Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormality of reproductive system physiology
go back to main search page
Accession:HP:0000080 term browser browse the term
Definition:An abnormal functionality of the genital system.
Synonyms:exact_synonym: Genital functional abnormality
 broad_synonym: Abnormality of genital physiology
 xref: UMLS:C4020896;   UMLS:C4021820


show annotations for term's descendants           Sort by:
Abnormality of reproductive system physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1501 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1501 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1501 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Abnormal libido term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP HPO ORPHA:189427 NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:189427 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HTT huntingtin IAGP HPO ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G OPRD1 opioid receptor delta 1 IAGP associated with age, methadone treatment; DNA:SNP:intron 1 (rs2236855|2236857) (human) RGD PMID:28632076 RGD:401976541 NCBI chr 1:28,812,170...28,871,267
Ensembl chr 1:28,812,170...28,871,267 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
Abnormal meiosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PANX1 pannexin 1 IAGP HPO ORPHA:488191 NCBI chr11:94,128,841...94,181,968
Ensembl chr11:94,128,841...94,181,968 		JBrowse link
G PATL2 PAT1 homolog 2 IAGP HPO ORPHA:488191 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
G TUBB8 tubulin beta 8 class VIII IAGP HPO ORPHA:488191 NCBI chr10:46,455...76,621
Ensembl chr10:46,888...74,163 		JBrowse link
G WEE2 WEE2 oocyte meiosis inhibiting kinase IAGP HPO ORPHA:488191 NCBI chr 7:141,708,353...141,731,271
Ensembl chr 7:141,708,353...141,731,271 		JBrowse link
Abnormal sperm motility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC103 coiled-coil domain containing 103 IAGP HPO ORPHA:244 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608 		JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO ORPHA:244 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO ORPHA:244 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO ORPHA:244 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO ORPHA:244 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO ORPHA:244 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO ORPHA:244 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO ORPHA:244 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP HPO ORPHA:244 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO ORPHA:244 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO ORPHA:244 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO ORPHA:244 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO ORPHA:244 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO ORPHA:244 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366 		JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP HPO ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO ORPHA:244 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP HPO ORPHA:244 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO ORPHA:244 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:244 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G 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 RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO ORPHA:244 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO ORPHA:244 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO ORPHA:244 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO ORPHA:244 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
Abnormal spermatogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO ORPHA:399805 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO OMIM:611102 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO ORPHA:399805 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:399805 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO ORPHA:399805 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G DAZ1 deleted in azoospermia 1 IAGP HPO ORPHA:1646 NCBI chr  Y:23,129,355...23,199,094
Ensembl chr  Y:23,129,355...23,199,010 		JBrowse link
G DAZ2 deleted in azoospermia 2 IAGP HPO ORPHA:1646 NCBI chr  Y:23,219,457...23,291,356
Ensembl chr  Y:23,219,447...23,291,356 		JBrowse link
G DAZ3 deleted in azoospermia 3 IAGP HPO ORPHA:1646 NCBI chr  Y:24,763,069...24,813,393
Ensembl chr  Y:24,763,069...24,813,492 		JBrowse link
G DAZ4 deleted in azoospermia 4 IAGP HPO ORPHA:1646 NCBI chr  Y:24,833,820...24,907,040
Ensembl chr  Y:24,833,843...24,907,040 		JBrowse link
G 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 DDX3Y DEAD-box helicase 3 Y-linked IAGP HPO ORPHA:1646 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO ORPHA:399805 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNAH6 dynein axonemal heavy chain 6 IAGP ClinVar Annotator: match by term: Abnormal spermatogenesis ClinVar PMID:31676830 NCBI chr 2:84,459,572...84,819,589
Ensembl chr 2:84,516,455...84,819,589 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO ORPHA:399805 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:399805 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO ORPHA:399805 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO ORPHA:399805 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G 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 MEIOB meiosis specific with OB-fold IAGP HPO ORPHA:399805 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,872,178 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP HPO ORPHA:399805 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH5 mutS homolog 5 IAGP HPO ORPHA:399805 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO ORPHA:399805 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:399805 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PANX1 pannexin 1 IAGP HPO ORPHA:488191 NCBI chr11:94,128,841...94,181,968
Ensembl chr11:94,128,841...94,181,968 		JBrowse link
G PATL2 PAT1 homolog 2 IAGP HPO ORPHA:488191 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO ORPHA:399805 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO ORPHA:399805 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 IAGP HPO ORPHA:1646 NCBI chr  Y:21,534,879...21,559,683
Ensembl chr  Y:21,534,879...21,549,326 		JBrowse link
G RNF212 ring finger protein 212 IAGP HPO ORPHA:399805 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO ORPHA:399805 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO ORPHA:399805 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO ORPHA:399805 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO ORPHA:399805 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 IAGP DNA:snp:intron:g.IVS2+305T>C (rs6103330) RGD PMID:24661730 RGD:11039404 NCBI chr20:43,457,896...43,464,243
Ensembl chr20:43,457,893...43,466,046 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO ORPHA:399805 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G STRC stereocilin IAGP HPO OMIM:611102 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO ORPHA:399805 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO ORPHA:399805 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO ORPHA:399805 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO ORPHA:399805 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP HPO ORPHA:399805 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO ORPHA:399805 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP HPO ORPHA:399805 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP HPO ORPHA:399805 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO ORPHA:399805 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TSPY1 testis specific protein Y-linked 1 IAGP HPO ORPHA:1646 NCBI chr  Y:9,466,955...9,469,749
Ensembl chr  Y:9,466,955...9,469,749 		JBrowse link
G TUBB8 tubulin beta 8 class VIII IAGP HPO ORPHA:488191 NCBI chr10:46,455...76,621
Ensembl chr10:46,888...74,163 		JBrowse link
G USP9Y ubiquitin specific peptidase 9 Y-linked IAGP HPO ORPHA:1646 NCBI chr  Y:12,701,231...12,860,839
Ensembl chr  Y:12,537,650...12,860,839 		JBrowse link
G WEE2 WEE2 oocyte meiosis inhibiting kinase IAGP HPO ORPHA:488191 NCBI chr 7:141,708,353...141,731,271
Ensembl chr 7:141,708,353...141,731,271 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:399805 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO ORPHA:399805 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
Abnormal vaginal bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP HPO ORPHA:3002 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662 		JBrowse link
Abnormality of the menstrual cycle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP HPO ORPHA:90308 NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 IAGP HPO OMIM:619009 NCBI chr11:111,383,826...111,514,725
Ensembl chr11:111,467,526...111,514,367 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 susceptibility IAGP DNA:missense mutation:cds:p.A264C (rs700519) RGD PMID:21282199 RGD:7257710 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO ORPHA:721 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP DNA:SNP:introns: (rs73725617, rs117124693) RGD PMID:23424626 RGD:11052168 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G SRY sex determining region Y IAGP HPO OMIM:400044 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO OMIM:619011 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
Amenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC079385.1 novel transcript, antisense to POLR3B, RFX4 and RIC8B. IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926 		JBrowse link
G 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 AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G ANOS1 anosmin 1 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G 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 ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AXL AXL receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766 		JBrowse link
G 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 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 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 BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G 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 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 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 CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:18414213 PMID:21158681 PMID:22539353 PMID:24033266 PMID:25077900 More... NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G DCC DCC netrin 1 receptor IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:24808016 PMID:32870266 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DMXL2 Dmx like 2 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G 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 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 FOXL2 forkhead box L2 IAGP HPO OMIM:110100 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 More... NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:614926 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
G HESX1 HESX homeobox 1 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar
HPO		 PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G 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 HFM1 helicase for meiosis 1 IAGP HPO OMIM:615724 NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G 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 KL klotho IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:32870266 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G KLB klotho beta IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 4:39,406,930...39,451,533
Ensembl chr 4:39,406,930...39,451,533 		JBrowse link
G KPNA7 karyopherin subunit alpha 7 IAGP HPO OMIM:620319 NCBI chr 7:99,145,804...99,219,419
Ensembl chr 7:99,173,572...99,250,075 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO OMIM:606593 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LOC108281177 SOX2 5' regulatory region IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:181,707,848...181,712,914 JBrowse link
G MACROD2 mono-ADP ribosylhydrolase 2 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr20:13,995,516...16,053,197
Ensembl chr20:13,995,369...16,053,197 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 ORPHA:652 ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MOS MOS proto-oncogene, serine/threonine kinase IAGP HPO OMIM:620383 NCBI chr 8:56,112,942...56,113,982
Ensembl chr 8:56,112,942...56,113,982 		JBrowse link
G MSH5 mutS homolog 5 IAGP HPO OMIM:617442 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G OTUD4 OTU deubiquitinase 4 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 4:145,133,650...145,180,589
Ensembl chr 4:145,110,838...145,180,589 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO OMIM:619425 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 More... NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G 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 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 PROK2 prokineticin 2 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar
HPO		 PMID:28492532 PMID:32870266 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 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G SEMA3A semaphorin 3A IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:22927827 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SEMA3E semaphorin 3E IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G 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 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 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 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 SOX2 SRY-box transcription factor 2 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX2-OT SOX2 overlapping transcript IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:28492532 PMID:32870266 NCBI chr 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:23643382 PMID:24033266 PMID:28492532 PMID:32870266 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G 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 TP53 tumor protein p53 IAGP HPO ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
G WDR11 WD repeat domain 11 IAGP ClinVar Annotator: match by term: Amenorrhea ClinVar PMID:32870266 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:228930 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G XPO5 exportin 5 susceptibility IAGP DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) RGD PMID:23549446 RGD:11041728 NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038 		JBrowse link
Autonomic erectile dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO ORPHA:227510 ORPHA:98933 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G LMNB1 lamin B1 IAGP HPO OMIM:169500 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
Azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO OMIM:300985 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:251066 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G 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
G AR androgen receptor IAGP HPO OMIM:312300 ORPHA:90797 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP HPO OMIM:273300 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO OMIM:210900 ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G 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 BPY2 basic charge Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:22,984,263...23,005,465
Ensembl chr  Y:22,973,819...23,005,465 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G 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 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 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 C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 PMID:33508233 OMIM:619202 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO ORPHA:399805 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO ORPHA:94064 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO ORPHA:399805 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CDY1 chromodomain Y-linked 1 IAGP HPO OMIM:415000 NCBI chr  Y:25,622,115...25,625,511
Ensembl chr  Y:25,622,117...25,624,902 		JBrowse link
G CDY2A chromodomain Y-linked 2A IAGP HPO OMIM:415000 NCBI chr  Y:18,025,787...18,027,746
Ensembl chr  Y:18,025,787...18,027,746 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO OMIM:615703 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP DNA:deletion, nonsense mutations, missense mutations:multiple HPO
RGD		 PMID:11119745 OMIM:277180 ORPHA:399805, RGD:11566027 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G 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 CT55 cancer/testis antigen 55 IAGP HPO ORPHA:399805 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G DAZ1 deleted in azoospermia 1 IAGP HPO OMIM:415000 NCBI chr  Y:23,129,355...23,199,094
Ensembl chr  Y:23,129,355...23,199,010 		JBrowse link
G DAZ2 deleted in azoospermia 2 IAGP HPO OMIM:415000 NCBI chr  Y:23,219,457...23,291,356
Ensembl chr  Y:23,219,447...23,291,356 		JBrowse link
G DAZ3 deleted in azoospermia 3 IAGP HPO OMIM:415000 NCBI chr  Y:24,763,069...24,813,393
Ensembl chr  Y:24,763,069...24,813,492 		JBrowse link
G DDX25 DEAD-box helicase 25 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr11:125,903,328...125,928,843
Ensembl chr11:125,903,348...125,943,702 		JBrowse link
G DDX3Y DEAD-box helicase 3 Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DMC1 DNA meiotic recombinase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr22:38,509,147...38,570,183
Ensembl chr22:38,518,948...38,570,204 		JBrowse link
G 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 DNAH10 dynein axonemal heavy chain 10 IAGP HPO ORPHA:399805 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO OMIM:618300 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO ORPHA:399805 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G 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 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr16:1,827,206...1,840,207
Ensembl chr16:1,826,967...1,840,207 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Azoospermia HPO
ClinVar		 PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... ORPHA:399805 ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO ORPHA:399805 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G 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 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 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 FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:273300 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO OMIM:620103 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO OMIM:229070 ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 PMID:35172124 OMIM:301077 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		JBrowse link
G 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 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 HENMT1 HEN methyltransferase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:108,648,295...108,661,474
Ensembl chr 1:108,648,290...108,661,526 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO OMIM:235200 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HFM1 helicase for meiosis 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G 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 HNF1B HNF1 homeobox B IAGP HPO ORPHA:2578 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G 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 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 HSFY1 heat shock transcription factor Y-linked 1 IAGP HPO OMIM:415000 NCBI chr  Y:18,529,643...18,588,963
Ensembl chr  Y:18,546,691...18,588,963 		JBrowse link
G KASH5 KASH domain containing 5 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KDM5D lysine demethylase 5D IAGP HPO OMIM:415000 NCBI chr  Y:19,703,865...19,744,726
Ensembl chr  Y:19,703,865...19,744,939 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO OMIM:614837 ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO OMIM:273300 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO ORPHA:399805 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G 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 M1AP meiosis 1 associated protein IAGP HPO OMIM:619108 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G 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 MCM8 minichromosome maintenance 8 homologous recombination repair factor IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 OMIM:612885 NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977 		JBrowse link
G MCMDC2 minichromosome maintenance domain containing 2 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 8:66,870,771...66,926,382
Ensembl chr 8:66,870,749...66,922,048 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 ORPHA:399805 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,872,178 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 ORPHA:399805 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G 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 MSH4 mutS homolog 4 IAGP HPO OMIM:108420 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 ORPHA:399805 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 6:31,739,948...31,764,850
Ensembl chr 6:31,740,020...31,764,851 		JBrowse link
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO OMIM:615413 ORPHA:399805 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		JBrowse link
G 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 NNT nicotinamide nucleotide transhydrogenase IAGP HPO ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G 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 NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO OMIM:613957 ORPHA:251510 ORPHA:399805 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G 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 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 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 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 PMID:29581481 PMID:35172124 OMIM:619828 ORPHA:399805 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO ORPHA:399805 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G 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 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 PRY PTPN13 like Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:22,490,397...22,514,637
Ensembl chr  Y:22,490,397...22,514,637 		JBrowse link
G PRY2 PTPN13 like Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:22,071,756...22,096,007
Ensembl chr  Y:22,071,756...22,096,007 		JBrowse link
G 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 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 RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 IAGP HPO OMIM:415000 NCBI chr  Y:21,534,879...21,559,683
Ensembl chr  Y:21,534,879...21,549,326 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RNF212 ring finger protein 212 IAGP HPO ORPHA:399805 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO ORPHA:399805 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G RPS4Y2 ribosomal protein S4 Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:20,756,108...20,781,032
Ensembl chr  Y:20,756,108...20,781,032 		JBrowse link
G 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 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 SHOC1 shortage in chiasmata 1 IAGP HPO ORPHA:399805 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO ORPHA:399805 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO ORPHA:399805 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G 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 SRY sex determining region Y IAGP HPO OMIM:400045 ORPHA:1772 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO ORPHA:399805 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G 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 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 STK11 serine/threonine kinase 11 IAGP HPO OMIM:273300 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G STRC stereocilin IAGP HPO ORPHA:94064 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO ORPHA:399805 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO OMIM:270960 ORPHA:399805 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G 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 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 TAF4B TATA-box binding protein associated factor 4b IAGP HPO OMIM:615841 ORPHA:399805 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 OMIM:618110 ORPHA:399805 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TDRKH tudor and KH domain containing IAGP ClinVar Annotator: match by term: Azoospermia ClinVar NCBI chr 1:151,766,486...151,790,534
Ensembl chr 1:151,770,107...151,791,416 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP ClinVar Annotator: match by term: Azoospermia ClinVar
HPO		 ORPHA:399805 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO ORPHA:399805 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP HPO OMIM:309120 ORPHA:399805 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP HPO OMIM:617707 ORPHA:399805 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO ORPHA:399805 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G 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 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 USP9Y ubiquitin specific peptidase 9 Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:12,701,231...12,860,839
