Term: | Abnormality of the anterior pituitary |
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Accession: | HP:0011747
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browse the term
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Definition: | An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. |
Synonyms: | related_synonym: | Pituitary disease |
| xref: | SNOMEDCT_US:399244003; UMLS:C0032002; UMLS:C4023206 |
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FOXA2 |
forkhead box A2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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GCNA |
germ cell nuclear acidic peptidase |
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IAGP |
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HPO |
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MIM:301077 |
NCBI chr X:71,578,437...71,613,583
Ensembl chr X:71,578,437...71,613,583
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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ORPHA:90695 ORPHA:95494 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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SOX3 |
SRY-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:90695 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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TAF4B |
TATA-box binding protein associated factor 4b |
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IAGP |
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HPO |
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MIM:615841 |
NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685
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ZMYND15 |
zinc finger MYND-type containing 15 |
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IAGP |
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HPO |
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MIM:615842 |
NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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ORPHA:2965 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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IAGP |
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HPO |
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MIM:615926 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:2965 ORPHA:91347 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CDKN2A |
cyclin dependent kinase inhibitor 2A |
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IAGP |
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HPO |
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ORPHA:1501 |
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:1501 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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HSALR1 |
HSP90AB1 associated lncRNA 1 |
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IAGP |
ClinVar Annotator: match by term: ACTH deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr16:88,731,180...88,741,425
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LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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ORPHA:231720 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:2965 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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PIEZO1 |
piezo type mechanosensitive ion channel component 1 (Er blood group) |
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IAGP |
ClinVar Annotator: match by term: ACTH deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
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POMC |
proopiomelanocortin |
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IAGP |
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HPO |
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MIM:609734 |
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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POU3F4 |
POU class 3 homeobox 4 |
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IAGP |
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HPO |
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ORPHA:1435 |
NCBI chr X:83,508,290...83,512,127
Ensembl chr X:83,508,290...83,512,127
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:1501 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar Annotator: match by term: ACTH deficiency |
ClinVar |
PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 PMID:28492532 PMID:30576320 PMID:31273949 PMID:31630094 More...
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NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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TBX19 |
T-box transcription factor 19 |
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IAGP |
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar Annotator: match by term: ACTH deficiency |
ClinVar HPO |
PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 PMID:15613420 PMID:17576681 PMID:17652218 PMID:22170728 PMID:25326635 PMID:25741868 PMID:28492532 PMID:33423260 More...
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MIM:201400 |
NCBI chr 1:168,280,877...168,314,426
Ensembl chr 1:168,280,877...168,314,426
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:1501 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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ORPHA:1501 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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ZNRF3 |
zinc and ring finger 3 |
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IAGP |
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HPO |
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ORPHA:1501 |
NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488
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ABCD1 |
ATP binding cassette subfamily D member 1 |
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IAGP |
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HPO |
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ORPHA:139399 |
NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755
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CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
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IAGP |
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HPO |
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MIM:613743 ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
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CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:90793 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
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IAGP |
DNA:polymorphisms |
RGD |
PMID:21816777 PMID:19858318 |
RGD:5147553, RGD:5147588 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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IAGP |
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HPO |
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ORPHA:90791 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
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MCM4 |
minichromosome maintenance complex component 4 |
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IAGP |
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HPO |
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MIM:609981 |
NCBI chr 8:47,960,941...47,978,160
Ensembl chr 8:47,960,185...47,978,160
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PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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IAGP |
DNA:SNP:CDS:rs2476601 (1858C>T) |
RGD |
PMID:18301444 |
RGD:6484549 |
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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AAAS |
aladin WD repeat nucleoporin |
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IAGP |
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HPO |
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ORPHA:869 |
NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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ORPHA:2965 ORPHA:963 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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ANOS1 |
anosmin 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
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B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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ORPHA:709 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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MIM:607932 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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CCDC141 |
coiled-coil domain containing 141 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
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CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:2965 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CDON |
cell adhesion associated, oncogene regulated |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:138 ORPHA:478 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CRIPTO |
cripto, EGF-CFC family member |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
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DCC |
DCC netrin 1 receptor |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DISP1 |
dispatched RND transporter family member 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
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DLL1 |
delta like canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
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DUSP6 |
dual specificity phosphatase 6 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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ORPHA:181 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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EDA2R |
ectodysplasin A2 receptor |
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IAGP |
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HPO |
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ORPHA:181 |
NCBI chr X:66,595,637...66,639,269
Ensembl chr X:66,595,637...66,639,298
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FEZF1 |
FEZ family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
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FGF17 |
fibroblast growth factor 17 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
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FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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ORPHA:280195 ORPHA:478 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FLRT3 |
fibronectin leucine rich transmembrane protein 3 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
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FOXH1 |
forkhead box H1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
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GAS1 |
growth arrest specific 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GMPPA |
GDP-mannose pyrophosphorylase A |
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IAGP |
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HPO |
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ORPHA:869 |
NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898
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GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
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IL17RD |
interleukin 17 receptor D |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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MIM:221750 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:2965 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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MT-ATP8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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IAGP |
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HPO |
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ORPHA:480 |
NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
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MT-TL1 |
mitochondrially encoded tRNA-Leu (UUA/G) 1 |
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IAGP |
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HPO |
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ORPHA:480 |
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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NDNF |
neuron derived neurotrophic factor |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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POU3F4 |
POU class 3 homeobox 4 |
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IAGP |
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HPO |
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ORPHA:1435 |
NCBI chr X:83,508,290...83,512,127
Ensembl chr X:83,508,290...83,512,127
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PROK2 |
prokineticin 2 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
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PROKR2 |
prokineticin receptor 2 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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PTCH1 |
patched 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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IAGP |
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HPO |
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ORPHA:480 |
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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SEMA3A |
semaphorin 3A |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
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SEMA3E |
semaphorin 3E |
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IAGP |
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HPO |
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ORPHA:138 |
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
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SHH |
sonic hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:147250 ORPHA:280195 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SIX3 |
SIX homeobox 3 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
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SMO |
smoothened, frizzled class receptor |
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IAGP |
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HPO |
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MIM:241800 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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SOX10 |
SRY-box transcription factor 10 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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SPRY4 |
sprouty RTK signaling antagonist 4 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
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STIL |
STIL centriolar assembly protein |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
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TACR3 |
tachykinin receptor 3 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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TGIF1 |
TGFB induced factor homeobox 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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MIM:602152 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:1896 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TRAPPC11 |
trafficking protein particle complex subunit 11 |
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IAGP |
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HPO |
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ORPHA:869 |
NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
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WDR11 |
WD repeat domain 11 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
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ZIC2 |
Zic family member 2 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
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FOXA2 |
forkhead box A2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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GATA6 |
GATA binding protein 6 |
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IAGP |
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HPO |
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ORPHA:2255 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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MIM:610829 ORPHA:95494 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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ROBO1 |
roundabout guidance receptor 1 |
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IAGP |
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HPO |
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MIM:620303 |
