PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		disease Disease or Syndrome 1 8 0.720 None 1.000 5 8 2000 2012
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2019 2019
CUI: C0948168
Disease: Bone marrow toxicity
Bone marrow toxicity 		disease Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION 		phenotype Disease or Syndrome 222 3 0.010 None < 0.001 1 2017 2017
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		phenotype Finding 26 1 0.100 None 0
CUI: C1832776
Disease: Hypertrophic nerve changes
Hypertrophic nerve changes 		phenotype Finding 6 0.100 None 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		phenotype Finding 21 0.100 None 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		phenotype Finding 28 1 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		phenotype Finding 28 0.100 None 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		phenotype Finding 41 0.100 None 0
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		phenotype Finding 14 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype Finding 70 4 0.100 None 0
CUI: C1866637
Disease: Basal lamina onion bulb formation
Basal lamina onion bulb formation 		phenotype Finding 3 0.100 None 0
CUI: C0085632
Disease: Apathy
Apathy 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.010 None 1.000 1 2018 2018
CUI: C0013146
Disease: Drug abuse
Drug abuse 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.010 None 1.000 1 2018 2018
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2017 2017
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0221373
Disease: Claw hand
Claw hand 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 63 3 0.100 None 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.100 None 1.000 17 3 2000 2019
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.780 None 1.000 13 6 2000 2019