MPZ, myelin protein zero, 4359

N. diseases: 7; N. variants: 42
Source: UNIPROT ×
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: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 30 1.000 None 1.000 39 30 1992 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 4 19 1.000 None 1.000 12 9 1992 2019
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.900 None 1.000 1 1 1992 2019
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
Charcot-Marie-Tooth disease, Type 2J 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 3 0.710 None 1.000 4 3 1999 2009
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
Charcot-Marie-Tooth disease, Type 2I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 11 0.700 None 1.000 5 11 1998 2004
CUI: C1843075
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.700 None 1.000 1 1 1999 1999
CUI: C4722277
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 		disease Disease or Syndrome 1 1 0.400 None 1.000 3 1 1996 2004