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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:polygenic disease
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Accession:DOID:0080577 term browser browse the term
Definition:A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
acrocallosal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic ClinVar PMID:22246503 PMID:28492532 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668 		JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607 		JBrowse link
G Kif7 kinesin family member 7 ISO DNA:missense,frameshift mutations:cds:
DNA:mutations:cds,splice junction:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19666503 More... RGD:11068757, RGD:11553832 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar PMID:25741868 PMID:29321670 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523 		JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED syndrome, digenic OMIM
ClinVar		 PMID:25741868 PMID:33355142 NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
Coproporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Porphyria hepatica II ClinVar PMID:22958180 PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO protein:decreased activity:liver (mouse)
ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic		 ClinVar
RGD		 PMID:7987309 PMID:8159699 PMID:8286403 PMID:8990017 PMID:9843038 More... RGD:19165350 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: Weakness of facial musculature
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8723126 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23143600 More... NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
Facioscapulohumeral Muscular Dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrif1 ligand dependent nuclear receptor interacting factor 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic OMIM
ClinVar		 PMID:32467133 NCBI chr 2:194,231,397...194,322,489
Ensembl chr 2:194,230,951...194,322,483 		JBrowse link
Facioscapulohumeral Muscular Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic OMIM
ClinVar		 PMID:27153398 PMID:28492532 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
Harderoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpox coproporphyrinogen oxidase ISO protein:altered activity:blood, lymphocyte (human)
ClinVar Annotator: match by term: Harderoporphyria		 ClinVar
OMIM
RGD		 PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 More... RGD:25671431 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
hereditary coproporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria ClinVar PMID:22958180 PMID:25741868 PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO DNA:missense mutations, deletion, frameshift mutation:multiple
ClinVar Annotator: match by term: Hereditary coproporphyria
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation:exons:multiple
DNA:missense mutations:exons:multiple
DNA:mutations:multiple 		ClinVar
CTD
OMIM
RGD		 PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 More... RGD:21079461, RGD:25671429, RGD:25671430, RGD:25671428 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS		 DNA:deletions, snps:multiple (human)
OMIM:241530		 MouseDO
RGD		 PMID:16358215 PMID:19570882 RGD:7242925, RGD:7242924 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria OMIM
ClinVar		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
iminoglycinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Iminoglycinuria ClinVar PMID:19033659 NCBI chr10:39,319,062...39,357,374
Ensembl chr10:39,324,337...39,354,217 		JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Iminoglycinuria ClinVar
OMIM		 PMID:19033659 NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Iminoglycinuria OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 PMID:21572414 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
Joubert Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome 12 ClinVar PMID:21633164 PMID:22246503 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
Neonatal Pulmonary Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cps1 carbamoyl-phosphate synthase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to		 CTD
ClinVar
OMIM		 PMID:11407344 PMID:14718356 PMID:15465784 PMID:16708072 PMID:20154341 More... NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
primary pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,856,379...61,904,029
Ensembl chr 9:61,827,139...61,905,699 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Adam23 ADAM metallopeptidase domain 23 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,862,878...65,006,515
Ensembl chr 9:64,862,878...65,006,515 		JBrowse link
G Adora2a adenosine A2a receptor ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension ClinVar PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated		 CTD
ClinVar		 PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccnyl1 cyclin Y-like 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,071,721...66,121,742
Ensembl chr 9:66,071,543...66,107,999 		JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777 		JBrowse link
G Cmklr2 chemerin chemokine-like receptor 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,583,310...64,618,127
Ensembl chr 9:64,585,594...64,586,655 		JBrowse link
G Cpo carboxypeptidase O ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,319,996...65,338,250 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Cryga crystallin, gamma A ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,482,176...66,512,873
Ensembl chr 9:66,482,176...66,509,896 		JBrowse link
G Crygb crystallin, gamma B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,461,460...66,463,520
Ensembl chr 9:66,461,460...66,463,520 		JBrowse link
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123 		JBrowse link
G Dytn dystrotelin ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,037,378...65,098,549
Ensembl chr 9:65,037,493...65,098,549 		JBrowse link
G Eef1b2 eukaryotic translation elongation factor 1 beta 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,580,009...64,582,737
