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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:Puberty and gonadal disorders
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Accession:HP:0008373 term browser browse the term
Synonyms:alt_id: HP:0000827
 xref: UMLS:C4024685

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Puberty and gonadal disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79320 NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553 		JBrowse link
G H ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G H HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
Absence of pubertal development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G H 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 H DCHS1 dachsous cadherin-related 1 IAGP HPO ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G H DHX37 DEAH-box helicase 37 IAGP HPO OMIM:273250 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G H DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G H 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 H FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G H GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G H HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G H IL17RD interleukin 17 receptor D IAGP HPO OMIM:615267 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G H KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G H KISS1R KISS1 receptor IAGP HPO OMIM:614837 ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO ORPHA:398069 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H NHLH2 nescient helix-loop-helix 2 IAGP HPO OMIM:619755 ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G H NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO OMIM:300200 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G H NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G H NUP107 nucleoporin 107 IAGP HPO OMIM:618078 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G H PROK2 prokineticin 2 IAGP HPO OMIM:610628 ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G H PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G H RNF216 ring finger protein 216 IAGP HPO OMIM:212840 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G H SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G H SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G H TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G H TACR3 tachykinin receptor 3 IAGP HPO OMIM:614840 ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G H WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
Absence of secondary sex characteristics term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G H 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 H 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 H 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 H 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 H DMRT3 doublesex and mab-3 related transcription factor 3 IAGP HPO ORPHA:251510 NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732 		JBrowse link
G H DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G H 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 H FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H 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 H 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 H 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 H GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G H GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G H 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 H HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G H KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G H KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H 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 H LEPR leptin receptor IAGP HPO ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G H 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 H 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 H NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G H 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 H NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G H NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G H 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 H 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 H 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 H PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G H PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G H 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 H 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 H 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 H SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G H SRY sex determining region Y IAGP HPO OMIM:400044 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G H TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G H TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G H 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 H WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G H 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 H 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 H 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
Adrenogenital syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO OMIM:103900 OMIM:202010 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G H CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO OMIM:202110 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G H CYP21A2 cytochrome P450 family 21 subfamily A member 2 IAGP HPO OMIM:201910 NCBI chr 6:32,038,415...32,041,644
Ensembl chr 6:32,038,327...32,041,644 		JBrowse link
G H STAR steroidogenic acute regulatory protein IAGP HPO OMIM:201710 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
Androgen insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AR androgen receptor IAGP HPO ORPHA:95706 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G H LHB luteinizing hormone subunit beta IAGP HPO OMIM:228300 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G H MAMLD1 mastermind like domain containing 1 IAGP HPO ORPHA:95706 NCBI chr  X:150,361,572...150,514,173
Ensembl chr  X:150,361,422...150,514,178 		JBrowse link
G H PMFBP1 polyamine modulated factor 1 binding protein 1 IAGP HPO ORPHA:529970 NCBI chr16:72,116,657...72,249,949
Ensembl chr16:72,112,157...72,176,878 		JBrowse link
G H SUN5 Sad1 and UNC84 domain containing 5 IAGP HPO ORPHA:529970 NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433 		JBrowse link
Delayed menarche term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G H CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G H DNM1L dynamin 1 like IAGP HPO ORPHA:330050 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G H 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 H GHR growth hormone receptor IAGP HPO OMIM:262500 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G H KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G H LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G H LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G H MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G H NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G H PEX10 peroxisomal biogenesis factor 10 IAGP HPO OMIM:614871 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G H PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G H RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G H RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G H RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G H RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G H RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G H SLC25A13 solute carrier family 25 member 13 IAGP HPO ORPHA:247585 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G H SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G H SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G H SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G H STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G H ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Delayed puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H 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 H ALDOA aldolase, fructose-bisphosphate A IAGP HPO OMIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G H ALX4 ALX homeobox 4 IAGP HPO ORPHA:52022 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G H ANOS1 anosmin 1 IAGP ClinVar Annotator: match by term: Delayed puberty HPO
ClinVar		 PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 More... ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G H AR androgen receptor IAGP HPO ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G H ATAD3A ATPase family AAA domain containing 3A IAGP HPO ORPHA:496790 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G H ATM ATM serine/threonine kinase IAGP HPO OMIM:208900 ORPHA:100 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102 		JBrowse link
G H BMP15 bone morphogenetic protein 15 IAGP HPO OMIM:300510 ORPHA:243 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G H 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 H 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 H 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 H BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G H BTK Bruton tyrosine kinase IAGP HPO OMIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G H CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO OMIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G H 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 H 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 H CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:95496 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G H CENPT centromere protein T IAGP HPO OMIM:618702 NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811 		JBrowse link
G H CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO OMIM:214800 ORPHA:138 ORPHA:432 ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G H CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G H CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G H COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79408 ORPHA:89842 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G H CPE carboxypeptidase E IAGP HPO OMIM:619326 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G H 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 H CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G H CUL4B cullin 4B IAGP HPO OMIM:300354 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G H 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 H 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 H 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 H DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G H DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO ORPHA:3464 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G H 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 H DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G H 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 H DIAPH1 diaphanous related formin 1 IAGP HPO ORPHA:477814 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G H DMRT3 doublesex and mab-3 related transcription factor 3 IAGP HPO ORPHA:251510 NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732 		JBrowse link
G H DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G H DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25741868 PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G H EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO OMIM:300148 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G H EIF5A eukaryotic translation initiation factor 5A IAGP HPO OMIM:619376 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G H ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 IAGP HPO OMIM:615683 ORPHA:401810 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266 		JBrowse link
G H ESR1 estrogen receptor 1 IAGP HPO OMIM:615363 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G H EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:52022 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G H FAM111B FAM111 trypsin like peptidase B IAGP HPO OMIM:615704 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		JBrowse link
G H 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 H FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO OMIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP HPO OMIM:615270 ORPHA:432 ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO OMIM:612702 ORPHA:432 ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Delayed puberty ClinVar
HPO		 PMID:12627230 PMID:16606836 PMID:17200176 PMID:25636053 PMID:25741868 More... OMIM:147950 ORPHA:432 ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G H FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO OMIM:615271 ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G H 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 H 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 H FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G H G6PC1 glucose-6-phosphatase catalytic subunit 1 IAGP HPO OMIM:232200 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438 		JBrowse link