Ensembl chr  Y:12,537,650...12,860,839 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G VCY variable charge Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:13,985,772...13,986,473
Ensembl chr  Y:13,985,772...13,986,473 		JBrowse link
G 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 WNT4 Wnt family member 4 IAGP HPO ORPHA:2578 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G XKRY XK related, Y-linked (pseudogene) IAGP HPO OMIM:415000 NCBI chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO OMIM:619145 ORPHA:399805 ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO OMIM:615842 ORPHA:399805 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
Cryptozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO OMIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G M1AP meiosis 1 associated protein IAGP ClinVar Annotator: match by term: Cryptospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO OMIM:617706 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,872,178 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO OMIM:613957 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP ClinVar Annotator: match by term: Cryptospermia ClinVar
HPO		 PMID:25741868 PMID:31866047 OMIM:258150 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO OMIM:618110 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO OMIM:617960 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TRIM71 tripartite motif containing 71 IAGP ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824 		JBrowse link
Decreased female libido term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G 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 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 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
Decreased fertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G AR androgen receptor IAGP HPO OMIM:313200 ORPHA:481 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP HPO ORPHA:243 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP HPO ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO OMIM:269700 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP HPO ORPHA:2970 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G CUL7 cullin 7 IAGP HPO ORPHA:2616 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:90796 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G 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 DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:983 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G 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 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 GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G 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 MPLKIP M-phase specific PLK1 interacting protein IAGP HPO OMIM:234050 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G 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 NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:2138 ORPHA:243 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO ORPHA:2616 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO OMIM:615067 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:1173 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606 		JBrowse link
G 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 PROK2 prokineticin 2 IAGP HPO ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:500 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G 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 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 SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO ORPHA:821 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:2138 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 IAGP HPO ORPHA:753 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:2138 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Decreased fertility in females term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO OMIM:608594 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO OMIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO OMIM:269700 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G 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 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 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 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 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 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 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 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 NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G 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 VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G 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
Decreased fertility in males term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G 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 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 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 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 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 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 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 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP HPO ORPHA:90791 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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
Decreased libido term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 IAGP HPO ORPHA:33543 NCBI chr 3:36,826,819...36,945,744
Ensembl chr 3:36,826,819...36,945,057 		JBrowse link
Decreased male libido term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
Delayed menarche term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Dysmenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G 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 CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO ORPHA:397590 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:90796 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G 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 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 HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:397590 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO ORPHA:397590 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:2348 ORPHA:280365 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G 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 PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G 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 PLAG1 PLAG1 zinc finger IAGP HPO ORPHA:397590 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
Dyspareunia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220393 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220393 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CLEC7A C-type lectin domain containing 7A IAGP HPO ORPHA:1334 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO OMIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:36426 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:220393 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO ORPHA:36426 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IL17F interleukin 17F IAGP HPO ORPHA:1334 NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689 		JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO ORPHA:1334 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP HPO ORPHA:1334 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G 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 PROK2 prokineticin 2 IAGP HPO ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G 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 SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP HPO ORPHA:1334 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
Empty ovarian follicle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZP3 zona pellucida glycoprotein 3 IAGP ClinVar Annotator: match by term: Empty follicle syndrome ClinVar PMID:28886344 NCBI chr 7:76,397,522...76,442,069
Ensembl chr 7:76,397,518...76,442,071 		JBrowse link
Endometriosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO OMIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036 		JBrowse link
G IL1B interleukin 1 beta IAGP ClinVar Annotator: match by term: Endometriosis ClinVar PMID:18550579 PMID:25741868 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1F10 interleukin 1 family member 10 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,067,970...113,075,843
Ensembl chr 2:113,067,970...113,075,843 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL36A interleukin 36 alpha IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,005,459...113,011,072
Ensembl chr 2:113,005,459...113,008,044 		JBrowse link
G IL36B interleukin 36 beta IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,022,089...113,052,867
Ensembl chr 2:113,022,089...113,052,867 		JBrowse link
G IL36G interleukin 36 gamma IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:112,978,006...112,985,658
Ensembl chr 2:112,973,203...112,985,658 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G LOC112806039 Sharpr-MPRA regulatory region 10370 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,088,592...113,088,886 JBrowse link
G LOC122817730 Sharpr-MPRA regulatory region 4990 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,034,092...113,034,386 JBrowse link
G LOC126806315 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113835447-113836646 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr 2:113,077,870...113,079,069 JBrowse link
G LOC129934600 ATAC-STARR-seq lymphoblastoid silent region 11877 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar
G LOC129934601 ATAC-STARR-seq lymphoblastoid active region 16409 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar
G LOC129934602 ATAC-STARR-seq lymphoblastoid active region 16410 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar
G LOC129934603 ATAC-STARR-seq lymphoblastoid active region 16411 IAGP ClinVar Annotator: match by term: Endometriosis ClinVar
G THOC6 THO complex subunit 6 IAGP HPO OMIM:613680 ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
G TNF tumor necrosis factor IAGP ClinVar Annotator: match by term: Endometriosis ClinVar PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Erectile dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G 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 ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G AR androgen receptor IAGP HPO ORPHA:481 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G 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 CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206448 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G IRF4 interferon regulatory factor 4 IAGP HPO ORPHA:3452 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G 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 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 PROK2 prokineticin 2 IAGP HPO ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G 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 SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
Female anorgasmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO ORPHA:227510 ORPHA:98933 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
Female hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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
Female infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTL astacin like metalloendopeptidase IAGP HPO OMIM:619643 NCBI chr 2:96,122,818...96,138,564
Ensembl chr 2:96,122,818...96,138,502 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 IAGP HPO OMIM:619009 NCBI chr11:111,383,826...111,514,725
Ensembl chr11:111,467,526...111,514,367 		JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP HPO ORPHA:244 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608 		JBrowse link
G CDC20 cell division cycle 20 IAGP HPO OMIM:620276 NCBI chr 1:43,358,981...43,363,203
Ensembl chr 1:43,358,981...43,363,203 		JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO ORPHA:244 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CHEK1 checkpoint kinase 1 IAGP HPO OMIM:620610 NCBI chr11:125,625,136...125,681,124
Ensembl chr11:125,625,163...125,676,255 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO ORPHA:91 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO ORPHA:244 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO ORPHA:244 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO ORPHA:244 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO ORPHA:244 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO ORPHA:244 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO OMIM:617577 ORPHA:244 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP HPO ORPHA:244 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO ORPHA:244 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO ORPHA:244 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO ORPHA:244 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO ORPHA:244 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO ORPHA:244 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366 		JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP HPO ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO OMIM:619697 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor IAGP HPO OMIM:612310 NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G FOXL2 forkhead box L2 IAGP HPO OMIM:110100 ORPHA:572333 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 IAGP HPO OMIM:619518 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532 		JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein IAGP HPO OMIM:619245 NCBI chr21:43,444,972...43,659,488
Ensembl chr21:43,529,186...43,659,488 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO OMIM:620548 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KPNA7 karyopherin subunit alpha 7 IAGP HPO OMIM:620319 NCBI chr 7:99,145,804...99,219,419
Ensembl chr 7:99,173,572...99,250,075 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 IAGP HPO OMIM:618431 NCBI chr22:41,699,503...41,799,454
Ensembl chr22:41,699,503...41,799,456 		JBrowse link
G MOS MOS proto-oncogene, serine/threonine kinase IAGP HPO OMIM:620383 NCBI chr 8:56,112,942...56,113,982
Ensembl chr 8:56,112,942...56,113,982 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO OMIM:619938 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP HPO OMIM:617442 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NLRP2 NLR family pyrin domain containing 2 IAGP HPO OMIM:620332 NCBI chr19:54,965,284...55,001,138
Ensembl chr19:54,953,130...55,001,142 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP HPO OMIM:620333 NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO ORPHA:244 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP HPO ORPHA:244 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO ORPHA:244 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:244 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PANX1 pannexin 1 IAGP HPO OMIM:618550 ORPHA:488191 NCBI chr11:94,128,841...94,181,968
Ensembl chr11:94,128,841...94,181,968 		JBrowse link
G PATL2 PAT1 homolog 2 IAGP HPO OMIM:617743 ORPHA:488191 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
G PGR progesterone receptor IAGP HPO OMIM:264080 NCBI chr11:101,029,624...101,129,813
Ensembl chr11:101,029,624...101,129,813 		JBrowse link
G 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 PRLR prolactin receptor IAGP HPO OMIM:615555 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO OMIM:614324 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
G REC114 REC114 meiotic recombination protein IAGP HPO OMIM:619176 NCBI chr15:73,443,164...73,560,013
Ensembl chr15:73,443,164...73,560,013 		JBrowse link
G RNF212B ring finger protein 212B IAGP ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr14:23,185,336...23,273,477
Ensembl chr14:23,185,316...23,273,477 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO ORPHA:244 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO ORPHA:244 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO ORPHA:244 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO ORPHA:244 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G TLE6 TLE family member 6, subcortical maternal complex member IAGP HPO OMIM:616814 NCBI chr19:2,977,401...2,995,179
Ensembl chr19:2,977,538...2,995,179 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks IAGP HPO OMIM:618432 NCBI chr11:66,744,736...66,843,516
Ensembl chr11:66,744,451...66,843,516 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO OMIM:619011 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544 		JBrowse link
G TUBB8 tubulin beta 8 class VIII IAGP ClinVar Annotator: match by term: Female infertility ClinVar
HPO		 PMID:25741868 OMIM:616780 ORPHA:488191 NCBI chr10:46,455...76,621
Ensembl chr10:46,888...74,163 		JBrowse link
G WEE2 WEE2 oocyte meiosis inhibiting kinase IAGP HPO OMIM:617996 ORPHA:488191 NCBI chr 7:141,708,353...141,731,271
Ensembl chr 7:141,708,353...141,731,271 		JBrowse link
G ZFP36L2 ZFP36 ring finger protein like 2 IAGP HPO OMIM:620154 NCBI chr 2:43,222,402...43,226,606
Ensembl chr 2:43,222,402...43,226,606 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
G ZP1 zona pellucida glycoprotein 1 IAGP HPO OMIM:615774 NCBI chr11:60,867,542...60,875,687
Ensembl chr11:60,867,542...60,875,693 		JBrowse link
G ZP2 zona pellucida glycoprotein 2 IAGP HPO OMIM:618353 NCBI chr16:21,197,450...21,214,510
Ensembl chr16:21,197,450...21,214,510 		JBrowse link
G ZP3 zona pellucida glycoprotein 3 IAGP HPO OMIM:617712 NCBI chr 7:76,397,522...76,442,069
Ensembl chr 7:76,397,518...76,442,071 		JBrowse link
Female sexual dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G 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 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO ORPHA:2828 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		JBrowse link
G 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 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 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 HTRA2 HtrA serine peptidase 2 IAGP HPO ORPHA:2828 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO ORPHA:2828 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G 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 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 PARK7 Parkinsonism associated deglycase IAGP HPO ORPHA:2828 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G PINK1 PTEN induced kinase 1 IAGP HPO ORPHA:2828 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511 		JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:2828 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO ORPHA:2828 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G RTN2 reticulon 2 IAGP HPO ORPHA:100993 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055 		JBrowse link
G SNCA synuclein alpha IAGP HPO ORPHA:2828 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:2828 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G 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 UBAP1 ubiquitin associated protein 1 IAGP HPO ORPHA:100993 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO ORPHA:2828 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO ORPHA:2828 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G 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
Functional abnormality of male internal genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Hypergonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 LEP leptin IAGP HPO ORPHA:66628 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor IAGP HPO 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 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 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 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 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 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 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 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 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 NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:618078 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 ORPHA:347 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G 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 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 PDE6B phosphodiesterase 6B IAGP HPO ORPHA:791 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:251066 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G 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 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 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 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 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 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 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 LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G 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 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 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 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 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 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 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 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 MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO OMIM:600955 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 SEMA3A semaphorin 3A IAGP HPO ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Immotile sperm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER1 cation channel sperm associated 1 IAGP HPO OMIM:612997 NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO OMIM:612997 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO OMIM:613807 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO OMIM:613808 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CDC14A cell division cycle 14A IAGP HPO OMIM:608653 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,345,001...100,520,277 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 IAGP HPO OMIM:618664 NCBI chr 2:219,002,846...219,041,551
Ensembl chr 2:219,002,846...219,041,527 		JBrowse link
G CFAP70 cilia and flagella associated protein 70 IAGP HPO OMIM:618670 NCBI chr10:73,253,762...73,362,979
Ensembl chr10:73,253,762...73,358,864 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO OMIM:614874 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO OMIM:617091 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366 		JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 IAGP HPO OMIM:619102 NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO OMIM:618449 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO OMIM:619585 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO OMIM:612650 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G SPINK2 serine peptidase inhibitor Kazal type 2 IAGP HPO OMIM:618091 NCBI chr 4:56,809,860...56,821,869
Ensembl chr 4:56,809,860...56,821,742 		JBrowse link
G STRC stereocilin IAGP HPO OMIM:612997 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
Impotence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO OMIM:300100 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G 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 ATXN8 ataxin 8 IAGP HPO ORPHA:98760
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO ORPHA:98760 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G 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 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 CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO ORPHA:458803 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G 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 COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO OMIM:146500 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G 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 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 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 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 FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO OMIM:300623 ORPHA:93256 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G 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 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 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 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP HPO OMIM:615750 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO ORPHA:79230 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO OMIM:268800 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO OMIM:235200 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G 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 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 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 KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G LMNB1 lamin B1 IAGP HPO OMIM:169500 ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G 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 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 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 PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:447 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G 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 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 SACS sacsin molecular chaperone IAGP HPO ORPHA:98 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP HPO OMIM:606069 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G 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 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 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 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 SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G 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 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 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 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 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 TTR transthyretin IAGP HPO OMIM:105210 ORPHA:85447 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G 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
