGP |
|
HPO |
|
MIM:130050 ORPHA:286 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
|
|
G |
COL4A1 |
collagen type IV alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
|
|
G |
COLEC10 |
collectin subfamily member 10 |
|
IAGP |
|
HPO |
|
MIM:248340 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
|
|
G |
COLEC11 |
collectin subfamily member 11 |
|
IAGP |
|
HPO |
|
MIM:265050 |
NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
|
|
G |
COMT |
catechol-O-methyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
|
|
G |
CPE |
carboxypeptidase E |
|
IAGP |
|
HPO |
|
MIM:619326 |
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
|
|
G |
CPLX1 |
complexin 1 |
|
IAGP |
|
HPO |
|
MIM:194190 ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
|
|
G |
CREBBP |
CREB binding protein |
|
IAGP |
|
HPO |
|
MIM:180849 MIM:618332 ORPHA:353277 ORPHA:353281 ORPHA:592574 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
|
|
G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
|
|
G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
|
|
G |
CTBP1 |
C-terminal binding protein 1 |
|
IAGP |
|
HPO |
|
MIM:194190 ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
|
|
G |
CTCF |
CCCTC-binding factor |
|
IAGP |
|
HPO |
|
MIM:615502 ORPHA:363611 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
|
|
G |
CUL4B |
cullin 4B |
|
IAGP |
|
HPO |
|
MIM:300354 |
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
|
|
G |
CWC27 |
CWC27 spliceosome associated cyclophilin |
|
IAGP |
|
HPO |
|
ORPHA:166035 |
NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412
|
|
G |
CYB5A |
cytochrome b5 type A |
|
IAGP |
|
HPO |
|
ORPHA:90796 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:90796 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
|
|
G |
CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:91 |
NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
|
|
G |
DACT1 |
dishevelled binding antagonist of beta catenin 1 |
|
IAGP |
|
HPO |
|
ORPHA:857 |
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
|
|
G |
DAG1 |
dystroglycan 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
|
|
G |
DAZ1 |
deleted in azoospermia 1 |
|
IAGP |
|
HPO |
|
ORPHA:1646 |
NCBI chr Y:23,129,355...23,199,094
Ensembl chr Y:23,129,355...23,199,010
|
|
G |
DAZ2 |
deleted in azoospermia 2 |
|
IAGP |
|
HPO |
|
ORPHA:1646 |
NCBI chr Y:23,219,457...23,291,356
Ensembl chr Y:23,219,447...23,291,356
|
|
G |
DAZ3 |
deleted in azoospermia 3 |
|
IAGP |
|
HPO |
|
ORPHA:1646 |
NCBI chr Y:24,763,069...24,813,393
Ensembl chr Y:24,763,069...24,813,492
|
|
G |
DAZ4 |
deleted in azoospermia 4 |
|
IAGP |
|
HPO |
|
ORPHA:1646 |
NCBI chr Y:24,833,820...24,907,040
Ensembl chr Y:24,833,843...24,907,040
|
|
G |
DCC |
DCC netrin 1 receptor |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
|
|
G |
DDB2 |
damage specific DNA binding protein 2 |
|
IAGP |
|
HPO |
|
ORPHA:910 |
NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
|
|
G |
DDX3X |
DEAD-box helicase 3 X-linked |
|
IAGP |
|
HPO |
|
ORPHA:3338 |
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
|
|
G |
DDX3Y |
DEAD-box helicase 3 Y-linked |
|
IAGP |
|
HPO |
|
ORPHA:1646 |
NCBI chr Y:12,903,999...12,920,478
Ensembl chr Y:12,904,108...12,920,478
|
|
G |
DDX6 |
DEAD-box helicase 6 |
|
IAGP |
|
HPO |
|
MIM:618653 |
NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
|
|
G |
DEPDC5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
IAGP |
|
HPO |
|
MIM:620504 |
NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
|
|
G |
DGCR2 |
DiGeorge syndrome critical region gene 2 |
|
IAGP |
|
HPO |
|
MIM:192430 |
NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
|
|
G |
DGCR6 |
DiGeorge syndrome critical region gene 6 |
|
IAGP |
|
HPO |
|
MIM:192430 |
NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
|
|
G |
DGCR8 |
DGCR8 microprocessor complex subunit |
|
IAGP |
|
HPO |
|
MIM:192430 |
NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877
|
|
G |
DHCR7 |
7-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
MIM:270400 ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
|
|
G |
DHDDS |
dehydrodolichyl diphosphate synthase subunit |
|
IAGP |
|
HPO |
|
MIM:613861 |
NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