G H GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G H 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 H GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 ORPHA:77259 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G H GHR growth hormone receptor IAGP HPO ORPHA:314802 ORPHA:633 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G H GHSR growth hormone secretagogue receptor IAGP HPO ORPHA:314811 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G H GLA galactosidase alpha IAGP HPO OMIM:301500 ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G H 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 H GMNN geminin DNA replication inhibitor IAGP HPO OMIM:616835 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G H GNRH1 gonadotropin releasing hormone 1 IAGP HPO OMIM:614841 ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G H GNRHR gonadotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Delayed pubertal growth ClinVar
HPO		 PMID:25636053 ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G H GPR161 G protein-coupled receptor 161 IAGP HPO ORPHA:95496 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667 		JBrowse link
G H 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 H HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G H HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO OMIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G H HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 ORPHA:95494 ORPHA:95496 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G H HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP HPO OMIM:212750 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G H HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO OMIM:212750 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G H HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G H IGFALS insulin like growth factor binding protein acid labile subunit IAGP HPO OMIM:615961 ORPHA:140941 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G H IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Delayed puberty ClinVar
HPO		 PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G H INSR insulin receptor IAGP HPO ORPHA:2297 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G H IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G H IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G H KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G H KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H LEPR leptin receptor IAGP HPO OMIM:614963 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G H LGR4 leucine rich repeat containing G protein-coupled receptor 4 IAGP HPO OMIM:619613 NCBI chr11:27,365,961...27,472,790
Ensembl chr11:27,365,961...27,472,790 		JBrowse link
G H LHB luteinizing hormone subunit beta IAGP HPO OMIM:228300 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G H LHX4 LIM homeobox 4 IAGP HPO ORPHA:95494 ORPHA:95496 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G H LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G H LPIN2 lipin 2 IAGP HPO OMIM:609628 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO OMIM: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 H 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 H MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G H 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 H MKRN3 makorin ring finger protein 3 IAGP HPO OMIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G H MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G H MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G H MRPS22 mitochondrial ribosomal protein S22 IAGP HPO OMIM:618117 ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G H 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 H MSMO1 methylsterol monooxygenase 1 IAGP HPO OMIM:616834 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164 		JBrowse link
G H 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 H 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 H NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G H NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G H NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G H NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G H NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G H NONO non-POU domain containing octamer binding IAGP HPO OMIM:300967 ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G H NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G H NPAP1 nuclear pore associated protein 1 IAGP HPO OMIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G H NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO OMIM:300200 ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G H NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:243 ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G H NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G H 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 H 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 H OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G H 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 H 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 H PGM1 phosphoglucomutase 1 IAGP HPO OMIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G H PHF21A PHD finger protein 21A IAGP HPO ORPHA:52022 NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454 		JBrowse link
G H PHF6 PHD finger protein 6 IAGP HPO OMIM:301900 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G H PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO ORPHA:264580 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G H PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
G H PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO OMIM:275400 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G H POF1B POF1B actin binding protein IAGP HPO OMIM:300604 NCBI chr  X:85,277,396...85,379,665
Ensembl chr  X:85,277,396...85,379,717 		JBrowse link
G H POLR3A RNA polymerase III subunit A IAGP HPO OMIM:607694 ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G H POLR3B RNA polymerase III subunit B IAGP HPO OMIM:607694 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G H POLR3GL RNA polymerase III subunit GL IAGP HPO OMIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848 		JBrowse link
G H 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 H 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 H 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 H 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 H PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO OMIM:616817 ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G H PRDM13 PR/SET domain 13 IAGP HPO OMIM:619761 NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
G H PROK2 prokineticin 2 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G H PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 ORPHA:478 ORPHA:95496 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G H 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 H PSMC3IP PSMC3 interacting protein IAGP HPO OMIM:614324 ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
G H PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G H PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO OMIM:616263 ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G H PUS1 pseudouridine synthase 1 IAGP HPO OMIM:600462 ORPHA:2598 NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896 		JBrowse link
G H PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO OMIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055 		JBrowse link
G H PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO OMIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365 		JBrowse link
G H PYGL glycogen phosphorylase L IAGP HPO ORPHA:369 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483 		JBrowse link
G H RAB18 RAB18, member RAS oncogene family IAGP HPO ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G H RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G H RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G H RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G H RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G H RBM28 RNA binding motif protein 28 IAGP HPO OMIM:612079 ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G H ROBO1 roundabout guidance receptor 1 IAGP HPO ORPHA:95496 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G H RPL10 ribosomal protein L10 IAGP HPO ORPHA:459070 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G H SALL1 spalt like transcription factor 1 IAGP HPO ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G H SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G H SEMA3A semaphorin 3A IAGP ClinVar Annotator: match by term: Delayed puberty HPO
ClinVar		 PMID:25636053 PMID:25741868 PMID:28492532 ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G H 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 H SLC12A3 solute carrier family 12 member 3 IAGP HPO OMIM:263800 ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G H SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G H SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:232220 OMIM:232240 ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G H SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G H SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G H SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G H SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO OMIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804 		JBrowse link
G H SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO OMIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H 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 H SOX11 SRY-box transcription factor 11 IAGP HPO OMIM:615866 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G H 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 H 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 H SPIDR scaffold protein involved in DNA repair IAGP HPO OMIM:619665 ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306 		JBrowse link
G H SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G H SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO OMIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G H 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 H STAT1 signal transducer and activator of transcription 1 IAGP HPO OMIM:614162 ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G H STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G H STAT5B signal transducer and activator of transcription 5B IAGP HPO OMIM:618985 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G H TAC3 tachykinin precursor 3 IAGP ClinVar Annotator: match by term: Pubertal delay
ClinVar Annotator: match by term: Delayed puberty		 ClinVar
HPO		 PMID:25636053 PMID:28492532 PMID:29419413 ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G H TACR3 tachykinin receptor 3 IAGP ClinVar Annotator: match by term: Delayed puberty ClinVar
HPO		 PMID:25636053 ORPHA:432 ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G H TAF13 TATA-box binding protein associated factor 13 IAGP HPO OMIM:617432 NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012 		JBrowse link
G H TBC1D20 TBC1 domain family member 20 IAGP HPO ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G H TBX3 T-box transcription factor 3 IAGP HPO OMIM:181450 ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G H TCF12 transcription factor 12 IAGP HPO OMIM:619718 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281 		JBrowse link
G H TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:131300 ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G H TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G H TRIP4 thyroid hormone receptor interactor 4 IAGP HPO ORPHA:486815 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G H TRMT10A tRNA methyltransferase 10A IAGP HPO OMIM:616033 ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G H USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G H 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 H VPS13B vacuolar protein sorting 13 homolog B IAGP HPO OMIM:216550 ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G H WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 ORPHA:478 ORPHA:95496 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G H WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:3463 ORPHA:411590 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G H 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 H 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 H YARS2 tyrosyl-tRNA synthetase 2 IAGP HPO ORPHA:2598 NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897 		JBrowse link