Increased female libido term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G 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 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 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 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 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 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 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 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 KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G 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 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 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 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 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 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 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 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
Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G 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 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 BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G 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 CATSPER2 cation channel sperm associated 2 IAGP ClinVar Annotator: match by term: Infertility ClinVar NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390 		JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO OMIM:146110 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:16199547 PMID:21131972 PMID:22693295 PMID:23255504 PMID:25741868 More... NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO OMIM:613808 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CCNO cyclin O IAGP HPO OMIM:615872 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO OMIM:615703 ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G 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 CFAP298 cilia and flagella associated protein 298 IAGP HPO OMIM:615500 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO OMIM:618063 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:1284535 PMID:1379210 PMID:1384326 PMID:1977306 PMID:7508183 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CFTR-AS1 CFTR antisense RNA 1 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:1284535 PMID:1384326 PMID:1977306 PMID:7508183 PMID:7682884 More... NCBI chr 7:117,542,521...117,564,676
Ensembl chr 7:117,560,733...117,564,676 		JBrowse link
G DHH desert hedgehog signaling molecule IAGP HPO ORPHA:168563 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO OMIM:613193 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:28492532 PMID:30300419 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO OMIM:606763 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO OMIM:615482 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:11788826 PMID:16627867 PMID:25741868 PMID:27637300 PMID:28492532 More... NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO OMIM:618300 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO OMIM:146110 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO OMIM:146110 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO OMIM:146110 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:25741868 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G 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 GAS2L2 growth arrest specific 2 like 2 IAGP HPO OMIM:618449 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO OMIM:614409 ORPHA:320391 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO OMIM:146110 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Infertility HPO
ClinVar		 PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 More... OMIM:146110 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G 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 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 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 HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G 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 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 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 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 IAGP HPO OMIM:264300 ORPHA:752 NCBI chr 9:96,235,306...96,302,176
Ensembl chr 9:96,235,306...96,302,176 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LOC111674472 DNase I hypersensitive sites in introns 16 and 17a of CFTR IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:1379210 PMID:8605891 PMID:9921909 PMID:10801389 PMID:10869121 More... NCBI chr 7:117,607,047...117,612,650 JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G 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 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 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 MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G 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 NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO OMIM:615413 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G 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 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 NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:12205563 PMID:12244321 PMID:23559409 PMID:25558065 PMID:25741916 More... NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO OMIM:615962 ORPHA:786 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PADI6 peptidyl arginine deiminase 6 IAGP HPO OMIM:617234 NCBI chr 1:17,372,196...17,401,699
Ensembl chr 1:17,372,196...17,401,699 		JBrowse link
G PLIN1 perilipin 1 IAGP HPO ORPHA:280356 NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427 		JBrowse link
G POLR2C RNA polymerase II subunit C IAGP ClinVar Annotator: match by term: Infertility ClinVar NCBI chr16:57,462,679...57,472,009
Ensembl chr16:57,462,660...57,472,009 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G 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 PROKR2 prokineticin receptor 2 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 More... NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G 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 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 RSPH1 radial spoke head component 1 IAGP HPO OMIM:615481 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO OMIM:616481 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G 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 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO OMIM:146110 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G 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 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 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 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 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 SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO OMIM:146110 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G 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 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 TAC3 tachykinin precursor 3 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:25636053 PMID:28492532 PMID:29419413 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP ClinVar Annotator: match by term: Infertility ClinVar PMID:23265383 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G 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 WDR11 WD repeat domain 11 IAGP HPO OMIM:146110 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO OMIM:615444 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP ClinVar Annotator: match by term: Infertility ClinVar NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Irregular menstruation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO OMIM:102200 ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G 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 ARFGEF1-DT ARFGEF1 divergent transcript IAGP ClinVar Annotator: match by term: Menstrual irregularity ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:67,343,834...67,491,868 JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP HPO ORPHA:189427 NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166 		JBrowse link
G 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 BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO OMIM:615986 ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP HPO OMIM:619203 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G 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 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 CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP HPO OMIM:615238 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CPA6 carboxypeptidase A6 IAGP ClinVar Annotator: match by term: Menstrual irregularity ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:67,422,038...67,746,360
Ensembl chr 8:67,422,038...67,746,378 		JBrowse link
G 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 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 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP HPO OMIM:617565 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G 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 FANCM FA complementation group M IAGP HPO OMIM:618096 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:616482 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO OMIM:311360 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOXL2 forkhead box L2 IAGP HPO OMIM:110100 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:189427 ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein IAGP HPO OMIM:619245 NCBI chr21:43,444,972...43,659,488
Ensembl chr21:43,529,186...43,659,488 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G 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 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 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 NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO OMIM:615962 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G 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 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 PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G 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 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 PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G 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 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO OMIM:616831 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SOST sclerostin IAGP HPO OMIM:269500 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G 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
Lack of oocyte pronucleus formation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WEE2 WEE2 oocyte meiosis inhibiting kinase IAGP HPO OMIM:617996 NCBI chr 7:141,708,353...141,731,271
Ensembl chr 7:141,708,353...141,731,271 		JBrowse link
Male hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139396 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G 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 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 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 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 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 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 CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G DHH desert hedgehog signaling molecule IAGP HPO ORPHA:168563 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Male infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACR acrosin IAGP HPO OMIM:620500 NCBI chr22:50,738,204...50,745,339
Ensembl chr22:50,738,196...50,745,339 		JBrowse link
G ACTL7A actin like 7A IAGP HPO OMIM:620499 NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756 		JBrowse link
G ACTL9 actin like 9 IAGP HPO OMIM:619258 NCBI chr19:8,697,400...8,698,795
Ensembl chr19:8,697,400...8,698,795 		JBrowse link
G ADCY10 adenylate cyclase 10 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215 		JBrowse link
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO OMIM:300985 ORPHA:48 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G AK7 adenylate kinase 7 IAGP HPO OMIM:617965 NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427 		JBrowse link
G AKAP3 A-kinase anchoring protein 3 IAGP HPO OMIM:620353 NCBI chr12:4,615,518...4,649,051
Ensembl chr12:4,615,508...4,649,051 		JBrowse link
G AMELY amelogenin Y-linked IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr  Y:6,865,918...6,911,752
Ensembl chr  Y:6,865,918...6,911,752 		JBrowse link
G AMH anti-Mullerian hormone IAGP HPO OMIM:261550 NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073 		JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 IAGP HPO OMIM:261550 NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672 		JBrowse link
G AR androgen receptor IAGP ClinVar Annotator: match by term: Male infertility HPO
ClinVar		 PMID:1307250 PMID:1430233 PMID:7581399 PMID:7671849 PMID:8097257 More... ORPHA:90797 ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARMC2 armadillo repeat containing 2 IAGP HPO OMIM:618433 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476 		JBrowse link
G AURKC aurora kinase C IAGP HPO OMIM:243060 NCBI chr19:57,231,023...57,235,548
Ensembl chr19:57,231,009...57,235,548 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BPY2 basic charge Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:22,984,263...23,005,465
Ensembl chr  Y:22,973,819...23,005,465 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRDT bromodomain testis associated IAGP HPO OMIM:617644 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 PMID:33389130 OMIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP HPO OMIM:619202 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 IAGP HPO OMIM:619805 NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO OMIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 OMIM:612997 NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 OMIM:611102 OMIM:612997 ORPHA:94064 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP HPO ORPHA:244 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO OMIM:620084 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO OMIM:613807 ORPHA:244 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 PMID:24033266 PMID:25741868 PMID:28492532 ORPHA:244 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CCDC62 coiled-coil domain containing 62 IAGP HPO OMIM:619803 NCBI chr12:122,774,572...122,827,528
Ensembl chr12:122,774,526...122,827,528 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608 		JBrowse link
G CDC14A cell division cycle 14A IAGP HPO OMIM:608653 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,345,001...100,520,277 		JBrowse link
G CDY1 chromodomain Y-linked 1 IAGP HPO OMIM:415000 NCBI chr  Y:25,622,115...25,625,511
Ensembl chr  Y:25,622,117...25,624,902 		JBrowse link
G CDY2A chromodomain Y-linked 2A IAGP HPO OMIM:415000 NCBI chr  Y:18,025,787...18,027,746
Ensembl chr  Y:18,025,787...18,027,746 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP HPO ORPHA:586 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554 		JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP HPO ORPHA:586 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CEP112 centrosomal protein 112 IAGP HPO OMIM:619044 NCBI chr17:65,635,537...66,192,133
Ensembl chr17:65,635,537...66,192,133 		JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251 		JBrowse link
G CFAP251 cilia and flagella associated protein 251 IAGP HPO OMIM:618152 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO ORPHA:244 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP43 cilia and flagella associated protein 43 IAGP HPO OMIM:617592 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364 		JBrowse link
G CFAP44 cilia and flagella associated protein 44 IAGP HPO OMIM:617593 NCBI chr 3:113,286,930...113,441,514
Ensembl chr 3:113,286,930...113,441,610 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP HPO OMIM:301059 NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317 		JBrowse link
G CFAP52 cilia and flagella associated protein 52 IAGP HPO OMIM:619607 NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447 		JBrowse link
G CFAP58 cilia and flagella associated protein 58 IAGP HPO OMIM:619144 NCBI chr10:104,338,520...104,455,102
Ensembl chr10:104,353,833...104,455,102 		JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO OMIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 IAGP HPO OMIM:618664 NCBI chr 2:219,002,846...219,041,551
Ensembl chr 2:219,002,846...219,041,527 		JBrowse link
G CFAP70 cilia and flagella associated protein 70 IAGP HPO OMIM:618670 NCBI chr10:73,253,762...73,362,979
Ensembl chr10:73,253,762...73,358,864 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO OMIM:620197 ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 PMID:7586569 PMID:7739684 PMID:9804160 PMID:11180668 PMID:11547256 More... OMIM:277180 ORPHA:48 ORPHA:586 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLCA4 chloride channel accessory 4 IAGP HPO ORPHA:586 NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754 		JBrowse link
G CLDN2 claudin 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 PMID:31320686 OMIM:301060 NCBI chr  X:106,900,164...106,930,861
Ensembl chr  X:106,900,164...106,930,861 		JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO OMIM:301106 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G 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 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 CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO ORPHA:91 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DAZ1 deleted in azoospermia 1 IAGP HPO OMIM:415000 ORPHA:1646 NCBI chr  Y:23,129,355...23,199,094
Ensembl chr  Y:23,129,355...23,199,010 		JBrowse link
G DAZ2 deleted in azoospermia 2 IAGP HPO OMIM:415000 ORPHA:1646 NCBI chr  Y:23,219,457...23,291,356
Ensembl chr  Y:23,219,447...23,291,356 		JBrowse link
G DAZ3 deleted in azoospermia 3 IAGP HPO OMIM:415000 ORPHA:1646 NCBI chr  Y:24,763,069...24,813,393
Ensembl chr  Y:24,763,069...24,813,492 		JBrowse link
G DAZ4 deleted in azoospermia 4 IAGP HPO ORPHA:1646 NCBI chr  Y:24,833,820...24,907,040
Ensembl chr  Y:24,833,843...24,907,040 		JBrowse link
G DCAF6 DDB1 and CUL4 associated factor 6 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 1:167,863,576...168,075,836
Ensembl chr 1:167,935,783...168,075,843 		JBrowse link
G DCTN4 dynactin subunit 4 IAGP HPO ORPHA:586 NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,708,440...150,759,095 		JBrowse link
G DDX3Y DEAD-box helicase 3 Y-linked IAGP HPO OMIM:415000 ORPHA:1646 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G 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 DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO OMIM:614935 ORPHA:244 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO ORPHA:244 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO ORPHA:244 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO ORPHA:244 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO OMIM:614874 ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO OMIM:300991 ORPHA:244 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO OMIM:617576 ORPHA:244 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 OMIM:619515 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 PMID:22184204 PMID:25741868 ORPHA:244 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP HPO OMIM:618643 NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP HPO OMIM:619094 NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 PMID:11788826 PMID:16627867 PMID:19357118 PMID:25741868 PMID:28492532 More... ORPHA:244 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP HPO OMIM:620356 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837 		JBrowse link
G DNAH8 dynein axonemal heavy chain 8 IAGP HPO OMIM:619095 NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO ORPHA:244 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:244400 ORPHA:244 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO OMIM:612444 ORPHA:244 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO OMIM:617091 ORPHA:244 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366 		JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP HPO ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732 		JBrowse link
G DNALI1 dynein axonemal light intermediate chain 1 IAGP HPO OMIM:620354 NCBI chr 1:37,556,940...37,566,857
Ensembl chr 1:37,556,919...37,566,857 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO OMIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G DPY19L2 dpy-19 like 2 IAGP HPO OMIM:613958 NCBI chr12:63,558,913...63,668,805
Ensembl chr12:63,558,913...63,668,939 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO OMIM:620222 ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 IAGP HPO OMIM:619102 NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO ORPHA:586 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G 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 FANCM FA complementation group M IAGP HPO OMIM:618086 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO OMIM:619696 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 PMID:25741868 PMID:36150389 OMIM:620103 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP HPO OMIM:618153 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290 		JBrowse link
G GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 7:151,956,446...152,019,929
Ensembl chr 7:151,956,379...152,019,929 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:586 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO ORPHA:2239 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP HPO OMIM:301077 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		JBrowse link
G GGN gametogenetin IAGP HPO OMIM:619826 NCBI chr19:38,384,267...38,388,384
Ensembl chr19:38,384,267...38,388,082 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IAGP HPO ORPHA:586 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:586 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO ORPHA:586 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HORMAD1 HORMA domain containing 1 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:25741868 NCBI chr 1:150,698,060...150,720,895
Ensembl chr 1:150,698,060...150,720,895 		JBrowse link
G HOXD13 homeobox D13 IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:22233338 PMID:25741868 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HSFY1 heat shock transcription factor Y-linked 1 IAGP HPO OMIM:415000 NCBI chr  Y:18,529,643...18,588,963
Ensembl chr  Y:18,546,691...18,588,963 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO OMIM:619585 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IQCN IQ motif containing N IAGP HPO OMIM:620170 NCBI chr19:18,257,098...18,274,452
Ensembl chr19:18,257,098...18,274,500 		JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO OMIM:620547 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:586 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G KCNU1 potassium calcium-activated channel subfamily U member 1 IAGP HPO OMIM:620196 NCBI chr 8:36,784,374...36,936,125
Ensembl chr 8:36,784,324...36,936,125 		JBrowse link
G KDM5D lysine demethylase 5D IAGP HPO OMIM:415000 NCBI chr  Y:19,703,865...19,744,726
Ensembl chr  Y:19,703,865...19,744,939 		JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO OMIM:615081 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G KLK14 kallikrein related peptidase 14 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr19:51,077,494...51,084,210
Ensembl chr19:51,077,495...51,084,245 		JBrowse link
G KLK4 kallikrein related peptidase 4 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395 		JBrowse link
G 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 LOC109504725 androgen receptor repeat instability region IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:24033266 PMID:25741868 PMID:36572623 NCBI chr  X:67,545,317...67,545,419 JBrowse link