Ensembl chr 9:64,579,893...64,582,737 		JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,340,291...61,418,531
Ensembl chr 9:61,340,249...61,408,483 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO protein:increased expression:lung (human) RGD PMID:29722558 RGD:155791445 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension ClinVar PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 More... NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,117,370...66,119,127
Ensembl chr 9:66,113,112...66,121,457 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781 		JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Id1 inhibitor of DNA binding 1 ISO protein:decreased expression:lung, wall of arteriole (human) RGD PMID:20522807 RGD:9686087 NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Ino80d INO80 complex subunit D ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,447,075...64,514,013
Ensembl chr 9:64,457,165...64,515,242 		JBrowse link
G Kansl1l KAT8 regulatory NSL complex subunit 1-like ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,211,151...68,316,992
Ensembl chr 9:68,211,189...68,300,222 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
G Klf7 KLF transcription factor 7 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,437,535...65,484,720
NCBI chr 9:65,433,683...65,526,372
Ensembl chr 9:65,437,167...65,526,261 		JBrowse link
G Lancl1 LanC like glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,515,052...68,548,646
Ensembl chr 9:68,518,574...68,548,628 		JBrowse link
G Map2 microtubule-associated protein 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Mdh1b malate dehydrogenase 1B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,120,370...65,168,008
Ensembl chr 9:65,119,029...65,167,933 		JBrowse link
G Mettl21a methyltransferase 21A, HSPA lysine ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,934,253...65,999,964
Ensembl chr 9:65,978,051...65,987,550 		JBrowse link
G Mir23a microRNA 23a ISO RNA:increased expression:serum RGD PMID:25815108 RGD:155882560 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071 		JBrowse link
G Myl1 myosin, light chain 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,437,514...68,458,256
Ensembl chr 9:68,437,517...68,458,261 		JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958 		JBrowse link
G Pard3b par-3 family cell polarity regulator beta ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:63,038,435...64,067,178
Ensembl chr 9:63,038,436...64,068,053 		JBrowse link
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868 		JBrowse link
G Plekhm3 pleckstrin homology domain containing M3 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,166,233...66,325,332
Ensembl chr 9:66,166,321...66,325,294 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Pth2r parathyroid hormone 2 receptor ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,706,050...66,810,034
Ensembl chr 9:66,706,050...66,810,036 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		JBrowse link
G Smad9 SMAD family member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659 		JBrowse link
G Vip vasoactive intestinal peptide ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,475,498...61,502,584
Ensembl chr 9:61,475,517...61,502,469 		JBrowse link
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265 		JBrowse link
Primary Pulmonary Hypertension, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15712271 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia OMIM
ClinVar		 PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 More... NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23883380 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
G LOC120094942 small nucleolar RNA SNORD70 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,125,974...61,126,060
Ensembl chr 9:61,125,974...61,126,060 		JBrowse link
G LOC120094943 small nucleolar RNA SNORD70 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,126,745...61,126,828
Ensembl chr 9:61,126,745...61,126,828 		JBrowse link
G LOC120094946 small nucleolar RNA SNORD11 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,137,715...61,137,798
Ensembl chr 9:61,137,715...61,137,798 		JBrowse link
G LOC120094947 small nucleolar RNA SNORD11B ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,137,168...61,137,247
Ensembl chr 9:61,137,168...61,137,247 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810 		JBrowse link
G Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:21898662 PMID:26387786 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:26387786 More... NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		JBrowse link
Primary Pulmonary Hypertension, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 More... NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307 		JBrowse link
Primary Pulmonary Hypertension, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 OMIM
ClinVar		 PMID:22474227 PMID:25741868 PMID:26387786 PMID:28492532 PMID:29231014 More... NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
Primary Pulmonary Hypertension, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4 OMIM
ClinVar		 PMID:23883380 PMID:24033266 PMID:25741868 PMID:26387786 PMID:28492532 More... NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
Primary Pulmonary Hypertension, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a3 ATPase 13A3 ISO ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 5, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30679663 PMID:34493544 NCBI chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235 		JBrowse link
retinitis pigmentosa 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar		 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:7904791 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar		 PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:28492532 NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar
RGD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8662279 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          polygenic disease 109
            acrocallosal syndrome + 5
            digenic disease + 104
paths to the root