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: 10661
Gene Symbol: KLF1
KLF1 		Kruppel like factor 1 0.621 0.462 3.6E-04
CUI: C1292231
Disease: In(Lu) phenotype (finding)
In(Lu) phenotype (finding) 		phenotype 0.400 moderate 0 0
Entrez Id: 10661
Gene Symbol: KLF1
KLF1 		Kruppel like factor 1 0.621 0.462 3.6E-04
CUI: C3150805
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 		phenotype 0.400 moderate 0 0
Entrez Id: 106783499
Gene Symbol: OPA8
OPA8 		optic atrophy 8 (autosomal dominant) 0.839 0.231
CUI: C4085249
Disease: OPTIC ATROPHY 8
OPTIC ATROPHY 8 		disease 0.300 None 0 0
Entrez Id: 10682
Gene Symbol: EBP
EBP 		EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C2610861
Disease: 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity 		phenotype 0.300 strong 0 0
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		disease 0.300 strong 0 0
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0449439
Disease: Carrier status
Carrier status 		phenotype 0.300 strong 0 0
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		disease 0.600 strong 0 0
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.300 None 0 0
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8 		serologically defined colon cancer antigen 8 0.619 0.577 1.2E-11
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 10877
Gene Symbol: CFHR4
CFHR4 		complement factor H related 4 0.839 0.346 2.4E-18
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 moderate 0 0
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3 		complement factor H related 3 0.663 0.462 1.7E-11
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 moderate 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 limited 0 0
Entrez Id: 10913
Gene Symbol: EDAR
EDAR 		ectodysplasin A receptor 0.623 0.423 1.3E-06
CUI: C2675460
Disease: HAIR MORPHOLOGY 1
HAIR MORPHOLOGY 1 		phenotype 0.300 strong 0 0
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.400 strong 0 0
Entrez Id: 11023
Gene Symbol: VAX1
VAX1 		ventral anterior homeobox 1 0.700 0.423 0.77
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 1105
Gene Symbol: CHD1
CHD1 		chromodomain helicase DNA binding protein 1 0.628 0.692 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.300 None 0 0
Entrez Id: 11113
Gene Symbol: CIT
CIT 		citron rho-interacting serine/threonine kinase 0.555 0.692 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.300 moderate 0 0
Entrez Id: 11117
Gene Symbol: EMILIN1
EMILIN1 		elastin microfibril interfacer 1 0.743 0.269 4.4E-03
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9 		solute carrier family 7 member 9 0.666 0.692 9.1E-10
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		disease 0.300 limited 0 0
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9 		solute carrier family 7 member 9 0.666 0.692 9.1E-10
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		disease 0.300 limited 0 0
Entrez Id: 11197
Gene Symbol: WIF1
WIF1 		WNT inhibitory factor 1 0.507 0.731 1.3E-09
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.300 limited 0 0
Entrez Id: 11216
Gene Symbol: AKAP10
AKAP10 		A-kinase anchoring protein 10 0.760 0.308 0.11
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		group 0.500 None 0 0
Entrez Id: 11216
Gene Symbol: AKAP10
AKAP10 		A-kinase anchoring protein 10 0.760 0.308 0.11
CUI: C1867013
Disease: Increased risk of sudden cardiac death
Increased risk of sudden cardiac death 		phenotype 0.300 None 0 0
Entrez Id: 11249
Gene Symbol: NXPH2
NXPH2 		neurexophilin 2 0.821 0.154 0.93
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		disease 0.300 None 0 0
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		intraflagellar transport 43 0.617 0.577 1.8E-11
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.300 None 0 0