Source: UNIPROT

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: 29072
Gene Symbol: SETD2
SETD2 		SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease 0.700 None 0.957 4 0 2003 2019
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		SET domain containing 5 0.560 0.731 1.00
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		disease 0.700 None 1.000 4 0 2014 2018
Entrez Id: 6651
Gene Symbol: SON
SON 		SON DNA binding protein 0.565 0.769 1.00
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		phenotype 0.710 None 1.000 4 0 2015 2019
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		disease 0.800 None 0.960 4 0 2002 2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		disease 1.000 strong 0.969 4 0 2004 2019
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		WD repeat domain 45 0.647 0.423 0.99
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		disease 0.800 strong 1.000 3 0 2012 2020
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C1853995
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 		disease 0.700 None 1.000 3 0 2011 2015
Entrez Id: 114803
Gene Symbol: MYSM1
MYSM1 		Myb like, SWIRM and MPN domains 1 0.700 0.462 4.3E-02
CUI: C4748257
Disease: BONE MARROW FAILURE SYNDROME 4
BONE MARROW FAILURE SYNDROME 4 		disease 0.600 moderate 1.000 3 0 2013 2017
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		crystallin beta B1 0.686 0.231 7.0E-04
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		disease 0.600 None 1.000 3 0 2002 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		disease 0.700 strong 1.000 3 0 1989 2017
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		disease 0.800 None 1.000 3 0 1992 2018
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		disease 1.000 definitive 1.000 3 0 1990 2019
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		nicastrin 0.666 0.462 1.00
CUI: C4551962
Disease: ACNE INVERSA, FAMILIAL, 1
ACNE INVERSA, FAMILIAL, 1 		disease 0.600 None 1.000 3 0 2010 2012
Entrez Id: 2710
Gene Symbol: GK
GK 		glycerol kinase 0.656 0.577 0.99
CUI: C0268418
Disease: Deficiency of glycerol kinase
Deficiency of glycerol kinase 		disease 0.800 None 1.000 3 0 1988 2009
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		EGF containing fibulin extracellular matrix protein 2 0.559 0.692 8.2E-03
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		disease 0.700 strong 1.000 3 0 1991 2016
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1 		inosine monophosphate dehydrogenase 1 0.623 0.462 5.8E-06
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		disease 0.720 None 1.000 3 0 2002 2008
Entrez Id: 3667
Gene Symbol: IRS1
IRS1 		insulin receptor substrate 1 0.488 0.769 2.4E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.900 None 0.939 3 0 1993 2019
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		agrin 0.626 0.538 5.5E-07
CUI: C3808739
Disease: MYASTHENIC SYNDROME, CONGENITAL, 8
MYASTHENIC SYNDROME, CONGENITAL, 8 		disease 0.800 None 1.000 3 0 2009 2014
Entrez Id: 3854
Gene Symbol: KRT6B
KRT6B 		keratin 6B 0.663 0.577 5.5E-10
CUI: C3714949
Disease: PACHYONYCHIA CONGENITA 4
PACHYONYCHIA CONGENITA 4 		disease 0.600 strong 1.000 3 0 1998 2011
Entrez Id: 4803
Gene Symbol: NGF
NGF 		nerve growth factor 0.391 0.885 0.82
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		disease 0.800 None 0.950 3 0 1992 2019
Entrez Id: 50964
Gene Symbol: SOST
SOST 		sclerostin 0.474 0.808 0.87
CUI: C4551483
Disease: SCLEROSTEOSIS 1
SCLEROSTEOSIS 1 		disease 0.800 strong 1.000 3 0 2001 2013
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		plectin 0.523 0.808 8.3E-12
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		disease 0.710 None 1.000 3 0 1996 2017
Entrez Id: 5447
Gene Symbol: POR
POR 		cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C3150099
Disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 		disease 0.700 strong 1.000 3 0 2002 2006
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10 		solute carrier family 30 member 10 0.578 0.654 0.98
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		disease 0.740 None 1.000 3 0 2012 2018
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		HNF1 homeobox A 0.478 0.846 0.96
CUI: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		disease 0.700 strong 1.000 3 0 1997 1999