Source: CURATED

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: 4609
Gene Symbol: MYC
MYC 		MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease 1.000 None 0.977 0 3 1982 2020
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 limited 0.896 0 63 1996 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		disease 0.900 limited 1.000 0 1 1996 2018
Entrez Id: 3852
Gene Symbol: KRT5
KRT5 		keratin 5 0.512 0.731 0.64
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		disease 0.900 strong 0.985 0 4 1991 2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.900 strong 0.976 0 0 2004 2019
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease 0.900 limited 0.875 0 0 2002 2019
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4 		ELOVL fatty acid elongase 4 0.601 0.577 0.83
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		disease 0.900 None 0.929 0 3 1998 2019
Entrez Id: 6908
Gene Symbol: TBP
TBP 		TATA-box binding protein 0.552 0.846 1.5E-02
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		disease 0.900 None 1.000 0 0 2003 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease 0.900 None 1.000 0 0 1993 2019
Entrez Id: 841
Gene Symbol: CASP8
CASP8 		caspase 8 0.404 0.923 3.7E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.900 None 1.000 0 1 1998 2019
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		disease 0.900 None 0.983 0 17 1988 2019
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2 		G protein subunit alpha transducin 2 0.674 0.231 7.0E-06
CUI: C1841721
Disease: ACHROMATOPSIA 4
ACHROMATOPSIA 4 		disease 0.810 limited 1.000 0 13 2002 2013
Entrez Id: 343035
Gene Symbol: RD3
RD3 		retinal degeneration 3, GUCY2D regulator 0.700 0.308 2.6E-05
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		disease 0.810 None 1.000 0 5 1993 2013
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A 		FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C1419614
Disease: RETINITIS PIGMENTOSA 28
RETINITIS PIGMENTOSA 28 		disease 0.810 None 1.000 0 7 2010 2015
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		disease 0.800 limited 0.977 0 12 1980 2019
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		discs large MAGUK scaffold protein 3 0.544 0.615 1.00
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		disease 0.800 strong 1.000 0 5 2016 2016
Entrez Id: 1758
Gene Symbol: DMP1
DMP1 		dentin matrix acidic phosphoprotein 1 0.556 0.615 1.5E-07
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.800 None 1.000 0 0 2006 2020
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.800 limited 0.955 0 4 2009 2019
Entrez Id: 2322
Gene Symbol: FLT3
FLT3 		fms related receptor tyrosine kinase 3 0.462 0.654 0.61
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease 0.800 None 1.000 0 4 2004 2020
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1 		splicing factor 3b subunit 1 0.511 0.731 1.00
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.800 limited 0.971 0 0 2011 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		disease 0.800 None 1.000 0 22 1999 2017
Entrez Id: 28962
Gene Symbol: OSTM1
OSTM1 		osteoclastogenesis associated transmembrane protein 1 0.644 0.577 1.1E-02
CUI: C1968603
Disease: Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 5 		disease 0.800 strong 1.000 0 4 1975 2014
Entrez Id: 29851
Gene Symbol: ICOS
ICOS 		inducible T cell costimulator 0.502 0.731 3.1E-02
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		disease 0.800 None 1.000 0 0 2001 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.800 moderate 0.955 0 3 1989 2019
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		methylmalonyl-CoA mutase 0.534 0.731 1.7E-22
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		disease 0.800 limited 1.000 0 11 2003 2016