SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: WAARDENBURG SYNDROME, TYPE IIE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 Biomarker disease GENOMICS_ENGLAND Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 Biomarker disease GENOMICS_ENGLAND Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation disease UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation disease UNIPROT Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 Biomarker disease GENOMICS_ENGLAND Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		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
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation disease UNIPROT A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 10441344 1999
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		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
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 CausalMutation disease CLINVAR
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 Biomarker disease CTD_human
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation disease CLINVAR