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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormality of thyroid physiology
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Accession:HP:0002926 term browser browse the term
Definition:An abnormal functionality of the thyroid gland.
Synonyms:exact_synonym: Abnormal thyroid function
 xref: UMLS:C0857576

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show annotations for term's descendants           Sort by:
Abnormality of thyroid physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CTNS cystinosin, lysosomal cystine transporter IAGP HPO ORPHA:411629 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G H GATA4 GATA binding protein 4 IAGP HPO OMIM:615542 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G H SLC16A2 solute carrier family 16 member 2 IAGP HPO ORPHA:59 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G H SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G H USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO OMIM:300968 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
Abnormal circulating free T3 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
Abnormal circulating free T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALB albumin IAGP HPO OMIM:615999 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
Abnormal circulating thyroid hormone concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration ClinVar PMID:25741868 PMID:28492532 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H FOCAD focadhesin IAGP HPO OMIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G H USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
Abnormal radioactive iodine uptake test result term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DUOX2 dual oxidase 2 IAGP HPO ORPHA:226316 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
Activating thyroid-stimulating hormone receptor defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:424 ORPHA:99819 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Central hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G H CPE carboxypeptidase E IAGP HPO OMIM:619326 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G H CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G H DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G H DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G H DMXL2 Dmx like 2 IAGP HPO OMIM:616113 ORPHA:453533 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G H EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G H GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G H GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G H INSR insulin receptor IAGP HPO ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G H IRS4 insulin receptor substrate 4 IAGP HPO OMIM:301035 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563 		JBrowse link
G H KATNIP katanin interacting protein IAGP HPO OMIM:616784 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:398069 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G H NEXMIF neurite extension and migration factor IAGP HPO OMIM:300912 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G H NIN ninein IAGP HPO OMIM:614851 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		JBrowse link
G H NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G H OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G H PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G H PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G H ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Central hypothyroidism ClinVar
HPO		 PMID:25741868 OMIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G H RPL10 ribosomal protein L10 IAGP HPO OMIM:300998 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G H SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G H SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G H SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G H SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G H SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G H STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G H 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 H TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G H ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Compensated hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H FOXI1 forkhead box I1 IAGP HPO OMIM:274600 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G H KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO OMIM:274600 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G H NKX2-1 NK2 homeobox 1 IAGP HPO OMIM:610978 ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G H SLC26A4 solute carrier family 26 member 4 IAGP HPO OMIM:274600 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G H TANGO2 transport and golgi organization 2 homolog IAGP HPO ORPHA:480864 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G H TG thyroglobulin IAGP HPO OMIM:274700 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP HPO OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G H TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ADAMTSL1 ADAMTS like 1 IAGP HPO ORPHA:521445 NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950 		JBrowse link
G H ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G H B3GLCT beta 3-glucosyltransferase IAGP HPO ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G H DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
HPO		 PMID:12110737 PMID:16322276 PMID:16608528 PMID:17121535 PMID:18765513 More... OMIM:607200 ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H DUOXA2 dual oxidase maturation factor 2 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749 ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G H FOXE1 forkhead box E1 IAGP HPO OMIM:241850 ORPHA:1226 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G H GATA6 GATA binding protein 6 IAGP HPO ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G H GLIS3 GLIS family zinc finger 3 IAGP HPO OMIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G H GNB1 G protein subunit beta 1 IAGP HPO OMIM:616973 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G H IYD iodotyrosine deiodinase IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
HPO		 ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G H KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G H KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 OMIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G H LOC126806316 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113998497-113999696 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:26362610 NCBI chr 2:113,240,920...113,242,119 JBrowse link
G H MC2R melanocortin 2 receptor IAGP HPO ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G H MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G H NKX2-1 NK2 homeobox 1 IAGP HPO OMIM:610978 ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP HPO OMIM:225250 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G H NNT nicotinamide nucleotide transhydrogenase IAGP HPO OMIM:614736 ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G H PAX8 paired box 8 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
HPO		 PMID:16763387 PMID:25146893 PMID:26362610 OMIM:218700 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G H PAX8-AS1 PAX8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:16763387 PMID:25146893 PMID:26362610 NCBI chr 2:113,235,527...113,267,023
Ensembl chr 2:113,211,421...113,276,581 		JBrowse link
G H PDE4D phosphodiesterase 4D IAGP HPO OMIM:614613 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G H PLAA phospholipase A2 activating protein IAGP HPO OMIM:617527 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G H PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO OMIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G H SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G H SLC26A7 solute carrier family 26 member 7 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chr 8:91,209,496...91,398,155
Ensembl chr 8:91,209,494...91,398,155 		JBrowse link
