Source: INFERRED

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
cystic fibrosis transmembrane conductance regulator 0.453 0.793 1.1E-57
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 0.948 519 0 1989 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 1.000 definitive 0.919 245 0 1989 2018
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 0.944 222 0 1978 2018
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.547 0.621 5.4E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 0.976 198 0 1983 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.607 0.655 1.9E-17
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 1.000 definitive 0.956 173 0 1965 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.424 0.759 5.1E-05
Hereditary Nonpolyposis Colorectal Cancer
disease 1.000 definitive 0.950 165 0 1992 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.464 0.586 5.5E-02
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease 1.000 0.923 162 0 1962 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.469 0.690 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.957 149 0 1973 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.554 0.759 1.4E-21
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
disease 1.000 0.983 148 0 1993 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.527 0.552 0.88
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease 1.000 strong 0.974 139 0 1996 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.954 129 0 1966 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 1.000 definitive 0.951 128 0 1988 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.957 108 0 2001 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.588 0.621 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 1.000 definitive 0.978 106 0 1967 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease 1.000 0.913 104 0 1997 2018
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.696 0.379 2.0E-12
Medium-chain acyl-coenzyme A dehydrogenase deficiency
disease 1.000 1.000 91 0 1984 2017
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 0.969 90 0 1982 2018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV, pyrin innate immunity regulator 0.494 0.724 1.0E-14
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
disease 1.000 0.954 86 0 1993 2018
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.609 0.483 7.0E-19
Limb-girdle muscular dystrophy type 2A
disease 1.000 0.966 80 0 1993 2018
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.527 0.759 6.7E-12
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
disease 1.000 0.977 76 0 1993 2018
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.604 0.690 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 1.000 definitive 0.933 76 0 1982 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.521 0.724 5.6E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease 1.000 0.909 74 0 1983 2016
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.463 0.724 1.00
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
disease 1.000 moderate 0.945 74 0 1980 2018
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.557 0.621 1.6E-17
Congenital disorder of glycosylation type 1A
disease 1.000 1.000 68 0 1993 2018
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.510 0.759 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
disease 1.000 1.000 67 0 1957 2017