AHI1, Abelson helper integration site 1, 54806

N. diseases: 18; N. variants: 68
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: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 45 0.900 None 1.000 7 45 1992 2017
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 0.700 None 0.969 1 9 2004 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.410 None 1.000 1 2006 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 422 0.410 None 1.000 0 7 2015 2015
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 0.400 None 1.000 1 1 2012 2012
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 21 0.400 None 1.000 1 1 2016 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.400 None 1.000 1 2006 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.340 None 1.000 1 2008 2010
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 110 1 0.340 None 1.000 0 2013 2019
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 2010 2010
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2010 2010
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		disease Disease or Syndrome 5 65 0.300 strong 1.000 1 2006 2006
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 21 2 0.300 None 1.000 1 2010 2010
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2011 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2011 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 2 0.300 None 1.000 1 2011 2011
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 117 37 0.300 None 1.000 1 1992 1992
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 212 0.300 strong 0