TRIM32, tripartite motif containing 32, 22954

N. diseases: 7; N. variants: 7
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.
Limb-girdle muscular dystrophy type 2H
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 1 2 1.000 None 0.941 4 2 2002 2019
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.720 limited 1.000 2 2 2002 2011
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 7 0.470 strong 1.000 0 1 1998 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 117 37 0.400 limited 1.000 1 2006 2006
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 110 1 0.310 None 1.000 0 2014 2014
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 17 65 0.300 strong 1.000 1 2008 2008
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 212 0.300 None 0