| Familial primary pulmonary hypertension |
C0340543 |
ACVRL1
|
Causal
Pathogenic evidence from ClinVar
|
22632830, 23298310, 24936649, 24951767, 24956016, 26699722 |
ClinVar |
|
BMPR2
|
Causal
Pathogenic evidence from ClinVar
|
19555857, 24951767, 25460361, 26699722 |
ClinVar |
|
CAV1
|
Causal
Pathogenic evidence from ClinVar
|
22474227, 29650961 |
ClinVar |
|
ENG
|
Causal
Pathogenic evidence from ClinVar
|
15115879, 15687131, 23298310, 24951767, 26699722 |
ClinVar |
|
KCNK3
|
Causal
Pathogenic evidence from ClinVar
|
23883380, 24951767, 28388887 |
ClinVar |
|
SMAD9
|
Causal
Pathogenic evidence from ClinVar
|
21920918, 26387786 |
ClinVar |
|
TBX4
|
Causal
Pathogenic evidence from ClinVar
|
23502781, 23592887, 27694411 |
ClinVar |
|
AQP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29650961 |
- |
|
ATP13A3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30545973 |
- |
|
EIF2AK4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25512148, 29844075 |
- |
|
GDF2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
26801773 |
- |
|
HDAC1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22711276 |
- |
|
HDAC4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22711276 |
- |
|
HDAC5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22711276 |
- |
|
SMAD1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29650961 |
- |
|
SMAD4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29650961 |
- |
|
SOX17
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30044643 |
- |
| Pulmonary Hypertension, Primary, 1 |
C4552070 |
ACVRL1
|
Causal
Pathogenic evidence from ClinVar
|
18159113, 19555857, 22632830, 23298310, 24753439, 26387786 |
ClinVar |
|
BMPR2
|
Causal
Pathogenic evidence from ClinVar
|
10903931, 10973254, 11015450, 11115378, 11502704, 12045205, 12139571, 12358323, 12821254, 14516151, 14583445, 14985116, 15055271, 15059534, 15146475, 15170098, 15591269, 15687131, 15965979, 16429395, 16717148, 16728714, 17641158, 18159113, 18221724, 18356561, 18364108, 18386374, 18503968, 18792970, 19206171, 19223935, 19555857, 20002458, 20095988, 20096498, 20496075, 20534176, 21737554, 21801371, 22632830, 23139147, 23298310, 23579436, 23592887, 23675998, 24132125, 24591673, 24936649, 25187962, 25429696, 25460361, 25612240, 26387786, 26699722, 28507310, 29650961 |
ClinVar |
|
CAV1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ENG
|
Causal
Pathogenic evidence from ClinVar
|
23298310, 26387786 |
ClinVar |
|
KCNK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMAD9
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HDAC1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22711276 |
- |
|
HDAC4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22711276 |
- |
|
HDAC5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22711276 |
- |
| Idiopathic pulmonary hypertension |
C0152171 |
BMPR2
|
Causal
Pathogenic evidence from ClinVar
|
26699722 |
ClinVar |
|
KCNK3
|
Causal
Pathogenic evidence from ClinVar
|
28388887 |
ClinVar |
|
SMAD9
|
Causal
Pathogenic evidence from ClinVar
|
26387786 |
ClinVar |
|
TBX4
|
Causal
Pathogenic evidence from ClinVar
|
27694411 |
ClinVar |
|
BMPR1B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22374147 |
- |
|
EIF2AK4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29844075 |
- |
|
KCNA5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
26167679 |
- |
|
SMAD1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29650961 |
- |
|
SMAD4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29650961 |
- |
| PULMONARY HYPERTENSION, PRIMARY, 3 |
C3809192 |
CAV1
|
Causal
Pathogenic evidence from ClinVar
|
22474227, 25898808, 29650961 |
ClinVar |
| PULMONARY HYPERTENSION, PRIMARY, 4 |
C3809198 |
KCNK3
|
Causal
Pathogenic evidence from ClinVar
|
23883380, 28388887 |
ClinVar |
| PULMONARY HYPERTENSION, PRIMARY, 2 |
C3888002 |
SMAD9
|
Causal
Pathogenic evidence from ClinVar
|
21898662, 26387786 |
ClinVar |
