Source: GENOMICS_ENGLAND

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: 190
Gene Symbol: NR0B1
NR0B1
nuclear receptor subfamily 0 group B member 1 0.512 0.621 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 1.000 strong 0.986 7 0 1982 2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.520 0.724 1.00
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
disease 1.000 strong 1.000 6 0 2003 2018
Entrez Id: 8518
Gene Symbol: ELP1
ELP1
elongator complex protein 1 0.633 0.690
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
disease 1.000 strong 1.000 5 0 1993 2018
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
activin A receptor like type 1 0.570 0.621 8.2E-04
Hereditary hemorrhagic telangiectasia
disease 1.000 strong 1.000 3 0 1996 2017
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.477 0.655 1.00
Hereditary hemorrhagic telangiectasia
disease 1.000 strong 0.985 3 0 1989 2017
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 1 0 1996 2018
Entrez Id: 7068
Gene Symbol: THRB
THRB
thyroid hormone receptor beta 0.584 0.690 1.00
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome
disease 1.000 strong 0.989 1 0 1989 2017
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.535 0.793 0.23
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 1.000 strong 0.992 0 0 1988 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 0 0 1988 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.575 0.414 1.00
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
disease 1.000 definitive 0.969 0 0 1990 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C1261473
Disease: Sarcoma
Sarcoma
group 1.000 strong 0.950 0 0 1987 2018
Entrez Id: 10117
Gene Symbol: ENAM
ENAM
enamelin 0.707 0.241 2.2E-12
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.900 strong 1.000 16 0 1997 2017
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.514 0.793 1.9E-20
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.900 strong 1.000 6 0 1991 2018
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
thyroid stimulating hormone receptor 0.510 0.690 5.2E-15
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.900 strong 0.935 6 0 1992 2018
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
dual oxidase 2 0.598 0.690 2.6E-56
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.900 strong 1.000 5 0 2002 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.475 0.828 9.4E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease 0.900 strong 0.958 2 0 1964 2018
Entrez Id: 324
Gene Symbol: APC
APC
APC, WNT signaling pathway regulator 0.397 0.828 1.00
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease 0.900 strong 0.942 0 0 1990 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1, DNA repair associated 0.410 0.862 1.8E-28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 strong 0.942 0 0 1987 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 strong 0.952 0 0 1989 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.472 0.724 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.900 strong 0.975 0 0 1975 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.900 strong 0.938 0 0 1993 2016
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
synuclein alpha 0.513 0.793 0.90
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease 0.900 strong 0.973 0 0 1997 2018
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
troponin T2, cardiac type 0.611 0.241 2.6E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.900 strong 1.000 0 0 2000 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.900 strong 0.966 0 0 1983 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.534 0.655 6.4E-84
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.900 strong 1.000 0 0 1995 2017