G LOC126861667 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124402328-124403527 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr12:123,917,781...123,918,980 JBrowse link
G LOC130056949 ATAC-STARR-seq lymphoblastoid active region 9317 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr15:43,638,676...43,639,205 JBrowse link
G LOC130066680 ATAC-STARR-seq lymphoblastoid silent region 13322 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr21:39,312,826...39,312,905 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G M1AP meiosis 1 associated protein IAGP HPO OMIM:619108 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G 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 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 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO OMIM:617706 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,872,178 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:586 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MNS1 meiosis specific nuclear structural 1 IAGP HPO OMIM:618948 NCBI chr15:56,428,724...56,465,137
Ensembl chr15:56,421,544...56,465,137 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP HPO OMIM:619878 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO OMIM:108420 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP HPO OMIM:619937 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Male infertility ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ClinVar Annotator: match by term: Male infertility HPO
ClinVar		 PMID:17940071 PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 More... ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 ORPHA:244 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP HPO ORPHA:244 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO ORPHA:244 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:244 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO OMIM:619828 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PLCZ1 phospholipase C zeta 1 IAGP HPO OMIM:617214 NCBI chr12:18,645,609...18,738,012
Ensembl chr12:18,683,169...18,738,100 		JBrowse link
G PMFBP1 polyamine modulated factor 1 binding protein 1 IAGP HPO OMIM:618112 ORPHA:529970 NCBI chr16:72,116,657...72,249,949
Ensembl chr16:72,112,157...72,176,878 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO OMIM:619528 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO OMIM:618420 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRY PTPN13 like Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:22,490,397...22,514,637
Ensembl chr  Y:22,490,397...22,514,637 		JBrowse link
G PRY2 PTPN13 like Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:22,071,756...22,096,007
Ensembl chr  Y:22,071,756...22,096,007 		JBrowse link
G 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 QRICH2 glutamine rich 2 IAGP HPO OMIM:618341 NCBI chr17:76,274,049...76,310,964
Ensembl chr17:76,274,049...76,308,276 		JBrowse link
G RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 IAGP HPO OMIM:415000 ORPHA:1646 NCBI chr  Y:21,534,879...21,559,683
Ensembl chr  Y:21,534,879...21,549,326 		JBrowse link
G RNF212 ring finger protein 212 IAGP HPO OMIM:619673 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO OMIM:619689 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G RPS4Y2 ribosomal protein S4 Y-linked 2 IAGP HPO OMIM:415000 NCBI chr  Y:20,756,108...20,781,032
Ensembl chr  Y:20,756,108...20,781,032 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO ORPHA:244 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO ORPHA:244 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO ORPHA:244 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G SEPTIN12 septin 12 IAGP HPO OMIM:614822 NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:586 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO OMIM:619949 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP HPO ORPHA:586 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC26A8 solute carrier family 26 member 8 IAGP HPO OMIM:606766 NCBI chr 6:35,943,516...36,024,641
Ensembl chr 6:35,943,516...36,024,868 		JBrowse link
G SLC26A9 solute carrier family 26 member 9 IAGP HPO ORPHA:586 NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460 		JBrowse link
G SLC6A14 solute carrier family 6 member 14 IAGP HPO ORPHA:586 NCBI chr  X:116,436,606...116,461,458
Ensembl chr  X:116,436,606...116,461,458 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP HPO ORPHA:586 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO OMIM:618115 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SOX30 SRY-box transcription factor 30 IAGP ClinVar Annotator: match by term: Male infertility ClinVar NCBI chr 5:157,625,679...157,671,480
Ensembl chr 5:157,625,679...157,671,480 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPACA1 sperm acrosome associated 1 IAGP HPO OMIM:620490 NCBI chr 6:88,046,901...88,066,838
Ensembl chr 6:88,047,841...88,066,838 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO OMIM:619380 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G SPATA16 spermatogenesis associated 16 IAGP HPO OMIM:102530 NCBI chr 3:172,889,357...173,141,235
Ensembl chr 3:172,889,357...173,141,235 		JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO OMIM:618751 ORPHA:244 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611 		JBrowse link
G SPINK2 serine peptidase inhibitor Kazal type 2 IAGP HPO OMIM:618091 NCBI chr 4:56,809,860...56,821,869
Ensembl chr 4:56,809,860...56,821,742 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G SSX1 SSX family member 1 IAGP HPO OMIM:301099 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO OMIM:619672 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G STRC stereocilin IAGP HPO OMIM:611102 OMIM:612997 ORPHA:94064 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:586 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SUN5 Sad1 and UNC84 domain containing 5 IAGP HPO OMIM:617187 ORPHA:529970 NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO OMIM:616950 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP HPO OMIM:258150 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 OMIM:270960 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO OMIM:615841 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO OMIM:618110 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TEKT3 tektin 3 IAGP HPO OMIM:620277 NCBI chr17:15,303,812...15,343,671
Ensembl chr17:15,303,811...15,341,632 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP HPO OMIM:619646 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO OMIM:619645 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP HPO OMIM:309120 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP HPO OMIM:617707 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO OMIM:617960 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:219700 ORPHA:586 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TSGA10 testis specific 10 IAGP HPO OMIM:617961 NCBI chr 2:98,997,261...99,154,966
Ensembl chr 2:98,997,261...99,154,964 		JBrowse link
G TSPY1 testis specific protein Y-linked 1 IAGP HPO ORPHA:1646 NCBI chr  Y:9,466,955...9,469,749
Ensembl chr  Y:9,466,955...9,469,749 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO OMIM:618801 ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544 		JBrowse link
G TTC21A tetratricopeptide repeat domain 21A IAGP HPO OMIM:618429 NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903 		JBrowse link
G TTC29 tetratricopeptide repeat domain 29 IAGP HPO OMIM:618745 NCBI chr 4:146,706,617...146,945,864
Ensembl chr 4:146,706,617...146,945,882 		JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO OMIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109 		JBrowse link
G USP9Y ubiquitin specific peptidase 9 Y-linked IAGP HPO OMIM:415000 ORPHA:1646 NCBI chr  Y:12,701,231...12,860,839
Ensembl chr  Y:12,537,650...12,860,839 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G VCY variable charge Y-linked IAGP HPO OMIM:415000 NCBI chr  Y:13,985,772...13,986,473
Ensembl chr  Y:13,985,772...13,986,473 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:619867 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:251510 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G XKRY XK related, Y-linked (pseudogene) IAGP HPO OMIM:415000 NCBI chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO OMIM:619145 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP ClinVar Annotator: match by term: Male infertility ClinVar
HPO		 OMIM:615842 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
G ZPBP zona pellucida binding protein IAGP HPO OMIM:619799 NCBI chr 7:49,840,654...50,093,246
Ensembl chr 7:49,850,421...50,121,329 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO OMIM:619831 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Male sexual dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G AR androgen receptor IAGP HPO ORPHA:90797 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G 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 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO ORPHA:2828 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		JBrowse link
G 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 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 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 HTRA2 HtrA serine peptidase 2 IAGP HPO ORPHA:2828 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO ORPHA:2828 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G 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 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 PARK7 Parkinsonism associated deglycase IAGP HPO ORPHA:2828 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G PINK1 PTEN induced kinase 1 IAGP HPO ORPHA:2828 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511 		JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:2828 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO ORPHA:2828 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G RTN2 reticulon 2 IAGP HPO ORPHA:100993 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055 		JBrowse link
G SNCA synuclein alpha IAGP HPO ORPHA:2828 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:2828 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G 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 UBAP1 ubiquitin associated protein 1 IAGP HPO ORPHA:100993 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO ORPHA:2828 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO ORPHA:2828 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G 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
Menometrorrhagia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGA fibrinogen alpha chain IAGP HPO ORPHA:98880 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FGB fibrinogen beta chain IAGP HPO ORPHA:98880 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807 		JBrowse link
G FGG fibrinogen gamma chain IAGP HPO ORPHA:98880 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
Menorrhagia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 IAGP HPO OMIM:614077 NCBI chr19:45,178,784...45,217,083
Ensembl chr19:45,178,784...45,216,933 		JBrowse link
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 IAGP HPO OMIM:619172 NCBI chr 6:8,013,567...8,064,414
Ensembl chr 6:8,013,567...8,064,396 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO OMIM:124900 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DTNBP1 dystrobrevin binding protein 1 IAGP HPO OMIM:614076 NCBI chr 6:15,522,807...15,663,058
Ensembl chr 6:15,522,807...15,663,058 		JBrowse link
G F10 coagulation factor X IAGP HPO OMIM:227600 ORPHA:328 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529 		JBrowse link
G F11 coagulation factor XI IAGP HPO ORPHA:329 NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681 		JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO ORPHA:331 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F13B coagulation factor XIII B chain IAGP HPO ORPHA:331 NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260 		JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO OMIM:613679 ORPHA:325 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP HPO OMIM:227400 ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G F7 coagulation factor VII IAGP HPO OMIM:227500 ORPHA:327 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:177926 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO OMIM:617443 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO OMIM:153670 OMIM:231200 ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO OMIM:231200 ORPHA:274 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP6 glycoprotein VI platelet IAGP HPO OMIM:614201 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G GP9 glycoprotein IX platelet IAGP HPO OMIM:231200 ORPHA:274 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 IAGP HPO OMIM:614073 NCBI chr22:26,443,109...26,483,863
Ensembl chr22:26,443,107...26,483,931 		JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 IAGP HPO OMIM:614074 NCBI chr11:18,278,670...18,322,174
Ensembl chr11:18,278,668...18,322,198 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO OMIM:273800 ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO OMIM:619267 OMIM:619271 ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP HPO ORPHA:35909 NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP HPO OMIM:613625 ORPHA:35909 NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP HPO OMIM:155100 ORPHA:182050 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO OMIM:139090 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP HPO OMIM:601709 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PRKACG protein kinase cAMP-activated catalytic subunit gamma IAGP HPO OMIM:616176 NCBI chr 9:69,012,504...69,014,113
Ensembl chr 9:69,012,504...69,014,113 		JBrowse link
G PRLR prolactin receptor IAGP HPO OMIM:615555 ORPHA:397685 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G PTPRJ protein tyrosine phosphatase receptor type J IAGP HPO OMIM:620484 NCBI chr11:47,980,559...48,170,839
Ensembl chr11:47,980,425...48,170,839 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 IAGP HPO OMIM:615888 NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,911...64,745,456 		JBrowse link
G SERPINE1 serpin family E member 1 IAGP HPO OMIM:613329 ORPHA:465 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLFN14 schlafen family member 14 IAGP HPO OMIM:616913 NCBI chr17:35,543,985...35,560,819
Ensembl chr17:35,543,985...35,560,819 		JBrowse link
G TPM4 tropomyosin 4 IAGP HPO OMIM:620486 NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,002 		JBrowse link
G VWF von Willebrand factor IAGP HPO OMIM:193400 OMIM:277480 OMIM:613554 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
Metrorrhagia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP HPO ORPHA:520 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP HPO ORPHA:520 NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382 		JBrowse link
G 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 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 IAGP HPO OMIM:614074 NCBI chr11:18,278,670...18,322,174
Ensembl chr11:18,278,668...18,322,198 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:520 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178 		JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP HPO ORPHA:520 NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:520 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP HPO ORPHA:520 NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G PML PML nuclear body scaffold IAGP HPO ORPHA:520 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:520 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RARA retinoic acid receptor alpha IAGP HPO ORPHA:520 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:520 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO ORPHA:520 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO ORPHA:520 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP HPO ORPHA:520 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765 		JBrowse link
Non-obstructive azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC009123.1 novel transcript, antisense to ADAD2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,192,558...84,197,053
Ensembl chr16:84,192,558...84,197,053 		JBrowse link
G ADAD2 adenosine deaminase domain containing 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,191,157...84,197,166
Ensembl chr16:84,191,138...84,197,168 		JBrowse link
G AR androgen receptor IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:36572623 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Testicular azoospermia ClinVar PMID:33508233 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO ORPHA:399805 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO ORPHA:399805 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:399805 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G 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 CT55 cancer/testis antigen 55 IAGP HPO ORPHA:399805 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G DAZ1 deleted in azoospermia 1 IAGP HPO ORPHA:1646 NCBI chr  Y:23,129,355...23,199,094
Ensembl chr  Y:23,129,355...23,199,010 		JBrowse link
G DAZ2 deleted in azoospermia 2 IAGP HPO ORPHA:1646 NCBI chr  Y:23,219,457...23,291,356
Ensembl chr  Y:23,219,447...23,291,356 		JBrowse link
G DAZ3 deleted in azoospermia 3 IAGP HPO ORPHA:1646 NCBI chr  Y:24,763,069...24,813,393
Ensembl chr  Y:24,763,069...24,813,492 		JBrowse link
G DAZ4 deleted in azoospermia 4 IAGP HPO ORPHA:1646 NCBI chr  Y:24,833,820...24,907,040
Ensembl chr  Y:24,833,843...24,907,040 		JBrowse link
G DDX3Y DEAD-box helicase 3 Y-linked IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 ORPHA:1646 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO ORPHA:399805 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO ORPHA:399805 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:10647011 PMID:11102980 PMID:11919202 PMID:15580563 PMID:25741868 More... NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G 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 FANCM FA complementation group M IAGP HPO OMIM:618086 ORPHA:399805 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO ORPHA:399805 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G 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 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 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 FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24258212 PMID:25741868 PMID:28492532 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:33963445 PMID:34413498 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		JBrowse link
G 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 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 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 KASH5 KASH domain containing 5 IAGP HPO OMIM:620547 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G KLHL10 kelch like family member 10 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31479588 ORPHA:399805 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G LOC126862424 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr16:84,194,306...84,195,505 JBrowse link
G LOC130001446 ATAC-STARR-seq lymphoblastoid active region 28121 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr 9:893,926...894,245 JBrowse link
G M1AP meiosis 1 associated protein IAGP ClinVar Annotator: match by term: Testicular azoospermia
ClinVar Annotator: match by term: Non-obstructive azoospermia		 ClinVar PMID:25741868 PMID:32673564 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP ClinVar Annotator: match by term: Testicular azoospermia ClinVar PMID:25480036 PMID:25741868 PMID:31042289 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO OMIM:617706 ORPHA:399805 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,872,178 		JBrowse link
G MON1B MON1 homolog B, secretory trafficking associated IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:77,191,190...77,202,398
Ensembl chr16:77,190,835...77,202,398 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:35476666 OMIM:619878 ORPHA:399805 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:33448284 PMID:34755185 OMIM:108420 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:34755185 OMIM:619937 ORPHA:399805 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:34755185 NCBI chr 6:31,739,948...31,764,850
Ensembl chr 6:31,740,020...31,764,851 		JBrowse link
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO ORPHA:399805 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		JBrowse link
G 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 NPAS2 neuronal PAS domain protein 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 2:100,818,723...100,996,829
Ensembl chr 2:100,820,139...100,996,829 		JBrowse link
G NPAS2-AS1 NPAS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 2:100,972,648...100,977,161 JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:18414213 PMID:20887963 PMID:25741868 PMID:25989977 PMID:28492532 More... ORPHA:399805 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G 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 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO ORPHA:399805 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 OMIM:619528 ORPHA:399805 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G 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 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 RAD21L1 RAD21 cohesin complex component like 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:1,226,044...1,255,876
Ensembl chr20:1,226,044...1,296,421 		JBrowse link
G RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 IAGP HPO ORPHA:1646 NCBI chr  Y:21,534,879...21,559,683
Ensembl chr  Y:21,534,879...21,549,326 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31479588 NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G RNF212 ring finger protein 212 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 OMIM:619673 ORPHA:399805 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO ORPHA:399805 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO OMIM:619949 ORPHA:399805 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO OMIM:618115 ORPHA:399805 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO ORPHA:399805 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G SPINK2 serine peptidase inhibitor Kazal type 2 IAGP HPO OMIM:618091 NCBI chr 4:56,809,860...56,821,869
Ensembl chr 4:56,809,860...56,821,742 		JBrowse link
G SPO11 SPO11 initiator of meiotic double strand breaks IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr20:57,329,803...57,343,993
Ensembl chr20:57,329,803...57,343,994 		JBrowse link
G 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 STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:31682730 PMID:35176428 OMIM:619672 ORPHA:399805 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO OMIM:616950 ORPHA:399805 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCE1L synaptonemal complex central element protein 1 like IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:77,199,408...77,213,215
Ensembl chr16:77,199,408...77,213,215 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP ClinVar Annotator: match by term: Testicular azoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO ORPHA:399805 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G 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 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 TAF4B TATA-box binding protein associated factor 4b IAGP HPO ORPHA:399805 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO ORPHA:399805 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:33211200 OMIM:619646 ORPHA:399805 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 OMIM:619645 ORPHA:399805 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25970010 PMID:28132688 ORPHA:399805 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31479588 ORPHA:399805 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31479588 OMIM:617960 ORPHA:399805 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TRIM71 tripartite motif containing 71 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824 		JBrowse link
G TSPY1 testis specific protein Y-linked 1 IAGP HPO ORPHA:1646 NCBI chr  Y:9,466,955...9,469,749
Ensembl chr  Y:9,466,955...9,469,749 		JBrowse link
G USP9Y ubiquitin specific peptidase 9 Y-linked IAGP HPO ORPHA:1646 NCBI chr  Y:12,701,231...12,860,839
Ensembl chr  Y:12,537,650...12,860,839 		JBrowse link
G 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 XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:399805 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 ORPHA:399805 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar
HPO		 PMID:25741868 PMID:32719396 PMID:33713115 OMIM:619831 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Obstructive azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO ORPHA:48 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO ORPHA:399805 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO ORPHA:399805 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar
