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: 10682
Gene Symbol: EBP
EBP 		EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		disease 1.000 strong 1.000 0 0 1983 2019
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		cystatin B 0.530 0.692 6.6E-03
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		disease 1.000 None 0.984 0 0 1994 2019
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		folliculin 0.537 0.885 0.79
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		disease 1.000 definitive 0.968 0 0 2002 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		estrogen receptor 1 0.324 0.962 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.967 0 0 1983 2020
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease 1.000 definitive 0.977 0 0 1989 2019
Entrez Id: 25953
Gene Symbol: PNKD
PNKD 		PNKD metallo-beta-lactamase domain containing 0.615 0.615 4.1E-08
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		disease 1.000 None 0.923 0 0 1997 2018
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B 		VPS33B late endosome and lysosome associated 0.644 0.654 2.4E-16
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		disease 1.000 None 1.000 0 0 2004 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		disease 1.000 None 1.000 0 0 1991 2019
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease 1.000 None 0.984 0 0 1995 2020
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		disease 1.000 None 1.000 0 0 1977 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease 1.000 strong 0.961 0 0 1989 2020
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3 		integrin subunit beta 3 0.485 0.846 1.7E-03
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease 1.000 definitive 1.000 0 0 1982 2020
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease 1.000 strong 0.984 0 0 2001 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		disease 1.000 strong 0.989 0 0 1992 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 None 1.000 0 0 1994 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 1.000 definitive 0.983 0 0 1993 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 strong 0.957 0 0 1995 2015
Entrez Id: 4771
Gene Symbol: NF2
NF2 		neurofibromin 2 0.468 0.885 1.00
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease 1.000 definitive 0.987 0 0 1991 2020
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease 1.000 None 0.983 0 0 1993 2019
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease 1.000 definitive 0.972 0 0 2003 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		disease 1.000 strong 1.000 0 0 2013 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.985 0 0 2001 2020
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 1.000 definitive 0.984 0 0 1994 2020
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		disease 1.000 None 0.982 0 0 1995 2019
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4 		solute carrier family 39 member 4 0.628 0.692 3.1E-04
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		disease 1.000 None 0.957 0 0 2002 2019