| Dyskeratosis Congenita |
C0265965 |
ACD
|
Causal
Pathogenic evidence from ClinVar
|
28297620 |
ClinVar |
|
CTC1
|
Causal
Pathogenic evidence from ClinVar
|
22267198, 22387016, 22532422, 22556055, 22899577, 23869908, 24115768, 28297620, 29481669 |
ClinVar |
|
DKC1
|
Causal
Pathogenic evidence from ClinVar
|
9590285, 10364516, 10583221, 11379875, 11491307, 14648217, 17785587, 19391112, 19835419, 21602826, 22058290, 22299032, 23660516, 24914498, 25992652, 28297620 |
ClinVar |
|
NHP2
|
Causal
Pathogenic evidence from ClinVar
|
11160879, 20008900, 22965356, 28297620 |
ClinVar |
|
NOP10
|
Causal
Pathogenic evidence from ClinVar
|
17507419, 22965356, 28297620 |
ClinVar |
|
PARN
|
Causal
Pathogenic evidence from ClinVar
|
25893599, 28297620 |
ClinVar |
|
RTEL1
|
Causal
Pathogenic evidence from ClinVar
|
23329068, 23453664, 23829372, 23959892, 24009516, 24582487, 25607374, 25848748, 26025130, 28297620 |
ClinVar |
|
TERC
|
Causal
Pathogenic evidence from ClinVar
|
11574891, 12090986, 12525685, 17785587, 28297620 |
ClinVar |
|
TERT
|
Causal
Pathogenic evidence from ClinVar
|
16247010, 17785587, 18042801, 18460650, 28297620 |
ClinVar |
|
TINF2
|
Causal
Pathogenic evidence from ClinVar
|
18252230, 18669893, 21536674, 28297620 |
ClinVar |
|
WRAP53
|
Causal
Pathogenic evidence from ClinVar
|
21072240, 21205863, 21602826, 25467444, 28297620 |
ClinVar |
|
GAR1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22299032 |
- |
|
NAF1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
28297620 |
- |
|
NPM1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
31570891 |
- |
|
RMND5B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
RTEL1-TNFRSF6B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23329068, 23453664, 23829372, 23959892, 24009516, 24582487, 25607374, 25848748, 26025130 |
- |
|
STN1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
28297620 |
- |
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 |
C4225284 |
ACD
|
Causal
Pathogenic evidence from ClinVar
|
25205116, 25233904 |
ClinVar |
| Dyskeratosis congenita |
1775 |
CTC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DKC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NHP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NOP10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PARN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RTEL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TERC
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TERT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TINF2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
WRAP53
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPM1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 |
C4225356 |
DKC1
|
Causal
Pathogenic evidence from ClinVar
|
10364516 |
ClinVar |
|
PARN
|
Causal
Pathogenic evidence from ClinVar
|
25848748, 25893599, 26342108, 31448843 |
ClinVar |
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 |
C4551974 |
INPP4A
|
Causal
Pathogenic evidence from ClinVar
|
15849264, 21931702 |
ClinVar |
|
TERC
|
Causal
Pathogenic evidence from ClinVar
|
11574891, 12090986, 22285015, 22341970 |
ClinVar |
| Dyskeratosis Congenita, Autosomal Recessive |
C3502105 |
NHP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NOP10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 |
C3151441 |
NHP2
|
Causal
Pathogenic evidence from ClinVar
|
11160879, 18523010, 20008900, 25467444 |
ClinVar |
|
RMND5B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 |
C1857144 |
NOP10
|
Causal
Pathogenic evidence from ClinVar
|
17507419 |
ClinVar |
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 |
C3808802 |
RTEL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RTEL1-TNFRSF6B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 |
C3554656 |
RTEL1
|
Causal
Pathogenic evidence from ClinVar
|
19461895, 23329068, 23453664, 23591994, 23959892, 24009516, 24582487, 25047097, 25099625, 25607374, 25620558, 26025130, 26808564, 27128385, 27415407, 27418648, 28099038, 28495916, 28930861, 29146883 |
ClinVar |
|
RBM8A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
17236129 |
- |
|
RTEL1-TNFRSF6B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19461895, 23329068, 23453664, 23959892, 24009516, 25047097, 25099625, 25607374, 25620558, 26025130, 26808564, 27128385, 27415407, 27418648, 28099038, 28930861 |
- |
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT |
C1851970 |
TERC
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TERT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TINF2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 |
C3151443 |
TERT
|
Causal
Pathogenic evidence from ClinVar
|
15814878, 15885610, 16247010, 16332973, 17785587, 18042801, 18460650, 21483807, 21602826, 22285015, 27069254 |
ClinVar |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 |
C3151444 |
TERT
|
Causal
Pathogenic evidence from ClinVar
|
17785587 |
ClinVar |
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 |
C3151445 |
TINF2
|
Causal
Pathogenic evidence from ClinVar
|
18252230, 18979121, 21536674, 29483670 |
ClinVar |
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 |
C3151442 |
WRAP53
|
Causal
Pathogenic evidence from ClinVar
|
21205863, 21602826, 22285015 |
ClinVar |
