Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
1.000 Biomarker disease CTD_human
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
1.000 Biomarker disease GENOMICS_ENGLAND
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
1.000 GeneticVariation disease CLINVAR
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
0.700 CausalMutation disease CLINVAR
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
0.700 Biomarker disease CTD_human
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.140 Biomarker disease HPO
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves
0.120 Biomarker disease HPO
CUI: C0494491
Disease: Mononeuropathies
Mononeuropathies
0.110 Biomarker group HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
0.100 CausalMutation phenotype CLINVAR
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker disease HPO
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.100 Biomarker disease HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue
0.100 Biomarker phenotype HPO
CUI: C0241423
Disease: Atrophy of tongue
Atrophy of tongue
0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
0.100 CausalMutation phenotype CLINVAR
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
0.100 Biomarker disease HPO
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
0.100 CausalMutation disease CLINVAR
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.100 Biomarker phenotype HPO
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb
0.100 Biomarker phenotype HPO
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration
0.100 Biomarker phenotype HPO