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: 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: 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: rs387907172
rs387907172
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776891
rs587776891
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs759947457
rs759947457
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs863224870
rs863224870
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: rs878855083
rs878855083
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs957683798
rs957683798
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C3496228
Disease:
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		C 0.700 CausalMutation 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