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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SIX3 |
SIX homeobox 3 |
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IAGP |
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HPO |
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MIM:157170 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
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POU3F4 |
POU class 3 homeobox 4 |
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IAGP |
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HPO |
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ORPHA:1435 |
NCBI chr X:83,508,290...83,512,127
Ensembl chr X:83,508,290...83,512,127
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ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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IAGP |
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HPO |
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MIM:615926 ORPHA:3157 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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CDC42BPB |
CDC42 binding protein kinase beta |
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IAGP |
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HPO |
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MIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
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DMXL2 |
Dmx like 2 |
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IAGP |
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HPO |
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MIM:616113 ORPHA:453533 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:3157 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FOXA2 |
forkhead box A2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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GH1 |
growth hormone 1 |
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IAGP |
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HPO |
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MIM:173100 |
NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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GHRHR |
growth hormone releasing hormone receptor |
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IAGP |
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HPO |
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MIM:618157 |
NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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MIM:610829 MIM:615849 ORPHA:95494 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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MIM:182230 ORPHA:226307 ORPHA:3157 ORPHA:95494 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HID1 |
HID1 domain containing |
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IAGP |
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HPO |
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MIM:619983 |
NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166
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IFT56 |
intraflagellar transport 56 |
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IAGP |
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HPO |
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MIM:619534 |
NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
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LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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MIM:221750 ORPHA:226307 ORPHA:231720 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:95494 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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MADD |
MAP kinase activating death domain |
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IAGP |
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HPO |
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MIM:619004 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MTHFR |
methylenetetrahydrofolate reductase |
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IAGP |
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HPO |
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ORPHA:563612 |
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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NDN |
necdin, MAGE family member |
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IAGP |
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HPO |
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ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
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NONO |
non-POU domain containing octamer binding |
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IAGP |
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HPO |
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ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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OCA2 |
OCA2 melanosomal transmembrane protein |
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IAGP |
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HPO |
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ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:3157 ORPHA:95494 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP |
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HPO |
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MIM:215470 MIM:275400 |
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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MIM:613038 ORPHA:226307 ORPHA:95494 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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PROKR2 |
prokineticin receptor 2 |
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IAGP |
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HPO |
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ORPHA:3157 |
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:90695 ORPHA:95494 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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MIM:151050 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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RBM28 |
RNA binding motif protein 28 |
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IAGP |
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HPO |
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ORPHA:157954 |
NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
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RNPC3 |
RNA binding region (RNP1, RRM) containing 3 |
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IAGP |
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HPO |
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MIM:618160 |
NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239
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ROBO1 |
roundabout guidance receptor 1 |
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IAGP |
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HPO |
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MIM:620303 |
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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SIX6 |
SIX homeobox 6 |
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IAGP |
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HPO |
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MIM:206900 |
NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
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SLC30A7 |
solute carrier family 30 member 7 |
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IAGP |
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HPO |
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MIM:620501 |
NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260
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SNRPN |
small nuclear ribonucleoprotein polypeptide N |
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IAGP |
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HPO |
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ORPHA:177901 ORPHA:177904 ORPHA:177907 ORPHA:98754 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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SOX2 |
SRY-box transcription factor 2 |
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IAGP |
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HPO |
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MIM:206900 ORPHA:3157 |
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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SOX3 |
SRY-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:3157 ORPHA:67045 ORPHA:90695 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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MIM:181450 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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VANGL2 |
VANGL planar cell polarity protein 2 |
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IAGP |
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HPO |
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ORPHA:563612 |
NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678
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ZSWIM6 |
zinc finger SWIM-type containing 6 |
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IAGP |
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HPO |
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ORPHA:1827 |
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
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POMC |
proopiomelanocortin |
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IAGP |
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HPO |
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MIM:609734 |
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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MIM:101800 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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ACP5 |
acid phosphatase 5, tartrate resistant |
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IAGP |
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HPO |
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ORPHA:1855 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ADAT3 |
adenosine deaminase tRNA specific 3 |
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IAGP |
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HPO |
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MIM:615286 ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
ClinVar Annotator: match by term: Growth hormone deficiency |
HPO ClinVar |
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 PMID:28492532 PMID:29475819 PMID:29724491 PMID:29911927 More...
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MIM:615873 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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AFF4 |
ALF transcription elongation factor 4 |
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IAGP |
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HPO |
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ORPHA:444077 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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MIM:203800 ORPHA:64 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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IAGP |
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HPO |
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MIM:615926 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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BPTF |
bromodomain PHD finger transcription factor |
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IAGP |
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HPO |
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ORPHA:529962 |
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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BRCC3 |
BRCA1/BRCA2-containing complex subunit 3 |
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IAGP |
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HPO |
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ORPHA:280679 |
NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077
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BTK |
Bruton tyrosine kinase |
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IAGP |
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HPO |
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MIM:307200 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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CDKN1C |
cyclin dependent kinase inhibitor 1C |
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IAGP |
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HPO |
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MIM:614732 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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CDON |
cell adhesion associated, oncogene regulated |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
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CEP57 |
centrosomal protein 57 |
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IAGP |
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HPO |
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MIM:614114 |
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
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CEP85L |
centrosomal protein 85 like |
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IAGP |
ClinVar Annotator: match by term: Growth hormone deficiency |
ClinVar |
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NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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MIM:214800 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CRIPTO |
cripto, EGF-CFC family member |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
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CTSK |
cathepsin K |
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IAGP |
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HPO |
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ORPHA:763 |
NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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DISP1 |
dispatched RND transporter family member 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
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DLL1 |
delta like canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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ORPHA:268261 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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EFL1 |
elongation factor like GTPase 1 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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G |
EIF2S3 |
eukaryotic translation initiation factor 2 subunit gamma |
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IAGP |
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HPO |
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MIM:300148 |
NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810
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ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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MIM:216100 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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FANCF |
FA complementation group F |
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IAGP |
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HPO |
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MIM:603467 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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G |
FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:1263 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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G |
FOXA2 |
forkhead box A2 |
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IAGP |
|
HPO |
|
ORPHA:95494 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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G |
FOXH1 |
forkhead box H1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
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GAS1 |
growth arrest specific 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
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GH-LCR |
growth hormone locus control region |
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IAGP |
ClinVar Annotator: match by term: Growth hormone deficiency ClinVar Annotator: match by term: Decreased response to growth hormone stimulation test |
ClinVar |
PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 PMID:16741161 PMID:17223997 PMID:18160466 PMID:18473352 PMID:18785993 PMID:18950677 PMID:23182822 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:33729509 More...
