AKT3, AKT serine/threonine kinase 3, 10000

N. diseases: 9; N. variants: 19
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.
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
disease Disease or Syndrome 1 4 0.600 None 1.000 4 4 2012 2014
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.500 None 1.000 1 2012 2012
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 4 0.460 None 1.000 1 2012 2017
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 248 212 0.400 None 1.000 0 1 2004 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 111 31 0.380 None 0.875 0 1 2014 2019
Malformations of Cortical Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 3 0.320 None 1.000 1 2012 2015
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 14 5 0.310 None 1.000 1 2012 2015
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 5 0.300 None 1.000 2 2012 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 117 37 0.300 limited 1.000 1 2012 2012