rs746748
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Age at menopause
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs7267979
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Alkaline phosphatase measurement
G
0.800
GeneticVariation
GWASDB
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
22001757
2011
rs7267979
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Alkaline phosphatase measurement
G
0.800
GeneticVariation
GWASCAT
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
22001757
2011
rs587777602
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Autosomal recessive retinitis pigmentosa
0.010
GeneticVariation
BEFREE
Another homozygous mutation (p.His372Gln ) was detected in 1 affected individual (RP-1487) from a cohort of 378 unrelated arRP and syndromic RP patients.
24697911
2014
rs1303044966
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Cataract
C
0.700
CausalMutation
CLINVAR
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Cerebellar atrophy
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
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Cerebellar Dysmetria
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
rs1568725951
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Cone Dystrophy
T
0.700
CausalMutation
CLINVAR
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Congenital pes cavus
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
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Decreased tendon reflex
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
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Distal sensory impairment
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
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Dysarthria
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
rs2236180
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Forced expiratory volume function
T
0.700
GeneticVariation
GWASCAT
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
30804560
2019
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Hyperreflexia
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
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Intention tremor
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
rs2297497
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Lymphocyte Count measurement
0.700
GeneticVariation
GWASDB
The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.
22286170
2012
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Nystagmus
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
rs1303044966
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
obsolete Rod-cone dystrophy
C
0.700
CausalMutation
CLINVAR
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
obsolete Rod-cone dystrophy
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
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Optic Atrophy
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
rs2236180
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
peak expiratory flow (procedure)
T
0.700
GeneticVariation
GWASCAT
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
30804560
2019
rs1555817157
×
Entrez Id:
26090
Gene Symbol:
ABHD12
ABHD12
Polyneuropathy
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
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
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
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