rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
29571850
2018
rs587777604
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
29571850
2018
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
A
0.700
CausalMutation
CLINVAR
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
29571850
2018
rs772987424
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.700
GeneticVariation
UNIPROT
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
29571850
2018
rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
27890673
2017
rs587777604
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
27890673
2017
rs772987424
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.700
GeneticVariation
UNIPROT
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
27890673
2017
rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
25743180
2015
rs587777604
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
25743180
2015
rs772987424
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.700
GeneticVariation
UNIPROT
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
25743180
2015
rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
24697911
2014
rs587777604
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
24697911
2014
rs772987424
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.700
GeneticVariation
UNIPROT
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
24697911
2014
rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
24027063
2013
rs587777604
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
24027063
2013
rs772987424
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.700
GeneticVariation
UNIPROT
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
24027063
2013
rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
22938382
2012
rs587777604
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
22938382
2012
rs772987424
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.700
GeneticVariation
UNIPROT
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
22938382
2012
rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
20797687
2010
rs587777604
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.800
GeneticVariation
UNIPROT
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
20797687
2010
rs772987424
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.700
GeneticVariation
UNIPROT
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
20797687
2010
rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
C
0.800
CausalMutation
CLINVAR
rs587777604
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
G
0.800
CausalMutation
CLINVAR
rs1303044966
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
C
0.700
CausalMutation
CLINVAR