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: Primary Pulmonary Hypertension, 1
Accession: DOID:9009117
browse the term
Synonyms: exact_synonym: PAH; PHT; PPH1; PULMONARY ARTERIAL HYPERTENSION
broad_synonym: BMPR2-RELATED CONDITION; BMPR2-RELATED DISORDER
related_synonym: PPH1 with HHT; PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED; PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED; Primary Pulmonary Hypertension 1, with Hereditary Hemorrhagic Telangiectasia
primary_id: OMIM:178600
xref: NCI:C174219
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ABCA3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978
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ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25117148 PMID:25741868
NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
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ABI2
abl interactor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:106,776,627...106,903,889
Ensembl chr15:106,776,631...106,900,333
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ACVRL1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9245985 PMID:10767348 PMID:11484689 PMID:12114496 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15517393 PMID:15687131 PMID:15712271 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16752392 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19555857 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:22632830 PMID:22781769 PMID:23124896 PMID:23298310 PMID:23535011 PMID:23722869 PMID:23919827 PMID:24033266 PMID:24753439 PMID:25557927 PMID:25741868 PMID:25970827 PMID:26387786 PMID:27316748 PMID:27587546 PMID:28492532 PMID:28918311 PMID:29449337 PMID:29515340 PMID:29650961 PMID:29743074 PMID:30260738 PMID:30303062 PMID:30578383 PMID:31019026 PMID:31400083 PMID:31727138 PMID:32300199 PMID:32503579 PMID:32581362 PMID:32899377 PMID:34872578 More...
NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093
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AOX1
aldehyde oxidase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,157,527...104,236,006
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ATP13A3
ATPase 13A3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr13:131,391,793...131,476,123
Ensembl chr13:131,391,798...131,493,623
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BMPR1A
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31727138
NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,790
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BMPR2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | 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 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12446270 PMID:12821254 PMID:14516151 PMID:14583445 PMID:14985116 PMID:15055271 PMID:15059534 PMID:15146475 PMID:15170098 PMID:15358693 PMID:15591269 PMID:15687131 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18221724 PMID:18321866 PMID:18356561 PMID:18364108 PMID:18386374 PMID:18503968 PMID:18792970 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20496075 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:22632830 PMID:22995991 PMID:23139147 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24591673 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25326637 PMID:25429696 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:27002414 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28391780 PMID:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 More...
NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
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BZW1
basic leucine zipper and W2 domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,525,900...104,543,795
Ensembl chr15:104,525,451...104,543,783
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C2CD6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563
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CARF
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:106,410,245...106,482,502
Ensembl chr15:106,410,491...106,466,799
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CASP10
caspase 10
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
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CASP8
caspase 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
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CD28
CD28 molecule
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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CDK15
cyclin dependent kinase 15
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:105,401,170...105,506,112
Ensembl chr15:105,401,165...105,506,114
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CFLAR
CASP8 and FADD like apoptosis regulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,780,744...104,835,631
Ensembl chr15:104,781,616...104,835,630
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CLK1
CDC like kinase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,553,512...104,562,348
Ensembl chr15:104,553,430...104,562,171
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CYP20A1
cytochrome P450 family 20 subfamily A member 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:106,696,722...106,763,126
Ensembl chr15:106,696,717...106,765,131
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226
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ENG
endoglin
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16690726 PMID:16705692 PMID:16754821 PMID:17384219 PMID:17786384 PMID:18498373 PMID:19270816 PMID:21158752 PMID:22991266 PMID:23298310 PMID:23722869 PMID:24033266 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26387786 PMID:28492532 PMID:29650961 PMID:30029678 PMID:30665703 PMID:31019283 PMID:31727138 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32933640 PMID:33919892 PMID:34872578 More...
