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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormality of the anterior pituitary
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Accession:HP:0011747 term browser browse the term
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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Abnormal prolactin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP HPO MIM:301077 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO MIM:615841 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685
JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO MIM:615842 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119
JBrowse link
Adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO MIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1501 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:25741868 NCBI chr16:88,731,180...88,741,425 JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:25741868 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G POMC proopiomelanocortin IAGP HPO MIM:609734 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 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 More... NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
JBrowse link
G TBX19 T-box transcription factor 19 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 More... MIM:201400 NCBI chr 1:168,280,877...168,314,426
Ensembl chr 1:168,280,877...168,314,426
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1501 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1501 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488
JBrowse link
Adrenocorticotropic hormone excess term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO MIM:613743 ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 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
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP HPO ORPHA:90791 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
JBrowse link
G MCM4 minichromosome maintenance complex component 4 IAGP HPO MIM:609981 NCBI chr 8:47,960,941...47,978,160
Ensembl chr 8:47,960,185...47,978,160
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 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
JBrowse link
Anterior hypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO ORPHA:869 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864
JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO MIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:280195 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:280195 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:280195 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:280195 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:181 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP HPO ORPHA:181 NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298
JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:280195 ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:280195 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:280195 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:280195 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP HPO ORPHA:869 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO MIM:221750 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:480 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:480 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G NDNF neuron derived neurotrophic factor IAGP HPO ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:280195 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127
JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:280195 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:480 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SEMA3A semaphorin 3A IAGP HPO ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO MIM:147250 ORPHA:280195 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:280195 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:280195 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:280195 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:602152 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:869 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:280195 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
Anterior pituitary agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO MIM:620303 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO MIM:157170 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
Anterior pituitary dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127
JBrowse link
Anterior pituitary hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO MIM:615926 ORPHA:3157 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
JBrowse link
G DMXL2 Dmx like 2 IAGP HPO MIM:616113 ORPHA:453533 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:3157 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
JBrowse link
G GH1 growth hormone 1 IAGP HPO MIM:173100 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP HPO MIM:618157 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 MIM:615849 ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO 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
JBrowse link
G HID1 HID1 domain containing IAGP HPO MIM:619983 NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166
JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO MIM:221750 ORPHA:226307 ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:563612 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:3157 ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO MIM:215470 MIM:275400 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO MIM:613038 ORPHA:226307 ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:3157 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP HPO MIM:618160 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239
JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO MIM:620303 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO MIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
JBrowse link
G SLC30A7 solute carrier family 30 member 7 IAGP HPO MIM:620501 NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:177907 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO MIM:206900 ORPHA:3157 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:3157 ORPHA:67045 ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO MIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO ORPHA:563612 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678
JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Decreased growth hormone responses to growth hormone-releasing hormone challenge term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin IAGP HPO MIM:609734 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
Decreased response to growth hormone stimulation test term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO MIM:615286 ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ClinVar Annotator: match by term: Growth hormone deficiency HPO
ClinVar
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... MIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO MIM:203800 ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO MIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP HPO ORPHA:280679 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077
JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:614732 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO MIM:614114 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
JBrowse link
G CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO MIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO 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
JBrowse link
G CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO 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
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO 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
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO MIM:300148 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:216100 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G FANCF FA complementation group F IAGP HPO MIM:603467 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1263 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
JBrowse link
G FOXH1 forkhead box H1 IAGP HPO 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
JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO 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
JBrowse link
G GH-LCR growth hormone locus control region 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 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 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 More... MIM:173100 MIM:612781 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP HPO MIM:618157 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254
JBrowse link
G GHSR growth hormone secretagogue receptor IAGP HPO MIM:615925 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO 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