G H SLC5A5 solute carrier family 5 member 5 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism HPO
ClinVar		 PMID:3998954 PMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749 ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G H STAR steroidogenic acute regulatory protein IAGP HPO ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G H TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G H TG thyroglobulin IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
HPO		 PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 More... ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H THRA thyroid hormone receptor alpha IAGP HPO OMIM:614450 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
G H TONSL tonsoku like, DNA repair protein IAGP HPO OMIM:271510 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G H TPO thyroid peroxidase IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G H TRAPPC9 trafficking protein particle complex subunit 9 IAGP HPO ORPHA:352530 NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579 		JBrowse link
G H TSHB thyroid stimulating hormone subunit beta IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
HPO		 PMID:11442002 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 More... ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G H TUBB1 tubulin beta 1 class VI IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 More... NCBI chr20:59,016,438...59,026,654
Ensembl chr20:59,019,429...59,026,654 		JBrowse link
G H TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G H UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP DNA:splice-site mutation:cds:IVS26+5G>A (human) RGD PMID:19006206 RGD:155882462 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G H YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO OMIM:619609 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
Decreased circulating free T3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H MADD MAP kinase activating death domain IAGP HPO OMIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP HPO OMIM:225250 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H SECISBP2 SECIS binding protein 2 IAGP HPO OMIM:609698 ORPHA:171706 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G H TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
Decreased circulating free T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CPE carboxypeptidase E IAGP HPO OMIM:619326 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G H IRS4 insulin receptor substrate 4 IAGP HPO OMIM:301035 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563 		JBrowse link
G H MADD MAP kinase activating death domain IAGP HPO OMIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP HPO OMIM:225250 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H 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
Decreased circulating T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO OMIM:608104 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G H ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G H DUOX2 dual oxidase 2 IAGP HPO ORPHA:226316 ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G H GLIS3 GLIS family zinc finger 3 IAGP HPO OMIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G H HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G H IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G H LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G H LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G H OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G H PAX8 paired box 8 IAGP HPO OMIM:218700 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G H SLC5A5 solute carrier family 5 member 5 IAGP HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H TPO thyroid peroxidase IAGP HPO OMIM:274500 ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G H TRHR thyrotropin releasing hormone receptor IAGP HPO OMIM:618573 ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G H TSHB thyroid stimulating hormone subunit beta IAGP HPO OMIM:275100 ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Elevated circulating reverse T3 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DIO1 iodothyronine deiodinase 1 IAGP HPO OMIM:619855 NCBI chr 1:53,894,187...53,911,086
Ensembl chr 1:53,891,239...53,911,086 		JBrowse link
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
Elevated circulating rT3/T3 ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DIO1 iodothyronine deiodinase 1 IAGP HPO OMIM:619855 NCBI chr 1:53,894,187...53,911,086
Ensembl chr 1:53,891,239...53,911,086 		JBrowse link
Euthyroid hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALB albumin IAGP HPO OMIM:615999 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G H 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 H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
G H TTR transthyretin IAGP HPO OMIM:145680 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
Graves disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G H CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G H GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G H SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
Hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AKT1 AKT serine/threonine kinase 1 IAGP HPO OMIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G H ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G H BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G H CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO OMIM:188580 ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G H 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 H COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G H CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP associated with Graves Disease;DNA:polymorphism:exon:49G>A(human) RGD PMID:10404810 RGD:11352245 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G H DICER1 dicer 1, ribonuclease III IAGP HPO ORPHA:276399 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G H FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:449291 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G H FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G H GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G H GNAS GNAS complex locus IAGP HPO OMIM:174800 ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G H GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G H HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G H HLA-B major histocompatibility complex, class I, B onset
susceptibility		 IAGP DNA:polymorphism:cds:HLA-B39
DNA:polymorphism:cds:HLA-B8
DNA:polymorphism, haplotype:cds:HLA-B8		 RGD PMID:8894996 PMID:2401095 PMID:8096501 RGD:7365110, RGD:7365118, RGD:7365112 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G H HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G H IL17A interleukin 17A susceptibility IAGP DNA:snp:intron:IVS1+18G>A (rs3819025) RGD PMID:22816799 RGD:9068423 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G H JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO OMIM:613239 ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G H KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO OMIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G H KEAP1 kelch like ECH associated protein 1 IAGP HPO ORPHA:276399 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G H 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 H PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G H POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G H POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G H POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G H PTEN phosphatase and tensin homolog IAGP HPO OMIM:158350 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G H RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G H RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G H SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G H SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G H SUGCT succinyl-CoA:glutarate-CoA transferase IAGP HPO OMIM:231690 NCBI chr 7:40,135,005...41,038,816
Ensembl chr 7:40,135,005...40,860,763 		JBrowse link