|
|
G |
DHODH |
dihydroorotate dehydrogenase (quinone) |
|
IAGP |
|
HPO |
|
MIM:263750 |
NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
|
IAGP |
|
HPO |
|
MIM:267000 ORPHA:2849 ORPHA:654 |
NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
|
|
G |
DKC1 |
dyskerin pseudouridine synthase 1 |
|
IAGP |
|
HPO |
|
MIM:305000 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
|
|
G |
DLK1 |
delta like non-canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:96184 ORPHA:96334 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
|
|
G |
DLL3 |
delta like canonical Notch ligand 3 |
|
IAGP |
|
HPO |
|
ORPHA:2311 |
NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
|
|
G |
DLX4 |
distal-less homeobox 4 |
|
IAGP |
|
HPO |
|
MIM:616788 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
|
|
G |
DNA2 |
DNA replication helicase/nuclease 2 |
|
IAGP |
|
HPO |
|
MIM:620819 |
NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
|
|
G |
DNAJC19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
IAGP |
|
HPO |
|
MIM:610198 |
NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
|
|
G |
DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
|
IAGP |
|
HPO |
|
MIM:617052 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
|
|
G |
DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
|
|
G |
DNM2 |
dynamin 2 |
|
IAGP |
|
HPO |
|
ORPHA:169189 |
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
|
|
G |
DNMT3A |
DNA methyltransferase 3 alpha |
|
IAGP |
|
HPO |
|
ORPHA:404443 |
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
|
|
G |
DOK7 |
docking protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:994 |
NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
|
|
G |
DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
IAGP |
|
HPO |
|
MIM:608093 |
NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
|
|
G |
DPF2 |
double PHD fingers 2 |
|
IAGP |
|
HPO |
|
ORPHA:1465 |
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
|
|
G |
DPP9 |
dipeptidyl peptidase 9 |
|
IAGP |
|
HPO |
|
MIM:620331 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
|
|
G |
DPYSL5 |
dihydropyrimidinase like 5 |
|
IAGP |
|
HPO |
|
MIM:619435 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
|
|
G |
DSE |
dermatan sulfate epimerase |
|
IAGP |
|
HPO |
|
ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
|
|
G |
DTYMK |
deoxythymidylate kinase |
|
IAGP |
|
HPO |
|
MIM:619847 |
NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944
|
|
G |
DUSP6 |
dual specificity phosphatase 6 |
|
IAGP |
|
HPO |
|
MIM:146110 ORPHA:432 ORPHA:478 |
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
MIM:180700 MIM:616331 ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DVL3 |
dishevelled segment polarity protein 3 |
|
IAGP |
|
HPO |
|
MIM:616894 ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
|
|
G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
|
IAGP |
|
HPO |
|
ORPHA:93271 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
|
|
G |
DYNC2I1 |
dynein 2 intermediate chain 1 |
|
IAGP |
|
HPO |
|
ORPHA:93271 |
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
|
|
G |
DYNC2I2 |
dynein 2 intermediate chain 2 |
|
IAGP |
|
HPO |
|
MIM:615633 ORPHA:93271 |
NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
|
|
G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
IAGP |
|
HPO |
|
ORPHA:289 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
|
|
G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
IAGP |
|
HPO |
|
ORPHA:268261 ORPHA:464311 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
|
|
G |
EBF3 |
EBF transcription factor 3 |
|
IAGP |
|
HPO |
|
MIM:617330 |
NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053
|
|
G |
EBP |
EBP cholestenol delta-isomerase |
|
IAGP |
|
HPO |
|
MIM:300960 ORPHA:401973 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
|
|
G |
EED |
embryonic ectoderm development |
|
IAGP |
|
HPO |
|
MIM:617561 |
NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807
|
|
G |
EFNB1 |
ephrin B1 |
|
IAGP |
|
HPO |
|
MIM:304110 |
NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160
|
|
G |
EHMT1 |
euchromatic histone lysine methyltransferase 1 |
|
IAGP |
|
HPO |
|
MIM:610253 ORPHA:96147 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
