SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607081
rs267607081
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1836727
Disease:
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
dbSNP: rs267607081
rs267607081
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1836727
Disease:
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 GeneticVariation UNIPROT Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. 19208381 2009
dbSNP: rs267607081
rs267607081
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1836727
Disease:
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 GeneticVariation UNIPROT Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. 15004559 2004
dbSNP: rs267607081
rs267607081
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1836727
Disease:
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 GeneticVariation UNIPROT Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. 10762540 2000