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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 1.000 None 0.961 6 0 1972 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 1.000 definitive 0.972 6 0 2003 2019
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
disease 1.000 definitive 0.968 6 0 1978 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
disease 1.000 None 0.988 6 0 1996 2019
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome
disease 1.000 definitive 1.000 6 0 1998 2020
Entrez Id: 846
Gene Symbol: CASR
CASR
calcium sensing receptor 0.410 0.846 4.7E-02
Hypocalciuric hypercalcemia, familial, type 1
disease 1.000 None 0.993 6 0 1976 2020
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
solute carrier family 19 member 2 0.636 0.692 4.3E-04
Thiamine responsive megaloblastic anemia syndrome
disease 1.000 None 1.000 5 0 1997 2019
Entrez Id: 10682
Gene Symbol: EBP
EBP
EBP cholestenol delta-isomerase 0.494 0.846 0.94
Chondrodysplasia punctata, X-linked dominant type
disease 1.000 strong 1.000 5 0 1983 2019
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
fibrillin 2 0.505 0.808 1.00
Congenital contractural arachnodactyly
disease 1.000 strong 0.979 5 0 1973 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease 1.000 None 1.000 5 0 1994 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
disease 1.000 None 0.983 5 0 1994 2019
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease
disease 1.000 None 1.000 5 0 1988 2019
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
disease 1.000 None 1.000 5 0 1996 2017
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
Greig cephalopolysyndactyly syndrome
disease 1.000 strong 0.917 5 0 1991 2019
Entrez Id: 383
Gene Symbol: ARG1
ARG1
arginase 1 0.476 0.846 3.6E-04
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
phenotype 1.000 definitive 1.000 5 0 1944 2020
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome
disease 1.000 None 0.984 5 0 1986 2020
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
paired box 2 0.495 0.731 0.67
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome
disease 1.000 strong 1.000 5 0 1995 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0003076
Disease: Aniridia
Aniridia
disease 1.000 None 0.984 5 0 1978 2020
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
disease 1.000 None 1.000 5 0 1962 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease 1.000 None 0.992 5 0 2001 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease 1.000 definitive 0.981 5 0 2004 2020
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 1.000 definitive 1.000 5 0 2006 2019
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia
disease 1.000 None 0.968 5 0 1962 2019
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
disease 1.000 strong 0.969 5 0 2004 2019
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
EPM2A glucan phosphatase, laforin 0.608 0.577 8.7E-06
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
disease 1.000 None 0.965 5 0 1998 2020