|
|
G |
EIF2S3 |
eukaryotic translation initiation factor 2 subunit gamma |
|
IAGP |
|
HPO |
|
ORPHA:85282 |
NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810
|
|
G |
EIF4H |
eukaryotic translation initiation factor 4H |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
|
|
G |
EIF5A |
eukaryotic translation initiation factor 5A |
|
IAGP |
|
HPO |
|
MIM:619376 |
NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
|
|
G |
ELN |
elastin |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
|
|
G |
EMG1 |
EMG1 N1-specific pseudouridine methyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:1270 |
NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936
|
|
G |
EP300 |
E1A binding protein p300 |
|
IAGP |
|
HPO |
|
MIM:180849 ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
|
|
G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:90322 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
|
|
G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
IAGP |
|
HPO |
|
ORPHA:33364 ORPHA:910 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
|
|
G |
ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
|
IAGP |
|
HPO |
|
ORPHA:33364 ORPHA:910 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 ORPHA:90321 ORPHA:910 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
ERCC5 |
ERCC excision repair 5, endonuclease |
|
IAGP |
|
HPO |
|
ORPHA:910 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
|
|
G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
IAGP |
|
HPO |
|
MIM:133540 MIM:214150 ORPHA:90321 ORPHA:90322 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
|
|
G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
IAGP |
|
HPO |
|
MIM:216400 ORPHA:90321 ORPHA:90322 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
|
|
G |
ESAM |
endothelial cell adhesion molecule |
|
IAGP |
|
HPO |
|
MIM:620371 |
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
|
|
G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
|
IAGP |
|
HPO |
|
MIM:268300 ORPHA:3103 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
|
|
G |
ESS2 |
ess-2 splicing factor homolog |
|
IAGP |
|
HPO |
|
MIM:192430 |
NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
|
|
G |
EVC |
EvC ciliary complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:225500 ORPHA:289 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
|
|
G |
EVC2 |
EvC ciliary complex subunit 2 |
|
IAGP |
|
HPO |
|
MIM:225500 ORPHA:289 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
|
|
G |
EXT2 |
exostosin glycosyltransferase 2 |
|
IAGP |
|
HPO |
|
MIM:616682 ORPHA:466926 |
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
|
|
G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
IAGP |
|
HPO |
|
MIM:277590 ORPHA:3447 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
MIM:227650 ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:3412 ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
MIM:227645 ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
MIM:227646 ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
MIM:600901 ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
MIM:603467 ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
FAT4 |
FAT atypical cadherin 4 |
|
IAGP |
|
HPO |
|
MIM:615546 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
|
|
G |
FBLN1 |
fibulin 1 |
|
IAGP |
|
HPO |
|
ORPHA:404451 |
NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135
|
|
G |
FBN1 |
fibrillin 1 |
|
IAGP |
|
HPO |
|
ORPHA:2462 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
|
|
G |
FBXL4 |
F-box and leucine rich repeat protein 4 |
|
IAGP |
|
HPO |
|
MIM:615471 |
NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006
|
|
G |
FBXO11 |
F-box protein 11 |
|
IAGP |
|
HPO |
|
MIM:618089 |
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
|
|
G |
FBXW7 |
F-box and WD repeat domain containing 7 |
|
IAGP |
|
HPO |
|
MIM:620012 |
NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
|
|
G |
FEZF1 |
FEZ family zinc finger 1 |
|
IAGP |
|
HPO |
|
MIM:146110 MIM:616030 ORPHA:478 |
NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
|
|
G |
FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
|
IAGP |
|
HPO |
|
