Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation CLINVAR

Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 CausalMutation CLINVAR

Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 CausalMutation CLINVAR

Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation CLINVAR

Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.120 CausalMutation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 GeneticVariation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 GeneticVariation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 CausalMutation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 GeneticVariation CLINVAR

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 GeneticVariation CLINVAR

Entrez Id: 6125
Gene Symbol: RPL5
RPL5
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 CausalMutation CLINVAR

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 GeneticVariation CLINVAR

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 CausalMutation CLINVAR

Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 CausalMutation CLINVAR