Source: ALL

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: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		disease 0.700 definitive 1.000 407 2632 1988 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		disease 0.700 definitive 1.000 465 2258 1976 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.900 strong 0.982 955 1292 1964 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease 0.800 strong 0.993 850 1161 1990 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.130 None 1.000 704 1021 1996 2019
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 0.986 518 1000 1973 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease 0.800 strong 0.986 1038 879 1990 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 0.976 575 803 1977 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.150 None 1.000 749 705 1975 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 0.982 623 680 1953 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 2327 632 1989 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 0.977 664 600 1975 2020
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 233 561 1989 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.900 None 0.977 652 519 1975 2020
Entrez Id: 54986
Gene Symbol: ULK4
ULK4 		unc-51 like kinase 4 0.722 0.385 4.4E-38
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease 0.400 None 1.000 6 506 2011 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 1.000 definitive 0.983 600 464 1993 2020
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		disease 0.900 strong 1.000 64 450 1991 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		phenotype 0.100 None 1.000 2 413 1992 1992
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 85 390 1980 2019
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 75 390 2000 2018
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		disease 0.100 None 1.000 45 390 2001 2015
Entrez Id: 5053
Gene Symbol: PAH
PAH 		phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease 0.800 strong 0.996 488 383 1975 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 158 361 1973 2019
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9 		solute carrier family 2 member 9 0.619 0.731 6.9E-10
CUI: C0018099
Disease: Gout
Gout 		disease 0.400 None 1.000 13 352 2007 2019
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9 		solute carrier family 2 member 9 0.619 0.731 6.9E-10
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		disease 0.120 None 1.000 15 351 2007 2019