Source: CTD_human

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: 64127
Gene Symbol: NOD2
NOD2 		nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease 1.000 moderate 0.937 8 0 1998 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 1.000 definitive 0.986 7 0 1973 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		disease 1.000 None 0.984 6 0 1983 2020
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		disease 1.000 strong 0.917 6 0 1991 2019
Entrez Id: 4160
Gene Symbol: MC4R
MC4R 		melanocortin 4 receptor 0.535 0.692 9.2E-04
CUI: C0028754
Disease: Obesity
Obesity 		disease 1.000 None 0.961 6 0 1997 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 6 0 1994 2020
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 definitive 0.994 6 0 1960 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.973 6 0 1982 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 1.000 None 0.959 6 0 1990 2020
Entrez Id: 7274
Gene Symbol: TTPA
TTPA 		alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		disease 1.000 None 1.000 6 0 1985 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 1.000 definitive 0.994 5 0 1965 2019
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease 1.000 None 0.982 5 0 1953 2020
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		disease 1.000 strong 1.000 5 0 2003 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		disease 1.000 None 0.983 4 0 1994 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.985 4 0 1993 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0033300
Disease: Progeria
Progeria 		disease 1.000 None 0.967 4 0 2003 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 1.000 None 0.989 4 0 1999 2020
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 4 0 1993 2020
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		disease 1.000 None 1.000 4 0 1975 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 4 0 2002 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.987 4 0 2001 2020
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		ataxin 1 0.534 0.769 0.97
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease 1.000 None 0.983 4 0 1980 2020
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease 1.000 definitive 0.980 4 0 1994 2020
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA 		CCAAT enhancer binding protein alpha 0.496 0.692 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 1.000 definitive 0.985 3 0 1992 2020
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 1.000 None 1.000 3 0 2002 2019