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: C1866637
Disease: Basal lamina onion bulb formation
Basal lamina onion bulb formation 		phenotype Finding 3 0.100 None 0
CUI: C1854150
Disease: Charcot-Marie-Tooth disease, Type 2B2
Charcot-Marie-Tooth disease, Type 2B2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2001 2001
CUI: C0019816
Disease: Hereditary, Type VII, Motor and Sensory Neuropathy
Hereditary, Type VII, Motor and Sensory Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.300 None 0
CUI: C1832776
Disease: Hypertrophic nerve changes
Hypertrophic nerve changes 		phenotype Finding 6 0.100 None 0
CUI: C4025799
Disease: Ulnar claw
Ulnar claw 		disease Musculoskeletal Diseases Congenital Abnormality 9 0.100 None 0
CUI: C0948168
Disease: Bone marrow toxicity
Bone marrow toxicity 		disease Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 77 0.110 None 1.000 10 9 2001 2017
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: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		phenotype Finding 21 0.100 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		phenotype Finding 26 1 0.100 None 0
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination 		phenotype Nervous System Diseases Pathologic Function 27 3 0.100 None 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		phenotype Finding 28 1 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: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 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: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 42 3 0.100 None 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 0
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.300 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: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype Finding 70 4 0.100 None 0
CUI: C3873567
Disease: Peripheral neuropathy due to and following chemotherapy
Peripheral neuropathy due to and following chemotherapy 		disease Nervous System Diseases Disease or Syndrome 72 10 0.010 None 1.000 1 2014 2014
CUI: C0006370
Disease: Bulimia
Bulimia 		disease Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 76 30 0.010 None 1.000 1 2018 2018
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 77 30 0.010 None 1.000 1 2018 2018