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: 157657
Gene Symbol: C8orf37
C8orf37 		chromosome 8 open reading frame 37 0.628 0.538 2.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.950 strong 1.000 0 0 2012 2016
Entrez Id: 1634
Gene Symbol: DCN
DCN 		decorin 0.457 0.808 0.31
CUI: C1864738
Disease: Corneal Dystrophy, Congenital Stromal
Corneal Dystrophy, Congenital Stromal 		disease 0.950 strong 1.000 0 0 2005 2015
Entrez Id: 3868
Gene Symbol: KRT16
KRT16 		keratin 16 0.565 0.769 1.5E-14
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		disease 0.950 strong 1.000 0 0 1995 2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		disease 0.950 None 1.000 0 0 2009 2017
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		disease 0.950 None 1.000 0 0 1989 2012
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		disease 0.950 None 1.000 0 0 2013 2018
Entrez Id: 1352
Gene Symbol: COX10
COX10 		cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 0.623 0.654 8.4E-02
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.940 None 1.000 0 0 1999 2016
Entrez Id: 6341
Gene Symbol: SCO1
SCO1 		synthesis of cytochrome C oxidase 1 0.638 0.769 2.2E-04
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.940 None 1.000 0 0 2000 2013
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		Wnt family member 7A 0.531 0.692 3.6E-02
CUI: C1856728
Disease: Fuhrmann syndrome
Fuhrmann syndrome 		disease 0.940 None 1.000 0 0 2006 2017
Entrez Id: 841
Gene Symbol: CASP8
CASP8 		caspase 8 0.404 0.923 3.7E-06
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		disease 0.940 strong 1.000 0 0 2002 2019
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		disease 0.930 None 1.000 0 0 2004 2019
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		kinesin family member 1A 0.559 0.692 1.00
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 		disease 0.930 None 1.000 0 0 2011 2020
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		disease 0.930 None 1.000 0 0 2012 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		disease 0.920 None 1.000 0 0 1999 2013
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		disease 0.920 None 1.000 0 0 1989 2008
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		disease 0.910 None 1.000 0 0 2009 2018
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		disease 0.910 None 1.000 0 0 1989 2013
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1 		serpin family H member 1 0.545 0.769 2.8E-02
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		disease 0.910 strong 1.000 0 0 2010 2018
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		disease 0.900 strong 1.000 0 0 2002 2016
Entrez Id: 11155
Gene Symbol: LDB3
LDB3 		LIM domain binding 3 0.659 0.385 9.6E-06
CUI: C1832244
Disease: CARDIOMYOPATHY, DILATED, 1C (disorder)
CARDIOMYOPATHY, DILATED, 1C (disorder) 		disease 0.900 None 1.000 0 0 2003 2004
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10 		programmed cell death 10 0.631 0.692 0.96
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		disease 0.900 strong 1.000 0 0 2005 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		disease 0.900 strong 1.000 0 0 2001 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.900 None 1.000 0 0 1999 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.900 None 1.000 0 0 1998 2019
Entrez Id: 1536
Gene Symbol: CYBB
CYBB 		cytochrome b-245 beta chain 0.452 0.885 1.00
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group 0.900 limited 0.986 0 0 1987 2020