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: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease 1.000 None 0.982 7 0 1953 2020
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3 		forkhead box P3 0.368 0.846 0.99
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		disease 1.000 None 0.971 7 0 1991 2019
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		disease 0.700 None 1.000 7 0 2009 2018
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		disease 0.600 None 1.000 7 0 1997 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease 0.800 definitive 0.978 7 0 1995 2020
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C3151519
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 		disease 0.600 None 1.000 7 0 2001 2016
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		disease 0.700 None 1.000 7 0 2008 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		disease 0.700 None 1.000 7 0 2008 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.987 7 0 2001 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		disease 0.700 None 1.000 7 0 2001 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		ryanodine receptor 2 0.539 0.615 1.00
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		disease 1.000 None 0.995 7 0 2001 2020
Entrez Id: 7015
Gene Symbol: TERT
TERT 		telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		disease 0.600 None 1.000 7 0 2005 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		TSC complex subunit 1 0.440 0.808 1.00
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		disease 0.690 definitive 1.000 7 0 1996 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		disease 0.800 None 1.000 7 0 2006 2018
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12 		chromosome 19 open reading frame 12 0.641 0.615 0.34
CUI: C3280371
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		disease 0.730 None 1.000 7 0 2010 2020
Entrez Id: 867
Gene Symbol: CBL
CBL 		Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		disease 0.720 None 1.000 7 0 2008 2017
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2 		eukaryotic translation initiation factor 2B subunit beta 0.647 0.538 2.1E-10
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		disease 0.800 None 0.952 7 0 2001 2020
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		disease 0.950 None 1.000 7 0 1977 2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		disease 0.740 None 1.000 7 0 1977 2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		disease 0.710 None 1.000 7 0 1977 2015
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		disease 0.600 None 1.000 6 0 2004 2016
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		disease 0.700 strong 1.000 6 0 2002 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		disease 0.710 None 1.000 6 0 2006 2017
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7 		beta-1,4-galactosyltransferase 7 0.628 0.654 1.1E-04
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		disease 0.730 None 1.000 6 0 1987 2017
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease 1.000 definitive 1.000 6 0 1980 2019