G H ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G H 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 H ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:90154 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G H ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO OMIM:619834 ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Delayed thelarche term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CENPT centromere protein T IAGP HPO OMIM:618702 NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811 		JBrowse link
G H TRMT10A tRNA methyltransferase 10A IAGP HPO OMIM:616033 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
Early onset of sexual maturation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ELN elastin IAGP HPO OMIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G H MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
Female hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H 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 H AIRE autoimmune regulator IAGP HPO OMIM:240300 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G H ATM ATM serine/threonine kinase IAGP HPO OMIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102 		JBrowse link
G H BMP4 bone morphogenetic protein 4 IAGP HPO OMIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G H 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 H CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G H DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H 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 H GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G H GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G H HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G H KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G H KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G H 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 H NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G H NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G H PRLR prolactin receptor IAGP HPO ORPHA:397685 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G H PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G H PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G H SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G H TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G H TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G H WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G H ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Hypergonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AHSG alpha 2-HS glycoprotein IAGP HPO ORPHA:2850 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
G H ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO OMIM:203800 ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G H AMACR alpha-methylacyl-CoA racemase IAGP HPO OMIM:614307 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G H BMP15 bone morphogenetic protein 15 IAGP HPO OMIM:300510 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G H BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO OMIM:609441 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G H 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 H CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP HPO OMIM:614129 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,531...6,370,242 		JBrowse link
G H COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO OMIM:607426 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G H CTDP1 CTD phosphatase subunit 1 IAGP HPO OMIM:604168 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G H 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 H CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G H CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO OMIM:613546 ORPHA:91 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G H DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO OMIM:241080 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G H DHH desert hedgehog signaling molecule IAGP HPO OMIM:607080 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G H 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 H DMRT3 doublesex and mab-3 related transcription factor 3 IAGP HPO ORPHA:251510 NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732 		JBrowse link
G H FANCA FA complementation group A IAGP HPO OMIM:227650 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G H FANCB FA complementation group B IAGP HPO OMIM:300514 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G H FANCC FA complementation group C IAGP HPO OMIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G H FANCD2 FA complementation group D2 IAGP HPO OMIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G H FANCE FA complementation group E IAGP HPO OMIM:600901 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Hypergonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H 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 H GALK1 galactokinase 1 IAGP HPO ORPHA:79237 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236 		JBrowse link
G H GALT galactose-1-phosphate uridylyltransferase IAGP HPO OMIM:230400 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G H 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 H GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G H ITGB6 integrin subunit beta 6 IAGP HPO ORPHA:2850 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,200,313 		JBrowse link
G H 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 H LEPR leptin receptor IAGP HPO OMIM:614963 ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G H LHCGR luteinizing hormone/choriogonadotropin receptor IAGP ClinVar Annotator: match by term: Primary hypogonadism
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism		 ClinVar
HPO		 PMID:2244890 PMID:7556872 PMID:9851790 PMID:12679452 PMID:25741868 More... OMIM:238320 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G H LIG3 DNA ligase 3 IAGP HPO ORPHA:298 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G H LMNA lamin A/C IAGP HPO OMIM:212112 ORPHA:2229 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G H LSS lanosterol synthase IAGP HPO ORPHA:2850 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G H MANF mesencephalic astrocyte derived neurotrophic factor IAGP HPO OMIM:620651 NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397 		JBrowse link
G H 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 H MGME1 mitochondrial genome maintenance exonuclease 1 IAGP HPO OMIM:615084 ORPHA:352447 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122 		JBrowse link
G H MRE11 MRE11 homolog, double strand break repair nuclease IAGP HPO ORPHA:251347 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G H MRPS7 mitochondrial ribosomal protein S7 IAGP HPO OMIM:617872 NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376 		JBrowse link
G H 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 H NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G H NUP107 nucleoporin 107 IAGP HPO OMIM:618078 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G H PMM2 phosphomannomutase 2 IAGP HPO OMIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G H 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 H POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:157640 ORPHA:298 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G H POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:88637 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G H POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:88637 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G H POLR3B RNA polymerase III subunit B IAGP HPO ORPHA:88637 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G H PRORP protein only RNase P catalytic subunit IAGP HPO OMIM:619737 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G H RIN2 Ras and Rab interactor 2 IAGP HPO OMIM:613075 ORPHA:217335 NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457 		JBrowse link
G H RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:298 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G H SAMD9 sterile alpha motif domain containing 9 IAGP HPO OMIM:617053 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G H SCP2 sterol carrier protein 2 IAGP HPO OMIM:613724 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698 		JBrowse link
G H SIL1 SIL1 nucleotide exchange factor IAGP HPO OMIM:248800 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G H SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G H 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 H SQSTM1 sequestosome 1 IAGP HPO OMIM:617145 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G H SRD5A2 steroid 5 alpha-reductase 2 IAGP ClinVar Annotator: match by term: Hypergonadotropic hypogonadism ClinVar PMID:8110760 PMID:12699446 PMID:16181229 PMID:17609295 PMID:21147889 More... NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938 		JBrowse link
G H SRY sex determining region Y IAGP HPO OMIM:400044 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G H STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Hypergonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G H STON1-GTF2A1L STON1-GTF2A1L readthrough IAGP ClinVar Annotator: match by term: Primary hypogonadism
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism		 ClinVar PMID:2244890 PMID:7556872 PMID:9851790 PMID:12679452 PMID:25741868 More... NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517 		JBrowse link
G H TWNK twinkle mtDNA helicase IAGP HPO OMIM:271245 OMIM:616138 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G H TYMP thymidine phosphorylase IAGP HPO ORPHA:298 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G H 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 H 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 H 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 H ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G H 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
Hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO ORPHA:791 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G H ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO OMIM:300100 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G H AGBL5 AGBL carboxypeptidase 5 IAGP HPO ORPHA:791 NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622 		JBrowse link
G H AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:791 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G H AHR aryl hydrocarbon receptor IAGP HPO ORPHA:791 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G H 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 H ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO OMIM:608540 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G H ALX4 ALX homeobox 4 IAGP HPO ORPHA:228390 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G H AMACR alpha-methylacyl-CoA racemase IAGP HPO ORPHA:79095 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G H ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G H ANK1 ankyrin 1 IAGP HPO ORPHA:251066 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G H ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G H AR androgen receptor IAGP HPO OMIM:312300 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G H ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 IAGP HPO ORPHA:791 NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485 		JBrowse link
G H ARL2BP ADP ribosylation factor like GTPase 2 binding protein IAGP HPO ORPHA:791 NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635 		JBrowse link
G H ARL3 ADP ribosylation factor like GTPase 3 IAGP HPO ORPHA:791 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G H ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO OMIM:209900 ORPHA:110 ORPHA:791 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G H ARSL arylsulfatase L IAGP HPO OMIM:302950 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G H ATP5F1A ATP synthase F1 subunit alpha IAGP HPO ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G H ATP5F1D ATP synthase F1 subunit delta IAGP HPO ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G H ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G H ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G H ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 IAGP HPO ORPHA:254913 NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867 		JBrowse link
G H ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G H ATRX ATRX chromatin remodeler IAGP HPO OMIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G H BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G H BBS1 Bardet-Biedl syndrome 1 IAGP HPO OMIM:209900 ORPHA:110 ORPHA:791 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G H BBS10 Bardet-Biedl syndrome 10 IAGP HPO OMIM:615987 ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G H BBS12 Bardet-Biedl syndrome 12 IAGP HPO OMIM:615989 ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G H BBS2 Bardet-Biedl syndrome 2 IAGP HPO OMIM:615981 ORPHA:110 ORPHA:791 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G H BBS4 Bardet-Biedl syndrome 4 IAGP HPO OMIM:615982 ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
