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: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
disease 1.000 None 0.974 0 0 2000 2019
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.545 0.731 1.00
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome
disease 1.000 definitive 0.981 0 0 2001 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
Congenital bilateral aplasia of vas deferens
disease 1.000 strong 0.965 0 0 1992 2019
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
solute carrier family 7 member 9 0.666 0.692 9.1E-10
CUI: C0010691
Disease: Cystinuria
Cystinuria
disease 1.000 definitive 1.000 0 0 1999 2018
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
C1q and TNF related 5 0.663 0.346 0.84
LATE-ONSET RETINAL DEGENERATION (disorder)
disease 1.000 None 1.000 0 0 2003 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 None 0.967 0 0 1983 2020
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY
disease 1.000 limited 0.947 0 0 1999 2018
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 0 0 1991 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype 1.000 limited 0.995 0 0 1997 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease 1.000 None 0.978 0 0 1997 2020
Entrez Id: 2645
Gene Symbol: GCK
GCK
glucokinase 0.523 0.808 0.63
Diabetes mellitus autosomal dominant type II (disorder)
disease 1.000 strong 1.000 0 0 1992 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
disease 1.000 strong 1.000 0 0 1998 2018
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
cytochrome P450 family 4 subfamily V member 2 0.670 0.577 2.2E-10
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
disease 1.000 None 0.976 0 0 2004 2019
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
Amaurosis congenita of Leber, type 1
disease 1.000 None 0.984 0 0 1995 2020
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease 1.000 limited 0.987 0 0 1993 2020
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 None 0.966 0 0 1970 2019
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease 1.000 limited 0.982 0 0 1992 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 None 0.968 0 0 2005 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group 1.000 definitive 0.951 0 0 1995 2020
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
melanocortin 4 receptor 0.535 0.692 9.2E-04
CUI: C0028754
Disease: Obesity
Obesity
disease 1.000 None 0.961 0 0 1997 2020
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 1.000 None 1.000 0 0 1992 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
Charcot-Marie-Tooth Disease, Type Ib
disease 1.000 None 1.000 0 0 1992 2019
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
serpin family C member 1 0.507 0.769 1.00
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
disease 1.000 strong 0.987 0 0 1984 2019
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
myosin heavy chain 9 0.505 0.808 1.00
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
disease 1.000 definitive 0.984 0 0 1998 2019
Entrez Id: 4942
Gene Symbol: OAT
OAT
ornithine aminotransferase 0.593 0.731 7.7E-07
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy
disease 1.000 definitive 0.962 0 0 1981 2019