NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
A 0.810 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810 GeneticVariation UNIPROT
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
C 0.800 CausalMutation CLINVAR
dbSNP: rs59443585
rs59443585
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CT 0.800 CausalMutation CLINVAR
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.800 GeneticVariation UNIPROT
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F
CT 0.800 CausalMutation CLINVAR
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
T 0.800 CausalMutation CLINVAR
dbSNP: rs267607538
rs267607538
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I
C 0.710 CausalMutation CLINVAR
dbSNP: rs121913663
rs121913663
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F
A 0.700 CausalMutation CLINVAR
dbSNP: rs1411999109
rs1411999109
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs191346286
rs191346286
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs199422214
rs199422214
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F
A 0.700 CausalMutation CLINVAR
dbSNP: rs281865140
rs281865140
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I
G 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0239830
Disease:
Hand muscle atrophy
A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0728829
Disease:
Congenital pes cavus
A 0.700 GeneticVariation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0270913
Disease:
Charcot-Marie-Tooth disease, Type 1C
A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0878575
Disease:
Peripheral demyelination
A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I
T 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0031117
Disease:
Peripheral Neuropathy
A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1836450
Disease:
Distal lower limb muscle weakness
A 0.700 GeneticVariation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1857640
Disease:
Decreased nerve conduction velocity
A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0031117
Disease:
Peripheral Neuropathy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0427065
Disease:
Distal muscle weakness
A 0.700 CausalMutation CLINVAR