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 		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 		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
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