Source: MGD

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: 90956
Gene Symbol: ADCK2
ADCK2 		aarF domain containing kinase 2 3.6E-07
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group 0.200 None 1.000 1 0 2019 2019
Entrez Id: 197135
Gene Symbol: PATL2
PATL2 		PAT1 homolog 2 1.000 1.2E-11
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases 		group 0.200 None 0 0
Entrez Id: 6169
Gene Symbol: RPL38
RPL38 		ribosomal protein L38 0.890 0.038 0.83
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease 0.210 None 1.000 2 0 1979 2011
Entrez Id: 196500
Gene Symbol: PIANP
PIANP 		PILR alpha associated neural protein 0.931 0.038 0.38
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.200 None 1.000 1 0 2019 2019
Entrez Id: 347730
Gene Symbol: LRRTM1
LRRTM1 		leucine rich repeat transmembrane neuronal 1 0.931 0.038 0.59
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.540 None 1.000 1 0 2007 2014
Entrez Id: 5276
Gene Symbol: SERPINI2
SERPINI2 		serpin family I member 2 0.931 0.038 7.0E-15
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease 0.200 None 1.000 1 0 2005 2005
Entrez Id: 55582
Gene Symbol: KIF27
KIF27 		kinesin family member 27 1.000 0.038 1.8E-24
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 58511
Gene Symbol: DNASE2B
DNASE2B 		deoxyribonuclease 2 beta 1.000 0.038 3.7E-16
CUI: C0029531
Disease: Other cataract
Other cataract 		disease 0.200 None 1.000 1 0 2003 2003
Entrez Id: 80217
Gene Symbol: CFAP43
CFAP43 		cilia and flagella associated protein 43 0.931 0.038 1.3E-22
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19 		disease 0.800 limited 1.000 1 0 2017 2018
Entrez Id: 284467
Gene Symbol: TAFA3
TAFA3 		TAFA chemokine like family member 3 1.000 0.038 3.7E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.200 None 0 0
Entrez Id: 56890
Gene Symbol: MDM1
MDM1 		Mdm1 nuclear protein 1.000 0.038 4.7E-12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.210 None < 0.001 0 0 2008 2008
Entrez Id: 102723475
Gene Symbol: KCNE1B
KCNE1B 		potassium voltage-gated channel subfamily E regulatory subunit 1B 1.000 0.077
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease 0.200 None 1.000 6 0 1996 2005
Entrez Id: 51666
Gene Symbol: ASB4
ASB4 		ankyrin repeat and SOCS box containing 4 0.931 0.077 1.1E-10
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype 0.200 None 1.000 2 0 2014 2016
Entrez Id: 158067
Gene Symbol: AK8
AK8 		adenylate kinase 8 0.931 0.077 2.0E-11
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 317762
Gene Symbol: CCDC85C
CCDC85C 		coiled-coil domain containing 85C 0.890 0.077 0.75
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.230 None 1.000 1 0 2004 2020
Entrez Id: 55779
Gene Symbol: CFAP44
CFAP44 		cilia and flagella associated protein 44 0.792 0.077 6.1E-15
CUI: C4539824
Disease: SPERMATOGENIC FAILURE 20
SPERMATOGENIC FAILURE 20 		disease 0.600 None 1.000 1 0 2017 2017
Entrez Id: 57048
Gene Symbol: PLSCR3
PLSCR3 		phospholipid scramblase 3 1.000 0.077
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 645811
Gene Symbol: CCDC154
CCDC154 		coiled-coil domain containing 154 0.861 0.077 7.2E-17
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		disease 0.200 None 1.000 1 0 2009 2009
Entrez Id: 645811
Gene Symbol: CCDC154
CCDC154 		coiled-coil domain containing 154 0.861 0.077 7.2E-17
CUI: C4551971
Disease: Albers-Schonberg Disease, Autosomal Recessive
Albers-Schonberg Disease, Autosomal Recessive 		disease 0.200 None 1.000 1 0 2009 2009
Entrez Id: 9364
Gene Symbol: RAB28
RAB28 		RAB28, member RAS oncogene family 0.792 0.077 2.5E-02
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		disease 0.900 limited 1.000 1 0 2013 2018
Entrez Id: 3744
Gene Symbol: KCNA10
KCNA10 		potassium voltage-gated channel subfamily A member 10 0.931 0.077 8.4E-04
CUI: C0042594
Disease: Vestibular Diseases
Vestibular Diseases 		group 0.200 None 0 0
Entrez Id: 401265
Gene Symbol: KLHL31
KLHL31 		kelch like family member 31 1.000 0.077 3.9E-06
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease 0.200 None 0 0
Entrez Id: 5704
Gene Symbol: PSMC4
PSMC4 		proteasome 26S subunit, ATPase 4 0.931 0.077 0.30
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.200 None 0 0
Entrez Id: 64847
Gene Symbol: SPATA20
SPATA20 		spermatogenesis associated 20 0.931 0.077 2.0E-09
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease 0.200 None 0 0
Entrez Id: 84957
Gene Symbol: RELT
RELT 		RELT TNF receptor 0.821 0.077 1.1E-06
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.320 None 1.000 0 0 2019 2019