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NCBI chr17:63,917,193...63,958,852
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GH1 |
growth hormone 1 |
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IAGP |
ClinVar Annotator: match by term: Growth hormone deficiency ClinVar Annotator: match by term: Decreased response to growth hormone stimulation test |
ClinVar HPO |
PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 PMID:16741161 PMID:17223997 PMID:18160466 PMID:18473352 PMID:18785993 PMID:18950677 PMID:23182822 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:33729509 More...
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MIM:173100 MIM:612781 |
NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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GHRHR |
growth hormone releasing hormone receptor |
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IAGP |
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HPO |
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MIM:618157 |
NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254
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GHSR |
growth hormone secretagogue receptor |
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IAGP |
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HPO |
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MIM:615925 |
NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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MIM:610829 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 ORPHA:95494 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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MIM:146510 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GMNN |
geminin DNA replication inhibitor |
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IAGP |
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HPO |
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MIM:616835 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
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GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:79443 ORPHA:79444 ORPHA:94089 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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GRB10 |
growth factor receptor bound protein 10 |
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IAGP |
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HPO |
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ORPHA:96182 |
NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
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GRM7 |
glutamate metabotropic receptor 7 |
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IAGP |
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HPO |
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MIM:618922 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
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H19-ICR |
H19/IGF2 imprinting control region |
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IAGP |
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HPO |
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MIM:180860 |
NCBI chr11:1,998,202...2,003,509
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HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
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IAGP |
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HPO |
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MIM:176270 |
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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MIM:182230 ORPHA:226307 ORPHA:95494 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:616007 ORPHA:436174 |
NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
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IGF2 |
insulin like growth factor 2 |
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IAGP |
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HPO |
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MIM:180860 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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IPW |
imprinted in Prader-Willi syndrome |
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IAGP |
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HPO |
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MIM:176270 |
NCBI chr15:25,116,545...25,122,476
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KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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KATNIP |
katanin interacting protein |
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IAGP |
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HPO |
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MIM:616784 |
NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344
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KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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MIM:619476 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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KMT2A |
lysine methyltransferase 2A |
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IAGP |
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HPO |
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ORPHA:319182 |
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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LEPR |
leptin receptor |
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IAGP |
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HPO |
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MIM:614963 |
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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MIM:221750 ORPHA:226307 ORPHA:231720 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:95494 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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MADD |
MAP kinase activating death domain |
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IAGP |
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HPO |
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MIM:619004 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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MIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAP2K2 |
mitogen-activated protein kinase kinase 2 |
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IAGP |
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HPO |
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MIM:615280 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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MKRN3 |
makorin ring finger protein 3 |
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IAGP |
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HPO |
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MIM:176270 |
NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
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MKRN3-AS1 |
MKRN3 antisense RNA 1 |
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IAGP |
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HPO |
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MIM:176270 |
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MPDU1 |
mannose-P-dolichol utilization defect 1 |
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IAGP |
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HPO |
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ORPHA:79323 |
NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789
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NDN |
necdin, MAGE family member |
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IAGP |
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HPO |
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ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
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NFKB2 |
nuclear factor kappa B subunit 2 |
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IAGP |
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HPO |
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MIM:615577 ORPHA:293978 |
NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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NKX2-1 |
NK2 homeobox 1 |
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IAGP |
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HPO |
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MIM:610978 |
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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NPAP1 |
nuclear pore associated protein 1 |
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IAGP |
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HPO |
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MIM:176270 |
NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
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NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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OCA2 |
OCA2 melanosomal transmembrane protein |
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IAGP |
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HPO |
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ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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PCSK1 |
proprotein convertase subtilisin/kexin type 1 |
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IAGP |
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HPO |
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ORPHA:71528 |
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
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PITX2 |
paired like homeodomain 2 |
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IAGP |
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HPO |
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MIM:180500 |
NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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PLCH1 |
phospholipase C eta 1 |
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IAGP |
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HPO |
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ORPHA:93925 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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PLN |
phospholamban |
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IAGP |
ClinVar Annotator: match by term: Growth hormone deficiency |
ClinVar |
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NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
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PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP |
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HPO |
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MIM:275400 ORPHA:3363 |
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
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HPO |
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MIM:618336 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
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ORPHA:3455 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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POLR3GL |
RNA polymerase III subunit GL |
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IAGP |
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HPO |
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MIM:619234 |
NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848
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POMC |
proopiomelanocortin |
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IAGP |
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HPO |
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MIM:609734 ORPHA:71526 |
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:95494 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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POU3F4 |
POU class 3 homeobox 4 |
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IAGP |
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HPO |
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ORPHA:1435 |
NCBI chr X:83,508,290...83,512,127
Ensembl chr X:83,508,290...83,512,127
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PREPL |
prolyl endopeptidase like |
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IAGP |
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HPO |
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MIM:616224 |
NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
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PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:90695 ORPHA:95494 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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PSMD12 |
proteasome 26S subunit, non-ATPase 12 |
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IAGP |
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HPO |
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ORPHA:529962 |
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
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PTCH1 |
patched 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PWAR1 |
Prader Willi/Angelman region RNA 1 |
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IAGP |
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HPO |
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MIM:176270 |
NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
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PWRN1 |
Prader-Willi region non-protein coding RNA 1 |
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IAGP |
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HPO |
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MIM:176270 |
NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
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RBM28 |
RNA binding motif protein 28 |
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IAGP |
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HPO |
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ORPHA:157954 |
NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
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RFWD3 |
ring finger and WD repeat domain 3 |
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IAGP |
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HPO |
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MIM:617784 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
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RNPC3 |
RNA binding region (RNP1, RRM) containing 3 |
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IAGP |
ClinVar Annotator: match by term: Growth hormone deficiency |
ClinVar HPO |
PMID:24480542 PMID:29255062 |
MIM:618160 |
NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239
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RRAS2 |
RAS related 2 |
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IAGP |
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HPO |
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MIM:618624 |
NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
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SBDS |
SBDS ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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SHH |
sonic hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:147250 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
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HPO |
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MIM:613406 ORPHA:94065 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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SIX3 |
SIX homeobox 3 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
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SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
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HPO |
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MIM:602782 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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SLC7A7 |
solute carrier family 7 member 7 |
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IAGP |
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HPO |
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ORPHA:470 |
NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
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SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
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HPO |
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ORPHA:220386 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SNORD115-1 |
small nucleolar RNA, C/D box 115-1 |
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IAGP |
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HPO |
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MIM:176270 |
NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
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SNORD116-1 |
small nucleolar RNA, C/D box 116-1 |
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IAGP |
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HPO |
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MIM:176270 |
NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
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SNRPN |
small nuclear ribonucleoprotein polypeptide N |
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IAGP |
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HPO |
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ORPHA:177901 ORPHA:177904 ORPHA:177907 ORPHA:98754 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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SOX11 |
SRY-box transcription factor 11 |
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IAGP |
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HPO |
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MIM:615866 |
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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SOX3 |
SRY-box transcription factor 3 |
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IAGP |
