Source: LHGDN

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: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.900 None 0.981 81 0 1987 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease 1.000 None 0.979 78 0 1989 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.700 None 0.965 72 0 1992 2020
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease 0.500 None 0.983 71 0 2002 2020
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		synuclein alpha 0.427 0.885 0.88
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease 0.700 None 0.983 64 0 1997 2020
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.700 None 0.946 61 0 1991 2020
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 60 0 1998 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.800 strong 0.985 60 0 1993 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease 0.600 None 0.950 58 0 1990 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0025202
Disease: melanoma
melanoma 		disease 1.000 None 0.983 55 0 1986 2020
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.800 strong 0.950 54 0 1994 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease 0.700 None 0.994 52 0 1992 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.900 None 0.947 51 0 1994 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.700 None 0.971 49 0 1990 2020
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 48 0 1989 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 1.000 definitive 0.977 43 0 1975 2020
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		disease 0.600 moderate 0.979 40 0 1987 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease 1.000 None 0.975 39 0 2005 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease 0.700 None 0.990 39 0 2003 2020
Entrez Id: 3075
Gene Symbol: CFH
CFH 		complement factor H 0.441 0.885 0.86
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.500 None 0.961 38 0 2005 2019
Entrez Id: 3084
Gene Symbol: NRG1
NRG1 		neuregulin 1 0.464 0.885 1.00
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.500 None 0.948 38 0 2002 2020
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease 0.700 None 0.960 36 0 1994 2020
Entrez Id: 2322
Gene Symbol: FLT3
FLT3 		fms related receptor tyrosine kinase 3 0.462 0.654 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 1.000 None 0.985 36 0 1992 2020
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.700 None 0.990 35 0 1988 2020
Entrez Id: 1312
Gene Symbol: COMT
COMT 		catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.500 None 0.887 32 0 1984 2020