CEP41, centrosomal protein 41, 95681

N. diseases: 8; N. variants: 3
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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 30 175 0.520 limited 1.000 1 2012 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 117 37 0.400 None 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 85 75 0.320 None 1.000 1 2011 2019
CUI: C3280897
Disease: JOUBERT SYNDROME 15
JOUBERT SYNDROME 15 		disease Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 5 0.300 None 1.000 1 2012 2012
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 21 31 0.300 None 1.000 1 2012 2012
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 212 0.300 limited 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 110 1 0.300 None 0