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HPO |
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MIM:300123 ORPHA:67045 ORPHA:90695 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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SRD5A3 |
steroid 5 alpha-reductase 3 |
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IAGP |
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HPO |
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ORPHA:324737 |
NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
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STAG2 |
STAG2 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93925 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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STAT5B |
signal transducer and activator of transcription 5B |
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IAGP |
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HPO |
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MIM:245590 |
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
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STIL |
STIL centriolar assembly protein |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
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STX16 |
syntaxin 16 |
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IAGP |
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HPO |
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ORPHA:94089 |
NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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MIM:241410 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBCK |
TBC1 domain containing kinase |
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IAGP |
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HPO |
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ORPHA:488632 |
NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
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TBX2 |
T-box transcription factor 2 |
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IAGP |
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HPO |
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MIM:618223 |
NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
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TGIF1 |
TGFB induced factor homeobox 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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THOC2 |
THO complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:457240 |
NCBI chr X:123,600,569...123,733,052
Ensembl chr X:123,600,561...123,733,056
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TMCO1 |
transmembrane and coiled-coil domains 1 |
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IAGP |
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HPO |
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MIM:213980 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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MIM:602152 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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MIM:604292 ORPHA:1896 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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MIM:216550 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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WASHC5 |
WASH complex subunit 5 |
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IAGP |
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HPO |
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MIM:220210 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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WDR4 |
WD repeat domain 4 |
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IAGP |
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HPO |
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MIM:618347 |
NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
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YY1 |
YY1 transcription factor |
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IAGP |
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HPO |
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ORPHA:506358 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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ZIC2 |
Zic family member 2 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
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ZNF148 |
zinc finger protein 148 |
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IAGP |
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HPO |
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MIM:617260 |
NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325
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ZNF462 |
zinc finger protein 462 |
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IAGP |
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HPO |
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ORPHA:502430 |
NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634
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AXIN1 |
axin 1 |
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IAGP |
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HPO |
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MIM:620558 |
NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
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FOXA2 |
forkhead box A2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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ORPHA:90695 ORPHA:95494 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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SOX3 |
SRY-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:90695 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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AR |
androgen receptor |
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IAGP |
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HPO |
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MIM:300068 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
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HPO |
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MIM:609441 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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BNC1 |
basonuclin zinc finger protein 1 |
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IAGP |
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HPO |
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MIM:618723 |
NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
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C14orf39 |
chromosome 14 open reading frame 39 |
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IAGP |
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HPO |
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MIM:619203 |
NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543
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CBX2 |
chromobox 2 |
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IAGP |
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HPO |
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MIM:613080 |
NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983
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CLPP |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
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IAGP |
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HPO |
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MIM:614129 |
NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242
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CNBP |
CCHC-type zinc finger nucleic acid binding protein |
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IAGP |
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HPO |
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MIM:602668 |
NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922
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CYB5A |
cytochrome b5 type A |
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IAGP |
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HPO |
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ORPHA:90796 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
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CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
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CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:90793 ORPHA:90796 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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DHX37 |
DEAH-box helicase 37 |
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IAGP |
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HPO |
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MIM:273250 ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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DIAPH2 |
diaphanous related formin 2 |
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IAGP |
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HPO |
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MIM:300511 |
NCBI chr X:96,684,842...97,604,997
Ensembl chr X:96,684,712...97,604,997
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:616946 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ESR2 |
estrogen receptor 2 |
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IAGP |
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HPO |
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MIM:618187 |
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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FANCM |
FA complementation group M |
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IAGP |
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HPO |
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MIM:618086 MIM:618096 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
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IAGP |
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HPO |
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MIM:305400 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
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FIGLA |
folliculogenesis specific bHLH transcription factor |
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IAGP |
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HPO |
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MIM:612310 |
NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643
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FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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MIM:620103 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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FOXL2 |
forkhead box L2 |
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IAGP |
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HPO |
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ORPHA:572333 |
NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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GATA4 |
GATA binding protein 4 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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GCNA |
germ cell nuclear acidic peptidase |
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IAGP |
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HPO |
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MIM:301077 |
NCBI chr X:71,578,437...71,613,583
Ensembl chr X:71,578,437...71,613,583
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GDF9 |
growth differentiation factor 9 |
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IAGP |
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HPO |
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MIM:618014 |
NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884
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HFM1 |
helicase for meiosis 1 |
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IAGP |
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HPO |
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MIM:615724 |
NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856
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KASH5 |
KASH domain containing 5 |
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IAGP |
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HPO |
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MIM:620548 |
NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990
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KISS1R |
KISS1 receptor |
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IAGP |
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HPO |
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MIM:176400 |
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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LHB |
luteinizing hormone subunit beta |
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IAGP |
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HPO |
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MIM:228300 |
NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
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MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MCM8 |
minichromosome maintenance 8 homologous recombination repair factor |
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IAGP |
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HPO |
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MIM:612885 |
NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977
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MCM9 |
minichromosome maintenance 9 homologous recombination repair factor |
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IAGP |
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HPO |
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MIM:616185 |
NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162
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MEIOB |
meiosis specific with OB-fold |
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IAGP |
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HPO |
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MIM:620686 |
NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294
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MRPS22 |
mitochondrial ribosomal protein S22 |
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IAGP |
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HPO |
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MIM:618117 |
NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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MSH4 |
mutS homolog 4 |
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IAGP |
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HPO |
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MIM:619938 |
NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
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MSH5 |
mutS homolog 5 |
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IAGP |
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HPO |
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MIM:617442 |
NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676
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NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
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IAGP |
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HPO |
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MIM:612964 MIM:612965 ORPHA:251510 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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NSMCE2 |
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase |
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IAGP |
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HPO |
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MIM:617253 |
NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125
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POR |
cytochrome p450 oxidoreductase |
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IAGP |
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HPO |
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ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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PPP2R3C |
protein phosphatase 2 regulatory subunit B''gamma |
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IAGP |
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HPO |
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MIM:618419 |
NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
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PSMC3IP |
PSMC3 interacting protein |
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IAGP |
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HPO |
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MIM:614324 |
NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
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SHOC1 |
shortage in chiasmata 1 |
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IAGP |
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HPO |
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MIM:619949 |
NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008
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SLC30A7 |
solute carrier family 30 member 7 |
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IAGP |
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HPO |
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MIM:620501 |
NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260
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SOHLH1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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IAGP |
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HPO |
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MIM:617690 |
NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498
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G |
SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SPIDR |
