| Autosomal recessive hypophosphatemic rickets |
289176 |
DMP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ENPP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Hypophosphatemic Rickets |
C1704375 |
DMP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ENPP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FGF23
|
Causal
Pathogenic evidence from ClinVar
|
11062477, 19655082 |
ClinVar |
|
PHEX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CLCN5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CTNS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
FAH
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
FBN1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
HNF4A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
HRAS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
KRAS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
NAB2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
NRAS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
SLC34A3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
STAT6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
C4551495 |
DMP1
|
Causal
Pathogenic evidence from ClinVar
|
17033621 |
ClinVar |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
C2750078 |
ENPP1
|
Causal
Pathogenic evidence from ClinVar
|
15605415, 20137772, 20137773, 25741938 |
ClinVar |
| Autosomal dominant hypophosphatemic rickets |
89937, C0342642 |
FGF23
|
Causal
Pathogenic evidence from ClinVar
|
11062477, 11409890, 15590700, 16638743, 19655082 |
ClinVar |
| Familial Hypophosphatemic Rickets |
C3536983 |
PHEX
|
Causal
Pathogenic evidence from ClinVar
|
3414685, 11414762, 18775977 |
ClinVar |
|
CLCN5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
PTCHD1-AS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
VDR
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
9284761 |
- |
| Hypophosphatemic Rickets, X-Linked Dominant |
C0733682 |
PHEX
|
Causal
Pathogenic evidence from ClinVar
|
3414685, 9097956, 9106524, 9199930, 9768646, 9768674, 10439971, 10737991, 11004247, 11414762, 11468271, 12727977, 18775977, 19219621, 24684036, 26051471, 29460029, 31065622 |
ClinVar |
|
CLCN5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
PTCHD1-AS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
9199930, 11468271, 12727977, 24684036 |
- |