G H TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G H TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP HPO OMIM:145650 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO OMIM:603373 OMIM:609152 ORPHA:424 ORPHA:99819 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G H TWNK twinkle mtDNA helicase IAGP HPO ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G H UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
Hypothalamic hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G H BAP1 BRCA1 associated protein 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G H NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G H PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G H PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G H SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G H SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G H SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G H 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 H TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G H TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G H TRH thyrotropin releasing hormone IAGP ClinVar Annotator: match by term: Hypothalamic hypothyroidism ClinVar
HPO		 PMID:25741868 OMIM:275120 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO ORPHA:69665 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G H ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69665 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G H ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G H ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G H ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G H ADA adenosine deaminase IAGP HPO ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G H ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G H ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G H ADCY5 adenylate cyclase 5 IAGP HPO OMIM:619647 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G H ADNP activity dependent neuroprotector homeobox IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G H AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G H AIRE autoimmune regulator IAGP HPO OMIM:240300 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G H AKT1 AKT serine/threonine kinase 1 IAGP HPO OMIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G H ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO OMIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G H ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO OMIM:608104 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G H ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO OMIM:203800 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G H ALX4 ALX homeobox 4 IAGP HPO ORPHA:52022 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G H 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 H APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G H 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 H APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G H 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 H ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 IAGP HPO ORPHA:1556 NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396 		JBrowse link
G H ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G H ASH1L ASH1 like histone lysine methyltransferase IAGP HPO OMIM:617796 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G H ATP11A ATPase phospholipid transporting 11A IAGP HPO OMIM:619851 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G H ATP5F1A ATP synthase F1 subunit alpha IAGP HPO ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G H ATP5F1D ATP synthase F1 subunit delta IAGP HPO ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G H ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G H ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G H ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO ORPHA:69665 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G H ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 IAGP HPO ORPHA:254913 NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867 		JBrowse link
G H ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G H B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356 		JBrowse link
G H BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G H BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G H BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G H BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G H BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G H BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G H BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
G H BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G H BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G H BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G H BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G H BCOR BCL6 corepressor IAGP HPO OMIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G H BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G H BMP4 bone morphogenetic protein 4 IAGP HPO OMIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G H BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G H BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G H BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G H BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G H BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G H BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G H C1QBP complement C1q binding protein IAGP HPO OMIM:617713 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G H CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO OMIM:601005 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G H CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G H CBLB Cbl proto-oncogene B IAGP HPO OMIM:620430 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552 		JBrowse link
G H CCDC47 coiled-coil domain containing 47 IAGP HPO OMIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G H CD55 CD55 molecule (Cromer blood group) IAGP HPO OMIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G H CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO OMIM:610755 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G H 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 H CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:280200 ORPHA:95496 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G H CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G H CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G H CEP57 centrosomal protein 57 IAGP HPO OMIM:614114 ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G H 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 H CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO OMIM:214800 ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G H CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO ORPHA:261229 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G H CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G H CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G H COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G H CR1 complement C3b/C4b receptor 1 (Knops blood group) IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 1:207,496,157...207,641,765
Ensembl chr 1:207,496,147...207,641,765 		JBrowse link
G H CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:280200 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G H CTNS cystinosin, lysosomal cystine transporter IAGP HPO ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G H CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G H DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G H DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO ORPHA:3464 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G H DCLRE1C DNA cross-link repair 1C IAGP HPO ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G H DDB1 damage specific DNA binding protein 1 IAGP HPO OMIM:619426 NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596 		JBrowse link