scaffold protein involved in DNA repair |
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IAGP |
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HPO |
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MIM:619665 |
NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
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SRY |
sex determining region Y |
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IAGP |
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HPO |
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MIM:400044 MIM:400045 ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
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STAG3 |
STAG3 cohesin complex component |
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IAGP |
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HPO |
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MIM:615723 |
NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387
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TAF4B |
TATA-box binding protein associated factor 4b |
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IAGP |
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HPO |
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MIM:615841 |
NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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MIM:620311 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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VAMP7 |
vesicle associated membrane protein 7 |
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IAGP |
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HPO |
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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
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WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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G |
XPO5 |
exportin 5 |
susceptibility |
IAGP |
DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) |
RGD |
PMID:23549446 |
RGD:11041728 |
NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038
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G |
XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
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HPO |
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MIM:619146 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
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G |
ZMYND15 |
zinc finger MYND-type containing 15 |
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IAGP |
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HPO |
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MIM:615842 |
NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119
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G |
ZSWIM7 |
zinc finger SWIM-type containing 7 |
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IAGP |
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HPO |
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MIM:619834 |
NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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MIM:102200 ORPHA:2965 ORPHA:963 ORPHA:99725 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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G |
CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:2965 ORPHA:91347 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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MIM:610755 ORPHA:276152 ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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MIM:174800 ORPHA:562 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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MIM:300942 MIM:300943 ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
HPGD |
15-hydroxyprostaglandin dehydrogenase |
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IAGP |
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HPO |
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ORPHA:2796 |
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
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G |
IGF1 |
insulin like growth factor 1 |
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IAGP |
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HPO |
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MIM:608747 |
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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KCNJ11 |
potassium inwardly rectifying channel subfamily J member 11 |
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IAGP |
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HPO |
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ORPHA:79644 |
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
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MEN1 |
menin 1 |
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IAGP |
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HPO |
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MIM:131100 ORPHA:2965 ORPHA:652 ORPHA:99725 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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PDE11A |
phosphodiesterase 11A |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
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PMM2 |
phosphomannomutase 2 |
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IAGP |
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HPO |
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ORPHA:79318 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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MIM:160980 ORPHA:1359 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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SLCO2A1 |
solute carrier organic anion transporter family member 2A1 |
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IAGP |
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HPO |
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ORPHA:2796 |
NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
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AR |
androgen receptor |
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IAGP |
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HPO |
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MIM:300068 ORPHA:90797 ORPHA:99429 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
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HPO |
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MIM:609441 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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C14orf39 |
chromosome 14 open reading frame 39 |
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IAGP |
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HPO |
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MIM:619203 |
NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543
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CLPP |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
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IAGP |
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HPO |
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MIM:614129 |
NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242
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CYB5A |
cytochrome b5 type A |
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IAGP |
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HPO |
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MIM:250790 ORPHA:90796 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
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CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
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CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:90793 ORPHA:90796 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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DHX37 |
DEAH-box helicase 37 |
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IAGP |
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HPO |
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MIM:273250 ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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DIAPH2 |
diaphanous related formin 2 |
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IAGP |
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HPO |
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MIM:300511 |
NCBI chr X:96,684,842...97,604,997
Ensembl chr X:96,684,712...97,604,997
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ESR2 |
estrogen receptor 2 |
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IAGP |
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HPO |
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MIM:618187 |
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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FANCM |
FA complementation group M |
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IAGP |
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HPO |
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MIM:618086 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
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IAGP |
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HPO |
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MIM:305400 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
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FIGLA |
folliculogenesis specific bHLH transcription factor |
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IAGP |
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HPO |
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MIM:612310 |
NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643
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FOXL2 |
forkhead box L2 |
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IAGP |
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HPO |
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ORPHA:572333 |
NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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FSHB |
follicle stimulating hormone subunit beta |
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IAGP |
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HPO |
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MIM:229070 |
NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
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GATA4 |
GATA binding protein 4 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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GCNA |
germ cell nuclear acidic peptidase |
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IAGP |
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HPO |
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MIM:301077 |
NCBI chr X:71,578,437...71,613,583
Ensembl chr X:71,578,437...71,613,583
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GDF9 |
growth differentiation factor 9 |
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IAGP |
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HPO |
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MIM:618014 |
NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884
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HFM1 |
helicase for meiosis 1 |
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IAGP |
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HPO |
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MIM:615724 |
NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856
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KISS1R |
KISS1 receptor |
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IAGP |
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HPO |
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MIM:176400 |
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MCM8 |
minichromosome maintenance 8 homologous recombination repair factor |
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IAGP |
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HPO |
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MIM:612885 |
NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977
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MRPS22 |
mitochondrial ribosomal protein S22 |
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IAGP |
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HPO |
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MIM:618117 |
NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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MSH4 |
mutS homolog 4 |
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IAGP |
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HPO |
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MIM:619938 |
NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
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NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
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IAGP |
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HPO |
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MIM:612964 MIM:612965 ORPHA:251510 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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NSMCE2 |
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase |
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IAGP |
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HPO |
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MIM:617253 |
NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125
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POR |
cytochrome p450 oxidoreductase |
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IAGP |
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HPO |
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ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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PPP2R3C |
protein phosphatase 2 regulatory subunit B''gamma |
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IAGP |
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HPO |
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MIM:618419 |
NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
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PSMC3IP |
PSMC3 interacting protein |
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IAGP |
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HPO |
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MIM:614324 |
NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
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SOHLH1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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IAGP |
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HPO |
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MIM:617690 |
NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498
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SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SPIDR |
scaffold protein involved in DNA repair |
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IAGP |
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HPO |
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MIM:619665 |
NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
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SRY |
sex determining region Y |
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IAGP |
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HPO |
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MIM:400044 MIM:400045 ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
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STAG3 |
STAG3 cohesin complex component |
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IAGP |
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HPO |
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MIM:615723 |
NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387
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VAMP7 |
vesicle associated membrane protein 7 |
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IAGP |
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HPO |
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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
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WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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G |
XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
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HPO |
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MIM:619146 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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ZFPM2 |
zinc finger protein, FOG family member 2 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
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ZSWIM7 |
zinc finger SWIM-type containing 7 |
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IAGP |
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HPO |
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MIM:619834 |
NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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MIM:214800 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:615465 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FSHB |
follicle stimulating hormone subunit beta |
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IAGP |
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HPO |
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ORPHA:52901 |
NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
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G |
GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
GNRHR |
gonadotropin releasing hormone receptor |
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IAGP |
ClinVar Annotator: match by term: Gonadotropin deficiency |
ClinVar |
PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15728205 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26792935 PMID:28348023 PMID:28492532 PMID:29182666 PMID:30476149 PMID:33223529 PMID:33968656 PMID:34403359 PMID:36407308 More...
