| Tumoral calcinosis |
C0263628 |
FGF23
|
Causal
Pathogenic evidence from ClinVar
|
17710231 |
ClinVar |
|
GALNT3
|
Causal
Pathogenic evidence from ClinVar
|
17710231 |
ClinVar |
|
AHSG
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
16177000 |
- |
|
ALPL
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21193197 |
- |
|
BGLAP
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
C6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
CASP3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
CCL2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21193197, 21335463 |
- |
|
COL18A1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
COL1A1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
CTC1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22267198 |
- |
|
DMD
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
18340010 |
- |
|
EPO
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
12148126 |
- |
|
FCGR1A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
IL18
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
IL1B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
ITGB1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
18340010 |
- |
|
ITGB2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
JAK2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
KL
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
17710231 |
- |
|
LCN2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
LSP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
LY86
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
MMP2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15545515, 21193197 |
- |
|
MMP9
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15545515, 21193197 |
- |
|
NOTCH1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22110751 |
- |
|
PDGFB
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25938945 |
- |
|
PDGFRB
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25938945 |
- |
|
POMC
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
6143199 |
- |
|
PTPN6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
PYCARD
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
RIPK3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
SLC20A2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25938945 |
- |
|
SLC22A6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
12803500 |
- |
|
SNAI2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29358327 |
- |
|
SPN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
SPP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21193197, 21335463 |
- |
|
TGFB1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
24142982 |
- |
|
TIMP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21335463 |
- |
|
TIMP2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
24142982 |
- |
|
TP53
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
29358327 |
- |
| TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL |
C1876187 |
FGF23
|
Causal
Pathogenic evidence from ClinVar
|
15590700, 19188744, 22142751 |
ClinVar |
|
GALNT3
|
Causal
Pathogenic evidence from ClinVar
|
15133511, 21347749 |
ClinVar |
|
KL
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
17710231, 22142751 |
- |
| TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 |
C4692564 |
FGF23
|
Causal
Pathogenic evidence from ClinVar
|
15590700, 19188744, 22142751 |
ClinVar |
|
GALNT3
|
Causal
Pathogenic evidence from ClinVar
|
15133511, 15687324, 21347749, 27604308 |
ClinVar |
|
KL
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
17710231, 22142751 |
- |
| TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 |
C4693863 |
FGF23
|
Causal
Pathogenic evidence from ClinVar
|
15590700, 16030159, 16151858, 24680727 |
ClinVar |
| TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 |
C4693864 |
KL
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
17710231 |
- |
| Tumoral Calcinosis, Normophosphatemic, Familial |
C1864861 |
SAMD9
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
16960814, 18094730, 28346228 |
- |