G H BBS5 Bardet-Biedl syndrome 5 IAGP HPO OMIM:615983 ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G H BBS7 Bardet-Biedl syndrome 7 IAGP HPO OMIM:615984 ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G H BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G H BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO OMIM:262000 ORPHA:123 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G H BEST1 bestrophin 1 IAGP HPO ORPHA:791 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G H BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:163950 ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G H BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G H BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G H BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G H CA4 carbonic anhydrase 4 IAGP HPO ORPHA:791 NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899 		JBrowse link
G H CAMKMT calmodulin-lysine N-methyltransferase IAGP HPO ORPHA:163693 NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592 		JBrowse link
G H CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G H CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:791 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G H CCDC28B coiled-coil domain containing 28B IAGP HPO OMIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453 		JBrowse link
G H 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 H CDHR1 cadherin related family member 1 IAGP HPO ORPHA:791 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621 		JBrowse link
G H CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO ORPHA:85173 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G H CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G H CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G H CERKL ceramide kinase like IAGP HPO ORPHA:791 NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665 		JBrowse link
G H CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 ORPHA:791 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G H CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G H CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G H CKAP2L cytoskeleton associated protein 2 like IAGP ClinVar Annotator: match by term: Hypogonadism ClinVar NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G H CLRN1 clarin 1 IAGP HPO ORPHA:791 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727 		JBrowse link
G H CNBP CCHC-type zinc finger nucleic acid binding protein IAGP HPO OMIM:602668 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922 		JBrowse link
G H CNGA1 cyclic nucleotide gated channel subunit alpha 1 IAGP HPO ORPHA:791 NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681 		JBrowse link
G H CNGB1 cyclic nucleotide gated channel subunit beta 1 IAGP HPO ORPHA:791 NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128 		JBrowse link
G H CRB1 crumbs cell polarity complex component 1 IAGP HPO ORPHA:791 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G H CRX cone-rod homeobox IAGP HPO ORPHA:791 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G H 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 H CUL4B cullin 4B IAGP HPO OMIM:300354 ORPHA:85293 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G H DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO ORPHA:3464 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G H DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G H DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:791 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G H DHX38 DEAH-box helicase 38 IAGP HPO ORPHA:791 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912 		JBrowse link
G H DMPK DM1 protein kinase IAGP HPO OMIM:160900 NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,709...45,782,552 		JBrowse link
G H DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G H ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G H ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO OMIM:601675 ORPHA:1466 ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G H ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO OMIM:610651 ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G H ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G H ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G H ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G H ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G H EYS eyes shut homolog IAGP HPO ORPHA:791 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G H FAM161A FAM161 centrosomal protein A IAGP HPO ORPHA:791 NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143 		JBrowse link
G H FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G H FANCB FA complementation group B IAGP HPO OMIM:300514 ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G H FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G H FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G H FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G H FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G H FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G H FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G H FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G H FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G H FEZF1 FEZ family zinc finger 1 IAGP HPO OMIM:616030 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP HPO OMIM:615270 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G H FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:261483 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G H FSCN2 fascin actin-bundling protein 2, retinal IAGP HPO ORPHA:791 NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130 		JBrowse link
G H FSHB follicle stimulating hormone subunit beta IAGP HPO OMIM:229070 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G H GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G H GLI2 GLI family zinc finger 2 IAGP HPO OMIM:615849 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G H GNAS GNAS complex locus IAGP HPO OMIM:103580 OMIM:612462 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G H GUCA1B guanylate cyclase activator 1B IAGP HPO ORPHA:791 NCBI chr 6:42,183,284...42,194,956
Ensembl chr 6:42,183,284...42,194,956 		JBrowse link
G H HAMP hepcidin antimicrobial peptide IAGP HPO OMIM:613313 ORPHA:79230 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G H HBB hemoglobin subunit beta IAGP HPO ORPHA:231222 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G H HDAC8 histone deacetylase 8 IAGP HPO OMIM:300882 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G H HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO ORPHA:791 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G H HJV hemojuvelin BMP co-receptor IAGP HPO ORPHA:79230 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G H HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G H IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IAGP HPO ORPHA:791 NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945 		JBrowse link
G H IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta IAGP HPO ORPHA:791 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,395...2,664,219 		JBrowse link
G H IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO OMIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G H IFT140 intraflagellar transport 140 IAGP HPO ORPHA:791 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G H IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 ORPHA:791 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G H IFT27 intraflagellar transport 27 IAGP HPO OMIM:615996 ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G H IFT74 intraflagellar transport 74 IAGP HPO OMIM:617119 ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G H IFT88 intraflagellar transport 88 IAGP HPO ORPHA:791 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G H IGF1 insulin like growth factor 1 IAGP HPO ORPHA:73272 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G H IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Hypogonadism ClinVar
HPO		 PMID:25741868 OMIM:615267 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G H IMPDH1 inosine monophosphate dehydrogenase 1 IAGP HPO ORPHA:791 NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986 		JBrowse link
G H IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP HPO ORPHA:791 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G H IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP HPO ORPHA:791 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G H INPP5K inositol polyphosphate-5-phosphatase K IAGP HPO ORPHA:559 NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742 		JBrowse link
G H KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G H KIAA1549 KIAA1549 IAGP HPO ORPHA:791 NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389 		JBrowse link
G H KIZ kizuna centrosomal protein IAGP HPO ORPHA:791 NCBI chr20:21,125,975...21,246,622
Ensembl chr20:21,125,983...21,246,622 		JBrowse link
G H KLHL7 kelch like family member 7 IAGP HPO ORPHA:791 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G H LEP leptin IAGP HPO OMIM:614962 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G H LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G H LOC126806689 BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443 IAGP ClinVar Annotator: match by term: Hypogonadism ClinVar PMID:25741868 NCBI chr 3:57,097,216...57,098,415 JBrowse link
G H LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:791 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120 		JBrowse link
G H LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808 		JBrowse link
G H LZTFL1 leucine zipper transcription factor like 1 IAGP HPO OMIM:615994 ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G H MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO OMIM:615547 ORPHA:398069 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H MAK male germ cell associated kinase IAGP HPO ORPHA:791 NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553 		JBrowse link
G H MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO OMIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G H MDM2 MDM2 proto-oncogene IAGP HPO OMIM:618681 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G H 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 H MERTK MER proto-oncogene, tyrosine kinase IAGP HPO ORPHA:791 NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561 		JBrowse link
G H MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G H MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G H MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G H MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:254913 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G H MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G H MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G H NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G H NEK2 NIMA related kinase 2 IAGP HPO ORPHA:791 NCBI chr 1:211,658,256...211,675,621
Ensembl chr 1:211,658,657...211,675,630 		JBrowse link
G H NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G H NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP HPO ORPHA:791 NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259 		JBrowse link
G H NRL neural retina leucine zipper IAGP HPO ORPHA:791 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G H OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:791 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G H OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G H PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G H PCARE photoreceptor cilium actin regulator IAGP HPO ORPHA:791 NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523 		JBrowse link
G H PDE4D phosphodiesterase 4D IAGP HPO ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G H PDE6A phosphodiesterase 6A IAGP HPO ORPHA:791 NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793 		JBrowse link
G H PDE6B phosphodiesterase 6B IAGP HPO ORPHA:791 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782 		JBrowse link
G H PDE6G phosphodiesterase 6G IAGP HPO ORPHA:791 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112 		JBrowse link
G H PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G H PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G H PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G H PHF6 PHD finger protein 6 IAGP HPO ORPHA:127 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G H PHGDH phosphoglycerate dehydrogenase IAGP HPO ORPHA:79351 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G H PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:1173 ORPHA:3363 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G H POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:85173 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G H POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:791 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G H PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B IAGP HPO ORPHA:163693 NCBI chr 2:44,168,875...44,246,928