G H DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G H DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:280200 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G H DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:280200 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G H DNAH1 dynein axonemal heavy chain 1 IAGP HPO OMIM:617577 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G H DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G H DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G H DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G H DUOX2 dual oxidase 2 IAGP HPO OMIM:607200 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H DUOXA2 dual oxidase maturation factor 2 IAGP HPO OMIM:274900 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G H DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G H EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G H EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G H ELN elastin IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G H ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G H EXOSC2 exosome component 2 IAGP HPO OMIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G H EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:52022 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G H FANCI FA complementation group I IAGP HPO OMIM:609053 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G H FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP HPO OMIM:619013 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G H FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G H FGF13 fibroblast growth factor 13 IAGP HPO OMIM:301058 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:280200 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:280200 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G H FLCN folliculin IAGP HPO OMIM:610883 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G H FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G H FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO OMIM:300623 ORPHA:449291 ORPHA:93256 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G H FOXE1 forkhead box E1 IAGP HPO ORPHA:95713 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G H FOXH1 forkhead box H1 IAGP HPO ORPHA:280200 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G H FOXI1 forkhead box I1 IAGP HPO ORPHA:705 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G H FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G H FOXP3 forkhead box P3 IAGP HPO OMIM:304790 ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G H FUCA1 alpha-L-fucosidase 1 IAGP HPO ORPHA:349 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G H FUT8 fucosyltransferase 8 IAGP HPO OMIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G H GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G H GAS1 growth arrest specific 1 IAGP HPO ORPHA:280200 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G H GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G H GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:280200 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G H GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:1556 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G H GNAS GNAS complex locus IAGP HPO OMIM:103580 OMIM:612462 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G H GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Underactive thyroid ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G H GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G H GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G H GPR161 G protein-coupled receptor 161 IAGP HPO ORPHA:95496 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667 		JBrowse link
G H GRIA1 glutamate ionotropic receptor AMPA type subunit 1 IAGP HPO OMIM:619927 NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869 		JBrowse link
G H GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP HPO OMIM:613970 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G H GRM7 glutamate metabotropic receptor 7 IAGP HPO OMIM:618922 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G H GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G H GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G H GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G H GYG1 glycogenin 1 IAGP HPO ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G H HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231222 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G H HDAC4 histone deacetylase 4 IAGP HPO OMIM:600430 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G H HESX1 HESX homeobox 1 IAGP HPO ORPHA:95496 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G H HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G H HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G H HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G H HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G H 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 H HNF1B HNF1 homeobox B IAGP HPO ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G H HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G H HPD 4-hydroxyphenylpyruvate dioxygenase IAGP HPO ORPHA:2118 NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596 		JBrowse link
G H 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 H HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G H HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G H IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G H IFNG interferon gamma IAGP HPO OMIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G H 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 H 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 H 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 H 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 H IGSF1 immunoglobulin superfamily member 1 IAGP HPO OMIM:300888 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G H IL2RA interleukin 2 receptor subunit alpha IAGP HPO OMIM:606367 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G H IL2RG interleukin 2 receptor subunit gamma IAGP HPO ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G H IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:619750 ORPHA:3206 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G H IL7R interleukin 7 receptor IAGP HPO ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G H IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G H INSR insulin receptor IAGP HPO ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G H IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G H IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G H 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 H ITCH itchy E3 ubiquitin protein ligase IAGP HPO OMIM:613385 ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G H IYD iodotyrosine deiodinase IAGP HPO OMIM:274800 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G H JAK1 Janus kinase 1 IAGP HPO OMIM:618999 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
G H JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G H KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G H KARS1 lysyl-tRNA synthetase 1 IAGP HPO OMIM:619147 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G H KAT6B lysine acetyltransferase 6B IAGP HPO OMIM:603736 OMIM:606170 ORPHA:3047 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G H KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G H KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO ORPHA:705 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G H KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G H KISS1R KISS1 receptor IAGP HPO OMIM:176400 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H KLF1 KLF transcription factor 1 IAGP HPO OMIM:613673 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G H KMT2B lysine methyltransferase 2B IAGP HPO ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G H KMT2D lysine methyltransferase 2D IAGP HPO OMIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G H LHX4 LIM homeobox 4 IAGP HPO OMIM:262700 ORPHA:95496 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G H LIFR LIF receptor subunit alpha IAGP HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G H LIG4 DNA ligase 4 IAGP HPO OMIM:606593 ORPHA:39041 ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G H LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G H LRBA LPS responsive beige-like anchor protein IAGP HPO OMIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G H LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G H LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G H LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808 		JBrowse link