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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FAM117B
family with sequence similarity 117 member B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:106,183,217...106,284,318
Ensembl chr15:106,183,205...106,284,313
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FLACC1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,950,504...104,986,350
Ensembl chr15:104,942,349...104,985,722
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FZD7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:105,644,164...105,648,860
Ensembl chr15:105,644,188...105,648,850
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GDF2
growth differentiation factor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138
NCBI chr14:88,506,083...88,513,416
Ensembl chr14:88,507,399...88,513,375
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GJB2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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HYCC2
hyccin PI4KA lipid kinase complex subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,665,720...104,747,688
Ensembl chr15:104,665,729...104,747,567
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HYDIN
HYDIN axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr 6:13,895,276...14,307,790
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ICA1L
islet cell autoantigen 1 like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:106,293,936...106,377,573
Ensembl chr15:106,295,934...106,377,579
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ICOS
inducible T cell costimulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119
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KCNA5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:25741868 PMID:28492532 More...
NCBI chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207
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KCNK3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23883380 PMID:32581362
NCBI chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212
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KCTD18
potassium channel tetramerization domain containing 18
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,070,208...104,099,300
Ensembl chr15:104,071,268...104,099,188
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MPP4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:105,277,295...105,319,936
Ensembl chr15:105,277,073...105,323,578
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NBEAL1
neurobeachin like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:106,516,002...106,686,685
Ensembl chr15:106,517,304...106,680,337
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NDUFB3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139
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NIF3L1
NGG1 interacting factor 3 like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,583,736...104,606,507
Ensembl chr15:104,583,809...104,606,966
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NOP58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436 PMID:26387786 PMID:32581362
NCBI chr15:105,893,589...105,930,458
Ensembl chr15:105,893,637...105,930,459
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NOTCH1
notch receptor 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20951801 PMID:20981092 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23734977 PMID:24728327 PMID:24943832 PMID:25741868 PMID:26837699 PMID:28387797 PMID:28492532 PMID:29641532 PMID:30059548 PMID:30582441 PMID:35288444 More...
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NOTCH3
notch receptor 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 PMID:26467025 PMID:26894465 PMID:28492532 More...
NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
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ORC2
origin recognition complex subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,612,727...104,656,558
Ensembl chr15:104,613,610...104,656,492
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PHF6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr X:110,249,010...110,311,503
Ensembl chr X:110,249,010...110,303,017
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PMS2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 PMID:20205264 PMID:21239990 PMID:21376568 PMID:22658618 PMID:23012243 PMID:24033266 PMID:24362816 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26895986 PMID:27273229 PMID:28492532 PMID:29489754 PMID:31433215 PMID:33753322 More...
NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628
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PPIL3
peptidylprolyl isomerase like 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,569,138...104,583,752
Ensembl chr15:104,569,147...104,583,683
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RAPH1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:106,900,826...106,997,795
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SGO2
shugoshin 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,099,378...104,150,723
Ensembl chr15:104,099,384...104,150,720
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SMAD1
SMAD family member 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662 PMID:26387786
NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994
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SMAD4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662 PMID:24728327 PMID:25502805 PMID:25559809 PMID:25741868 PMID:26387786 PMID:26467025 PMID:28492532 PMID:29684080 PMID:31515488 More...
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
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SMAD9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
NCBI chr11:12,705,652...12,727,981
Ensembl chr11:12,705,368...12,763,008
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SOX17
SRY-box transcription factor 17
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148
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SPATS2L
spermatogenesis associated serine rich 2 like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:103,879,416...104,060,525
Ensembl chr15:103,879,356...104,060,524
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STRADB
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:105,055,218...105,083,429
Ensembl chr15:105,055,274...105,126,927
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SUMO1
small ubiquitin like modifier 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,818,858...105,850,233
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TBX4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30004997 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32348326 PMID:32581362 PMID:32860008 PMID:33066286 PMID:33971972 PMID:34557690 More...
NCBI chr12:36,803,355...36,830,321
Ensembl chr12:36,802,354...36,834,327
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TMEM237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,970
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TOPBP1
DNA topoisomerase II binding protein 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr13:74,768,251...74,846,377
Ensembl chr13:74,768,257...74,846,340
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TRAK2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:104,991,261...105,056,054
Ensembl chr15:104,991,726...105,055,025
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WDR12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr15:106,380,748...106,410,723
Ensembl chr15:106,380,755...106,410,416
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all