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO MIM:616835 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G GRB10 growth factor receptor bound protein 10 IAGP HPO ORPHA:96182 NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO MIM:618922 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:180860 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO MIM:182230 ORPHA:226307 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616007 ORPHA:436174 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:180860 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO MIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G KATNIP katanin interacting protein IAGP HPO MIM:616784 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KIAA0753 KIAA0753 IAGP HPO MIM:619476 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO ORPHA:319182 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LEPR leptin receptor IAGP HPO MIM:614963 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO MIM:221750 ORPHA:226307 ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO MIM:615280 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO MIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO MIM:176270
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO ORPHA:79323 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789
JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO MIM:615577 ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO MIM:610978 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP HPO MIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO ORPHA:71528 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO MIM:180500 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
JBrowse link
G PLN phospholamban IAGP ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO MIM:275400 ORPHA:3363 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO MIM:618336 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP HPO MIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848
JBrowse link
G POMC proopiomelanocortin IAGP HPO MIM:609734 ORPHA:71526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127
JBrowse link
G PREPL prolyl endopeptidase like IAGP HPO MIM:616224 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G PTCH1 patched 1 IAGP HPO 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
JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO MIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO MIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO MIM:617784 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 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
JBrowse link
G RRAS2 RAS related 2 IAGP HPO MIM:618624 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO 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
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 ORPHA:94065 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO 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
JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO MIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO MIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:177907 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO MIM:615866 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO MIM:300123 ORPHA:67045 ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO ORPHA:324737 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO MIM:245590 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO 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
JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO MIM:241410 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
JBrowse link
G TBX2 T-box transcription factor 2 IAGP HPO MIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G THOC2 THO complex subunit 2 IAGP HPO ORPHA:457240 NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO MIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:602152 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:604292 ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO MIM:216550 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO MIM:220210 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO MIM:618347 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO MIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325
JBrowse link
G ZNF462 zinc finger protein 462 IAGP HPO ORPHA:502430 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634
JBrowse link
Ectopic anterior pituitary gland term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN1 axin 1 IAGP HPO MIM:620558 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
Elevated circulating follicle stimulating hormone level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP HPO MIM:300068 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO MIM:609441 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP HPO MIM:618723 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP HPO MIM:619203 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543
JBrowse link
G CBX2 chromobox 2 IAGP HPO MIM:613080 NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983
JBrowse link
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP HPO MIM:614129 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242
JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein IAGP HPO MIM:602668 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922
JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:90796 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO MIM:273250 ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
JBrowse link
G DIAPH2 diaphanous related formin 2 IAGP HPO MIM:300511 NCBI chr  X:96,684,842...97,604,997
Ensembl chr  X:96,684,712...97,604,997
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:616946 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ESR2 estrogen receptor 2 IAGP HPO MIM:618187 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FANCM FA complementation group M IAGP HPO MIM:618086 MIM:618096 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor IAGP HPO MIM:612310 NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO MIM:620103 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G FOXL2 forkhead box L2 IAGP HPO ORPHA:572333 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP HPO MIM:301077 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583
JBrowse link
G GDF9 growth differentiation factor 9 IAGP HPO MIM:618014 NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884
JBrowse link
G HFM1 helicase for meiosis 1 IAGP HPO MIM:615724 NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856
JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO MIM:620548 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990
JBrowse link
G KISS1R KISS1 receptor IAGP HPO MIM:176400 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
JBrowse link
G LHB luteinizing hormone subunit beta IAGP HPO MIM:228300 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor IAGP HPO MIM:612885 NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977
JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP HPO MIM:616185 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162
JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO MIM:620686 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO MIM:618117 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G MSH4 mutS homolog 4 IAGP HPO MIM:619938 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
JBrowse link
G MSH5 mutS homolog 5 IAGP HPO MIM:617442 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676
JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO MIM:612964 MIM:612965 ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO MIM:617253 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO MIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO MIM:614324 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO MIM:619949 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008
JBrowse link
G SLC30A7 solute carrier family 30 member 7 IAGP HPO MIM:620501 NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260
JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO MIM:617690 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO MIM:619665 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
JBrowse link
G SRY sex determining region Y IAGP HPO MIM:400044 MIM:400045 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO MIM:615723 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387
JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO MIM:615841 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685
JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:620311 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289
JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
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
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO MIM:619146 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO MIM:615842 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119
JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO MIM:619834 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
JBrowse link
Elevated circulating growth hormone concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:102200 ORPHA:2965 ORPHA:963 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO MIM:610755 ORPHA:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:174800 ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO MIM:300942 MIM:300943 ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G IGF1 insulin like growth factor 1 IAGP HPO MIM:608747 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:79644 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 ORPHA:2965 ORPHA:652 ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:160980 ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
Elevated circulating luteinizing hormone level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP HPO MIM:300068 ORPHA:90797 ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO MIM:609441 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP HPO MIM:619203 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543
JBrowse link
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP HPO MIM:614129 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242
JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO MIM:250790 ORPHA:90796 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO MIM:273250 ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
JBrowse link
G DIAPH2 diaphanous related formin 2 IAGP HPO MIM:300511 NCBI chr  X:96,684,842...97,604,997
Ensembl chr  X:96,684,712...97,604,997
JBrowse link
G ESR2 estrogen receptor 2 IAGP HPO MIM:618187 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FANCM FA complementation group M IAGP HPO MIM:618086 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor IAGP HPO MIM:612310 NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643
JBrowse link
G FOXL2 forkhead box L2 IAGP HPO ORPHA:572333 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO MIM:229070 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP HPO MIM:301077 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583
JBrowse link
G GDF9 growth differentiation factor 9 IAGP HPO MIM:618014 NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884
JBrowse link
G HFM1 helicase for meiosis 1 IAGP HPO MIM:615724 NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856
JBrowse link
G KISS1R KISS1 receptor IAGP HPO MIM:176400 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor IAGP HPO MIM:612885 NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO MIM:618117 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G MSH4 mutS homolog 4 IAGP HPO MIM:619938 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO MIM:612964 MIM:612965 ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO MIM:617253 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO MIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO MIM:614324 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO MIM:617690 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO MIM:619665 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
JBrowse link
G SRY sex determining region Y IAGP HPO MIM:400044 MIM:400045 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO MIM:615723 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387
JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289
JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO MIM:619146 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO MIM:619834 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
JBrowse link
Gonadotropin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO MIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:615465 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Gonadotropin deficiency ClinVar PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 More... NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO MIM:221750 ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO MIM:610978 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO ORPHA:71528 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
JBrowse link
G POMC proopiomelanocortin IAGP HPO MIM:609734 ORPHA:71526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
Hypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
G APOA5 apolipoprotein A5 IAGP HPO MIM:145750 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP HPO MIM:619013 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:615849 ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO MIM:300942 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:98813 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G MANF mesencephalic astrocyte derived neurotrophic factor IAGP HPO MIM:620651 NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397
JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO ORPHA:98813 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO MIM:613038 ORPHA:226307 ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G PUS1 pseudouridine synthase 1 IAGP HPO MIM:600462 NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896
JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Hypopituitarism ClinVar PMID:25741868 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G TBC1D32 TBC1 domain family member 32 IAGP ClinVar Annotator: match by term: Hypopituitarism ClinVar PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:140976 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO MIM:603671 ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Increased circulating gonadotropin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP15 bone morphogenetic protein 15 IAGP HPO ORPHA:243 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641
JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP HPO ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO ORPHA:399805 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,369,962
JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO ORPHA:399805 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:399805 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO ORPHA:399805 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
JBrowse link
G DHH desert hedgehog signaling molecule IAGP HPO ORPHA:168563 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801
JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO ORPHA:399805 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720
JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO ORPHA:399805 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758
JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:399805 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FBXO43 F-box protein 43 IAGP HPO ORPHA:399805 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817
JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO MIM:311360 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125
JBrowse link
G FOXL2 forkhead box L2 IAGP HPO MIM:110100 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO MIM:233300 ORPHA:243 ORPHA:64739 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:233400 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO ORPHA:399805 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384
JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor IAGP HPO MIM:238320 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO ORPHA:399805 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294
JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP HPO ORPHA:399805 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G MSH4 mutS homolog 4 IAGP HPO ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
JBrowse link
G MSH5 mutS homolog 5 IAGP HPO ORPHA:399805 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676
JBrowse link
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO ORPHA:399805 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730
JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:243 ORPHA:251510 ORPHA:399805 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO ORPHA:399805 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464
JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO ORPHA:399805 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704
JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO ORPHA:163976 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
JBrowse link
G RNF212 ring finger protein 212 IAGP HPO ORPHA:399805 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564
JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO ORPHA:399805 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781
JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO ORPHA:399805 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008
JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO ORPHA:399805 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO ORPHA:399805 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228
JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO ORPHA:399805 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387
JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO ORPHA:399805 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835
JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO ORPHA:399805 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472
JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO ORPHA:399805 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685
JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO ORPHA:399805 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667
JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP HPO ORPHA:399805 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620
JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO ORPHA:399805 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229
JBrowse link
G TEX11 testis expressed 11 IAGP HPO ORPHA:399805 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711
JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP HPO ORPHA:399805 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055
JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO ORPHA:399805 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008
JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289
JBrowse link
G VDR vitamin D receptor 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
JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 ORPHA:347 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:399805 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO ORPHA:399805 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119
JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
JBrowse link
Increased circulating prolactin concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:102200 ORPHA:963 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DDC dopa decarboxylase IAGP HPO ORPHA:35708 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405
JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:174800 ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO MIM:300942 ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO MIM:617675 ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRLR prolactin receptor IAGP HPO MIM:615555 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487
JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
G TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP HPO ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
JBrowse link
Neoplasm of the anterior pituitary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G COQ6 coenzyme Q6, monooxygenase IAGP HPO ORPHA:93921 NCBI chr14:73,949,918...73,963,670
Ensembl chr14:73,949,926...73,963,670
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:93921 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 ORPHA:93921 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:2495 ORPHA:93921 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
Panhypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDON cell adhesion associated, oncogene regulated IAGP HPO 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
JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO 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
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO 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
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO 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
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO 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
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FOXH1 forkhead box H1 IAGP HPO 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
JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO 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
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO 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
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO MIM:618922 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G KATNIP katanin interacting protein IAGP HPO MIM:616784 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO 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
JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO MIM:262600 ORPHA:226307 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G PTCH1 patched 1 IAGP HPO 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
JBrowse link
G RNF113A ring finger protein 113A IAGP HPO MIM:300953 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO 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
JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO 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
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO MIM:300123 MIM:312000 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO 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
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:280200 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO 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
JBrowse link
G ZIC2 Zic family member 2 IAGP HPO 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
JBrowse link
Pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:102200 MIM:219090 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP HPO ORPHA:189427 NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CDH23 cadherin related 23 IAGP HPO MIM:617540 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO MIM:610755 ORPHA:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:174800 ORPHA:189427 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO MIM:300942 MIM:300943 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:163634 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:163634 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO ORPHA:189427 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:160980 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO MIM:219090 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
JBrowse link
Pituitary carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Pituitary carcinoma ClinVar PMID:7628019 PMID:15256438 PMID:16144131 PMID:16619239 PMID:17557300 More... NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
Pituitary corticotropic cell adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606
JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
JBrowse link
Pituitary gonadotropic cell adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
Pituitary growth hormone cell adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:102200 ORPHA:963 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP HPO ORPHA:730 NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:730 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G BICC1 BicC family RNA binding protein 1 IAGP HPO ORPHA:730 NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP HPO ORPHA:730 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800
JBrowse link
G GANAB glucosidase II alpha subunit IAGP HPO ORPHA:730 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:730 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP HPO ORPHA:730 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP HPO ORPHA:730 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
Pituitary hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO MIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G HID1 HID1 domain containing IAGP HPO MIM:619983 NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166
JBrowse link
G LEP leptin IAGP HPO ORPHA:66628 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor IAGP HPO MIM:614963 ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO ORPHA:71528 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G POMC proopiomelanocortin IAGP HPO ORPHA:71526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:602152 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
G TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
JBrowse link
G TSHB thyroid stimulating hormone subunit beta 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 More... ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
JBrowse link
Pituitary macroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
Pituitary null cell adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
Pituitary prolactin cell adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:102200 ORPHA:963 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G LRP2 LDL receptor related protein 2 IAGP ClinVar Annotator: match by term: Pituitary prolactin cell adenoma ClinVar PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534
JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 ORPHA:652 ORPHA:97279 ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:97279 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
Pituitary resistance to thyroid hormone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
JBrowse link
Pituitary thyrotropic cell adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
Reduced circulating prolactin concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759