Ensembl chr 2:44,167,969...44,244,384 		JBrowse link
G H PRCD photoreceptor disc component IAGP HPO ORPHA:791 NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578 		JBrowse link
G H PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G H PREPL prolyl endopeptidase like IAGP HPO ORPHA:163693 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862 		JBrowse link
G H PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO OMIM:101800 ORPHA:950 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G H PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G H PROM1 prominin 1 IAGP HPO ORPHA:791 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G H PROP1 PROP paired-like homeobox 1 IAGP HPO OMIM:262600 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G H PRPF3 pre-mRNA processing factor 3 IAGP HPO ORPHA:791 NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233 		JBrowse link
G H PRPF31 pre-mRNA processing factor 31 IAGP HPO ORPHA:791 NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719 		JBrowse link
G H PRPF4 pre-mRNA splicing tri-snRNP complex factor PRPF4 IAGP HPO ORPHA:791 NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009 		JBrowse link
G H PRPF6 pre-mRNA processing factor 6 IAGP HPO ORPHA:791 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100 		JBrowse link
G H PRPF8 pre-mRNA processing factor 8 IAGP HPO ORPHA:791 NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867 		JBrowse link
G H PRPH2 peripherin 2 IAGP HPO ORPHA:791 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G H PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G H PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G H RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G H RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G H RBP3 retinol binding protein 3 IAGP HPO ORPHA:791 NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881 		JBrowse link
G H RDH12 retinol dehydrogenase 12 IAGP HPO ORPHA:791 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G H RECQL4 RecQ like helicase 4 IAGP HPO OMIM:268400 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G H REEP6 receptor accessory protein 6 IAGP HPO ORPHA:791 NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927 		JBrowse link
G H RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G H RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G H RGR retinal G protein coupled receptor IAGP HPO ORPHA:791 NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960 		JBrowse link
G H RHO rhodopsin IAGP HPO ORPHA:791 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G H RLBP1 retinaldehyde binding protein 1 IAGP HPO ORPHA:791 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614 		JBrowse link
G H RNF216 ring finger protein 216 IAGP HPO ORPHA:1173 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G H ROM1 retinal outer segment membrane protein 1 IAGP HPO ORPHA:791 NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116 		JBrowse link
G H RP1 RP1 axonemal microtubule associated IAGP HPO ORPHA:791 NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720 		JBrowse link
G H RP1L1 RP1 like 1 IAGP HPO ORPHA:791 NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		JBrowse link
G H RP2 RP2 activator of ARL3 GTPase IAGP HPO ORPHA:791 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G H RP9 RP9 pre-mRNA splicing factor IAGP HPO ORPHA:791 NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405 		JBrowse link
G H RPE65 retinoid isomerohydrolase RPE65 IAGP HPO ORPHA:791 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954 		JBrowse link
G H RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:791 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G H SAG S-antigen visual arrestin IAGP HPO ORPHA:791 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
G H SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 ORPHA:791 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G H SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G H SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO OMIM:615993 ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G H SEMA3A semaphorin 3A IAGP HPO OMIM:614897 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G H SEMA4A semaphorin 4A IAGP HPO ORPHA:791 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G H SGPL1 sphingosine-1-phosphate lyase 1 IAGP HPO OMIM:617575 NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		JBrowse link
G H SIL1 SIL1 nucleotide exchange factor IAGP HPO ORPHA:559 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G H SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G H SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G H SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G H SLC30A7 solute carrier family 30 member 7 IAGP HPO OMIM:620501 NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,981,757 		JBrowse link
G H SLC39A4 solute carrier family 39 member 4 IAGP HPO OMIM:201100 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844 		JBrowse link
G H SLC3A1 solute carrier family 3 member 1 IAGP HPO ORPHA:163693 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		JBrowse link
G H SLC7A14 solute carrier family 7 member 14 IAGP HPO ORPHA:791 NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075 		JBrowse link
G H SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G H SMAD4 SMAD family member 4 IAGP HPO ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G H SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO ORPHA:2250 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G H SNAP29 synaptosome associated protein 29 IAGP HPO ORPHA:66631 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G H SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 IAGP HPO ORPHA:791 NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271 		JBrowse link
G H SOX10 SRY-box transcription factor 10 IAGP HPO OMIM:613266 ORPHA:163746 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G H SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:791 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350 		JBrowse link
G H SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G H SPRTN SprT-like N-terminal domain IAGP HPO OMIM:616200 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023 		JBrowse link
G H STEAP3 STEAP3 metalloreductase IAGP HPO OMIM:615234 ORPHA:300298 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652 		JBrowse link
G H STS steroid sulfatase IAGP HPO ORPHA:281090 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G H STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO OMIM:615768 ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G H TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G H TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:791 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G H TP53 tumor protein p53 IAGP HPO OMIM:618165 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G H TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO OMIM:616629 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		JBrowse link
G H TRIM32 tripartite motif containing 32 IAGP HPO OMIM:615988 ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G H TTC8 tetratricopeptide repeat domain 8 IAGP HPO OMIM:615985 ORPHA:110 ORPHA:791 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G H TUB TUB bipartite transcription factor IAGP HPO ORPHA:791 NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243 		JBrowse link
G H TULP1 TUB like protein 1 IAGP HPO ORPHA:791 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		JBrowse link
G H TWNK twinkle mtDNA helicase IAGP HPO OMIM:609286 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G H UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G H UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G H USH2A usherin IAGP HPO ORPHA:791 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G H USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
G H VPS4A vacuolar protein sorting 4 homolog A IAGP HPO OMIM:619273 NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,350...69,326,939 		JBrowse link
G H WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G H WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:3463 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G H WRN WRN RecQ like helicase IAGP HPO OMIM:277700 ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G H XPA XPA, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
G H XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,147...14,178,621 		JBrowse link
G H XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G H ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO ORPHA:3042 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G H ZNF408 zinc finger protein 408 IAGP HPO ORPHA:791 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912 		JBrowse link
G H ZNF513 zinc finger protein 513 IAGP HPO ORPHA:791 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790 		JBrowse link
Hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AC079385.1 novel transcript, antisense to POLR3B, RFX4 and RIC8B. IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:27512013 NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926 		JBrowse link
G H 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 H AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G H ANK1 ankyrin 1 IAGP HPO ORPHA:251066 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G H ANOS1 anosmin 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:25741868 OMIM:308700 ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G H AXL AXL receptor tyrosine kinase IAGP HPO OMIM:146110 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766 		JBrowse link
G H BAP1 BRCA1 associated protein 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 H BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G H BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G H BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G H BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G H 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 H BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G H CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G H CBX2 chromobox 2 IAGP HPO ORPHA:242 NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983 		JBrowse link
G H CCDC141 coiled-coil domain containing 141 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 OMIM:146110 ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G H 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 H CHD4 chromodomain helicase DNA binding protein 4 IAGP HPO OMIM:617159 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G H CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 More... OMIM:214800 OMIM:612370 ORPHA:138 ORPHA:432 ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G H CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G H COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:45358 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G H CPE carboxypeptidase E IAGP HPO OMIM:619326 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G H CTDP1 CTD phosphatase subunit 1 IAGP HPO OMIM:604168 ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G H 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 H DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO OMIM:241080 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G H DCC DCC netrin 1 receptor IAGP HPO ORPHA:238722 ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G H DHH desert hedgehog signaling molecule IAGP HPO ORPHA:242 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G H DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:242 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G H DMRT1 doublesex and mab-3 related transcription factor 1 IAGP HPO ORPHA:242 NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090 		JBrowse link
G H DMXL2 Dmx like 2 IAGP HPO OMIM:616113 ORPHA:453533 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G H DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G H DNAL4 dynein axonemal light chain 4 IAGP HPO ORPHA:238722 NCBI chr22:38,778,508...38,794,143
Ensembl chr22:38,778,508...38,794,198 		JBrowse link
G H DUSP6 dual specificity phosphatase 6 IAGP HPO OMIM:146110 OMIM:615269 ORPHA:432 ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G H EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G H ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G H FEZF1 FEZ family zinc finger 1 IAGP HPO OMIM:146110 ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP HPO OMIM:146110 ORPHA:432 ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO OMIM:612702 ORPHA:432 ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 More... OMIM:147950 ORPHA:432 ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G H 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 H 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 H 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 H GJB2 gap junction protein beta 2 IAGP HPO ORPHA:494 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G H 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 H GNRH1 gonadotropin releasing hormone 1 IAGP HPO OMIM:146110 OMIM:614841 ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G H GNRHR gonadotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar Annotator: match by term: Low gonadotropins (secondary hypogonadism)		 ClinVar
