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: 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 91 605 1989 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
disease 0.900 None 0.993 84 104 1995 2020
Entrez Id: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group 0.600 None 0.971 77 0 1979 2020
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 None 0.966 74 98 1970 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
disease 1.000 None 0.992 74 51 1983 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group 0.400 None 0.989 68 0 1974 2020
Entrez Id: 2056
Gene Symbol: EPO
EPO
erythropoietin 0.381 0.885 1.1E-02
CUI: C0002871
Disease: Anemia
Anemia
disease 0.500 None 0.977 64 0 1984 2020
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 63 14 1987 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 62 113 1983 2020
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.514 0.731 0.85
Charcot-Marie-Tooth disease, X-linked, 1
disease 1.000 None 1.000 61 82 1993 2019
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group 0.400 None 0.973 58 0 1989 2020
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: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
disease 0.800 None 0.976 54 53 1980 2020
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: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
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
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: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
disease 1.000 None 0.990 44 227 1996 2019
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
disease 1.000 None 0.978 44 142 1975 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 1.000 None 0.976 44 799 1977 2020
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome
disease 0.800 None 0.989 41 31 1984 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.800 None 0.970 40 0 1987 2020
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.600 None 0.972 40 0 1987 2020
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