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: 2064
Gene Symbol: ERBB2
ERBB2 		erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.975 40 13 1987 2020
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease 0.370 None 1.000 40 0 1988 2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		disease 1.000 None 1.000 39 51 1992 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		disease 0.890 None 1.000 38 61 1986 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 37 677 1953 2020
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		disease 1.000 None 0.994 37 28 1998 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 1.000 None 0.961 36 98 1972 2019
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease 0.400 None 0.981 35 0 1991 2020
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease 0.400 None 0.993 35 0 1988 2019
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		disease 0.400 None 0.986 35 0 1991 2019
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		disease 0.300 None 1.000 35 0 1991 2018
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		disease 0.300 None 1.000 35 0 1991 2018
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease 0.500 None 0.984 35 1 1991 2020
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		disease 0.950 None 0.975 33 54 1988 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group 0.600 None 0.974 33 0 1991 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease 0.700 None 0.974 33 1 1990 2020
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease 0.400 None 0.978 33 0 1986 2019
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		disease 0.800 None 0.989 32 259 1995 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 1.000 None 1.000 32 101 1993 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		disease 0.730 None 1.000 32 58 2000 2012
Entrez Id: 846
Gene Symbol: CASR
CASR 		calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease 1.000 None 0.993 32 42 1976 2020
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease 1.000 None 1.000 31 118 1982 2019
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.400 None 1.000 31 0 1967 2018
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		disease 1.000 None 0.972 30 90 1976 2020
Entrez Id: 5498
Gene Symbol: PPOX
PPOX 		protoporphyrinogen oxidase 0.678 0.500 2.8E-02
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		disease 0.900 None 1.000 30 21 1981 2019