rs121909117
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
rs121909117
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
|
0.800 |
GeneticVariation |
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 |
rs121909117
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
|
0.800 |
GeneticVariation |
UNIPROT |
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
|
9462749 |
1998 |
rs267607081
|
POLR2F;SOX10
|
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 |
rs267607081
|
POLR2F;SOX10
|
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 |
rs267607081
|
POLR2F;SOX10
|
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 |
rs267607081
|
POLR2F;SOX10
|
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 |
rs74315515
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
|
17999358 |
2007 |
rs74315515
|
POLR2F;SOX10
|
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 |
rs74315515
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
rs750566714
|
POLR2F;SOX10
|
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 |
rs750566714
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
rs750566714
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
|
17999358 |
2007 |
rs139887
|
POLR2F;SOX10
|
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 |
rs139887
|
POLR2F;SOX10
|
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 |
rs1365019464
|
POLR2F;SOX10
|
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 |
rs139883
|
POLR2F;SOX10
|
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 |
rs199750760
|
POLR2F;SOX10
|
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 |
rs74315514
|
POLR2F;SOX10
|
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 |
rs74315515
|
POLR2F;SOX10
|
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 |
rs74315520
|
POLR2F;SOX10
|
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 |
rs74315521
|
POLR2F;SOX10
|
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 |
rs74315521
|
POLR2F;SOX10
|
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 |
rs121909117
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1555937400
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|