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: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.710 definitive 1.000 70 151 1994 2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		disease 1.000 None 1.000 61 82 1993 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		disease 0.700 strong 1.000 58 145 1961 2017
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		disease 0.360 None 1.000 58 0 1989 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.600 strong 1.000 55 132 1993 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease 0.910 None 1.000 52 234 1995 2018
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		disease 0.300 None 1.000 51 0 2000 2014
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		disease 0.800 definitive 1.000 51 113 1959 2019
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		disease 1.000 definitive 1.000 46 98 1953 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		disease 0.700 strong 1.000 46 97 1991 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		disease 0.800 None 1.000 46 390 2000 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		disease 1.000 None 1.000 46 100 1991 2019
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		disease 0.930 None 1.000 44 33 2004 2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease 1.000 definitive 1.000 43 390 1980 2019
Entrez Id: 5009
Gene Symbol: OTC
OTC 		ornithine carbamoyltransferase 0.565 0.846 0.87
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease 1.000 definitive 1.000 42 138 1976 2018
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease 0.300 None 1.000 40 0 2000 2015
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: 4693
Gene Symbol: NDP
NDP 		norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0266526
Disease: Norrie disease
Norrie disease 		disease 1.000 definitive 1.000 39 23 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: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		disease 1.000 definitive 1.000 38 47 1989 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		disease 0.900 definitive 1.000 37 143 1990 2019
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		myocilin 0.595 0.500 7.6E-12
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		disease 0.720 strong 1.000 36 37 1996 2015
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