HPO		 PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 More... ORPHA:399805 ORPHA:48 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CFTR-AS1 CFTR antisense RNA 1 IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1284535 PMID:1370875 PMID:1377276 PMID:1379413 PMID:1380673 More... NCBI chr 7:117,542,521...117,564,676
Ensembl chr 7:117,560,733...117,564,676 		JBrowse link
G CLDN2 claudin 2 IAGP HPO OMIM:301060 NCBI chr  X:106,900,164...106,930,861
Ensembl chr  X:106,900,164...106,930,861 		JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO ORPHA:399805 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO ORPHA:399805 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO ORPHA:399805 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:399805 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO ORPHA:399805 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO ORPHA:399805 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G LOC111674472 DNase I hypersensitive sites in introns 16 and 17a of CFTR IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:1284534 PMID:1379210 PMID:7512860 PMID:7529319 PMID:7539342 More... NCBI chr 7:117,607,047...117,612,650 JBrowse link
G LOC113664106 CFTR intron 2 DNase I hypersensitive site IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:23974870 PMID:25741868 PMID:28603918 NCBI chr 7:117,508,463...117,509,063 JBrowse link
G LOC113664107 CFTR intron 3 DNase I hypersensitive site IAGP ClinVar Annotator: match by term: Obstructive azoospermia ClinVar PMID:23974870 PMID:25741868 PMID:28603918 NCBI chr 7:117,509,543...117,510,143 JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO ORPHA:399805 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,872,178 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP HPO ORPHA:399805 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH5 mutS homolog 5 IAGP HPO ORPHA:399805 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO ORPHA:399805 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:399805 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO ORPHA:399805 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO ORPHA:399805 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G RNF212 ring finger protein 212 IAGP HPO ORPHA:399805 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO ORPHA:399805 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO ORPHA:399805 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO ORPHA:399805 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO ORPHA:399805 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO ORPHA:399805 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO ORPHA:399805 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO ORPHA:399805 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO ORPHA:399805 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO ORPHA:399805 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP HPO ORPHA:399805 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO ORPHA:399805 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP HPO ORPHA:399805 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP HPO ORPHA:399805 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO ORPHA:399805 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:399805 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO ORPHA:399805 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
Oligomenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 AIP aryl hydrocarbon receptor interacting protein IAGP HPO OMIM:219090 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP HPO ORPHA:79085 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G 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 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 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 CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP HPO ORPHA:435651 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO OMIM:604928 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:616946 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FANCM FA complementation group M IAGP HPO OMIM:618096 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G 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 FOXL2 forkhead box L2 IAGP HPO ORPHA:572333 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137 		JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G 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 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 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 IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G 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 LIPE lipase E, hormone sensitive type IAGP HPO ORPHA:435660 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO OMIM:176270 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G 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 MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G MSH5 mutS homolog 5 IAGP HPO OMIM:617442 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G 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 NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:786 ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G 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 PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G 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 PLIN1 perilipin 1 IAGP HPO OMIM:613877 ORPHA:280356 NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO OMIM:604367 ORPHA:528 ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PRLR prolactin receptor IAGP HPO OMIM:615555 ORPHA:397685 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G 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 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 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 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 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 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 TP53 tumor protein p53 IAGP HPO ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TPR translocated promoter region, nuclear basket protein IAGP HPO OMIM:620393 NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO OMIM:219090 ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
Oligozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO ORPHA:48 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G 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 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 ARMC2 armadillo repeat containing 2 IAGP HPO OMIM:618433 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP HPO OMIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO OMIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP HPO OMIM:612997 NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO OMIM:612997 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO OMIM:620084 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO OMIM:615703 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP HPO OMIM:301059 NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317 		JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO OMIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 IAGP HPO OMIM:618664 NCBI chr 2:219,002,846...219,041,551
Ensembl chr 2:219,002,846...219,041,527 		JBrowse link
G CFAP70 cilia and flagella associated protein 70 IAGP HPO OMIM:618670 NCBI chr10:73,253,762...73,362,979
Ensembl chr10:73,253,762...73,358,864 		JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO OMIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:48 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G 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 DAZ1 deleted in azoospermia 1 IAGP HPO ORPHA:1646 NCBI chr  Y:23,129,355...23,199,094
Ensembl chr  Y:23,129,355...23,199,010 		JBrowse link
G DAZ2 deleted in azoospermia 2 IAGP HPO ORPHA:1646 NCBI chr  Y:23,219,457...23,291,356
Ensembl chr  Y:23,219,447...23,291,356 		JBrowse link
G DAZ3 deleted in azoospermia 3 IAGP HPO ORPHA:1646 NCBI chr  Y:24,763,069...24,813,393
Ensembl chr  Y:24,763,069...24,813,492 		JBrowse link
G DAZ4 deleted in azoospermia 4 IAGP HPO ORPHA:1646 NCBI chr  Y:24,833,820...24,907,040
Ensembl chr  Y:24,833,843...24,907,040 		JBrowse link
G DDX3Y DEAD-box helicase 3 Y-linked IAGP HPO ORPHA:1646 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO OMIM:619515 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP HPO OMIM:618643 NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO OMIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO OMIM:620222 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 IAGP HPO OMIM:619102 NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706 		JBrowse link
G FAM83F family with sequence similarity 83 member F IAGP ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 NCBI chr22:39,994,954...40,043,534
Ensembl chr22:39,994,954...40,043,534 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO OMIM:619696 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO OMIM:620103 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G HOXD13 homeobox D13 IAGP ClinVar Annotator: match by term: Oligospermia ClinVar PMID:22233338 PMID:25741868 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO OMIM:619585 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G KCNU1 potassium calcium-activated channel subfamily U member 1 IAGP HPO OMIM:620196 NCBI chr 8:36,784,374...36,936,125
Ensembl chr 8:36,784,324...36,936,125 		JBrowse link
G KIF3B kinesin family member 3B IAGP ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr20:32,277,651...32,335,011
Ensembl chr20:32,277,651...32,335,011 		JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO OMIM:615081 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G 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 M1AP meiosis 1 associated protein IAGP HPO OMIM:619108 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Oligospermia ClinVar
HPO		 PMID:25741868 PMID:33448284 OMIM:108420 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO OMIM:300200 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G 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 NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO OMIM:613957 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO OMIM:619828 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G 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 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO OMIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G 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 RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 IAGP HPO ORPHA:1646 NCBI chr  Y:21,534,879...21,559,683
Ensembl chr  Y:21,534,879...21,549,326 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO OMIM:619689 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G SEPTIN12 septin 12 IAGP HPO OMIM:614822 NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398 		JBrowse link
G STRC stereocilin IAGP HPO OMIM:612997 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G 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
G SYCP2 synaptonemal complex protein 2 IAGP HPO OMIM:258150 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G TBC1D25 TBC1 domain family member 25 IAGP ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr  X:48,539,714...48,562,609
Ensembl chr  X:48,539,714...48,562,609 		JBrowse link
G TEKT3 tektin 3 IAGP HPO OMIM:620277 NCBI chr17:15,303,812...15,343,671
Ensembl chr17:15,303,811...15,341,632 		JBrowse link
G TSPY1 testis specific protein Y-linked 1 IAGP HPO ORPHA:1646 NCBI chr  Y:9,466,955...9,469,749
Ensembl chr  Y:9,466,955...9,469,749 		JBrowse link
G USP9Y ubiquitin specific peptidase 9 Y-linked IAGP HPO ORPHA:1646 NCBI chr  Y:12,701,231...12,860,839
Ensembl chr  Y:12,537,650...12,860,839 		JBrowse link
Oocyte arrest at metaphase I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PANX1 pannexin 1 IAGP HPO ORPHA:488191 NCBI chr11:94,128,841...94,181,968
Ensembl chr11:94,128,841...94,181,968 		JBrowse link
G PATL2 PAT1 homolog 2 IAGP HPO OMIM:617743 ORPHA:488191 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO OMIM:619011 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TUBB8 tubulin beta 8 class VIII IAGP HPO OMIM:616780 ORPHA:488191 NCBI chr10:46,455...76,621
Ensembl chr10:46,888...74,163 		JBrowse link
G WEE2 WEE2 oocyte meiosis inhibiting kinase IAGP HPO ORPHA:488191 NCBI chr 7:141,708,353...141,731,271
Ensembl chr 7:141,708,353...141,731,271 		JBrowse link
Oocyte maturation arrest term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC20 cell division cycle 20 IAGP HPO OMIM:620276 NCBI chr 1:43,358,981...43,363,203
Ensembl chr 1:43,358,981...43,363,203 		JBrowse link
Premature ovarian insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADAC arylacetamide deacetylase IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:21681106 PMID:25666259 NCBI chr 3:151,814,116...151,828,488
Ensembl chr 3:151,814,073...151,828,488 		JBrowse link
G AADACL2-AS1 AADACL2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:21681106 PMID:25666259 NCBI chr 3:151,751,179...151,928,175
Ensembl chr 3:151,751,443...151,928,175 		JBrowse link
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:615889 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ACKR3 atypical chemokine receptor 3 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:236,537,122...236,582,354
Ensembl chr 2:236,567,787...236,582,354 		JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088 		JBrowse link
G ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:65,148,738...65,481,920
Ensembl chr 5:65,148,738...65,481,920 		JBrowse link
G AFF2 ALF transcription elongation factor 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr  X:148,500,617...149,000,663
Ensembl chr  X:148,500,617...149,000,663 		JBrowse link
G AFP alpha fetoprotein IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G AGK acylglycerol kinase IAGP HPO OMIM:212350 NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244 		JBrowse link
G 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 AMHR2 anti-Mullerian hormone receptor type 2 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO OMIM:618625 ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G ANAPC7 anaphase promoting complex subunit 7 IAGP HPO OMIM:619699 NCBI chr12:110,372,900...110,403,708
Ensembl chr12:110,372,900...110,403,730 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G ATG2A autophagy related 2A IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:64,894,546...64,917,209
Ensembl chr11:64,894,546...64,917,209 		JBrowse link
G ATG7 autophagy related 7 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665 		JBrowse link
G ATG9B autophagy related 9B IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:151,012,209...151,024,499
Ensembl chr 7:151,012,209...151,024,499 		JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO ORPHA:101006 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMAL1 basic helix-loop-helix ARNT like 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:13,276,652...13,387,266
Ensembl chr11:13,276,652...13,387,266 		JBrowse link
G 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 BMP6 bone morphogenetic protein 6 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar
HPO		 PMID:25741868 OMIM:618723 ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664 		JBrowse link
G BRD3 bromodomain containing 3 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:134,030,305...134,068,548
Ensembl chr 9:134,030,305...134,068,535 		JBrowse link
G BRDT bromodomain testis associated IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP HPO OMIM:619203 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G C3 complement C3 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CAMSAP2 calmodulin regulated spectrin associated protein family member 2 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:200,738,893...200,860,704
Ensembl chr 1:200,738,893...200,860,704 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CCNT2 cyclin T2 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:134,918,822...134,959,342
Ensembl chr 2:134,918,235...134,959,342 		JBrowse link
G CDC7 cell division cycle 7 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:91,500,851...91,525,764
Ensembl chr 1:91,500,851...91,525,764 		JBrowse link
G CENPI centromere protein I IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:101,098,204...101,181,859
Ensembl chr  X:101,098,188...101,166,126 		JBrowse link
G CEP164 centrosomal protein 164 IAGP HPO ORPHA:3156 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:3156 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:20713355 PMID:22114986 PMID:25503501 PMID:25619829 PMID:25741868 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CHP1 calcineurin like EF-hand protein 1 IAGP HPO OMIM:618438 NCBI chr15:41,231,268...41,281,887
Ensembl chr15:41,230,839...41,281,887 		JBrowse link
G CKB creatine kinase B IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr14:103,519,667...103,522,830
Ensembl chr14:103,519,667...103,522,833 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CROCC ciliary rootlet coiled-coil, rootletin IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:16,914,085...16,972,964
Ensembl chr 1:16,740,273...16,972,964 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:34480478 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:20048079 PMID:25741868 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO OMIM:241080 ORPHA:3464 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G DDI1 DNA damage inducible 1 homolog 1 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr11:104,036,640...104,039,196
Ensembl chr11:104,036,640...104,039,196 		JBrowse link
G DIAPH2 diaphanous related formin 2 IAGP HPO OMIM:300511 NCBI chr  X:96,684,842...97,604,997
Ensembl chr  X:96,684,712...97,604,997 		JBrowse link
G DMC1 DNA meiotic recombinase 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr22:38,509,147...38,570,183
Ensembl chr22:38,518,948...38,570,204 		JBrowse link
G DMRT3 doublesex and mab-3 related transcription factor 3 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar Annotator: match by term: Premature menopause		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH6 dynein axonemal heavy chain 6 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:84,459,572...84,819,589
Ensembl chr 2:84,516,455...84,819,589 		JBrowse link
G DPPA2 developmental pluripotency associated 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:109,293,788...109,316,517
Ensembl chr 3:109,293,788...109,316,517 		JBrowse link
G 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 EIF2B2 eukaryotic translation initiation factor 2B subunit beta IAGP ClinVar Annotator: match by term: Premature menopause
ClinVar Annotator: match by term: Premature ovarian insufficiency		 HPO
ClinVar		 PMID:11704758 PMID:12707859 PMID:15054402 PMID:21560189 PMID:22992991 More... OMIM:620312 NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP HPO OMIM:617565 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO OMIM:610965 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6L2 ERCC excision repair 6 like 2 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:24507776 PMID:25741868 PMID:27185855 PMID:28492532 PMID:29146883 More... NCBI chr 9:95,875,691...96,041,092
Ensembl chr 9:95,871,264...96,121,154 		JBrowse link
G ESRRB estrogen related receptor beta IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837 		JBrowse link
G ESRRG estrogen related receptor gamma IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:216,503,246...217,137,702
Ensembl chr 1:216,503,246...217,137,755 		JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:28687356 PMID:28767289 PMID:33762291 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCL FA complementation group L IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:19405097 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 More... NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor IAGP HPO OMIM:612310 NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO OMIM:300623 OMIM:311360 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOXK2 forkhead box K2 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr17:82,519,732...82,604,602
Ensembl chr17:82,519,713...82,644,662 		JBrowse link
G FOXL2 forkhead box L2 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar
HPO		 PMID:25741868 OMIM:110100 OMIM:608996 ORPHA:572333 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452 		JBrowse link
G 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 GALT galactose-1-phosphate uridylyltransferase IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar
HPO		 PMID:17876724 PMID:22461411 PMID:25741868 PMID:28492532 OMIM:230400 ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GDF9 growth differentiation factor 9 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 IAGP ClinVar Annotator: match by term: Premature menopause ClinVar
HPO		 PMID:25741868 PMID:32403198 OMIM:619518 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HFM1 helicase for meiosis 1 IAGP HPO OMIM:615724 NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G HROB homologous recombination factor with OB-fold IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar NCBI chr17:44,141,930...44,162,476
Ensembl chr17:44,141,906...44,162,476 		JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein IAGP HPO OMIM:619245 NCBI chr21:43,444,972...43,659,488
Ensembl chr21:43,529,186...43,659,488 		JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G IGSF10 immunoglobulin superfamily member 10 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 3:151,432,432...151,619,925
Ensembl chr 3:151,425,384...151,461,061 		JBrowse link
G INHA inhibin subunit alpha IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24033266 PMID:25741868 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647 		JBrowse link
G INVS inversin IAGP HPO ORPHA:3156 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP HPO ORPHA:3156 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G JAK2 Janus kinase 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO OMIM:620548 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:24728327 PMID:25741868 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:32,013,868...32,060,850
Ensembl chr 1:32,013,868...32,060,850 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar
HPO		 PMID:25741868 OMIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LEPR leptin receptor IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G 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 LOC126861258 MED14-independent group 3 enhancer GRCh37_chr11:72012242-72013441 IAGP ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chr11:72,301,198...72,302,397 JBrowse link
G LOC130061409 ATAC-STARR-seq lymphoblastoid silent region 8832 IAGP ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25741868 PMID:33025377 NCBI chr17:63,842,408...63,842,637 JBrowse link
G LRRC41 leucine rich repeat containing 41 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:46,277,462...46,303,616
Ensembl chr 1:46,261,196...46,303,616 		JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein IAGP HPO OMIM:618124 NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297 		JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor IAGP HPO OMIM:612885 NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977 		JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MIR4713HG MIR4713 host gene IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:20048079 PMID:25741868 NCBI chr15:51,037,488...51,293,912
Ensembl chr15:51,037,488...51,293,912 		JBrowse link
G MLH3 mutL homolog 3 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
G MOV10 Mov10 RNA helicase IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:112,674,439...112,700,739
Ensembl chr 1:112,673,141...112,700,756 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:28492532 PMID:30924587 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar
HPO		 PMID:29566152 PMID:31042289 ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 IAGP ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376 		JBrowse link
G MSH4 mutS homolog 4 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar
HPO		 PMID:25741868 PMID:33448284 ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G NBN nibrin IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar
HPO		 PMID:9590180 PMID:16415040 PMID:28492532 PMID:29706645 OMIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP ClinVar Annotator: match by term: Premature menopause
ClinVar Annotator: match by term: Premature ovarian insufficiency		 ClinVar PMID:23418306 PMID:25741868 PMID:28492532 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		JBrowse link
G NOBOX NOBOX oogenesis homeobox IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar
HPO		 PMID:25741868 OMIM:611548 NCBI chr 7:144,396,900...144,410,227
Ensembl chr 7:144,397,240...144,410,227 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOTCH2 notch receptor 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:3156 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO ORPHA:3156 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP4 nephrocystin 4 IAGP HPO ORPHA:3156 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO OMIM:612964 ORPHA:243 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:200,027,710...200,177,415
