Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCC8 gene ABCC8 Expert Review Green;Literature Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diabetes mellitus;Hypoglycaemia;Pulmonary arterial hypertension Pulmonary arterial hypertension;HP:0002092 31406341;30354297 False 3 100;0;0 1.39 True ENSG00000006071 ENSG00000006071 HGNC:59 ACVRL1 gene ACVRL1 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 Pulmonary arterial hypertension;HP:0002092 False 3 100;0;0 1.39 True ENSG00000139567 ENSG00000139567 HGNC:175 ATP13A3 gene ATP13A3 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary pulmonary hypertension 5, MIM#265400 Pulmonary arterial hypertension;HP:0002092 31798832;30679663;29650961 False 3 100;0;0 1.39 True ENSG00000133657 ENSG00000133657 HGNC:24113 BMPR2 gene BMPR2 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600;Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600;Pulmonary venoocclusive disease 1 MIM#265450 Pulmonary arterial hypertension;HP:0002092 False 3 100;0;0 1.39 True ENSG00000204217 ENSG00000204217 HGNC:1078 CAV1 gene CAV1 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary hypertension, primary, 3 MIM#615343 Pulmonary arterial hypertension;HP:0002092 False 3 100;0;0 1.39 True ENSG00000105974 ENSG00000105974 HGNC:1527 EIF2AK4 gene EIF2AK4 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary venoocclusive disease 2 MIM#234810 Pulmonary arterial hypertension;HP:0002092 False 3 100;0;0 1.39 True ENSG00000128829 ENSG00000128829 HGNC:19687 ENG gene ENG Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300;Pulmonary arterial hypertension Pulmonary arterial hypertension;HP:0002092 30336550 False 3 100;0;0 1.39 True ENSG00000106991 ENSG00000106991 HGNC:3349 FLNA gene FLNA Expert Review;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "congenital emphysematous lung disease due to Filamin A loss-of-function variant, MONDO:0800135;Melnick-Needles syndrome, MIM# 309350" Pulmonary arterial hypertension;HP:0002092 33143682 False 3 100;0;0 1.39 True ENSG00000196924 ENSG00000196924 HGNC:3754 FOXF1 gene FOXF1 Expert Review;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 Pulmonary arterial hypertension;HP:0002092 23505205;27071622;27855150;19500772 False 3 100;0;0 1.39 True ENSG00000103241 ENSG00000103241 HGNC:3809 G6PC3 gene G6PC3 Expert Review;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541;MONDO:0012930;Dursun syndrome, MIM# 612541 Pulmonary arterial hypertension;HP:0002092 19118303;20799326;25492228;17318259;20616219 False 3 100;0;0 1.39 True ENSG00000141349 ENSG00000141349 HGNC:24861 GDF2 gene GDF2 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506;Pulmonary arterial hypertension Pulmonary arterial hypertension;HP:0002092 29650961;31661308 False 3 100;0;0 1.39 True ENSG00000128802 ENSG00000263761 HGNC:4217 KCNK3 gene KCNK3 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary hypertension, primary, 4 MIM#615344 Pulmonary arterial hypertension;HP:0002092 False 3 100;0;0 1.39 True ENSG00000171303 ENSG00000171303 HGNC:6278 KDR gene KDR Expert Review Green;Literature Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension Pulmonary arterial hypertension;HP:0002092 31980491;29650961 False 3 100;0;0 1.39 True ENSG00000128052 ENSG00000128052 HGNC:6307 NFU1 gene NFU1 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711;Pulmonary hypertension in early infancy Pulmonary arterial hypertension;HP:0002092 22077971;25918518;28470589;31516295;32669393;31461310 False 3 100;0;0 1.39 True ENSG00000169599 ENSG00000169599 HGNC:16287 SARS2 gene SARS2 Expert Review Green;Literature Pulmonary Arterial Hypertension Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Pulmonary arterial hypertension;HP:0002092 24034276;21255763;33751860 False 3 100;0;0 1.39 True ENSG00000104835 ENSG00000104835 HGNC:17697 SMAD9 gene SMAD9 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary hypertension, primary, 2 MIM#615342 Pulmonary arterial hypertension;HP:0002092 29844917;21920918;19211612 False 3 100;0;0 1.39 True ENSG00000120693 ENSG00000120693 HGNC:6774 SOX17 gene SOX17 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related Pulmonary arterial hypertension;HP:0002092 29650961;31406341 False 