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: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		disease 0.300 moderate 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 1001
Gene Symbol: CDH3
CDH3 		cadherin 3 0.560 0.615 2.8E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 100144748
Gene Symbol: KLLN
KLLN 		killin, p53 regulated DNA replication inhibitor 0.578 0.654 5.1E-03
CUI: C3554517
Disease: COWDEN SYNDROME 4
COWDEN SYNDROME 4 		disease 0.500 limited 0 0
Entrez Id: 10082
Gene Symbol: GPC6
GPC6 		glypican 6 0.626 0.654 0.14
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.300 limited 0 0
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS 		TOP1 binding arginine/serine rich protein 0.659 0.538 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS 		TOP1 binding arginine/serine rich protein 0.659 0.538 1.00
CUI: C1835923
Disease: Retinitis Pigmentosa 31
Retinitis Pigmentosa 31 		disease 0.600 None 0 0
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS 		TOP1 binding arginine/serine rich protein 0.659 0.538 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.300 limited 0 0
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B 		cyclin dependent kinase inhibitor 1B 0.409 0.769 0.62
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland 		disease 0.300 strong 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0004048
Disease: Inspiration function
Inspiration function 		phenotype 0.300 strong 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group 0.300 limited 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 limited 0 0
Entrez Id: 10370
Gene Symbol: CITED2
CITED2 		Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 0.576 0.654 0.76
CUI: C3280783
Disease: VENTRICULAR SEPTAL DEFECT 2
VENTRICULAR SEPTAL DEFECT 2 		disease 0.300 None 0 0
Entrez Id: 10426
Gene Symbol: TUBGCP3
TUBGCP3 		tubulin gamma complex associated protein 3 0.780 0.231 0.46
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.300 None 0 0
Entrez Id: 10461
Gene Symbol: MERTK
MERTK 		MER proto-oncogene, tyrosine kinase 0.531 0.692 2.7E-11
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 10461
Gene Symbol: MERTK
MERTK 		MER proto-oncogene, tyrosine kinase 0.531 0.692 2.7E-11
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.300 strong 0 0
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5 		fibulin 5 0.546 0.692 1.00
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group 0.300 limited 0 0
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		calcium and integrin binding family member 2 0.545 0.808 1.4E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 10529
Gene Symbol: NEBL
NEBL 		nebulette 0.650 0.692 1.8E-36
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.300 None 0 0
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		disease 0.300 limited 0 0
Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8 		pre-mRNA processing factor 8 0.631 0.615 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 1063
Gene Symbol: CENPF
CENPF 		centromere protein F 0.601 0.654 1.9E-36
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 strong 0 0