Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		disease 0.900 None 1.000 11 45 1992 2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.700 None 0.969 32 13 2004 2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.410 None 1.000 2 0 2006 2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.410 None 1.000 1 7 2015 2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.400 None 1.000 13 2 2006 2018
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease 0.400 None 1.000 1 1 2012 2012
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		disease 0.400 None 1.000 1 1 2016 2016
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.350 None 1.000 5 0 2006 2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.340 None 1.000 4 2 2013 2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.340 None 1.000 4 0 2008 2010
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease 0.310 None < 0.001 1 0 2010 2010
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		disease 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype 0.300 None 1.000 1 0 2010 2010
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 None 1.000 1 0 1992 1992
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group 0.300 None 1.000 1 0 2010 2010
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype 0.300 None 1.000 1 0 2011 2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 strong 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.130 None 1.000 3 0 2006 2010
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.120 None 0.667 3 1 2007 2010
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.120 None 1.000 2 0 2010 2012
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease 0.110 None 1.000 3 1 2011 2018
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease 0.110 None 1.000 2 1 2002 2017