MIM:305400 ORPHA:915 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
|
|
G |
FGF10 |
fibroblast growth factor 10 |
|
IAGP |
|
HPO |
|
ORPHA:2363 |
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
|
|
G |
FGF17 |
fibroblast growth factor 17 |
|
IAGP |
|
HPO |
|
MIM:146110 ORPHA:432 ORPHA:478 |
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
IAGP |
|
HPO |
|
MIM:612702 ORPHA:432 ORPHA:478 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
MIM:147950 MIM:166250 MIM:613001 MIM:615465 ORPHA:2645 ORPHA:3157 ORPHA:432 ORPHA:478 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
MIM:101200 ORPHA:1555 ORPHA:2363 ORPHA:794 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
IAGP |
|
HPO |
|
ORPHA:2363 ORPHA:794 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
|
|
G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
|
IAGP |
|
HPO |
|
MIM:194190 |
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
|
|
G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
|
IAGP |
|
HPO |
|
MIM:216340 ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
|
|
G |
FILIP1 |
filamin A interacting protein 1 |
|
IAGP |
|
HPO |
|
MIM:620775 |
NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800
|
|
G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
|
IAGP |
|
HPO |
|
MIM:620103 ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
|
|
G |
FKRP |
fukutin related protein |
|
IAGP |
|
HPO |
|
MIM:236670 ORPHA:370968 ORPHA:899 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
|
|
G |
FKTN |
fukutin |
|
IAGP |
|
HPO |
|
MIM:236670 ORPHA:899 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
|
|
G |
FLG |
filaggrin |
|
IAGP |
|
HPO |
|
ORPHA:461 |
NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239
|
|
G |
FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:2308 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
|
|
G |
FLNA |
filamin A |
|
IAGP |
|
HPO |
|
MIM:304120 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
|
|
G |
FLNB |
filamin B |
|
IAGP |
|
HPO |
|
MIM:108720 MIM:150250 ORPHA:1263 ORPHA:503 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
|
|
G |
FLRT3 |
fibronectin leucine rich transmembrane protein 3 |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
|
|
G |
FLT4 |
fms related receptor tyrosine kinase 4 |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
|
|
G |
FMR1 |
fragile X messenger ribonucleoprotein 1 |
|
IAGP |
|
HPO |
|
ORPHA:261483 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
|
|
G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:219000 ORPHA:2052 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
|
|
G |
FREM2 |
FRAS1 related extracellular matrix 2 |
|
IAGP |
|
HPO |
|
ORPHA:2052 |
NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
|
|
G |
FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
|
IAGP |
|
HPO |
|
MIM:612938 |
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
|
|
G |
FUZ |
fuzzy planar cell polarity protein |
|
IAGP |
|
HPO |
|
ORPHA:3027 |
NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
|
|
G |
FXR1 |
FMR1 autosomal homolog 1 |
|
IAGP |
|
HPO |
|
MIM:618822 MIM:618823 |
NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
MIM:164745 ORPHA:3107 ORPHA:93328 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
G6PC3 |
glucose-6-phosphatase catalytic subunit 3 |
|
IAGP |
|
HPO |
|
MIM:612541 |
NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
|
|
G |
GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
|
|
G |
GALT |
galactose-1-phosphate uridylyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:79239 |
NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035
|
|
G |
GATA1 |
GATA binding protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:67044 |
NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
MIM:615542 ORPHA:251071 ORPHA:251510 ORPHA:3303 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
G |
GATA5 |
GATA binding protein 5 |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
|
|
G |
GATA6 |
GATA binding protein 6 |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
|
|
G |
GDF1 |
growth differentiation factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
|
|
G |
GFM2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
|
IAGP |
|
HPO |
|
ORPHA:565624 |
NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147
|
|
G |
GJA5 |
gap junction protein alpha 5 |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
G |
GK |
glycerol kinase |
|
IAGP |
|
HPO |
|
MIM:307030 |
NCBI chr X:30,653,423...30,731,462
Ensembl chr X:30,653,359...30,731,462
|
|
G |
GLE1 |
GLE1 RNA export mediator |
|
IAGP |
|
HPO |
|
MIM:611890 |
NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
|
|
G |
GLI1 |
GLI family zinc finger 1 |
|
IAGP |
|
HPO |
|
ORPHA:289 |
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
IAGP |
|
HPO |
|
MIM:610829 MIM:615849 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
|
|
G |
GLI3 |
GLI family zinc finger 3 |
|
IAGP |
|
HPO |
|
MIM:146510 MIM:175700 ORPHA:36 ORPHA:672 ORPHA:93322 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
|
|
G |
GMNN |
geminin DNA replication inhibitor |
|
IAGP |
|
HPO |
|
MIM:616835 ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
|
|
G |
GMPPB |
GDP-mannose pyrophosphorylase B |
|
IAGP |
|
HPO |
|
ORPHA:370968 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
|
|
G |
GNB2 |
G protein subunit beta 2 |
|
IAGP |
|
HPO |
|
MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
|
|
G |
GNRH1 |
gonadotropin releasing hormone 1 |
|
IAGP |
|
HPO |
|
MIM:146110 MIM:614841 ORPHA:432 |
NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
|
|
G |
GNRHR |
gonadotropin releasing hormone receptor |
|
IAGP |
|
HPO |
|
MIM:146110 ORPHA:432 |
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
|
|
G |
GP1BB |
glycoprotein Ib platelet subunit beta |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
|
|
G |
GPC3 |
glypican 3 |
|
IAGP |
|
HPO |
|
MIM:312870 ORPHA:373 ORPHA:654 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
|
|
G |
GPC4 |
glypican 4 |
|
IAGP |
|
HPO |
|
MIM:312870 ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
|
|
G |
GPC6 |
glypican 6 |
|
IAGP |
|
HPO |
|
MIM:258315 ORPHA:93329 |
NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
|
|
G |
GPR161 |
G protein-coupled receptor 161 |
|
IAGP |
|
HPO |
|
ORPHA:95496 |
NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667
|
|
G |
GRB10 |
growth factor receptor bound protein 10 |
|
IAGP |
|
HPO |
|
ORPHA:96182 |
NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
|
|
G |
GRIA2 |
glutamate ionotropic receptor AMPA type subunit 2 |
|
IAGP |
|
HPO |
|
MIM:618917 |
NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146
|
|
G |
GRIA3 |
glutamate ionotropic receptor AMPA type subunit 3 |
|
IAGP |
|
HPO |
|
ORPHA:364028 |
NCBI chr X:123,184,278...123,490,915
Ensembl chr X:123,184,153...123,490,915
|
|
G |
GRIN2B |
glutamate ionotropic receptor NMDA type subunit 2B |
|
IAGP |
|
HPO |
|
MIM:613970 |
NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
|
|
G |
GRIP1 |
glutamate receptor interacting protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:2052 |
NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
|
|
G |
GSC |
goosecoid homeobox |
|
IAGP |
|
HPO |
|
MIM:602471 |
NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113
|
|
G |
GTF2E2 |
general transcription factor IIE subunit 2 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
|
|
G |
GTF2H5 |
general transcription factor IIH subunit 5 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
|
|
G |
GTF2I |
general transcription factor IIi |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
|
|
G |
GTF2IRD1 |
GTF2I repeat domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
|
|
G |
GTF2IRD2 |
GTF2I repeat domain containing 2 |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
|
|
G |
H1-4 |
H1.4 linker histone, cluster member |
|
IAGP |
|
HPO |
|
MIM:617537 |
NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115
|
|
G |
H19 |
H19 imprinted maternally expressed transcript |
|
IAGP |
|
HPO |
|
ORPHA:2128 ORPHA:654 |
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
|
|
G |
H19-ICR |
H19/IGF2 imprinting control region |
|
IAGP |
|
HPO |
|
MIM:130650 |
NCBI chr11:1,998,202...2,003,509
|
|
G |
H4C9 |
H4 clustered histone 9 |
|
IAGP |
|
HPO |
|
MIM:619951 |
NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640
|
|
G |
HBA1 |
hemoglobin subunit alpha 1 |
|
IAGP |
|
HPO |
|
ORPHA:98791 |
NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
|
|
G |
HBA2 |
hemoglobin subunit alpha 2 |
|
IAGP |
|
HPO |
|
ORPHA:98791 |
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
|
|
G |
HDAC4 |
histone deacetylase 4 |
|
IAGP |
|
HPO |
|
MIM:619797 |
NCBI chr 2:239,048,168...239,401,649 NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654
|
|
G |
HDAC8 |
histone deacetylase 8 |
|
IAGP |
|
HPO |
|
MIM:300882 ORPHA:199 ORPHA:3459 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
|
|
G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
|
|
G |
HES7 |
hes family bHLH transcription factor 7 |
|
IAGP |
|
HPO |
|
ORPHA:2311 |
NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
|
|
G |
HESX1 |
HESX homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:3157 ORPHA:478 ORPHA:95496 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
|
|
G |
HIBCH |
3-hydroxyisobutyryl-CoA hydrolase |
|
IAGP |
|
HPO |
|
ORPHA:88639 |
NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193
|
|
G |
HIRA |
histone cell cycle regulator |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
|
|
G |
HNF1B |
HNF1 homeobox B |
|
IAGP |
|
HPO |
|
ORPHA:261265 |
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
|
|
G |
HNRNPH1 |
heterogeneous nuclear ribonucleoprotein H1 |
|
IAGP |
|
HPO |
|
MIM:620083 |
NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784
|
|
G |
HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
|
IAGP |
|
HPO |
|
MIM:616580 ORPHA:352665 ORPHA:453504 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
|
|
G |
HNRNPR |
heterogeneous nuclear ribonucleoprotein R |
|
IAGP |
|
HPO |
|
MIM:620073 |
NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336
|
|
G |
HOXD13 |
homeobox D13 |
|
IAGP |
|
HPO |
|
ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
|
|
G |
HPSE2 |
heparanase 2 (inactive) |
|
IAGP |
|
HPO |
|
MIM:236730 ORPHA:2704 |
NCBI chr10:98,457,077...99,315,951
Ensembl chr10:98,457,077...99,235,862
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
ORPHA:2874 ORPHA:3071 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
|
|
G |
HS2ST1 |
heparan sulfate 2-O-sulfotransferase 1 |
|
IAGP |
|
HPO |
|
MIM:619194 |
NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
|
|
G |
HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
|
IAGP |
|
HPO |
|
MIM:614880 ORPHA:432 ORPHA:478 |
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
|
|
G |
HSD17B3 |
hydroxysteroid 17-beta dehydrogenase 3 |
|
IAGP |
|
HPO |
|
ORPHA:752 |
NCBI chr 9:96,235,306...96,302,176
Ensembl chr 9:96,235,306...96,302,176
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
MIM:201810 ORPHA:90791 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
IAGP |
|
HPO |
|
MIM:224410 ORPHA:1606 ORPHA:1865 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
|
|
G |
HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
IAGP |
|
HPO |
|
MIM:309590 |
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
|
|
G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
|
IAGP |
|
HPO |
|
ORPHA:2189 |
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
|
|
G |
HYMAI |
hydatidiform mole associated and imprinted |
|
IAGP |
|
HPO |
|
ORPHA:96191 |
NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
|
|
G |
IER3IP1 |
immediate early response 3 interacting protein 1 |
|
IAGP |
|
HPO |
|
MIM:614231 |
NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364
|
|
G |
IFT172 |
intraflagellar transport 172 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
|
|
G |
IFT27 |
intraflagellar transport 27 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
|
|
G |
IFT74 |
intraflagellar transport 74 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
|
|
G |
IFT80 |
intraflagellar transport 80 |
|
IAGP |
|
HPO |
|
ORPHA:93271 |
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
MIM:130650 ORPHA:2128 ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
IL17RD |
interleukin 17 receptor D |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
|
|
G |
INPPL1 |
inositol polyphosphate phosphatase like 1 |
|
IAGP |
|
HPO |
|
ORPHA:3144 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
|
|
G |
INSL3 |
insulin like 3 |
|
IAGP |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar HPO |
PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:25741868 |
MIM:219050 |
NCBI chr19:17,816,512...17,821,519
Ensembl chr19:17,816,512...17,821,574
|
|
G |
IPW |
imprinted in Prader-Willi syndrome |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:25,116,545...25,122,476
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
MIM:119500 ORPHA:1300 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
IRX5 |
iroquois homeobox 5 |
|
IAGP |
|
HPO |
|
MIM:611174 |
NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
|
|
G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
|
IAGP |
|
HPO |
|
MIM:117360 |
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
|
|
G |
JAG1 |
jagged canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
|
|
G |
JAM3 |
junctional adhesion molecule 3 |
|
IAGP |
|
HPO |
|
MIM:613730 |
NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001
|
|
G |
JMJD1C |
jumonji domain containing 1C |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
|
|
G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:610443 ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
|
|
G |
KAT5 |
lysine acetyltransferase 5 |
|
IAGP |
|
HPO |
|
MIM:619103 |
NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
|
|
G |
KAT6A |
lysine acetyltransferase 6A |
|
IAGP |
|
HPO |
|
ORPHA:457193 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
|
|
G |
KAT6B |
lysine acetyltransferase 6B |
|
IAGP |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar HPO |
PMID:25741868 |
MIM:603736 MIM:606170 ORPHA:3047 ORPHA:85201 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
|
|
G |
KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
|
|
G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
IAGP |
|
HPO |
|
MIM:130650 |
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
|
|
G |
KCNQ1OT1 |
KCNQ1 opposite strand/antisense transcript 1 |
|
IAGP |
|
HPO |
|
MIM:130650 ORPHA:2128 |
NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
|
|
G |
KDM1A |
lysine demethylase 1A |
|
IAGP |
|
HPO |
|
MIM:616728 ORPHA:477993 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
|
|
G |
KDM3B |
lysine demethylase 3B |
|
IAGP |
|
HPO |
|
MIM:618846 |
NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028
|
|
G |
KDM5B |
lysine demethylase 5B |
|
IAGP |
|
HPO |
|
MIM:618109 |
NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
|
|
G |
KDM5C |
lysine demethylase 5C |
|
IAGP |
|
HPO |
|
MIM:300534 ORPHA:85279 |
NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,277...53,225,422
|
|
G |
KDM6A |
lysine demethylase 6A |
|
IAGP |
|
HPO |
|
MIM:147920 ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
|
|
G |
KDM6B |
lysine demethylase 6B |
|
IAGP |
|
HPO |
|
MIM:618505 |
NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
|
|
G |
KDR |
kinase insert domain receptor |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
|
|
G |
KIF21A |
kinesin family member 21A |
|
IAGP |
|
HPO |
|
ORPHA:994 |
NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390
|
|
G |
KIF7 |
kinesin family member 7 |
|
IAGP |
|
HPO |
|
MIM:200990 ORPHA:2189 ORPHA:36 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
|
|
G |
KISS1 |
KiSS-1 metastasis suppressor |
|
IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
|
|
G |
KISS1R |
KISS1 receptor |
|
IAGP |
|
HPO |
|
MIM:614837 ORPHA:432 |
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
|
|
G |
KMT2A |
lysine methyltransferase 2A |
|
IAGP |
|
HPO |
|
MIM:605130 |
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
|
|
G |
KMT2D |
lysine methyltransferase 2D |
|
IAGP |
|
HPO |
|
MIM:147920 ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
|
|
G |
KMT2E |
lysine methyltransferase 2E (inactive) |
|
IAGP |
|
HPO |
|
MIM:618512 |
NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019
|
|
G |
KMT5B |
lysine methyltransferase 5B |
|
IAGP |
|
HPO |
|
MIM:617788 |
NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
MIM:609942 ORPHA:1340 ORPHA:648 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
|
|
G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
MIM:236670 ORPHA:370968 ORPHA:899 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
|
|
G |
LAS1L |
LAS1 like ribosome biogenesis factor |
|
IAGP |
|
HPO |
|
MIM:309585 ORPHA:3459 |
