Source: LHGDN

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 78 0 1989 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 1.000 0.972 55 0 1986 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 43 0 1966 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.430 0.690 0.47
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease 1.000 0.954 39 0 2005 2018
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
fms related tyrosine kinase 3 0.503 0.517 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 0.979 36 0 1992 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene receptor tyrosine kinase 0.394 0.759 0.99
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group 1.000 0.940 30 0 1998 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 23 0 1983 2018
Entrez Id: 2157
Gene Symbol: F8
F8
coagulation factor VIII 0.586 0.655 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
disease 1.000 0.959 23 0 1980 2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.474 0.897 7.2E-04
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
disease 1.000 0.946 23 0 1988 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 23 0 1996 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.430 0.690 0.47
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 0.945 22 0 2005 2018
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 21 0 1982 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 20 0 1978 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 20 0 1973 2018
Entrez Id: 7454
Gene Symbol: WAS
WAS
Wiskott-Aldrich syndrome 0.586 0.690 1.00
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
disease 1.000 0.978 20 0 1980 2018
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 0.940 19 0 1970 2018
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.590 0.552 4.8E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease 1.000 0.906 18 0 2000 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.463 0.690 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.985 18 0 1994 2018
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 17 0 1980 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 17 0 2001 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
fragile X mental retardation 1 0.492 0.690 0.69
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease 1.000 0.979 16 0 1991 2018
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.545 0.655 1.8E-38
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome
disease 1.000 0.988 16 0 1992 2018
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.467 0.655 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 1.000 definitive 0.969 15 0 1949 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 14 0 1988 2018
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch 3 0.469 0.690 0.87
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
disease 1.000 0.978 14 0 1993 2018