Ensembl chr 1:200,027,614...200,177,420 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr15:87,859,751...88,256,739
Ensembl chr15:87,859,751...88,256,791 		JBrowse link
G NUP107 nucleoporin 107 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar
HPO		 PMID:25741868 ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP155 nucleoporin 155 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 5:37,288,137...37,371,106
Ensembl chr 5:37,288,137...37,371,106 		JBrowse link
G PADI6 peptidyl arginine deiminase 6 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:31042289 NCBI chr 1:17,372,196...17,401,699
Ensembl chr 1:17,372,196...17,401,699 		JBrowse link
G PARD3 par-3 family cell polarity regulator IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr10:34,109,561...34,815,296
Ensembl chr10:34,109,560...34,815,325 		JBrowse link
G PDGFD platelet derived growth factor D IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr11:103,907,189...104,164,147
Ensembl chr11:103,907,189...104,164,379 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP ClinVar Annotator: match by term: Premature menopause ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PIRC66 piwi-interacting RNA cluster 66 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:20048079 PMID:25741868 NCBI chr15:51,037,584...51,322,397 JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar
HPO		 PMID:9140401 PMID:15844218 PMID:25355454 PMID:25497157 PMID:25741868 More... OMIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:31042289 NCBI chr 9:137,459,952...137,550,402
Ensembl chr 9:137,459,952...137,550,402 		JBrowse link
G POF1B POF1B actin binding protein IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar
HPO		 PMID:15459172 PMID:16773570 PMID:21940798 PMID:25676666 PMID:25741868 More... OMIM:300604 NCBI chr  X:85,277,396...85,379,665
Ensembl chr  X:85,277,396...85,379,717 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar
HPO		 PMID:14635118 PMID:25741868 PMID:27987238 OMIM:157640 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO OMIM:619425 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POLGARF POLG alternative reading frame IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:14635118 PMID:25741868 PMID:27987238 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,330,208...89,333,809 		JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PREPL prolyl endopeptidase like IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862 		JBrowse link
G PRIM1 DNA primase subunit 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRKD1 protein kinase D1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:28492532 PMID:31042289 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898 		JBrowse link
G PRLR prolactin receptor IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
G RAD50 RAD50 double strand break repair protein IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:16385572 PMID:25503501 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349 		JBrowse link
G RAD51C RAD51 paralog C IAGP ClinVar Annotator: match by term: Premature ovarian failure
ClinVar Annotator: match by term: Premature menopause		 ClinVar PMID:21537932 PMID:22476429 PMID:22538716 PMID:23117857 PMID:25085752 More... NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAD54L RAD54 like IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 1:46,247,688...46,278,473
Ensembl chr 1:46,246,461...46,278,480 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 IAGP HPO OMIM:617175 NCBI chr13:49,531,946...49,585,558
Ensembl chr13:49,531,946...49,585,558 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar Annotator: match by term: Premature ovarian failure		 ClinVar PMID:25741868 NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402 		JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP HPO ORPHA:217335 NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:3156 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SIRT6 sirtuin 6 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		JBrowse link
G SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 IAGP ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25741868 PMID:33025377 NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G 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 SSH1 slingshot protein phosphatase 1 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr12:108,778,191...108,857,583
Ensembl chr12:108,778,191...108,857,590 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar Annotator: match by term: Premature ovarian failure		 ClinVar
HPO		 PMID:25741868 PMID:35176428 OMIM:615723 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G TFAM transcription factor A, mitochondrial IAGP ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25741868 NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220 		JBrowse link
G TG thyroglobulin IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:8094490 PMID:16187910 PMID:28492532 PMID:31042289 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TH2LCRR T helper type 2 locus control region associated RNA IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30924587 NCBI chr 5:132,630,589...132,656,154
Ensembl chr 5:132,630,589...132,664,272 		JBrowse link
G THBS1 thrombospondin 1 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466 		JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO OMIM:613680 ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial IAGP ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25741868 NCBI chr 8:143,309,324...143,359,977
Ensembl chr 8:143,304,384...143,359,979 		JBrowse link
G TP63 tumor protein p63 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 PMID:30924587 PMID:35801529 PMID:36856110 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO ORPHA:3156 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		JBrowse link
G TTC16 tetratricopeptide repeat domain 16 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 9:127,716,079...127,731,590
Ensembl chr 9:127,716,079...127,731,590 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO ORPHA:391307 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G 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 UBR4 ubiquitin protein ligase E3 component n-recognin 4 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 1:19,074,510...19,210,266
Ensembl chr 1:19,074,510...19,210,266 		JBrowse link
G USP53 ubiquitin specific peptidase 53 IAGP ClinVar Annotator: match by term: Premature ovarian insufficiency ClinVar PMID:25741868 NCBI chr 4:119,212,601...119,295,518
Ensembl chr 4:119,212,587...119,295,518 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:3156 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WHAMM WASP homolog associated with actin, golgi membranes and microtubules IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr15:82,809,628...82,836,108
Ensembl chr15:82,809,628...82,836,108 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr  X:129,738,979...129,769,536
Ensembl chr  X:129,738,949...129,769,536 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO OMIM:619146 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZNF462 zinc finger protein 462 IAGP ClinVar Annotator: match by term: Premature ovarian failure ClinVar PMID:25741868 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634 		JBrowse link
G 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
Priapism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP HPO OMIM:603903 ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HP haptoglobin IAGP DNA:missense mutations, duplication:cds, exons, introns:p.A52D, p.E53K, 31-207dup RGD PMID:24567965 RGD:11041787 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
Primary amenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,040,998...89,202,355
Ensembl chr15:89,087,459...89,202,355 		JBrowse link
G ADAMTSL3 ADAMTS like 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:83,654,123...84,039,842
Ensembl chr15:83,654,088...84,039,842 		JBrowse link
G ADARB2 adenosine deaminase RNA specific B2 (inactive) IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:1,177,313...1,737,525
Ensembl chr10:1,177,313...1,737,525 		JBrowse link
G AHCTF1 AT-hook containing transcription factor 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,839,098...246,931,948
Ensembl chr 1:246,839,098...246,931,948 		JBrowse link
G AMELX amelogenin X-linked IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:11,293,413...11,309,588
Ensembl chr  X:11,293,413...11,300,761 		JBrowse link
G AMFR autocrine motility factor receptor IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545 		JBrowse link
G ANKRD24 ankyrin repeat domain 24 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,182,689...4,224,814
Ensembl chr19:4,182,689...4,224,814 		JBrowse link
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G APBA3 amyloid beta precursor protein binding family A member 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,750,772...3,761,692
Ensembl chr19:3,750,772...3,761,692 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G AR androgen receptor IAGP HPO OMIM:300068 ORPHA:90797 ORPHA:99429 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:11,137,544...11,665,920
Ensembl chr  X:11,117,651...11,665,920 		JBrowse link
G ARSA arylsulfatase A IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ASMTL acetylserotonin O-methyltransferase like IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:1,403,139...1,453,756
NCBI chr  Y:1,403,139...1,453,756
Ensembl chr  Y:1,403,139...1,453,762
Ensembl chr  X:1,403,139...1,453,762 		JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082 		JBrowse link
G ATP10B ATPase phospholipid transporting 10B (putative) IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:160,563,120...160,929,360
Ensembl chr 5:160,563,120...160,852,214 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:33,851,781...34,075,325
Ensembl chr15:33,858,782...34,075,155 		JBrowse link
G 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 BAALC-AS1 BAALC antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:103,243,538...103,298,818
Ensembl chr 8:103,153,394...103,298,772 		JBrowse link
G BCAP29 B cell receptor associated protein 29 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:107,580,007...107,623,317
Ensembl chr 7:107,580,246...107,629,170 		JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar
HPO		 PMID:21681106 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 BMP4 bone morphogenetic protein 4 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G 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 BNC1 basonuclin zinc finger protein 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar
HPO		 PMID:21681106 ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BTBD1 BTB domain containing 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:83,016,423...83,067,252
Ensembl chr15:83,016,423...83,067,252 		JBrowse link
G C15orf40 chromosome 15 open reading frame 40 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:82,988,963...83,011,639
Ensembl chr15:82,988,441...83,011,641 		JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,619,832...112,671,616
Ensembl chr 1:112,619,805...112,671,616 		JBrowse link
G CARMAL coronary artery disease region linked MFGE8 regulatory lncRNA IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,040,998...89,084,229 JBrowse link
G CAV1 caveolin 1 IAGP HPO OMIM:612526 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP 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 CCDC148 coiled-coil domain containing 148 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:158,171,073...158,456,753
Ensembl chr 2:158,171,073...158,456,753 		JBrowse link
G CCSER1 coiled-coil serine rich protein 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:90,127,394...91,605,295
Ensembl chr 4:90,127,394...91,605,295 		JBrowse link
G CD1E CD1e molecule IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:158,353,894...158,357,553
Ensembl chr 1:158,353,696...158,357,553 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:95496 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,402,640...4,450,830
Ensembl chr19:4,402,640...4,445,018 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO 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 CISD2 CDGSH iron sulfur domain 2 IAGP HPO OMIM:604928 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G 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 CNTLN centlein IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:17,135,040...17,528,634
Ensembl chr 9:17,134,982...17,503,923 		JBrowse link
G 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 CPEB1 cytoplasmic polyadenylation element binding protein 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:82,543,201...82,648,795
Ensembl chr15:82,543,201...82,648,861 		JBrowse link
G CREB3L3 cAMP responsive element binding protein 3 like 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,153,631...4,173,054
Ensembl chr19:4,153,631...4,173,054 		JBrowse link
G 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 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 CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO OMIM:202110 ORPHA:90793 ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G 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 CYP2E1 cytochrome P450 family 2 subfamily E member 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220 		JBrowse link
G DAPK3 death associated protein kinase 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,958,453...3,971,099
Ensembl chr19:3,958,453...3,971,123 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DDX1 DEAD-box helicase 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:15,591,868...15,631,101
Ensembl chr 2:15,591,178...15,634,346 		JBrowse link
G DENND6A DENN domain containing 6A IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:57,625,454...57,693,077
Ensembl chr 3:57,625,454...57,693,077 		JBrowse link
G DENND6A-DT DENND6A divergent transcript IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:57,693,205...57,696,651
Ensembl chr 3:57,693,205...57,696,596 		JBrowse link
G DHH desert hedgehog signaling molecule IAGP HPO OMIM:233420 OMIM:607080 ORPHA:168563 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO OMIM:273250 ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DIAPH2 diaphanous related formin 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:96,684,842...97,604,997
Ensembl chr  X:96,684,712...97,604,997 		JBrowse link
G DIAPH2-AS1 DIAPH2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:97,528,364...97,564,535
Ensembl chr  X:97,431,286...97,642,589 		JBrowse link
G DLC1 DLC1 Rho GTPase activating protein IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:13,083,361...13,604,620
Ensembl chr 8:13,083,361...13,604,610 		JBrowse link
G 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 DUS4L-BCAP29 DUS4L-BCAP29 readthrough IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 7:107,563,971...107,623,317
Ensembl chr 7:107,563,971...107,623,317 		JBrowse link
G DUSP19 dual specificity phosphatase 19 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:183,078,747...183,100,008
Ensembl chr 2:183,078,559...183,100,008 		JBrowse link
G DUSP22 dual specificity phosphatase 22 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:292,487...351,355
Ensembl chr 6:291,630...351,355 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO OMIM:146110 ORPHA:432 ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G EBI3 Epstein-Barr virus induced 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,229,523...4,237,528
Ensembl chr19:4,229,523...4,237,528 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		JBrowse link
G 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 EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP HPO OMIM:620314 NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP HPO OMIM:617565 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G ERI1 exoribonuclease 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO OMIM:615363 ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 IAGP HPO OMIM:618187 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G FAM120B family with sequence similarity 120 member B IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,290,703...170,407,067
Ensembl chr 6:170,290,703...170,407,067 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO OMIM:146110 OMIM:616030 ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO 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 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 FGFR1 fibroblast growth factor receptor 1 IAGP HPO 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 FHIT fragile histidine triad diadenosine triphosphatase IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor IAGP HPO OMIM:612310 NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643 		JBrowse link
G FLJ39095 uncharacterized LOC400812 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,104,511...247,109,561 JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G FSD1 fibronectin type III and SPRY domain containing 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,304,598...4,323,836
Ensembl chr19:4,304,598...4,323,843 		JBrowse link
G FSD2 fibronectin type III and SPRY domain containing 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:82,755,362...82,806,069
Ensembl chr15:82,755,362...82,806,070 		JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO OMIM:229070 ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO OMIM:233300 ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044 		JBrowse link
G GADL1 glutamate decarboxylase like 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:30,726,197...30,894,661
Ensembl chr 3:30,726,197...30,894,661 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO OMIM:146255 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GDF9 growth differentiation factor 9 IAGP HPO OMIM:618014 NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884 		JBrowse link
G 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 GNRHR gonadotropin releasing hormone receptor IAGP HPO 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 GPBP1L1 GC-rich promoter binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:45,627,304...45,688,110
Ensembl chr 1:45,627,304...45,688,113 		JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP HPO ORPHA:95496 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667 		JBrowse link
G GPR37L1 G protein-coupled receptor 37 like 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:202,122,917...202,133,592
Ensembl chr 1:202,122,886...202,133,592 		JBrowse link
G GTF2H2 general transcription factor IIH subunit 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:71,035,347...71,067,676
Ensembl chr 5:71,035,016...71,067,689 		JBrowse link
G GTF2H2C GTF2H2 family member C IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:69,560,191...69,595,221
Ensembl chr 5:69,560,191...69,595,221
Ensembl chr 5:69,560,191...69,595,221 		JBrowse link
G GXYLT1 glucoside xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:42,081,845...42,144,874
Ensembl chr12:42,081,845...42,144,874 		JBrowse link
G 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 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 HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 ORPHA:95496 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HOMER2 homer scaffold protein 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:82,834,661...82,986,157
Ensembl chr15:82,836,946...82,986,153 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO OMIM:614880 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 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO OMIM:233400 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G IPP intracisternal A particle-promoted polypeptide IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:45,694,324...45,750,653
Ensembl chr 1:45,694,324...45,750,653 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP HPO OMIM:191830 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G KBTBD12 kelch repeat and BTB domain containing 12 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:127,915,232...127,987,677
Ensembl chr 3:127,915,232...127,987,671 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO OMIM:614837 ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LEP leptin IAGP HPO OMIM:614962 ORPHA:66628 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor IAGP HPO ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:95496 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LINC00879 long intergenic non-protein coding RNA 879 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:94,938,263...94,991,328
Ensembl chr 3:94,937,980...95,168,351 		JBrowse link
G LINC01356 long intergenic non-protein coding RNA 1356 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,820,169...112,850,643
Ensembl chr 1:112,820,170...112,850,643 		JBrowse link
G LINC01357 long intergenic non-protein coding RNA 1357 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,850,344...112,877,871
Ensembl chr 1:112,849,821...112,877,878 		JBrowse link
G LINC01470 long intergenic non-protein coding RNA 1470 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:152,618,965...152,972,349
Ensembl chr 5:152,618,965...153,223,543 		JBrowse link
G LINC01524 long intergenic non-protein coding RNA 1524 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:52,620,838...52,650,426
Ensembl chr20:52,192,159...52,670,578 		JBrowse link
G LINC01743 long intergenic non-protein coding RNA 1743 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,516,039...246,524,287
Ensembl chr 1:246,516,039...246,524,287 		JBrowse link
G LINC02159 long intergenic non-protein coding RNA 2159 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:160,931,778...160,938,626
Ensembl chr 5:160,931,778...160,938,626 		JBrowse link
G LINC02197 long intergenic non-protein coding RNA 2197 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:71,321,031...71,446,756
Ensembl chr 5:71,337,182...71,446,772 		JBrowse link
G LINC02331 long intergenic non-protein coding RNA 2331 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr14:53,684,997...53,850,826
Ensembl chr14:53,685,139...53,850,882 		JBrowse link
G LINC02629 long intergenic non-protein coding RNA 2629 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:33,904,131...33,917,804
Ensembl chr10:33,909,238...33,917,804 		JBrowse link
G LINC02714 long intergenic non-protein coding RNA 2714 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:134,735,945...134,763,811
Ensembl chr11:134,735,596...134,810,530 		JBrowse link
G LINC02897 long intergenic non-protein coding RNA 2897 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,110,155...247,112,417
Ensembl chr 1:247,110,160...247,112,417 		JBrowse link
G LINC03077 long intergenic non-protein coding RNA 3077 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:98,573,873...98,867,764 JBrowse link
G LOC110120694 VISTA enhancer hs529 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:17,322,202...17,324,373 JBrowse link
G LOC110121051 VISTA enhancer hs1310 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,438,007...170,439,776 JBrowse link
G LOC110121251 VISTA enhancer hs2070 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,305,686...246,308,048 JBrowse link
G LOC110599585 CYP2E1 5' regulatory region IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,523,651...133,527,458 JBrowse link
G LOC111089946 NAIP promoter region IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:71,020,588...71,026,932 JBrowse link
G LOC111162621 DeltaNp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:189,786,613...189,789,801 JBrowse link
G LOC111429603 FOXA motif-containing MPRA enhancer 200 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:202,087,062...202,087,206 JBrowse link
G LOC111556114 HNF1 motif-containing MPRA enhancer 12 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:40,784,384...40,784,528 JBrowse link
G LOC112577567 Sharpr-MPRA regulatory region 11618 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,978,847...246,979,141 JBrowse link
G LOC112577568 Sharpr-MPRA regulatory region 11854 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,104,307...247,104,601 JBrowse link
G LOC113002590 H3K27ac hESC enhancer GRCh37_chr5:69696534-69697340 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:70,400,707...70,401,513 JBrowse link
G LOC113788294 Sharpr-MPRA regulatory region 10847 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:8,977,899...8,978,193 JBrowse link
G LOC115804239 CRISPRi-validated cis-regulatory element chr1.10696 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:202,075,264...202,076,422 JBrowse link
G LOC115804240 CRISPRi-validated cis-regulatory element chr1.10703 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:202,118,201...202,119,349 JBrowse link
G LOC120947224 Sharpr-MPRA regulatory region 15017 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,417,447...246,417,741 JBrowse link
G LOC121725178 Sharpr-MPRA regulatory region 11449 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 4:90,314,983...90,315,372 JBrowse link
G LOC122056859 Sharpr-MPRA regulatory region 13545 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:45,679,877...45,680,171 JBrowse link
