NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950 GeneticVariation disease CLINVAR
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950 Biomarker disease GENOMICS_ENGLAND
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950 Biomarker disease CTD_human
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.700 Biomarker disease GENOMICS_ENGLAND
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.700 Biomarker disease CTD_human
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.700 CausalMutation disease CLINVAR
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
0.600 CausalMutation disease CLINVAR
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.120 CausalMutation group CLINVAR
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.120 GeneticVariation group CLINVAR
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
0.110 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker disease HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
0.100 Biomarker phenotype HPO
CUI: C0221373
Disease: Claw hand
Claw hand
0.100 Biomarker disease HPO
CUI: C0231712
Disease: Waddling gait
Waddling gait
0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 Biomarker phenotype HPO
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy
0.100 CausalMutation phenotype CLINVAR
Creatine phosphokinase serum increased
0.100 Biomarker phenotype HPO
Charcot-Marie-Tooth disease, Type 1C
0.100 CausalMutation disease CLINVAR
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
0.100 Biomarker disease HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
0.100 CausalMutation phenotype CLINVAR
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
0.100 Biomarker phenotype HPO
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot
0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
0.100 Biomarker disease HPO