3 100;0;0 1.39 True ENSG00000164736 ENSG00000164736 HGNC:18122 TBX4 gene TBX4 Expert list;Expert Review Green Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891 Pulmonary arterial hypertension;HP:0002092 False 3 100;0;0 1.39 True ENSG00000121075 ENSG00000121075 HGNC:11603 AQP1 gene AQP1 Expert list;Expert Review Amber Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension MONDO:0015924, AQP1-related Pulmonary arterial hypertension;HP:0002092 22683574;29650961;37007933;35627312 False 2 50;50;0 1.39 True ENSG00000240583 ENSG00000240583 HGNC:633 BMP10 gene BMP10 Expert Review Amber;Literature Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension MONDO:0015924, BMP10-related Pulmonary arterial hypertension;HP:0002092 30578383;29843651;33187088;31661308 False 2 0;100;0 1.39 True ENSG00000163217 ENSG00000163217 HGNC:20869 CAPNS1 gene CAPNS1 Expert list;Expert Review Amber Pulmonary Arterial Hypertension Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related Pulmonary arterial hypertension;HP:0002092 38230350 False 2 0;100;0 1.39 True ENSG00000126247 ENSG00000126247 HGNC:1481 G6PD gene G6PD Expert Review Amber;Literature Pulmonary Arterial Hypertension Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pulmonary arterial hypertension Pulmonary arterial hypertension;HP:0002092 31913656;30161219 False 2 0;100;0 1.39 True ENSG00000160211 ENSG00000160211 HGNC:4057 GGCX gene GGCX ClinGen;Expert Review Amber Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted pulmonary arterial hypertension MONDO:0015924 Pulmonary arterial hypertension;HP:0002092 31727138 False 2 0;100;0 1.39 True ENSG00000115486 ENSG00000115486 HGNC:4247 TET2 gene TET2 Expert list;Expert Review Amber Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension MONDO:0015924, TET2-related Pulmonary arterial hypertension;HP:0002092 32192357 False 2 0;100;0 1.39 True ENSG00000168769 ENSG00000168769 HGNC:25941 BMPR1B gene BMPR1B Expert list;Expert Review Red Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension Pulmonary arterial hypertension;HP:0002092 22374147 False 1 0;0;100 1.39 True Other ENSG00000138696 ENSG00000138696 HGNC:1077 BRAP gene BRAP Expert Review Red;Literature Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension Pulmonary arterial hypertension;HP:0002092 30703135 False 1 0;100;0 1.39 True ENSG00000089234 ENSG00000089234 HGNC:1099 FBLN2 gene FBLN2 Expert list;Expert Review Red Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension MONDO:0015924, FBLN2-related Pulmonary arterial hypertension;HP:0002092 33971972 False 1 0;0;100 1.39 True ENSG00000163520 ENSG00000163520 HGNC:3601 KLF2 gene KLF2 Expert Review Red;Literature Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension MONDO:0015924, KLF2-related Pulmonary arterial hypertension;HP:0002092 28188237 False 1 0;0;100 1.39 True ENSG00000127528 ENSG00000127528 HGNC:6347 KLK1 gene KLK1 Expert Review Red;Other Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension MONDO:0015924 Pulmonary arterial hypertension;HP:0002092 31727138;17573418 False 1 0;50;50 1.39 True ENSG00000167748 ENSG00000167748 HGNC:6357 NOTCH3 gene NOTCH3 Expert Review Red;Literature Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related Pulmonary arterial hypertension;HP:0002092 19855400;31868216;24936512;33712516 False 1 0;33;67 1.39 True Other ENSG00000074181 ENSG00000074181 HGNC:7883 PDGFD gene PDGFD Expert list;Expert Review Red Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension MONDO:0015924, PDGFD-related Pulmonary arterial hypertension;HP:0002092 33187088;33971972 False 1 0;0;100 1.39 True ENSG00000170962 ENSG00000170962 HGNC:30620 SMAD1 gene SMAD1 Expert Review Red;Literature Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension MONDO:0015924, SMAD1-related Pulmonary arterial hypertension;HP:0002092 21898662;23478097 False 1 0;50;50 1.39 True ENSG00000170365 ENSG00000170365 HGNC:6767 SMAD4 gene SMAD4 Expert Review Red;Literature Pulmonary Arterial Hypertension Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary arterial hypertension MONDO:0015924, SMAD4-related Pulmonary arterial hypertension;HP:0002092 21898662 False 1 0;50;50 1.39 True ENSG00000141646 ENSG00000141646 HGNC:6770