| Erythrocytosis, Familial, 3 |
C1853286 |
EGLN1
|
Causal
Pathogenic evidence from ClinVar
|
16407130, 17579185 |
ClinVar |
| Erythrocytosis, Familial, 4 |
C2673187 |
EPAS1
|
Causal
Pathogenic evidence from ClinVar
|
18184961, 18378852, 19208626, 22367913 |
ClinVar |
| Erythrocytosis familial, 1 |
C4551637 |
EPO
|
Causal
Pathogenic evidence from ClinVar
|
27651169 |
ClinVar |
|
HBA1
|
Causal
Pathogenic evidence from ClinVar
|
15921161 |
ClinVar |
|
HBB
|
Causal
Pathogenic evidence from ClinVar
|
15921161 |
ClinVar |
|
ATXN2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
EGLN2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22274579 |
- |
|
EPOR
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
8506290, 8608241, 11929803, 17488692 |
- |
|
HIF1A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22274579 |
- |
|
JAK2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
PKLR
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22274579 |
- |
|
SH2B3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| ERYTHROCYTOSIS, FAMILIAL, 5 |
C4693552 |
EPO
|
Causal
Pathogenic evidence from ClinVar
|
27651169, 28283061, 29514032 |
ClinVar |
| ERYTHROCYTOSIS, FAMILIAL, 7 |
C4693823 |
HBA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HBA2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| ERYTHROCYTOSIS, FAMILIAL, 6 |
C4693822 |
HBB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Familial erythrocytosis |
C0152264 |
EPOR
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
9192789, 9359528 |
- |
| ERYTHROCYTOSIS, FAMILIAL, 2 |
C1837915 |
VHL
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
982991, 7563486, 7728151, 7759077, 7977367, 7987306, 8493574, 8634692, 8707293, 8730290, 8772572, 8956040, 9058738, 9447969, 9452032, 9663592, 9681856, 9829911, 9829912, 10205047, 10408776, 10567493, 10761708, 10823831, 10878807, 10900011, 11257211, 11309459, 11331612, 11331613, 11409863, 11483638, 11739384, 11865071, 11987242, 12000816, 12114495, 12202531, 12393546, 12415268, 12510195, 12603429, 12624160, 12807974, 12844285, 14722919, 14726398, 14973063, 14987375, 15002726, 15177666, 15300849, 15574766, 15611064, 15642680, 16142346, 16210343, 16261165, 16314641, 16452184, 16572651, 17024664, 17102083, 17350623, 17661816, 17688370, 17922902, 17967880, 17992257, 18446368, 18567581, 19029228, 19030229, 19228690, 19252526, 19270817, 19336503, 19408298, 19464396, 19494350, 19574279, 19602254, 19763184, 19996202, 20064270, 20151405, 20447124, 20660572, 20855504, 21362373, 21454469, 21463266, 21606165, 21715564, 22071692, 22357542, 22799452, 23327821, 23407287, 23512077, 23626751, 23632291, 23772956, 23840444, 2384 |
- |