G LOC122056860 Sharpr-MPRA regulatory region 10352 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:45,867,737...45,868,031 JBrowse link
G LOC122056861 Sharpr-MPRA regulatory region 5403 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:45,925,317...45,925,611 JBrowse link
G LOC122094900 Sharpr-MPRA regulatory region 5001 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,869,347...112,869,641 JBrowse link
G LOC122152356 Sharpr-MPRA regulatory region 4643 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,111,607...246,111,901 JBrowse link
G LOC122152358 Sharpr-MPRA regulatory region 5824 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,175,487...247,175,781 JBrowse link
G LOC123881371 Sharpr-MPRA regulatory region 11687 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,434,121...170,434,415 JBrowse link
G LOC124174311 H3K27ac hESC enhancer GRCh37_chr8:104311203-104311703 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:103,298,929...103,299,475 JBrowse link
G LOC125371498 Sharpr-MPRA regulatory region 124 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:23,569,807...23,570,101 JBrowse link
G LOC126805688 BRD4-independent group 4 enhancer GRCh37_chr1:33251929-33253128 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:29232904 NCBI chr 1:32,786,328...32,787,527 JBrowse link
G LOC126806083 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:246302792-246303991 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,139,490...246,140,689 JBrowse link
G LOC126806087 BRD4-independent group 4 enhancer GRCh37_chr1:247367171-247368370 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,203,869...247,205,068 JBrowse link
G LOC126806641 MED14-independent group 3 enhancer GRCh37_chr3:31253640-31254839 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:31,212,148...31,213,347 JBrowse link
G LOC126806691 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:57737311-57738510 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:57,751,584...57,752,783 JBrowse link
G LOC126806805 MED14-independent group 3 enhancer GRCh37_chr3:127536190-127537389 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:127,817,347...127,818,546 JBrowse link
G LOC126807574 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:160033047-160034246 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:160,606,040...160,607,239 JBrowse link
G LOC126807575 MED14-independent group 3 enhancer GRCh37_chr5:160365148-160366347 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:160,938,141...160,939,340 JBrowse link
G LOC126859546 BRD4-independent group 4 enhancer GRCh37_chr6:329543-330742 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:329,543...330,742 JBrowse link
G LOC126859914 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:170695897-170697096 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,386,809...170,388,008 JBrowse link
G LOC126859915 MED14-independent group 3 enhancer GRCh37_chr6:170816979-170818178 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,507,891...170,509,090 JBrowse link
G LOC126860645 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:78532862-78534061 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:75,917,946...75,919,145 JBrowse link
G LOC126860646 BRD4-independent group 4 enhancer GRCh37_chr9:78638373-78639572 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:76,023,457...76,024,656 JBrowse link
G LOC126860913 BRD4-independent group 4 enhancer GRCh37_chr10:34166034-34167233 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:33,877,106...33,878,305 JBrowse link
G LOC126861107 BRD4-independent group 4 enhancer GRCh37_chr10:135344892-135346091 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,531,388...133,532,587 JBrowse link
G LOC126861323 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:105167667-105168866 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:105,296,940...105,298,139 JBrowse link
G LOC126861408 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:134721213-134722412 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:134,851,319...134,852,518 JBrowse link
G LOC126862094 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34145183-34146382 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:33,852,982...33,854,181 JBrowse link
G LOC126862095 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34150522-34151721 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:33,858,321...33,859,520 JBrowse link
G LOC126862213 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:89644900-89646099 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,101,669...89,102,868 JBrowse link
G LOC128598893 CRISPRi-validated SMYD3 hub enhancer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,153,250...246,153,341 JBrowse link
G LOC128598894 CRISPRi-validated SMYD3 non-hub enhancer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,169,215...246,169,266 JBrowse link
G LOC128635606 CRISPR perturbation-validated SMYD3 cis-regulatory element TAD4.SE2.HS8 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,170,720...246,170,893 JBrowse link
G LOC128635607 CRISPR perturbation-validated SMYD3 cis-regulatory element TAD4.SE2.HS10 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,182,248...246,182,403 JBrowse link
G LOC129388509 MPRA-validated peak201 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:45,822,444...45,822,644 JBrowse link
G LOC129388586 MPRA-validated peak371 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,865,553...112,865,753 JBrowse link
G LOC129388707 MPRA-validated peak609 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:194,076,746...194,076,946 JBrowse link
G LOC129388708 MPRA-validated peak610 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:194,190,165...194,190,365 JBrowse link
G LOC129388709 MPRA-validated peak612 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:194,289,566...194,289,766 JBrowse link
G LOC129388710 MPRA-validated peak613 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:194,338,406...194,338,606 JBrowse link
G LOC129388711 MPRA-validated peak614 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:194,338,726...194,338,926 JBrowse link
G LOC129388803 MPRA-validated peak812 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,386,433...246,386,633 JBrowse link
G LOC129389044 MPRA-validated peak4584 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:31,075,514...31,075,714 JBrowse link
G LOC129389081 MPRA-validated peak4671 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:57,778,529...57,778,729 JBrowse link
G LOC129389424 MPRA-validated peak5616 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:375,020...375,220 JBrowse link
G LOC129390242 MPRA-validated peak1138 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,448,231...133,448,431 JBrowse link
G LOC129390439 MPRA-validated peak1683 silencer IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:42,169,194...42,169,394 JBrowse link
G LOC129930460 ATAC-STARR-seq lymphoblastoid active region 986 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129930461 ATAC-STARR-seq lymphoblastoid active region 987 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129930462 ATAC-STARR-seq lymphoblastoid silent region 834 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129930463 ATAC-STARR-seq lymphoblastoid silent region 835 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129931216 ATAC-STARR-seq lymphoblastoid active region 1519 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129931217 ATAC-STARR-seq lymphoblastoid silent region 1206 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932151 ATAC-STARR-seq lymphoblastoid active region 2273 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932925 ATAC-STARR-seq lymphoblastoid active region 2852 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932926 ATAC-STARR-seq lymphoblastoid silent region 2030 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932927 ATAC-STARR-seq lymphoblastoid active region 2853 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932928 ATAC-STARR-seq lymphoblastoid silent region 2031 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932929 ATAC-STARR-seq lymphoblastoid silent region 2034 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932941 ATAC-STARR-seq lymphoblastoid active region 2862 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932942 ATAC-STARR-seq lymphoblastoid silent region 2039 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932943 ATAC-STARR-seq lymphoblastoid active region 2863 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932944 ATAC-STARR-seq lymphoblastoid active region 2864 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932945 ATAC-STARR-seq lymphoblastoid active region 2865 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932946 ATAC-STARR-seq lymphoblastoid silent region 2040 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129932947 ATAC-STARR-seq lymphoblastoid silent region 2041 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129935223 ATAC-STARR-seq lymphoblastoid active region 16838 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129936400 ATAC-STARR-seq lymphoblastoid active region 19625 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129936401 ATAC-STARR-seq lymphoblastoid active region 19626 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129936402 ATAC-STARR-seq lymphoblastoid active region 19627 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129936932 ATAC-STARR-seq lymphoblastoid silent region 14483 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129937504 ATAC-STARR-seq lymphoblastoid silent region 14697 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129937505 ATAC-STARR-seq lymphoblastoid active region 20475 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129938147 ATAC-STARR-seq lymphoblastoid silent region 14997 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995193 ATAC-STARR-seq lymphoblastoid active region 23572 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995194 ATAC-STARR-seq lymphoblastoid active region 23573 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995195 ATAC-STARR-seq lymphoblastoid active region 23574 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995536 ATAC-STARR-seq lymphoblastoid active region 23815 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995537 ATAC-STARR-seq lymphoblastoid active region 23816 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995538 ATAC-STARR-seq lymphoblastoid active region 23818 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995539 ATAC-STARR-seq lymphoblastoid active region 23819 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995540 ATAC-STARR-seq lymphoblastoid active region 23820 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995541 ATAC-STARR-seq lymphoblastoid active region 23821 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995542 ATAC-STARR-seq lymphoblastoid active region 23822 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995543 ATAC-STARR-seq lymphoblastoid silent region 16803 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995544 ATAC-STARR-seq lymphoblastoid silent region 16804 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995545 ATAC-STARR-seq lymphoblastoid active region 23823 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995546 ATAC-STARR-seq lymphoblastoid active region 23824 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995547 ATAC-STARR-seq lymphoblastoid active region 23825 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995548 ATAC-STARR-seq lymphoblastoid active region 23826 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995549 ATAC-STARR-seq lymphoblastoid active region 23827 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995550 ATAC-STARR-seq lymphoblastoid active region 23828 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995551 ATAC-STARR-seq lymphoblastoid active region 23829 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995552 ATAC-STARR-seq lymphoblastoid active region 23830 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995553 ATAC-STARR-seq lymphoblastoid active region 23831 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995554 ATAC-STARR-seq lymphoblastoid active region 23832 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995555 ATAC-STARR-seq lymphoblastoid silent region 16805 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995556 ATAC-STARR-seq lymphoblastoid active region 23833 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995557 ATAC-STARR-seq lymphoblastoid active region 23834 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995558 ATAC-STARR-seq lymphoblastoid active region 23835 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995559 ATAC-STARR-seq lymphoblastoid active region 23836 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995560 ATAC-STARR-seq lymphoblastoid active region 23837 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995561 ATAC-STARR-seq lymphoblastoid active region 23838 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995562 ATAC-STARR-seq lymphoblastoid active region 23839 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995703 ATAC-STARR-seq lymphoblastoid active region 23934 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995704 ATAC-STARR-seq lymphoblastoid silent region 16881 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995705 ATAC-STARR-seq lymphoblastoid active region 23935 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995706 ATAC-STARR-seq lymphoblastoid silent region 16882 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995707 ATAC-STARR-seq lymphoblastoid silent region 16883 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995708 ATAC-STARR-seq lymphoblastoid silent region 16884 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129995709 ATAC-STARR-seq lymphoblastoid silent region 16885 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129997715 ATAC-STARR-seq lymphoblastoid active region 25467 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129997716 ATAC-STARR-seq lymphoblastoid active region 25468 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129998294 ATAC-STARR-seq lymphoblastoid active region 25889 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129999124 ATAC-STARR-seq lymphoblastoid active region 26494 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC129999834 ATAC-STARR-seq lymphoblastoid active region 26980 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC130000041 ATAC-STARR-seq lymphoblastoid silent region 19029 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC130000042 ATAC-STARR-seq lymphoblastoid silent region 19030 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106
G LOC130001903 ATAC-STARR-seq lymphoblastoid silent region 19956 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:75,877,865...75,877,914 JBrowse link
G LOC130005033 ATAC-STARR-seq lymphoblastoid active region 4253 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,453,670...133,453,719 JBrowse link
G LOC130005034 ATAC-STARR-seq lymphoblastoid active region 4254 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,490,448...133,490,497 JBrowse link
G LOC130005035 ATAC-STARR-seq lymphoblastoid silent region 2983 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,497,523...133,497,602 JBrowse link
G LOC130005036 ATAC-STARR-seq lymphoblastoid silent region 2984 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,520,203...133,520,402 JBrowse link
G LOC130007692 ATAC-STARR-seq lymphoblastoid silent region 4357 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:42,144,262...42,144,491 JBrowse link
G LOC130007693 ATAC-STARR-seq lymphoblastoid silent region 4358 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:42,144,572...42,145,071 JBrowse link
G LOC130007694 ATAC-STARR-seq lymphoblastoid active region 6209 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:42,145,232...42,145,301 JBrowse link
G LOC130057869 ATAC-STARR-seq lymphoblastoid active region 10039 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,068,233...89,068,282 JBrowse link
G LOC130057870 ATAC-STARR-seq lymphoblastoid active region 10040 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:89,068,333...89,068,382 JBrowse link
G LOC130059041 ATAC-STARR-seq lymphoblastoid silent region 7507 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr16:56,424,886...56,425,945 JBrowse link
G LOC130063962 ATAC-STARR-seq lymphoblastoid active region 14288 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:17,887,431...17,887,590 JBrowse link
G LOC130063963 ATAC-STARR-seq lymphoblastoid active region 14289 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:17,929,135...17,929,234 JBrowse link
G LOC130063964 ATAC-STARR-seq lymphoblastoid active region 14290 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:17,929,865...17,929,934 JBrowse link
G LOC130064105 ATAC-STARR-seq lymphoblastoid active region 14392 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:23,527,787...23,527,906 JBrowse link
G LOC130064106 ATAC-STARR-seq lymphoblastoid active region 14393 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:23,686,750...23,687,139 JBrowse link
G LOC130064107 ATAC-STARR-seq lymphoblastoid active region 14394 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:23,687,430...23,687,479 JBrowse link
G LOC130068044 ATAC-STARR-seq lymphoblastoid silent region 20702 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:23,318,221...23,318,390 JBrowse link
G LOC130068483 ATAC-STARR-seq lymphoblastoid active region 29800 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:97,563,557...97,563,846 JBrowse link
G LOC132089379 Neanderthal introgressed variant-containing enhancer experimental_91390 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,304,609...170,304,778 JBrowse link
G LRG1 leucine rich alpha-2-glycoprotein 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,536,402...4,540,036
Ensembl chr19:4,536,402...4,540,036 		JBrowse link
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260 		JBrowse link
G 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 MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MAST2 microtubule associated serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:45,803,612...46,036,122
Ensembl chr 1:45,786,987...46,036,122 		JBrowse link
G MATK megakaryocyte-associated tyrosine kinase IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,777,973...3,801,799
Ensembl chr19:3,777,970...3,802,129 		JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor IAGP HPO OMIM:612885 NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977 		JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP HPO OMIM:616185 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162 		JBrowse link
G MGLL monoglyceride lipase IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:127,689,066...127,823,185
Ensembl chr 3:127,689,062...128,052,190 		JBrowse link
G MIR11399 microRNA 11399 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,882,050...112,882,129 JBrowse link
G MIR3916 microRNA 3916 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,201,967...247,202,060
Ensembl chr 1:247,201,967...247,202,060 		JBrowse link
G MIR4500HG MIR4500 host gene IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr13:87,443,987...87,670,963
Ensembl chr13:87,427,214...87,674,235 		JBrowse link
G MIR4644 microRNA 4644 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,330,761...170,330,844
Ensembl chr 6:170,330,761...170,330,844 		JBrowse link
G MIR466 microRNA 466 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:31,161,704...31,161,787
Ensembl chr 3:31,161,704...31,161,787 		JBrowse link
G MIR944 microRNA 944 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:189,829,922...189,830,009
Ensembl chr 3:189,829,922...189,830,009 		JBrowse link
G 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 MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO OMIM:176270
G MOV10 Mov10 RNA helicase IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,674,439...112,700,739
Ensembl chr 1:112,673,141...112,700,756 		JBrowse link
G MPND MPN domain containing IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,343,562...4,360,078
Ensembl chr19:4,343,527...4,360,086 		JBrowse link
G MRPL54 mitochondrial ribosomal protein L54 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,762,682...3,767,565
Ensembl chr19:3,762,682...3,768,575 		JBrowse link
G 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 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 MSL3 MSL complex subunit 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO OMIM:617675 ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249 		JBrowse link
G NAIP NLR family apoptosis inhibitory protein IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:70,968,166...71,025,339
Ensembl chr 5:70,968,166...71,025,339 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G NCAM2 neural cell adhesion molecule 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr21:20,998,409...21,543,329
Ensembl chr21:20,998,409...21,543,329 		JBrowse link
G NCKAP5 NCK associated protein 5 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:132,671,788...133,674,836
Ensembl chr 2:132,671,788...133,568,463 		JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G NDNF neuron derived neurotrophic factor IAGP HPO OMIM:618841 ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021 		JBrowse link
G 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 NIN ninein IAGP HPO OMIM:614851 ORPHA:319675 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G 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 NKX2-6 NK2 homeobox 6 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G NKX3-1 NK3 homeobox 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:23,678,693...23,682,938
Ensembl chr 8:23,678,697...23,682,938 		JBrowse link
G NMRK2 nicotinamide riboside kinase 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,933,069...3,942,416
Ensembl chr19:3,933,069...3,942,416 		JBrowse link
G NOBOX NOBOX oogenesis homeobox IAGP HPO OMIM:611548 NCBI chr 7:144,396,900...144,410,227
Ensembl chr 7:144,397,240...144,410,227 		JBrowse link
G 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 NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO OMIM:612964 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 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 NUP107 nucleoporin 107 IAGP HPO OMIM:618078 ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP35 nucleoporin 35 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:183,117,514...183,161,680
Ensembl chr 2:183,117,513...183,161,680 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OCLN occludin IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G OR51B5 olfactory receptor family 51 subfamily B member 5 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:5,340,318...5,505,652
Ensembl chr11:5,303,444...5,505,652 		JBrowse link
G OR51I1 olfactory receptor family 51 subfamily I member 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:5,440,570...5,441,514
Ensembl chr11:5,440,570...5,441,514 		JBrowse link
G OR51I2 olfactory receptor family 51 subfamily I member 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr11:5,449,323...5,456,518
Ensembl chr11:5,449,323...5,456,518 		JBrowse link
G P2RY8 P2Y receptor family member 8 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:1,462,581...1,537,185
NCBI chr  Y:1,462,581...1,537,185
Ensembl chr  Y:1,462,581...1,537,185
Ensembl chr  X:1,462,581...1,537,185 		JBrowse link
G 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 PCSK5 proprotein convertase subtilisin/kexin type 5 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:75,889,809...76,362,975
Ensembl chr 9:75,890,644...76,362,975 		JBrowse link
G 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 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 PIAS4 protein inhibitor of activated STAT 4 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,007,736...4,039,386
Ensembl chr19:4,007,736...4,039,386 		JBrowse link
G PLIN4 perilipin 4 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,502,192...4,518,486
Ensembl chr19:4,502,192...4,518,486 		JBrowse link
G PLIN5 perilipin 5 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,522,531...4,535,224
Ensembl chr19:4,522,531...4,535,224 		JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:7,898,247...7,927,724
Ensembl chr  X:7,898,247...7,927,739 		JBrowse link
G 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 POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:157640 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO OMIM:201750 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO OMIM:604367 ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,709,998...112,715,332
Ensembl chr 1:112,709,994...112,715,332 		JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO 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 PROKR2 prokineticin receptor 2 IAGP HPO OMIM:244200 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 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 PSMB1 proteasome 20S subunit beta 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,535,120...170,553,307
Ensembl chr 6:170,535,120...170,553,307 		JBrowse link
