PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.780 Biomarker disease CTD_human
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.720 Biomarker disease CTD_human
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.720 Biomarker disease GENOMICS_ENGLAND
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.720 Biomarker disease GENOMICS_ENGLAND
Hereditary, Type VII, Motor and Sensory Neuropathy
0.300 Biomarker disease CTD_human
Hereditary Motor and Sensory Neuropathies
0.300 Biomarker group CTD_human
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease 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: C0234146
Disease: Absent reflex
Absent reflex
0.100 Biomarker phenotype HPO
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
0.100 Biomarker phenotype HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis
0.100 Biomarker disease HPO
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
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
0.100 Biomarker phenotype HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
0.100 Biomarker disease HPO
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb
0.100 Biomarker phenotype HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
0.100 Biomarker disease HPO
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination
0.100 Biomarker phenotype HPO