SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199750760
rs199750760
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE The patient with a homozygous G41V mutation had impaired hearing in both ears, whereas the patient with a heterozygous L80V mutation showed subtle hearing impairment in the left ear. 30914325 2019
dbSNP: rs139883
rs139883
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE In conclusion, the SOX10 rs139883 polymorphism influenced the age of onset of schizophrenia in a gender-specific manner and this may represent a vital genetic clue for the etiology of schizophrenia. 23456610 2013
dbSNP: rs74315514
rs74315514
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1866425
Disease:
Yemenite deaf-blind hypopigmentation syndrome 		0.010 GeneticVariation BEFREE The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. 16921166 2006
dbSNP: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1866425
Disease:
Yemenite deaf-blind hypopigmentation syndrome 		0.010 GeneticVariation BEFREE The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. 16921166 2006
dbSNP: rs74315520
rs74315520
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1866425
Disease:
Yemenite deaf-blind hypopigmentation syndrome 		0.010 GeneticVariation BEFREE The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. 16921166 2006
dbSNP: rs74315521
rs74315521
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0393818
Disease:
Congenital hypomyelinating neuropathy 		0.010 GeneticVariation BEFREE We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X). 12447940 2002
dbSNP: rs74315521
rs74315521
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1848519
Disease:
WAARDENBURG SYNDROME, TYPE 4A 		0.010 GeneticVariation BEFREE We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X). 12447940 2002
dbSNP: rs1365019464
rs1365019464
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE The properties of three mutant human endothelin B receptor (hETB) (G57S, R319W and P383L) in isolated HSCR were analyzed. 11471546 2001
dbSNP: rs139887
rs139887
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0036341
Disease:
Schizophrenia 		0.020 GeneticVariation BEFREE Our previous study showed that a single nucleotide polymorphism (SNP) rs139887 in sex-determining region Y-box 10 (SOX10) gene was associated with the age of onset in schizophrenia. 23456610 2013
dbSNP: rs139887
rs139887
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0036341
Disease:
Schizophrenia 		0.020 GeneticVariation BEFREE In conclusion, the SOX10 rs139887 polymorphism was related to the development of schizophrenia in a gender-specific manner, and may be a significant genetic marker for managing subgroups and etiological clues in schizophrenia. 22640896 2012
dbSNP: rs1555937398
rs1555937398
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		C 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555938422
rs1555938422
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		A 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555939415
rs1555939415
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		G 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555939564
rs1555939564
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		G 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
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: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
dbSNP: rs750566714
rs750566714
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		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: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation UNIPROT Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
dbSNP: rs750566714
rs750566714
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation UNIPROT Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
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
dbSNP: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation UNIPROT A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 10441344 1999
dbSNP: rs750566714
rs750566714
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation UNIPROT A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 10441344 1999
dbSNP: rs1057518656
rs1057518656
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		C 0.700 GeneticVariation CLINVAR