HPO		 PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 More... OMIM:146110 ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G H 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 H GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G H GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G H GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G H HDAC8 histone deacetylase 8 IAGP HPO ORPHA:3459 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G H HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO OMIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G H HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 ORPHA:478 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G H HFE homeostatic iron regulator IAGP HPO OMIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G H HJV hemojuvelin BMP co-receptor IAGP HPO OMIM:602390 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G H HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:25741868 ORPHA:432 ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G H HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 IAGP HPO ORPHA:752 NCBI chr 9:96,235,306...96,302,176
Ensembl chr 9:96,235,306...96,302,176 		JBrowse link
G H 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 H IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G H KIF21A kinesin family member 21A IAGP HPO ORPHA:45358 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G H KISS1 KiSS-1 metastasis suppressor IAGP HPO OMIM:614842 ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G H KISS1R KISS1 receptor IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:25741868 OMIM:614837 ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G H LAS1L LAS1 like ribosome biogenesis factor IAGP HPO ORPHA:3459 NCBI chr  X:65,512,582...65,534,787
Ensembl chr  X:65,438,549...65,534,810 		JBrowse link
G H LGR4 leucine rich repeat containing G protein-coupled receptor 4 IAGP HPO OMIM:619613 NCBI chr11:27,365,961...27,472,790
Ensembl chr11:27,365,961...27,472,790 		JBrowse link
G H LHB luteinizing hormone subunit beta IAGP HPO OMIM:228300 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G H 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 H 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 H LIG3 DNA ligase 3 IAGP HPO ORPHA:298 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G H LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G H LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO OMIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:177910 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:242 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G H 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 H METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G H MKRN3 makorin ring finger protein 3 IAGP HPO OMIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G H MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G H MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G H MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G H MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G H MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G H MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G H MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G H MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G H MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G H MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G H MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G H MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G H MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G H MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G H MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G H MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G H MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G H NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G H NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:177910 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G H 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 H NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G H NHLH2 nescient helix-loop-helix 2 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar Annotator: match by term: Low gonadotropins (secondary hypogonadism)		 ClinVar
HPO		 PMID:25741868 PMID:35066646 ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G H NLGN3 neuroligin 3 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:71,144,841...71,175,307
Ensembl chr  X:71,144,821...71,175,255 		JBrowse link
G H NPAP1 nuclear pore associated protein 1 IAGP HPO OMIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G H NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO OMIM:300200 ORPHA:242 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G H NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:242 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G H NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G H NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO OMIM:614838 ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G H NTN1 netrin 1 IAGP HPO ORPHA:238722 NCBI chr17:9,003,087...9,244,000
Ensembl chr17:9,021,510...9,244,000 		JBrowse link
G H 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 H 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 H PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO OMIM:600955 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G H 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 H PHOX2A paired like homeobox 2A IAGP HPO ORPHA:45358 NCBI chr11:72,239,077...72,244,176
Ensembl chr11:72,239,077...72,245,664 		JBrowse link
G H 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 H PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Hypogonadotrophic hypogonadism ClinVar PMID:25741868 NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779 		JBrowse link
G H PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G H 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 H PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO OMIM:215470 OMIM:275400 ORPHA:1173 ORPHA:1180 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G H POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO OMIM:301030 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G H POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:298 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G H POLR3A RNA polymerase III subunit A IAGP HPO OMIM:607694 ORPHA:3455 ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G H POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar Annotator: match by term: Low gonadotropins (secondary hypogonadism)		 ClinVar
HPO		 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... OMIM:607694 OMIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G H POLR3K RNA polymerase III subunit K IAGP HPO OMIM:619310 NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608 		JBrowse link
G H 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 H POU6F2 POU class 6 homeobox 2 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		JBrowse link
G H PRDM13 PR/SET domain 13 IAGP HPO OMIM:619761 NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
G H PROK2 prokineticin 2 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:25741868 OMIM:610628 ORPHA:432 ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G H PROKR2 prokineticin receptor 2 IAGP HPO OMIM:244200 ORPHA:432 ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G H 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 H PTCH1 patched 1 IAGP HPO ORPHA:377 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G H PTCH2 patched 2 IAGP HPO ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G H PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G H PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO OMIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055 		JBrowse link
G H PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO OMIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365 		JBrowse link
G H RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO OMIM:619420 ORPHA:1387 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G H RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO OMIM:212720 ORPHA:1387 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G H RAD51 RAD51 recombinase IAGP HPO ORPHA:238722 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G H RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G H RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G H RBM28 RNA binding motif protein 28 IAGP HPO OMIM:612079 ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G H REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G H RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G H RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G H RNF216 ring finger protein 216 IAGP HPO OMIM:212840 ORPHA:1173 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G H RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G H RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G H RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G H RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:298 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G H 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 H SEMA3E semaphorin 3E IAGP HPO OMIM:146110 ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G H SEMA3F semaphorin 3F IAGP ClinVar Annotator: match by term: Hypogonadotrophic hypogonadism ClinVar PMID:25741868 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075 		JBrowse link
G H SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G H SIX6 SIX homeobox 6 IAGP HPO OMIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G H SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G H SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G H SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO OMIM:603457 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G H 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 H SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO OMIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804 		JBrowse link
G H SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO OMIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:177907 ORPHA:177910 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G H SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G H 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 H SOX2 SRY-box transcription factor 2 IAGP HPO OMIM:206900 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G H 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 H SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:242 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G H SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G H SPRY4 sprouty RTK signaling antagonist 4 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:25741868 OMIM:146110 OMIM:615266 ORPHA:432 ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G H SRA1 steroid receptor RNA activator 1 IAGP HPO OMIM:146110 NCBI chr 5:140,550,067...140,558,093
Ensembl chr 5:140,537,340...140,557,677 		JBrowse link
G H SRY sex determining region Y IAGP HPO ORPHA:242 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G H STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G H SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G H TAC3 tachykinin precursor 3 IAGP HPO OMIM:614839 ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G H TACR3 tachykinin receptor 3 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:25741868 OMIM:614840 ORPHA:432 ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G H TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G H TCF12 transcription factor 12 IAGP HPO OMIM:619718 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281 		JBrowse link
G H 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 H TFR2 transferrin receptor 2 IAGP HPO OMIM:604250 NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		JBrowse link
G H TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G H TP63 tumor protein p63 IAGP HPO OMIM:604292 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G H 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 H TUBA1A tubulin alpha 1a IAGP HPO ORPHA:45358 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G H TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:45358 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G H TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:45358 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G H TYMP thymidine phosphorylase IAGP HPO ORPHA:298 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G H VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G H WDR11 WD repeat domain 11 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar
HPO		 PMID:20887964 PMID:25741868 PMID:28492532 OMIM:146110 OMIM:614858 ORPHA:432 ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G H WT1 WT1 transcription factor IAGP HPO ORPHA:242 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Isosexual precocious puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G H KISS1R KISS1 receptor IAGP HPO OMIM:176400 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2788 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
Leydig cell insensitivity to gonadotropin term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ANOS1 anosmin 1 IAGP HPO OMIM:308700 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
Male hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139396 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G H 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 H AIRE autoimmune regulator IAGP HPO OMIM:240300 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G H ANAPC1 anaphase promoting complex subunit 1 IAGP HPO OMIM:618625 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G H 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 H CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G H CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G H CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G H 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 H 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 H DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G H EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO OMIM:300148 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G H ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G H ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G H ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90321 ORPHA:90322 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G H ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90321 ORPHA:90322 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H 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 H GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G H GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G H HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G H IFT172 intraflagellar transport 172 IAGP HPO OMIM:619471 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G H KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G H KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H LHB luteinizing hormone subunit beta IAGP HPO OMIM:228300 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G H MECP2 methyl-CpG binding protein 2 IAGP HPO OMIM:300055 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G H 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 H NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G H NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:393 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G H NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:393 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G H NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G H 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 H POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO OMIM:615381 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G H PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G H PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G H SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:393 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G H SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:393 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G H SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G H SRY sex determining region Y IAGP HPO ORPHA:393 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G H TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G H TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G H WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G H WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:3463 ORPHA:411590 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Precocious puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ARX aristaless related homeobox IAGP HPO ORPHA:1934 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G H ASXL3 ASXL transcriptional regulator 3 IAGP HPO OMIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G H BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G H BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G H BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G H CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:1934 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G H CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:1934 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G H 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 H CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G H CNTNAP2 contactin associated protein 2 IAGP HPO ORPHA:163681 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G H CPLX1 complexin 1 IAGP HPO OMIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G H 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 H CTBP1 C-terminal binding protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G H CTSH cathepsin H IAGP HPO ORPHA:2073 NCBI chr15:78,921,058...78,945,046
Ensembl chr15:78,921,058...78,949,574 		JBrowse link
G H CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G H DDX3X DEAD-box helicase 3 X-linked IAGP HPO OMIM:300958 ORPHA:457260 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G H DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G H DHCR7 7-dehydrocholesterol reductase IAGP HPO OMIM:270400 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G H 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 H DLK1 delta like non-canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: Central precocious puberty HPO
ClinVar		 ORPHA:254525 ORPHA:254531 ORPHA:96184 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G H 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 H DMXL2 Dmx like 2 IAGP HPO ORPHA:1934 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G H DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G H EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G H EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G H ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G H EXT2 exostosin glycosyltransferase 2 IAGP HPO OMIM:616682 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:280195 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO OMIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G H FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G H FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G H FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G H 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 H FREM1 FRAS1 related extracellular matrix 1 IAGP HPO OMIM:608980 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995 		JBrowse link
G H 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 H 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 H GLI3 GLI family zinc finger 3 IAGP HPO OMIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G H GNAO1 G protein subunit alpha o1 IAGP HPO ORPHA:1934 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444 		JBrowse link
G H GNAS GNAS complex locus IAGP HPO OMIM:174800 ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G H 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 H GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO ORPHA:1934 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G H GRM7 glutamate metabotropic receptor 7 IAGP HPO ORPHA:1934 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G H GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G H GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G H GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G H H4C5 H4 clustered histone 5 IAGP HPO OMIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G H H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase IAGP HPO OMIM:604931 NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337 		JBrowse link
G H HCRT hypocretin neuropeptide precursor IAGP HPO ORPHA:2073 NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452 		JBrowse link
G H HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO OMIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G H HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO ORPHA:2073 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G H HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:2073 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G H HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO OMIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G H HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:163200 ORPHA:2874 ORPHA:79414 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G H HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:96191 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G H IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:296 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G H IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:296 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G H IFNG interferon gamma IAGP HPO OMIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G H INSR insulin receptor IAGP HPO OMIM:246200 OMIM:262190 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G H IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G H IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:217377 ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G H 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 H KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:1934 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G H KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:293181 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G H KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP HPO ORPHA:293181 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G H KDM6A lysine demethylase 6A IAGP HPO ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G H KMT2B lysine methyltransferase 2B IAGP HPO ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G H KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G H KMT2D lysine methyltransferase 2D IAGP HPO ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G H KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G H LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G H LHCGR luteinizing hormone/choriogonadotropin receptor IAGP HPO ORPHA:3000 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G H LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G H LMNA lamin A/C IAGP HPO ORPHA:2229 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G H LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Precocious puberty ClinVar PMID:25741868 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G H MAB21L2 mab-21 like 2 IAGP HPO OMIM:615877 NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO OMIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:398069 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H MC2R melanocortin 2 receptor IAGP HPO ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G H MEG3 maternally expressed 3 IAGP HPO ORPHA:254525 ORPHA:254531 ORPHA:96184 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G H METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G H MIA3 MIA SH3 domain ER export factor 3 IAGP HPO OMIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G H MKRN3 makorin ring finger protein 3 IAGP HPO OMIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G H MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G H MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G H MOG myelin oligodendrocyte glycoprotein IAGP HPO ORPHA:2073 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372 		JBrowse link
G H MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G H MSL3 MSL complex subunit 3 IAGP HPO OMIM:301032 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772 		JBrowse link
G H NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G H 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 H NEUROD2 neuronal differentiation 2 IAGP HPO ORPHA:1934 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G H NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G H NFIX nuclear factor I X IAGP HPO ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G H NNT nicotinamide nucleotide transhydrogenase IAGP HPO OMIM:614736 ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G H 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 H NPAP1 nuclear pore associated protein 1 IAGP HPO OMIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G H NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO OMIM:300200 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G H NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:786 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G H NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G H NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G H 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 H P2RY11 purinergic receptor P2Y11 IAGP HPO ORPHA:2073 NCBI chr19:10,111,693...10,115,372