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NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
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G |
LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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MIM:221750 ORPHA:231720 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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G |
NKX2-1 |
NK2 homeobox 1 |
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IAGP |
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HPO |
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MIM:610978 |
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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G |
PCSK1 |
proprotein convertase subtilisin/kexin type 1 |
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IAGP |
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HPO |
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ORPHA:71528 |
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
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G |
POMC |
proopiomelanocortin |
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IAGP |
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HPO |
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MIM:609734 ORPHA:71526 |
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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ALX3 |
ALX homeobox 3 |
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IAGP |
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HPO |
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ORPHA:391474 |
NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
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APOA5 |
apolipoprotein A5 |
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IAGP |
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HPO |
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MIM:145750 |
NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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EFL1 |
elongation factor like GTPase 1 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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G |
FARSA |
phenylalanyl-tRNA synthetase subunit alpha |
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IAGP |
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HPO |
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MIM:619013 |
NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
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G |
FOXA2 |
forkhead box A2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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G |
GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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MIM:615849 ORPHA:95494 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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MIM:300942 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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HBB |
hemoglobin subunit beta |
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IAGP |
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HPO |
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ORPHA:231214 ORPHA:231226 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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G |
HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:95494 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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ORPHA:98813 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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G |
LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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G |
LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:95494 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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MANF |
mesencephalic astrocyte derived neurotrophic factor |
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IAGP |
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HPO |
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MIM:620651 |
NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397
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G |
NFKBIA |
NFKB inhibitor alpha |
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IAGP |
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HPO |
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ORPHA:98813 |
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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G |
OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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G |
POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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MIM:613038 ORPHA:226307 ORPHA:95494 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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G |
PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:90695 ORPHA:95494 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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G |
PUS1 |
pseudouridine synthase 1 |
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IAGP |
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HPO |
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MIM:600462 |
NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896
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G |
ROBO1 |
roundabout guidance receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Hypopituitarism |
ClinVar |
PMID:25741868 |
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NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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G |
SBDS |
SBDS ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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G |
SOX3 |
SRY-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:90695 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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G |
TBC1D32 |
TBC1 domain family member 32 |
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IAGP |
ClinVar Annotator: match by term: Hypopituitarism |
ClinVar |
PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 |
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NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745
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G |
TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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ORPHA:140976 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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ZSWIM6 |
zinc finger SWIM-type containing 6 |
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IAGP |
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HPO |
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MIM:603671 ORPHA:1827 |
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
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BMP15 |
bone morphogenetic protein 15 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr X:50,910,735...50,916,641
Ensembl chr X:50,910,735...50,916,641
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BNC1 |
basonuclin zinc finger protein 1 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
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CATIP |
ciliogenesis associated TTC17 interacting protein |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,369,962
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CCDC34 |
coiled-coil domain containing 34 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234
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CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:91347 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CFTR |
CF transmembrane conductance regulator |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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CT55 |
cancer/testis antigen 55 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr X:135,156,536...135,171,827
Ensembl chr X:135,156,540...135,171,398
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CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:90793 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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DHH |
desert hedgehog signaling molecule |
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IAGP |
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HPO |
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ORPHA:168563 |
NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801
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DHX37 |
DEAH-box helicase 37 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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DNAH10 |
dynein axonemal heavy chain 10 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720
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DNHD1 |
dynein heavy chain domain 1 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758
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ESR1 |
estrogen receptor 1 |
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IAGP |
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HPO |
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ORPHA:785 |
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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FANCM |
FA complementation group M |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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FBXO43 |
F-box protein 43 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817
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FMR1 |
fragile X messenger ribonucleoprotein 1 |
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IAGP |
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HPO |
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MIM:311360 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
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FOXL2 |
forkhead box L2 |
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IAGP |
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HPO |
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MIM:110100 |
NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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FSHR |
follicle stimulating hormone receptor |
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IAGP |
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HPO |
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MIM:233300 ORPHA:243 ORPHA:64739 |
NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
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GATA4 |
GATA binding protein 4 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
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IAGP |
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HPO |
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MIM:233400 |
NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
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KLHL10 |
kelch like family member 10 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384
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LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:615300 |
NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
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LHCGR |
luteinizing hormone/choriogonadotropin receptor |
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IAGP |
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HPO |
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MIM:238320 |
NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730
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MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MEIOB |
meiosis specific with OB-fold |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294
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MOV10L1 |
Mov10 like RNA helicase 1 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690
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MRPS22 |
mitochondrial ribosomal protein S22 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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MSH4 |
mutS homolog 4 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
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MSH5 |
mutS homolog 5 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676
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NANOS1 |
nanos C2HC-type zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730
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NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
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IAGP |
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HPO |
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ORPHA:243 ORPHA:251510 ORPHA:399805 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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NUP107 |
nucleoporin 107 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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PDHA2 |
pyruvate dehydrogenase E1 subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464
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PNLDC1 |
PARN like ribonuclease domain containing exonuclease 1 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704
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POLA1 |
DNA polymerase alpha 1, catalytic subunit |
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IAGP |
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HPO |
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ORPHA:163976 |
NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986
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POLR3H |
RNA polymerase III subunit H |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
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PSMC3IP |
PSMC3 interacting protein |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
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RNF212 |
ring finger protein 212 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564
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RPL10L |
ribosomal protein L10 like |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781
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SHOC1 |
shortage in chiasmata 1 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008
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SOHLH1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498
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SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SPAG17 |
sperm associated antigen 17 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228
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SPIDR |
scaffold protein involved in DNA repair |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
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SRY |
sex determining region Y |
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IAGP |
