SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Waardenburg Syndrome, Type 4c ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease GENOMICS_ENGLAND SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis. 28390600 2017
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene. 27240497 2016
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain. 24311220 2014
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN Sox10 expressing cells in the lateral wall of the aged mouse and human cochlea. 24887110 2014
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II. 24735604 2014
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. 23643381 2013
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 GeneticVariation disease UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease GENOMICS_ENGLAND Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease GENOMICS_ENGLAND Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease MGD Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease. 20739296 2010
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. 18348274 2008
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 GeneticVariation disease UNIPROT A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. 18348274 2008
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease GENOMICS_ENGLAND Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. 12668617 2003
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. 10973953 2000
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. 10982026 2000
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. 9425902 1998
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 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: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 GeneticVariation disease UNIPROT SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 9462749 1998
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CLINGEN SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 9462749 1998
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease GENOMICS_ENGLAND Third World aid. 2364338 1990
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 GeneticVariation disease CLINVAR
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 CausalMutation disease CLINVAR
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CTD_human