Ensembl chr19:10,111,693...10,115,372 		JBrowse link
G H PCNT pericentrin IAGP HPO OMIM:210720 ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G H 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 H PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:293181 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G H PIGF phosphatidylinositol glycan anchor biosynthesis class F IAGP HPO OMIM:619356 NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055 		JBrowse link
G H PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO ORPHA:1934 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G H PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO ORPHA:1934 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G H PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G H PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:96191 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G H PLCB1 phospholipase C beta 1 IAGP HPO ORPHA:293181 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360 		JBrowse link
G H PNKP polynucleotide kinase 3'-phosphatase IAGP HPO ORPHA:1934 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G H 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 H PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Precocious puberty HPO
ClinVar		 PMID:25741868 ORPHA:280195 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G H PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:296 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G H PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO OMIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055 		JBrowse link
G H PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO OMIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365 		JBrowse link
G H RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G H RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G H RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G H RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254525 ORPHA:254531 ORPHA:96184 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G H SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:293181 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G H SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:1934 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G H SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:1934 ORPHA:293181 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G H SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:280195 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G H SIK1 salt inducible kinase 1 IAGP HPO ORPHA:1934 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G H SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G H 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 H SLC12A5 solute carrier family 12 member 5 IAGP HPO ORPHA:293181 NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150 		JBrowse link
G H SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:1934 ORPHA:293181 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G H SLC32A1 solute carrier family 32 member 1 IAGP HPO ORPHA:1934 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G H SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G H SMAD4 SMAD family member 4 IAGP HPO ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G H SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO OMIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804 		JBrowse link
G H SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO OMIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H SOX6 SRY-box transcription factor 6 IAGP HPO OMIM:618971 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591 		JBrowse link
G H SPEN spen family transcriptional repressor IAGP HPO OMIM:619312 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G H SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G H STAR steroidogenic acute regulatory protein IAGP HPO ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G H 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 H STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G H TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:293181 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G H TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G H TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO OMIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G H 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 H TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G H TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:2073 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331 		JBrowse link
G H TNRC6B trinucleotide repeat containing adaptor 6B IAGP HPO OMIM:619243 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		JBrowse link
G H TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G H TRIM8 tripartite motif containing 8 IAGP HPO ORPHA:1934 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
G H TSC1 TSC complex subunit 1 IAGP HPO OMIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G H TSC2 TSC complex subunit 2 IAGP HPO OMIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G H TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G H VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G H 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
G H ZNF365 zinc finger protein 365 IAGP HPO ORPHA:2073 NCBI chr10:62,374,369...62,480,285
Ensembl chr10:62,374,192...62,480,288 		JBrowse link
G H ZNF526 zinc finger protein 526 IAGP HPO OMIM:619877 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201 		JBrowse link
Precocious puberty in females term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO ORPHA:528 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G H ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G H BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:528 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G H CAV1 caveolin 1 IAGP HPO ORPHA:528 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G H CAVIN1 caveolae associated protein 1 IAGP HPO ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G H 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 H FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP HPO ORPHA:528 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230 		JBrowse link
G H GRIA1 glutamate ionotropic receptor AMPA type subunit 1 IAGP HPO OMIM:619931 NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869 		JBrowse link
G H PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:528 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G H TP63 tumor protein p63 IAGP HPO OMIM:620311 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
Precocious puberty in males term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO OMIM:202010 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G H LHCGR luteinizing hormone/choriogonadotropin receptor IAGP ClinVar Annotator: match by term: Precocious puberty in males ClinVar
HPO		 PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... OMIM:176410 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G H STON1-GTF2A1L STON1-GTF2A1L readthrough IAGP ClinVar Annotator: match by term: Precocious puberty in males ClinVar PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517 		JBrowse link
Precocious puberty with Sertoli cell tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H STK11 serine/threonine kinase 11 IAGP HPO OMIM:175200 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
Premature adrenarche term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G H 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 H 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 H 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 H 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 H 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 H SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H TAF4 TATA-box binding protein associated factor 4 IAGP HPO OMIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G H USP7 ubiquitin specific peptidase 7 IAGP HPO OMIM:616863 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
Premature pubarche term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G H CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G H HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 IAGP HPO OMIM:614662 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G H HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP HPO OMIM:201810 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:398069 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H MEN1 menin 1 IAGP HPO ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G H MKRN3 makorin ring finger protein 3 IAGP HPO OMIM:615346 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G H 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 H 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 H PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP HPO OMIM:612847 NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,705 		JBrowse link
G H SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H TANGO2 transport and golgi organization 2 homolog IAGP HPO OMIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
Premature thelarche term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CREBBP CREB binding protein IAGP HPO OMIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G H CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G H 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 H EIF5A eukaryotic translation initiation factor 5A IAGP HPO OMIM:619376 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G H EP300 E1A binding protein p300 IAGP HPO OMIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G H GNAS GNAS complex locus IAGP DNA:missense mutation:exon:p.R201H (human) RGD PMID:15289771 RGD:11568055 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G H KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G H KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G H MKRN3 makorin ring finger protein 3 IAGP HPO OMIM:615346 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G H MMP14 matrix metallopeptidase 14 IAGP HPO ORPHA:371428 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G H MMP2 matrix metallopeptidase 2 IAGP HPO ORPHA:371428 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G H TANGO2 transport and golgi organization 2 homolog IAGP HPO OMIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
Primary gonadal insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H 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 H CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G H 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 H DMRT3 doublesex and mab-3 related transcription factor 3 IAGP HPO ORPHA:251510 NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732 		JBrowse link
G H EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP HPO OMIM:603896 NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766 		JBrowse link
G H 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 H 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 H 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 H NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G H NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO ORPHA:436182 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120 		JBrowse link
G H 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 H SRY sex determining region Y IAGP HPO ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G H 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 H WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:411590 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G H 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 H 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 H XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:436182 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G H 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
Pubertal developmental failure in females term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G H ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of the endocrine system 2651
        Puberty and gonadal disorders 675
          Absence of pubertal development + 31
          Absence of secondary sex characteristics 45
          Adrenogenital syndrome 4
          Androgen insufficiency 5
          Delayed puberty + 212
          Early onset of sexual maturation + 184
          Hypogonadism + 453
          Leydig cell insensitivity to gonadotropin 1
          Primary gonadal insufficiency 18
paths to the root