G H LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G H MARS1 methionyl-tRNA synthetase 1 IAGP HPO OMIM:615486 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G H 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 H MDM4 MDM4 regulator of p53 IAGP HPO OMIM:618849 NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120 		JBrowse link
G H METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G H MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G H MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G H MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G H MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G H MOGS mannosyl-oligosaccharide glucosidase IAGP HPO ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G H MPI mannose phosphate isomerase IAGP HPO ORPHA:79319 NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219 		JBrowse link
G H MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:254913 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G H MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G H MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G H MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G H MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G H MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G H MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G H MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G H MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G H MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G H MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G H MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 ORPHA:663 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G H MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 IAGP HPO ORPHA:663 NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336 		JBrowse link
G H MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO ORPHA:663 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G H MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G H MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 ORPHA:663 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G H MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G H MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G H MTTP microsomal triglyceride transfer protein IAGP HPO ORPHA:14 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
G H NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G H NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:95713 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP HPO OMIM:225250 ORPHA:95712 ORPHA:95713 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G H NODAL nodal growth differentiation factor IAGP HPO ORPHA:280200 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G H NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G H NPHS1 NPHS1 adhesion molecule, nephrin IAGP HPO OMIM:256300 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G H NR1H4 nuclear receptor subfamily 1 group H member 4 IAGP HPO ORPHA:69665 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414 		JBrowse link
G H NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G H 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 H OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G H PAX8 paired box 8 IAGP HPO OMIM:218700 ORPHA:95712 ORPHA:95713 ORPHA:95720 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G H PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G H PHF21A PHD finger protein 21A IAGP HPO ORPHA:52022 NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454 		JBrowse link
G H PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO OMIM:616843 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G H PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO OMIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G H PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G H 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 H PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G H PLVAP plasmalemma vesicle associated protein IAGP HPO OMIM:618183 NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342 		JBrowse link
G H PMM2 phosphomannomutase 2 IAGP HPO OMIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G H PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:3363 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G H POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G H POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G H POLR3GL RNA polymerase III subunit GL IAGP HPO OMIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO OMIM:616817 ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G H PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G H PRIM1 DNA primase subunit 1 IAGP HPO OMIM:620005 NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374 		JBrowse link
G H PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G H PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:95496 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G H PROP1 PROP paired-like homeobox 1 IAGP HPO OMIM:262600 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G H PTCH1 patched 1 IAGP HPO ORPHA:280200 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G H PTEN phosphatase and tensin homolog IAGP HPO OMIM:158350 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G H PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO OMIM:616263 ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G H RAG1 recombination activating 1 IAGP HPO ORPHA:39041 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G H RAG2 recombination activating 2 IAGP HPO ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G H RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G H RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G H RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G H RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G H RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G H RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G H RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G H RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G H RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G H ROBO1 roundabout guidance receptor 1 IAGP HPO ORPHA:95496 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G H RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G H RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G H SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977 		JBrowse link
G H SALL1 spalt like transcription factor 1 IAGP HPO OMIM:107480 ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G H SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G H SASH3 SAM and SH3 domain containing 3 IAGP HPO OMIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G H 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 H SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G H SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:99736 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G H 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 H SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G H SECISBP2 SECIS binding protein 2 IAGP HPO OMIM:609698 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G H 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 H SGPL1 sphingosine-1-phosphate lyase 1 IAGP HPO OMIM:617575 NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		JBrowse link
