| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. | 21898658 | 2011 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. | 21898658 | 2011 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. | 17999358 | 2007 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. | 17999358 | 2007 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. | 10762540 | 2000 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. | 10441344 | 1999 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. | 9760192 | 1998 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | GeneticVariation | disease | CLINVAR | |||||||
|
0.300 | Biomarker | disease | CTD_human | Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). | 9158138 | 1997 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | |||||||
|
0.100 | GeneticVariation | disease | CLINVAR |