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HPO |
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ORPHA:1772 ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
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STAG3 |
STAG3 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387
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SYCE1 |
synaptonemal complex central element protein 1 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835
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SYCP3 |
synaptonemal complex protein 3 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472
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TAF4B |
TATA-box binding protein associated factor 4b |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685
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TDRD9 |
tudor domain containing 9 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667
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G |
TERB1 |
telomere repeat binding bouquet formation protein 1 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620
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TERB2 |
telomere repeat binding bouquet formation protein 2 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229
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TEX11 |
testis expressed 11 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr X:70,511,227...70,908,711
Ensembl chr X:70,528,940...70,908,711
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TEX14 |
testis expressed 14, intercellular bridge forming factor |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055
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TEX15 |
testis expressed 15, meiosis and synapsis associated |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008
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VAMP7 |
vesicle associated membrane protein 7 |
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IAGP |
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HPO |
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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
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VDR |
vitamin D receptor |
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IAGP |
associated with Polycystic Ovary Syndrome;DNA:polymorphism: : rs731236(human) |
RGD |
PMID:24078159 |
RGD:13210783 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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ORPHA:251510 ORPHA:347 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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ZFPM2 |
zinc finger protein, FOG family member 2 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
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ZMYND15 |
zinc finger MYND-type containing 15 |
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IAGP |
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HPO |
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ORPHA:399805 |
NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119
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ZSWIM7 |
zinc finger SWIM-type containing 7 |
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IAGP |
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HPO |
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ORPHA:243 |
NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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MIM:102200 ORPHA:963 ORPHA:99725 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:91347 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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G |
CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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G |
DDC |
dopa decarboxylase |
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IAGP |
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HPO |
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ORPHA:35708 |
NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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MIM:174800 ORPHA:562 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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MIM:300942 ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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MIM:131100 ORPHA:99725 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
MSTO1 |
misato mitochondrial distribution and morphology regulator 1 |
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IAGP |
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HPO |
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MIM:617675 ORPHA:502423 |
NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951
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G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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G |
PDE11A |
phosphodiesterase 11A |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
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G |
PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PMM2 |
phosphomannomutase 2 |
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IAGP |
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HPO |
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ORPHA:79318 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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G |
POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
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ORPHA:3455 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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G |
PRLR |
prolactin receptor |
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IAGP |
|
HPO |
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MIM:615555 |
NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487
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G |
SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
|
HPO |
|
ORPHA:2495 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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G |
SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
|
HPO |
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ORPHA:2495 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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G |
SMO |
smoothened, frizzled class receptor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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TRHR |
thyrotropin releasing hormone receptor |
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IAGP |
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HPO |
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ORPHA:99832 |
NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
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TSHB |
thyroid stimulating hormone subunit beta |
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IAGP |
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HPO |
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ORPHA:90674 |
NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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COQ6 |
coenzyme Q6, monooxygenase |
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IAGP |
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HPO |
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ORPHA:93921 |
NCBI chr14:73,949,918...73,963,670
Ensembl chr14:73,949,926...73,963,670
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CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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ORPHA:93921 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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ORPHA:2495 ORPHA:93921 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
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HPO |
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ORPHA:2495 ORPHA:93921 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMO |
smoothened, frizzled class receptor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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G |
TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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CDON |
cell adhesion associated, oncogene regulated |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
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CRIPTO |
cripto, EGF-CFC family member |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
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DISP1 |
dispatched RND transporter family member 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
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DLL1 |
delta like canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
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FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FOXH1 |
forkhead box H1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
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GAS1 |
growth arrest specific 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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MIM:610829 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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MIM:146510 ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GRM7 |
glutamate metabotropic receptor 7 |
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IAGP |
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HPO |
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MIM:618922 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
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G |
HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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G |
KATNIP |
katanin interacting protein |
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IAGP |
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HPO |
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MIM:616784 |
NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344
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G |
LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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G |
LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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G |
MADD |
MAP kinase activating death domain |
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IAGP |
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HPO |
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MIM:619004 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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G |
PLCH1 |
phospholipase C eta 1 |
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IAGP |
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HPO |
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ORPHA:93925 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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G |
POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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G |
PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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MIM:262600 ORPHA:226307 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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G |
PTCH1 |
patched 1 |
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IAGP |
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HPO |
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MIM:610828 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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RNF113A |
ring finger protein 113A |
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IAGP |
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HPO |
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MIM:300953 |
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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G |
RYR1 |
ryanodine receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Panhypopituitarism |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G |
SHH |
sonic hedgehog signaling molecule |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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G |
SIX3 |
SIX homeobox 3 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
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SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
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HPO |
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ORPHA:220386 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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G |
SOX3 |
SRY-box transcription factor 3 |
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IAGP |
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HPO |
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MIM:300123 MIM:312000 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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G |
STAG2 |
STAG2 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93925 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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G |
STIL |
STIL centriolar assembly protein |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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G |
SYNE2 |
spectrin repeat containing nuclear envelope protein 2 |
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IAGP |
ClinVar Annotator: match by term: Panhypopituitarism |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
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G |
TGIF1 |
TGFB induced factor homeobox 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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G |
ZIC2 |
Zic family member 2 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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MIM:102200 MIM:219090 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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G |
APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:99818 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
ARMC5 |
armadillo repeat containing 5 |
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IAGP |
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HPO |
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ORPHA:189427 |
NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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G |
BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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MIM:617540 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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MIM:610755 ORPHA:276152 ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G |
CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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EPCAM |
