| Autosomal recessive Stickler syndrome |
250984 |
COL11A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL9A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL9A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL9A3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
LOXL3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Stickler syndrome type 2 |
90654 |
COL11A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Stickler syndrome, type 1 |
C2020284 |
COL11A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL2A1
|
Causal
Pathogenic evidence from ClinVar
|
1677770, 7977371, 11007540, 18541977, 20513134, 21922596 |
ClinVar |
|
COL9A2
|
Causal
Pathogenic evidence from ClinVar
|
21671392 |
ClinVar |
|
COL9A3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
24273071 |
- |
|
LOXL3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25663169 |
- |
| STICKLER SYNDROME, TYPE II (disorder) |
C1858084 |
COL11A1
|
Causal
Pathogenic evidence from ClinVar
|
8872475, 10486316, 10725403, 11668615, 17236192, 20513134, 27081569 |
ClinVar |
| Stickler syndrome (disorder) |
C0265253 |
COL2A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL9A1
|
Causal
Pathogenic evidence from ClinVar
|
15802199, 16718610, 16909383, 21421862 |
ClinVar |
|
COL9A2
|
Causal
Pathogenic evidence from ClinVar
|
15710493, 15802199, 17721977, 20686772, 21671392, 23159952, 23530037, 25852475, 27666725 |
ClinVar |
|
COL9A3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15802199, 18448257, 20686772, 24273071, 30450842, 31090205 |
- |
| Stickler syndrome type 1 |
90653 |
COL2A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Stickler syndrome, type 3 |
C1861481 |
COL2A1
|
Causal
Pathogenic evidence from ClinVar
|
16189708, 21438135 |
ClinVar |
|
COL11A2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15372529 |
- |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
C1836080 |
COL2A1
|
Causal
Pathogenic evidence from ClinVar
|
2543071, 8317498, 11007540, 15671297, 16752401, 17721977, 18541977, 21922596 |
ClinVar |
| STICKLER SYNDROME, TYPE IV |
C3279941 |
COL9A1
|
Causal
Pathogenic evidence from ClinVar
|
11565064, 16691584 |
ClinVar |
| STICKLER SYNDROME, TYPE V |
C3280342 |
COL9A2
|
Causal
Pathogenic evidence from ClinVar
|
12244547, 20358595, 21671392 |
ClinVar |
