RAB40AL, RAB40A like, 282808

N. diseases: 6; N. variants: 1
Source: CURATED ×
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: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
Martin-Probst Deafness-Mental Retardation Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 1 0.600 limited 1.000 2 1 2012 2015
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 38 0.300 None 1.000 1 2012 2012
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group Pathological Conditions, Signs and Symptoms Pathologic Function 36 0.300 None 1.000 1 2012 2012
CUI: C0282631
Disease: Facies
Facies 		group Pathological Conditions, Signs and Symptoms Organism Attribute 10 0.300 None 1.000 1 2012 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 156 0.300 None 1.000 1 2012 2012
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 29 0.300 None 1.000 1 2012 2012