Pulmonary arterial hypertension

Disease Term Disease ID Gene Symbol Classification References Source
HERITABLE PULMONARY ARTERIAL HYPERTENSION
275777MONDO:0017148
ACVRL1 Unknown
22632830 23298310 24936649 24951767 24956016
Orphanet
ATP13A3 Unknown
34493544
Orphanet
BMPR2 Unknown
19555857 20301658 24951767
GWAS catalog Orphanet
CAV1 Unknown
22474227
GWAS catalog Orphanet
EIF2AK4 Unknown
25512148
CTD Orphanet
ENG Unknown
15115879 15687131 23298310 24951767
Orphanet
GDF2 Unknown
37249087
Orphanet
KCNK3 Unknown
23883380 24951767
CTD Orphanet
SMAD9 Unknown
21920918
GenCC Orphanet
SOX17 Unknown
30029678
Orphanet
TBX4 Unknown
23502781 23592887
Disgenet Orphanet
PULMONARY ARTERIAL HYPERTENSION
C2973725MONDO:0015924MESH:D000081029EFO_0001361
ACVRL1 Causal — Disgenet
ATP13A3 Causal
29650961 30578397 31727138 34493544
ClinGen Disgenet GWAS catalog
BMPR2 Causal
10903931 10973254 11502704 11940546 16027259 21737550 28415675 7791754
CTD ClinGen Disgenet GWAS catalog
EIF2AK4 Causal — Disgenet
ENG Causal — Disgenet
GDF2 Causal
17068149 26076038 29650961 30578383 30578397
ClinGen Disgenet GWAS catalog
KCNK3 Causal
16574908 23883380 26912814 27649371 27884767 28388887 29631995 29650961 30578397 31347976 31727138 31813511 32502478 33007923
CTD ClinGen Disgenet
SOX17 Causal
24153254 29650961 30029678 30044643 30578397 31727138 33952808
ClinGen Disgenet GWAS catalog
TBX4 Causal
22876201 23592887 27587546 29631995 33385213
ClinGen Disgenet
ABCC8 Unknown
30354297 31727138 32934261 33187088 35811711
CTD ClinGen Disgenet
AHR Unknown
33836606
CTD Disgenet
AQP1 Unknown — ClinGen Disgenet GenCC
BMP10 Unknown
17068149 29789425 29843651 30578383 31661308 33187088
ClinGen Disgenet GWAS catalog
BMPR1A Unknown — ClinGen Disgenet
BMPR1B Unknown — ClinGen Disgenet
C12ORF42 Unknown
37089865
GWAS catalog
CAV1 Unknown
12177436 16537870 17893196 22474227 28468941 28904206 29631995 30578383 31727138 33007923
ClinGen Disgenet GWAS catalog
CBLN2 Unknown
23502781
GWAS catalog
DIPK1A Unknown — Disgenet
DNAJC10 Unknown
29088834
GWAS catalog
FBLN2 Unknown
23715323 33971972
ClinGen Disgenet GWAS catalog
FBN1 Unknown
37089865
GWAS catalog
GGCX Unknown
23715323 31727138
CTD ClinGen Disgenet
HLA-DPA1 Unknown
30527956
GWAS catalog
HLA-DPB1 Unknown
30527956
GWAS catalog
KCNA5 Unknown — Disgenet
KDR Unknown
21868504 29650961 31980491 32166015 32880713 8245783
ClinGen Disgenet GWAS catalog
KLF2 Unknown
10458913 15136591 28188237 32132543 7565748
ClinGen Disgenet
KLK1 Unknown
17573418 31727138
ClinGen Disgenet
NOTCH1 Unknown — Disgenet
NOTCH3 Unknown — ClinGen Disgenet
PDE1A Unknown
29088834
GWAS catalog
PDGFD Unknown
23715323 33187088 33971972
CTD ClinGen Disgenet
PHF6 Unknown — Disgenet
PIM1 Unknown
37089865
GWAS catalog
PKIA Unknown
37089865
GWAS catalog
RPL5 Unknown — Disgenet
SLC24A5 Unknown
37089865
GWAS catalog
SMAD1 Unknown — ClinGen Disgenet