G H SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:280200 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G H SIX3 SIX homeobox 3 IAGP HPO ORPHA:280200 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G H SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G H SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G H SKIC3 SKI3 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G H SLC16A2 solute carrier family 16 member 2 IAGP HPO OMIM:300523 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G H SLC25A36 solute carrier family 25 member 36 IAGP HPO OMIM:620211 NCBI chr 3:140,941,836...140,980,995
Ensembl chr 3:140,941,830...140,980,995 		JBrowse link
G H SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G H SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar
HPO		 PMID:25741868 ORPHA:705 ORPHA:95713 ORPHA:95720 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G H 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 H SLC5A5 solute carrier family 5 member 5 IAGP HPO OMIM:274400 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G H SLC6A17 solute carrier family 6 member 17 IAGP HPO ORPHA:457212 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202 		JBrowse link
G H SLF2 SMC5-SMC6 complex localization factor 2 IAGP HPO OMIM:620184 NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134 		JBrowse link
G H SOX3 SRY-box transcription factor 3 IAGP HPO OMIM:300123 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G H SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G H SPOP speckle type BTB/POZ protein IAGP HPO OMIM:618829 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
G H SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO ORPHA:324737 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G H SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G H STAT1 signal transducer and activator of transcription 1 IAGP ClinVar Annotator: match by term: Underactive thyroid ClinVar
HPO		 PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... OMIM:614162 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G H STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G H STEAP3 STEAP3 metalloreductase IAGP HPO ORPHA:300298 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652 		JBrowse link
G H STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G H STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G H SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:280200 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G H SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP HPO ORPHA:261229 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G H SVBP small vasohibin binding protein IAGP HPO OMIM:618569 NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397 		JBrowse link
G H TANGO2 transport and golgi organization 2 homolog IAGP HPO OMIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G H TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G H TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G H TBX1 T-box transcription factor 1 IAGP HPO OMIM:188400 ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G H TF transferrin IAGP HPO ORPHA:1195 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641 		JBrowse link
G H TG thyroglobulin IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:280200 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G H TIAM1 TIAM Rac1 associated GEF 1 IAGP HPO OMIM:619908 NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977 		JBrowse link
G H TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G H TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G H TPO thyroid peroxidase IAGP HPO OMIM:274500 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G H TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:225750 ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G H TRH thyrotropin releasing hormone IAGP HPO OMIM:275120 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
G H 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 H TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G H TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G H TSC1 TSC complex subunit 1 IAGP HPO OMIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G H TSC2 TSC complex subunit 2 IAGP HPO OMIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G H TSHB thyroid stimulating hormone subunit beta IAGP HPO OMIM:275100 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar
HPO		 PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 More... OMIM:275200 ORPHA:95713 ORPHA:95720 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G H 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 H TWNK twinkle mtDNA helicase IAGP HPO ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G H UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G H UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO OMIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G H UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP HPO OMIM:619189 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G H UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G H VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G H WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G H WDR11 WD repeat domain 11 IAGP HPO ORPHA:95496 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G H WDR4 WD repeat domain 4 IAGP HPO OMIM:618347 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G H WFS1 wolframin ER transmembrane glycoprotein IAGP HPO OMIM:222300 ORPHA:411590 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G H XRCC4 X-ray repair cross complementing 4 IAGP HPO OMIM:616541 ORPHA:99812 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G H YY1 YY1 transcription factor IAGP HPO ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G H ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G H ZFP57 ZFP57 zinc finger protein IAGP HPO ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
G H ZIC2 Zic family member 2 IAGP HPO ORPHA:280200 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Impaired sensitivity to thyroid hormone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H THRA thyroid hormone receptor alpha IAGP HPO OMIM:614450 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP ClinVar Annotator: match by term: Impaired sensitivity to thyroid hormone ClinVar
HPO		 PMID:1400869 PMID:1548332 PMID:8013151 PMID:20808683 OMIM:145650 OMIM:188570 OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
Impaired sensitivity to thyroid stimulating hormone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Increased circulating free T3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ABCB1 ATP binding cassette subfamily B member 1 IAGP associated with Hyperthyroidism RGD PMID:17891478 RGD:8657095 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G H HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism, haplotype:cds:HLA-DQB1*0602
DNA:polymorphism:cds:HLA-DQB1*0602
DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201		 RGD PMID:17194971 PMID:11272094 PMID:10468909 RGD:7421571, RGD:7483568, RGD:7421572 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP HPO OMIM:188570 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO OMIM:609152 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Increased circulating free T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALB albumin IAGP HPO OMIM:615999 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO OMIM:613239 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G H SECISBP2 SECIS binding protein 2 IAGP HPO OMIM:609698 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP HPO OMIM:188570 OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
Increased circulating T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ESR2 estrogen receptor 2 susceptibility IAGP DNA:snp:intron:IVS8G>A (rs4986938) RGD PMID:17941906 RGD:8693348 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G H HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism, haplotype:cds:HLA-DQB1*0602
DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201