G 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 PTCHD1 patched domain containing 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:23,334,396...23,404,374
Ensembl chr  X:23,334,849...23,404,374 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
G PUDP pseudouridine 5'-phosphatase IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:6,705,838...7,148,153
Ensembl chr  X:6,667,865...7,148,158 		JBrowse link
G 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 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 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 RAMAC RNA guanine-7 methyltransferase activating subunit IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:82,986,210...82,991,057
Ensembl chr15:82,986,210...82,991,057 		JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228 		JBrowse link
G RHOC ras homolog family member C IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,701,131...112,707,408
Ensembl chr 1:112,701,127...112,707,434 		JBrowse link
G 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 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 RPSA2 ribosomal protein SA 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:23,758,496...23,871,188
Ensembl chr19:23,762,944...23,871,162 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SCARNA15 small Cajal body-specific RNA 15 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:82,755,945...82,756,071
Ensembl chr15:82,755,945...82,756,071 		JBrowse link
G SCART1 scavenger receptor family member expressed on T cells 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:133,453,945...133,469,760
Ensembl chr10:133,453,928...133,523,558 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO OMIM:614897 ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO OMIM:146110 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SEMA6B semaphorin 6B IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,593...4,581,776 		JBrowse link
G SERF1A small EDRK-rich factor 1A IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:70,900,669...70,918,530
Ensembl chr 5:70,025,251...70,043,113
Ensembl chr 5:70,025,251...70,043,113 		JBrowse link
G SERF1B small EDRK-rich factor 1B IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:70,025,251...70,043,113
Ensembl chr 5:70,025,251...70,043,113 		JBrowse link
G SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,360,370...4,400,547
Ensembl chr19:4,360,370...4,400,547 		JBrowse link
G SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:83,447,341...83,633,820
Ensembl chr15:83,447,228...83,618,743 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212 		JBrowse link
G SHD Src homology 2 domain containing transforming protein D IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,279,069...4,290,722
Ensembl chr19:4,279,266...4,290,722 		JBrowse link
G 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 SIRT6 sirtuin 6 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566 		JBrowse link
G SLC16A1 solute carrier family 16 member 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,593 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G SLMAP sarcolemma associated protein IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003 		JBrowse link
G 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 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 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 SMN-AS1 survival motor neuron- antisense 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:70,931,244...70,932,840 JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G SMYD3 SET and MYND domain containing 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:245,749,347...246,507,279
Ensembl chr 1:245,749,342...246,507,312 		JBrowse link
G SMYD3-AS1 SMYD3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,108,626...246,113,869
Ensembl chr 1:246,108,626...246,113,866 		JBrowse link
G 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 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 SNORD13B-1 small nucleolar RNA, C/D box 13B-1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:69,539,161...69,539,264 JBrowse link
G SNORD13B-2 small nucleolar RNA, C/D box 13B-2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 5:71,088,632...71,088,735 JBrowse link
G SNORD173 small nucleolar RNA, C/D box 173 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 8:103,308,978...103,309,081 JBrowse link
G 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 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO OMIM:617690 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO 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 SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO OMIM:146110 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 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 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 STAG3 STAG3 cohesin complex component IAGP HPO OMIM:615723 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G STAP2 signal transducing adaptor family member 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,324,043...4,338,827
Ensembl chr19:4,324,043...4,342,786 		JBrowse link
G STS steroid sulfatase IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar
HPO		 PMID:21681106 OMIM:616947 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G 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 TACR3 tachykinin receptor 3 IAGP HPO 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 TAFA3 TAFA chemokine like family member 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:112,718,905...112,727,235
Ensembl chr 1:112,718,905...112,727,235 		JBrowse link
G TBP TATA-box binding protein IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TJP3 tight junction protein 3 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,708,384...3,750,813
Ensembl chr19:3,708,362...3,750,813 		JBrowse link
G TM6SF1 transmembrane 6 superfamily member 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:83,107,645...83,137,408
Ensembl chr15:83,107,572...83,144,854 		JBrowse link
G TMEM69 transmembrane protein 69 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:45,688,181...45,694,436
Ensembl chr 1:45,688,181...45,694,436 		JBrowse link
G TMIGD2 transmembrane and immunoglobulin domain containing 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,292,227...4,302,389
Ensembl chr19:4,292,227...4,302,431 		JBrowse link
G TP63 tumor protein p63 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar
HPO		 PMID:21681106 OMIM:620311 ORPHA:69085 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G 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
G TSHZ2 teashirt zinc finger homeobox 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:52,972,358...53,495,330
Ensembl chr20:52,972,358...53,495,330 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO OMIM:616138 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G UBXN6 UBX domain protein 6 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,445,006...4,457,879
Ensembl chr19:4,444,999...4,457,794 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G VCX variable charge X-linked IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr  X:7,842,262...7,844,143
Ensembl chr  X:7,842,262...7,844,143 		JBrowse link
G VLDLR very low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO OMIM:146110 OMIM:614858 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 WDR37 WD repeat domain 37 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991 		JBrowse link
G WHAMM WASP homolog associated with actin, golgi membranes and microtubules IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr15:82,809,628...82,836,108
Ensembl chr15:82,809,628...82,836,108 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO OMIM:158330 ORPHA:247768 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO OMIM:136680 ORPHA:251510 ORPHA:347 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G XPO1 exportin 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741 		JBrowse link
G YAF2 YY1 associated factor 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr12:42,157,104...42,238,248
Ensembl chr12:42,157,104...42,238,349 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar
HPO		 PMID:29232904 OMIM:619418 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G YJU2 YJU2 splicing factor homolog IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,247,080...4,269,088
Ensembl chr19:4,247,080...4,269,088 		JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZFR2 zinc finger RNA binding protein 2 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:3,804,024...3,869,038
Ensembl chr19:3,804,024...3,869,038 		JBrowse link
G ZNF124 zinc finger protein 124 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,121,975...247,172,379
Ensembl chr 1:247,121,975...247,172,020 		JBrowse link
G ZNF217 zinc finger protein 217 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:53,567,071...53,597,702
Ensembl chr20:53,567,071...53,609,907 		JBrowse link
G ZNF217-AS1 ZNF217 antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr20:53,552,770...53,575,308 JBrowse link
G ZNF669 zinc finger protein 669 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,099,962...247,104,356
Ensembl chr 1:247,099,962...247,104,372 		JBrowse link
G ZNF670 zinc finger protein 670 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:247,034,637...247,078,811
Ensembl chr 1:247,034,637...247,078,811 		JBrowse link
G ZNF670-ZNF695 ZNF670-ZNF695 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,945,546...247,078,811
Ensembl chr 1:246,945,547...247,078,811 		JBrowse link
G ZNF675 zinc finger protein 675 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:23,652,801...23,687,212
Ensembl chr19:23,525,631...23,687,220 		JBrowse link
G ZNF681 zinc finger protein 681 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr19:23,739,195...23,758,891
Ensembl chr19:23,739,195...23,758,891 		JBrowse link
G ZNF695 zinc finger protein 695 IAGP ClinVar Annotator: match by term: Primary amenorrhea ClinVar PMID:21681106 NCBI chr 1:246,945,546...247,008,057
Ensembl chr 1:246,945,547...247,008,093 		JBrowse link
G 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
Reduced antral follicle count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BNC1 basonuclin zinc finger protein 1 IAGP HPO OMIM:618723 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664 		JBrowse link
G NOBOX NOBOX oogenesis homeobox IAGP HPO OMIM:611548 NCBI chr 7:144,396,900...144,410,227
Ensembl chr 7:144,397,240...144,410,227 		JBrowse link
Reduced progressive sperm motility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP3 A-kinase anchoring protein 3 IAGP HPO OMIM:620353 NCBI chr12:4,615,518...4,649,051
Ensembl chr12:4,615,508...4,649,051 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP HPO OMIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G CFAP45 cilia and flagella associated protein 45 IAGP HPO OMIM:619608 NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165 		JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO OMIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO OMIM:619515 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP HPO OMIM:620356 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837 		JBrowse link
G DNALI1 dynein axonemal light intermediate chain 1 IAGP HPO OMIM:620354 NCBI chr 1:37,556,940...37,566,857
Ensembl chr 1:37,556,919...37,566,857 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO OMIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO OMIM:620222 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO OMIM:619696 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO OMIM:619585 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO OMIM:619689 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G SPACA1 sperm acrosome associated 1 IAGP HPO OMIM:620490 NCBI chr 6:88,046,901...88,066,838
Ensembl chr 6:88,047,841...88,066,838 		JBrowse link
G SSX1 SSX family member 1 IAGP HPO OMIM:301099 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G TEKT3 tektin 3 IAGP HPO OMIM:620277 NCBI chr17:15,303,812...15,343,671
Ensembl chr17:15,303,811...15,341,632 		JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO OMIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:619867 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
Reduced sperm motility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK7 adenylate kinase 7 IAGP HPO OMIM:617965 NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427 		JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP HPO ORPHA:730 NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:730 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein IAGP HPO OMIM:615434 NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635 		JBrowse link
G ARMC2 armadillo repeat containing 2 IAGP HPO OMIM:618433 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476 		JBrowse link
G BICC1 BicC family RNA binding protein 1 IAGP HPO ORPHA:730 NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435 		JBrowse link
G BRDT bromodomain testis associated IAGP HPO OMIM:617644 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP HPO OMIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO OMIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP HPO OMIM:612997 NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO OMIM:611102 OMIM:612997 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO OMIM:620084 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO OMIM:613807 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CEP112 centrosomal protein 112 IAGP HPO OMIM:619044 NCBI chr17:65,635,537...66,192,133
Ensembl chr17:65,635,537...66,192,133 		JBrowse link
G CFAP251 cilia and flagella associated protein 251 IAGP ClinVar Annotator: match by term: asthenozoospermia HPO
ClinVar		 PMID:30122541 OMIM:618152 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO OMIM:615500 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:602271 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CFAP43 cilia and flagella associated protein 43 IAGP HPO OMIM:617592 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP HPO OMIM:301059 NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317 		JBrowse link
G CFAP58 cilia and flagella associated protein 58 IAGP HPO OMIM:619144 NCBI chr10:104,338,520...104,455,102
Ensembl chr10:104,353,833...104,455,102 		JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO OMIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703 		JBrowse link
G CFAP69 cilia and flagella associated protein 69 IAGP HPO OMIM:617959 NCBI chr 7:90,245,174...90,323,723
Ensembl chr 7:90,245,174...90,311,063 		JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO OMIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102 		JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO OMIM:301106 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO OMIM:617576 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO OMIM:619515 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720 		JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP HPO OMIM:618643 NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP HPO OMIM:619094 NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742 		JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP HPO OMIM:620356 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837 		JBrowse link
G DNAH8 dynein axonemal heavy chain 8 IAGP HPO OMIM:619095 NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792 		JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP HPO ORPHA:730 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800 		JBrowse link
G DNALI1 dynein axonemal light intermediate chain 1 IAGP HPO OMIM:620354 NCBI chr 1:37,556,940...37,566,857
Ensembl chr 1:37,556,919...37,566,857 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO OMIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G FAM83F family with sequence similarity 83 member F IAGP ClinVar Annotator: match by term: Reduced sperm motility ClinVar PMID:25741868 NCBI chr22:39,994,954...40,043,534
Ensembl chr22:39,994,954...40,043,534 		JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP HPO OMIM:618153 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290 		JBrowse link
G GANAB glucosidase II alpha subunit IAGP HPO ORPHA:730 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO ORPHA:320391 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO OMIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO OMIM:608647 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:730 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G KCNU1 potassium calcium-activated channel subfamily U member 1 IAGP HPO OMIM:620196 NCBI chr 8:36,784,374...36,936,125
Ensembl chr 8:36,784,324...36,936,125 		JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO OMIM:615081 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO OMIM:619828 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP HPO ORPHA:730 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP HPO ORPHA:730 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		JBrowse link
G 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 RSPH4A radial spoke head component 4A IAGP HPO OMIM:612649 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO OMIM:612650 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G SEPTIN12 septin 12 IAGP HPO OMIM:614822 NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398 		JBrowse link
G SLC26A8 solute carrier family 26 member 8 IAGP HPO OMIM:606766 NCBI chr 6:35,943,516...36,024,641
Ensembl chr 6:35,943,516...36,024,868 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO OMIM:619380 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO OMIM:618751 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611 		JBrowse link
G SSX1 SSX family member 1 IAGP HPO OMIM:301099 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO OMIM:619436 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G STRC stereocilin IAGP HPO OMIM:611102 OMIM:612997 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G SUN5 Sad1 and UNC84 domain containing 5 IAGP HPO OMIM:617187 ORPHA:529970 NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433 		JBrowse link
G TTC21A tetratricopeptide repeat domain 21A IAGP HPO OMIM:618429 NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903 		JBrowse link
G TTC29 tetratricopeptide repeat domain 29 IAGP HPO OMIM:618745 NCBI chr 4:146,706,617...146,945,864
Ensembl chr 4:146,706,617...146,945,882 		JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO OMIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO OMIM:615444 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
Retrograde ejaculation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBH dopamine beta-hydroxylase IAGP HPO OMIM:223360 ORPHA:230 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
Round spermatid arrest term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO OMIM:615842 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
Secondary amenorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G 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 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 BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP HPO OMIM:619203 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G 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 DIAPH2 diaphanous related formin 2 IAGP HPO OMIM:300511 NCBI chr  X:96,684,842...97,604,997
Ensembl chr  X:96,684,712...97,604,997 		JBrowse link
G 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 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 EIF2B2 eukaryotic translation initiation factor 2B subunit beta IAGP HPO OMIM:620312 NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP HPO OMIM:620313 NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP HPO OMIM:620314 NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP HPO OMIM:617565 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:616946 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FANCM FA complementation group M IAGP HPO OMIM:618096 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G 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 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 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 FIGLA folliculogenesis specific bHLH transcription factor IAGP HPO OMIM:612310 NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643 		JBrowse link
G FOXL2 forkhead box L2 IAGP HPO OMIM:608996 ORPHA:572333 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G 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 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 HAMP hepcidin antimicrobial peptide IAGP HPO OMIM:613313 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G 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 HSF2BP heat shock transcription factor 2 binding protein IAGP HPO OMIM:619245 NCBI chr21:43,444,972...43,659,488
Ensembl chr21:43,529,186...43,659,488 		JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO OMIM:620548 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G 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 LMNA lamin A/C IAGP HPO ORPHA:2348 ORPHA:280365 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO OMIM:619938 ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G 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 NOBOX NOBOX oogenesis homeobox IAGP HPO OMIM:611548 NCBI chr 7:144,396,900...144,410,227
Ensembl chr 7:144,397,240...144,410,227 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO OMIM:612964 ORPHA:243 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G 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 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 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 POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:157640 OMIM:258450 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO OMIM:610489 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G 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 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 PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 IAGP HPO OMIM:617175 NCBI chr13:49,531,946...49,585,558
Ensembl chr13:49,531,946...49,585,558 		JBrowse link
G 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 SPIDR scaffold protein involved in DNA repair IAGP HPO ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306 		JBrowse link
G 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 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 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 TBL1X transducin beta like 1 X-linked IAGP HPO OMIM:301033 NCBI chr  X:9,463,295...9,719,740
Ensembl chr  X:9,463,320...9,741,037 		JBrowse link
G TKT transketolase IAGP HPO ORPHA:488618 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G 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
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
G 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 WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Spermatocyte maturation arrest term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KASH5 KASH domain containing 5 IAGP HPO OMIM:620547 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G RNF212 ring finger protein 212 IAGP HPO OMIM:619673 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO OMIM:619949 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO OMIM:619672 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP ClinVar Annotator: match by term: Spermatocyte maturation arrest ClinVar PMID:25741868 PMID:31866047 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO OMIM:617960 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
Spermatogenesis maturation arrest term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1AP meiosis 1 associated protein IAGP ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar
HPO		 PMID:32017041 OMIM:619108 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP HPO OMIM:619878 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH5 mutS homolog 5 IAGP HPO OMIM:619937 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO OMIM:619528 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:32111475 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP ClinVar Annotator: match by term: Spermatogenesis maturation arrest ClinVar PMID:25741868 PMID:31682730 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO OMIM:616950 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO OMIM:618110 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP HPO OMIM:619646 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO OMIM:619645 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TEX11 testis expressed 11 IAGP HPO OMIM:309120 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO OMIM:619145 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the genitourinary system 4407
        Abnormality of the genital system 3236
          Abnormality of reproductive system physiology 1374
            Abnormal female reproductive system physiology + 842
            Abnormal gametogenesis + 6
            Abnormal libido + 41
            Abnormal male reproductive system physiology + 395
            Abnormal ovarian physiology + 206
            Anorgasmia + 1
            Decreased fertility + 400
            Hypogonadism + 452
paths to the root