FA2H, fatty acid 2-hydroxylase, 79152

N. diseases: 131; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907039
rs387907039
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.810 GeneticVariation BEFREE Here we report homozygous mutations in the fatty acid 2-hydroxylase gene (FA2H) in the original family used to define the SPG35 locus (p.Arg235Cys) as well as in a previously unreported Pakistani family with a similar phenotype (p.Arg53_Ile58del). 20104589 2010
dbSNP: rs387907039
rs387907039
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.810 GeneticVariation UNIPROT Here we report homozygous mutations in the fatty acid 2-hydroxylase gene (FA2H) in the original family used to define the SPG35 locus (p.Arg235Cys) as well as in a previously unreported Pakistani family with a similar phenotype (p.Arg53_Ile58del). 20104589 2010
dbSNP: rs387907039
rs387907039
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.810 GeneticVariation UNIPROT Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 20853438 2010
dbSNP: rs387907039
rs387907039
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.810 GeneticVariation UNIPROT Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. 19068277 2008
dbSNP: rs387907039
rs387907039
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121918217
rs121918217
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.800 GeneticVariation UNIPROT Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). 20104589 2010
dbSNP: rs121918217
rs121918217
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.800 GeneticVariation UNIPROT Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 20853438 2010
dbSNP: rs387907040
rs387907040
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.800 GeneticVariation UNIPROT Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 20853438 2010
dbSNP: rs387907040
rs387907040
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.800 GeneticVariation UNIPROT Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). 20104589 2010
dbSNP: rs121918217
rs121918217
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.800 GeneticVariation UNIPROT Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. 19068277 2008
dbSNP: rs387907040
rs387907040
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		0.800 GeneticVariation UNIPROT Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. 19068277 2008
dbSNP: rs121918217
rs121918217
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907040
rs387907040
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0039070
Disease:
Syncope 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0454644
Disease:
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0575081
Disease:
Gait abnormality 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C1836830
Disease:
Developmental regression 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C4072904
Disease:
Secondary Caesarian section 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0005697
Disease:
Neurogenic Urinary Bladder 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0013421
Disease:
Dystonia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C1854301
Disease:
Motor delay 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0565599
Disease:
Maternal hypertension 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0333068
Disease:
Flexion contracture 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0549629
Disease:
Abnormal delivery 		A 0.700 GeneticVariation CLINVAR