DNA:polymorphism:cds:HLA-DQB1*0602 		RGD PMID:17194971 PMID:10468909 PMID:11272094 RGD:7421571, RGD:7421572, RGD:7483568 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO OMIM:613239 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G H SECISBP2 SECIS binding protein 2 IAGP HPO OMIM:609698 ORPHA:171706 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP HPO OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO OMIM:603373 OMIM:609152 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Increased radioactive iodine uptake term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DUOX2 dual oxidase 2 IAGP HPO ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G H IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G H SLC5A5 solute carrier family 5 member 5 IAGP HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G H TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H TPO thyroid peroxidase IAGP HPO ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Increased T3/T4 ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H TG thyroglobulin IAGP HPO OMIM:274700 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H THRA thyroid hormone receptor alpha IAGP HPO OMIM:614450 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
Pituitary hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G H AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G H ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO OMIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G H BAP1 BRCA1 associated protein 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G H BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G H 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 H CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G H FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G H GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G H GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G H HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G H HID1 HID1 domain containing IAGP HPO OMIM:619983 NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166 		JBrowse link
G H LEP leptin IAGP HPO ORPHA:66628 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G H LEPR leptin receptor IAGP HPO OMIM:614963 ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G H LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G H LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G H MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G H NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G H OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G H PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO ORPHA:71528 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G H PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G H PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G H POMC proopiomelanocortin IAGP HPO ORPHA:71526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G H PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G H RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G H SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G H SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G H SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G H SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G H 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 H TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G H TMEM67 transmembrane protein 67 IAGP HPO OMIM:602152 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G H TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G H TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G H TSHB thyroid stimulating hormone subunit beta IAGP ClinVar Annotator: match by term: Secondary hypothyroidism
ClinVar Annotator: match by term: Pituitary hypothyroidism		 ClinVar
HPO		 PMID:8636437 PMID:9589689 PMID:12364478 PMID:15297803 PMID:22606512 More... ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
Positive perchlorate discharge test term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DUOX2 dual oxidase 2 IAGP HPO ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G H IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G H SLC26A4 solute carrier family 26 member 4 IAGP DNA:mutations:multiple RGD PMID:15355436 RGD:7421514 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G H SLC5A5 solute carrier family 5 member 5 IAGP HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G H TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H TPO thyroid peroxidase IAGP HPO ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
Primary hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G H CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G H DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP HPO ORPHA:300536 NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544 		JBrowse link
G H STAT1 signal transducer and activator of transcription 1 IAGP ClinVar Annotator: match by term: Primary hypothyroidism ClinVar
HPO		 PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G H TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G H UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO OMIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
Reduced radioactive iodine uptake term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DUOX2 dual oxidase 2 IAGP HPO ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G H HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G H IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G H LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G H LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G H SLC5A5 solute carrier family 5 member 5 IAGP HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G H TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H TPO thyroid peroxidase IAGP HPO ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G H TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G H TSHB thyroid stimulating hormone subunit beta IAGP HPO ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Reduced TSH response to thyrotrophin-releasing hormone stimulation test term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CPE carboxypeptidase E IAGP HPO OMIM:619326 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G H IGSF1 immunoglobulin superfamily member 1 IAGP HPO OMIM:300888 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H TRHR thyrotropin releasing hormone receptor IAGP HPO OMIM:618573 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
Thyroid crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H 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
Thyroid defect in oxidation and organification of iodide term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DUOX2 dual oxidase 2 IAGP HPO ORPHA:226316 ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G H IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G H SLC5A5 solute carrier family 5 member 5 IAGP HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G H TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H TPO thyroid peroxidase IAGP HPO OMIM:274500 ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
Thyrotoxicosis with diffuse goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G H GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G H HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism:cds:HLA-B*46 RGD PMID:23329888 RGD:7365094 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:424 ORPHA:99819 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Thyrotoxicosis with toxic multinodular goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G H GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
Thyrotoxicosis with toxic single thyroid nodule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G H GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of the endocrine system 2651
        Abnormality of the thyroid gland 561
          Abnormality of thyroid physiology 430
            Abnormal TSH response to thyrotrophin-releasing hormone stimulation test + 4
            Abnormal circulating thyroid hormone concentration + 39
            Abnormal radioactive iodine uptake test result + 14
            Euthyroid hyperthyroxinemia 4
            Hyperthyroidism + 40
            Hypothyroidism + 404
            Impaired sensitivity to thyroid hormone 2
            Impaired sensitivity to thyroid stimulating hormone + 1
            Positive perchlorate discharge test 7
            Thyroid defect in oxidation and organification of iodide 6
paths to the root