epithelial cell adhesion molecule |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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MIM:174800 ORPHA:189427 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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MIM:300942 MIM:300943 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
|
ORPHA:163634 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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IAGP |
|
HPO |
|
ORPHA:163634 |
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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G |
IFNG |
interferon gamma |
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IAGP |
|
HPO |
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ORPHA:805 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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G |
KDM1A |
lysine demethylase 1A |
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IAGP |
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HPO |
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ORPHA:189427 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
|
ORPHA:144 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
MEN1 |
menin 1 |
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IAGP |
|
HPO |
|
MIM:131100 ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
MLH1 |
mutL homolog 1 |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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G |
MSH2 |
mutS homolog 2 |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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G |
MSH6 |
mutS homolog 6 |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
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G |
MUTYH |
mutY DNA glycosylase |
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IAGP |
|
HPO |
|
ORPHA:440437 |
NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PMS1 |
PMS1 homolog 1, mismatch repair system component |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
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G |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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G |
POLD1 |
DNA polymerase delta 1, catalytic subunit |
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IAGP |
|
HPO |
|
ORPHA:440437 |
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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G |
POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
|
HPO |
|
ORPHA:440437 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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MIM:160980 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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RPS20 |
ribosomal protein S20 |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
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SEMA4A |
semaphorin 4A |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2 |
TSC complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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USP8 |
ubiquitin specific peptidase 8 |
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IAGP |
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HPO |
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MIM:219090 |
NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
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PMS2 |
PMS1 homolog 2, mismatch repair system component |
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IAGP |
ClinVar Annotator: match by term: Pituitary carcinoma |
ClinVar |
PMID:7628019 PMID:15256438 PMID:16144131 PMID:16619239 PMID:17557300 PMID:18273873 PMID:18602922 PMID:19156169 PMID:20205264 PMID:20531397 PMID:21204794 PMID:21239990 PMID:21376568 PMID:22577899 PMID:22949387 PMID:23709753 PMID:24027009 PMID:24055113 PMID:24897087 PMID:25186627 PMID:25194673 PMID:25345868 PMID:25637381 PMID:25741868 PMID:25871621 PMID:26116798 PMID:26318770 PMID:26467025 PMID:26556299 PMID:26681312 PMID:26845104 PMID:27433846 PMID:27435373 PMID:27806231 PMID:27863258 PMID:28125078 PMID:28152038 PMID:28286799 PMID:28449805 PMID:28492532 PMID:28528518 PMID:28596308 PMID:29875428 PMID:30013564 PMID:30608896 PMID:30612635 PMID:30702970 PMID:31433215 PMID:31447099 PMID:31589614 PMID:31857677 PMID:31948886 PMID:31992580 PMID:32060687 PMID:32060697 PMID:32571878 PMID:32634176 PMID:32642664 PMID:32719484 PMID:33258288 PMID:33504652 PMID:35535697 PMID:36360190 More...
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NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:276152 ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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USP48 |
ubiquitin specific peptidase 48 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606
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USP8 |
ubiquitin specific peptidase 8 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
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CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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MIM:102200 ORPHA:963 ORPHA:99725 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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ALG5 |
ALG5 dolichyl-phosphate beta-glucosyltransferase |
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IAGP |
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HPO |
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ORPHA:730 |
NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:730 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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BICC1 |
BicC family RNA binding protein 1 |
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IAGP |
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HPO |
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ORPHA:730 |
NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:276152 ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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DNAJB11 |
DnaJ heat shock protein family (Hsp40) member B11 |
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IAGP |
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HPO |
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ORPHA:730 |
NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800
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G |
GANAB |
glucosidase II alpha subunit |
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IAGP |
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HPO |
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ORPHA:730 |
NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726
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GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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ORPHA:730 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:652 ORPHA:99725 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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PDE11A |
phosphodiesterase 11A |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
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PKD1 |
polycystin 1, transient receptor potential channel interacting |
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IAGP |
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HPO |
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ORPHA:730 |
NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
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PKD2 |
polycystin 2, transient receptor potential cation channel |
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IAGP |
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HPO |
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ORPHA:730 |
NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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ORPHA:2965 ORPHA:963 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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IAGP |
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HPO |
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MIM:615926 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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G |
BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:2965 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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G |
CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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FOXA2 |
forkhead box A2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:95494 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HID1 |
HID1 domain containing |
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IAGP |
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HPO |
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MIM:619983 |
NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166
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LEP |
leptin |
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IAGP |
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HPO |
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ORPHA:66628 |
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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G |
LEPR |
leptin receptor |
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IAGP |
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HPO |
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MIM:614963 ORPHA:179494 |
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:231720 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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G |
LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:95494 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:2965 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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G |
OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:95494 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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PCSK1 |
proprotein convertase subtilisin/kexin type 1 |
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IAGP |
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HPO |
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ORPHA:71528 |
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
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G |
PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
POMC |
proopiomelanocortin |
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IAGP |
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HPO |
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ORPHA:71526 |
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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G |
POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:95494 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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G |
POU3F4 |
POU class 3 homeobox 4 |
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IAGP |
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HPO |
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ORPHA:1435 |
NCBI chr X:83,508,290...83,512,127
Ensembl chr X:83,508,290...83,512,127
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G |
PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 ORPHA:90695 ORPHA:95494 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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G |
RBM28 |
RNA binding motif protein 28 |
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IAGP |
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HPO |
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ORPHA:157954 |
NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
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G |
SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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G |
SMO |
smoothened, frizzled class receptor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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G |
SOX3 |
SRY-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:90695 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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G |
TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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MIM:602152 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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G |
TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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G |
TRHR |
thyrotropin releasing hormone receptor |
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IAGP |
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HPO |
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ORPHA:99832 |
NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
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G |
TSHB |
thyroid stimulating hormone subunit beta |
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IAGP |
ClinVar Annotator: match by term: Secondary hypothyroidism ClinVar Annotator: match by term: Pituitary hypothyroidism |
ClinVar HPO |
PMID:8636437 PMID:9589689 PMID:12364478 PMID:15297803 PMID:22606512 PMID:25741868 PMID:27362444 PMID:28492532 PMID:31166470 More...
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ORPHA:90674 |
NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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G |
AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
|
HPO |
|
ORPHA:963 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
|
HPO |
|
ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
|
HPO |
|
ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
|
IAGP |
|
HPO |
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ORPHA:276152 ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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MIM:102200 ORPHA:963 ORPHA:99725 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:276152 ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
LRP2 |
LDL receptor related protein 2 |
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IAGP |
ClinVar Annotator: match by term: Pituitary prolactin cell adenoma |
ClinVar |
PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532 |
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NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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MIM:131100 ORPHA:652 ORPHA:97279 ORPHA:99725 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
YY1 |
YY1 transcription factor |
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IAGP |
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HPO |
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ORPHA:97279 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:79443 ORPHA:79444 ORPHA:94089 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
STX16 |
syntaxin 16 |
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IAGP |
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HPO |
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ORPHA:94089 |
NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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