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: 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: 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: 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: 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
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0026838
Disease:
Muscle Spasticity 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1247665387
rs1247665387
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C1328407
Disease:
Hip Dysplasia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1274600570
rs1274600570
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: rs1405183655
rs1405183655
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0151786
Disease:
Muscle Weakness 		0.010 GeneticVariation BEFREE In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). 28821231 2017
dbSNP: rs1405183655
rs1405183655
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0030552
Disease:
Paresis 		0.010 GeneticVariation BEFREE In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). 28821231 2017
dbSNP: rs1567632441
rs1567632441
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1567633766
rs1567633766
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		T 0.700 CausalMutation CLINVAR
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 		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