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: 540
Gene Symbol: ATP7B
ATP7B 		ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease 1.000 definitive 0.980 136 318 1983 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 91 605 1989 2020
Entrez Id: 2157
Gene Symbol: F8
F8 		coagulation factor VIII 0.542 0.769 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease 1.000 definitive 0.983 91 263 1977 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: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease 0.800 strong 0.977 61 558 1975 2020
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 60 991 1973 2020
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: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		disease 1.000 definitive 0.992 57 191 1967 2020
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		disease 0.800 None 0.976 54 53 1980 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 50 335 1975 2020
Entrez Id: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 0.885 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 1.000 definitive 0.979 49 91 1976 2020
Entrez Id: 3145
Gene Symbol: HMBS
HMBS 		hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease 1.000 strong 0.983 45 55 1974 2020
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		menin 1 0.444 0.808 1.00
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		disease 0.900 strong 0.959 44 135 1989 2020
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: 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.975 40 13 1987 2020
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease 1.000 definitive 0.985 37 6 1991 2020
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