NCBI chr X:65,512,582...65,534,787
Ensembl chr X:65,438,549...65,534,810
|
|
G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
IAGP |
|
HPO |
|
MIM:194190 ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
|
|
G |
LFNG |
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:2311 |
NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
|
|
G |
LHX1 |
LIM homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:261265 |
NCBI chr17:36,936,785...36,944,612
Ensembl chr17:36,936,785...36,944,612
|
|
G |
LHX4 |
LIM homeobox 4 |
|
IAGP |
|
HPO |
|
ORPHA:95496 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
|
|
G |
LIG4 |
DNA ligase 4 |
|
IAGP |
|
HPO |
|
MIM:606593 ORPHA:235 ORPHA:99812 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
|
|
G |
LIMK1 |
LIM domain kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
|
|
G |
LMBR1 |
limb development membrane protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:2378 |
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
|
|
G |
LMNB2 |
lamin B2 |
|
IAGP |
|
HPO |
|
MIM:619180 |
NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
|
|
G |
LMOD1 |
leiomodin 1 |
|
IAGP |
|
HPO |
|
ORPHA:2241 |
NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548
|
|
G |
LMX1B |
LIM homeobox transcription factor 1 beta |
|
IAGP |
|
HPO |
|
ORPHA:495818 |
NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
|
|
G |
LOC126862264 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 |
|
IAGP |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11528510 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16627024 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20301405 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23164758 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:29393966 PMID:30171907 PMID:31088470 PMID:33223529 More...
|
|
NCBI chr16:3,243,322...3,244,521
|
|
G |
LONP1 |
lon peptidase 1, mitochondrial |
|
IAGP |
|
HPO |
|
MIM:600373 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
|
|
G |
LRIG2 |
leucine rich repeats and immunoglobulin like domains 2 |
|
IAGP |
|
HPO |
|
ORPHA:2704 |
NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260
|
|
G |
LSM1 |
LSM1 homolog, mRNA degradation associated |
|
IAGP |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 PMID:31010896 |
|
NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730
|
|
G |
LUZP1 |
leucine zipper protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
|
|
G |
LZTFL1 |
leucine zipper transcription factor like 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
|
|
G |
LZTR1 |
leucine zipper like post translational regulator 1 |
|
IAGP |
|
HPO |
|
MIM:605275 MIM:616564 ORPHA:648 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
|
|
G |
MAB21L1 |
mab-21 like 1 |
|
IAGP |
|
HPO |
|
ORPHA:495875 |
NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
|
|
G |
MADD |
MAP kinase activating death domain |
|
IAGP |
|
HPO |
|
MIM:619004 MIM:619005 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
|
|
G |
MAF |
MAF bZIP transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:1272 |
NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
|
|
G |
MAGEL2 |
MAGE family member L2 |
|
IAGP |
|
HPO |
|
MIM:176270 MIM:615547 ORPHA:177901 ORPHA:177904 ORPHA:398069 ORPHA:98754 ORPHA:994 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
|
|
G |
MAMLD1 |
mastermind like domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:456328 ORPHA:95706 |
NCBI chr X:150,361,572...150,514,173
Ensembl chr X:150,361,422...150,514,178
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
IAGP |
|
HPO |
|
MIM:163950 ORPHA:1340 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
|
|
G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
|
IAGP |
|
HPO |
|
ORPHA:1340 ORPHA:638 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
|
|
G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
|
IAGP |
|
HPO |
|
MIM:617137 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
|
|
G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
IAGP |
|
HPO |
|
MIM:619087 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
|
|
G |
MAPRE2 |
microtubule associated protein RP/EB family member 2 |
|
IAGP |
|
HPO |
|
MIM:616734 ORPHA:2505 |
| |