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: 342618
Gene Symbol: SLFN14
SLFN14 		schlafen family member 14 0.931 3.5E-09
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		disease 0.700 None 1.000 2 0 2015 2016
Entrez Id: 148103
Gene Symbol: ZNF599
ZNF599 		zinc finger protein 599 1.000 2.1E-07
CUI: C4311048
Disease: CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL
CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL 		disease 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14 		schlafen family member 14 0.931 3.5E-09
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 440073
Gene Symbol: IQSEC3
IQSEC3 		IQ motif and Sec7 domain ArfGEF 3 3.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 None 1.000 1 0 2019 2019
Entrez Id: 55999
Gene Symbol: NXF4
NXF4 		nuclear RNA export factor 4 pseudogene
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 729041
Gene Symbol: FAAHP1
FAAHP1 		fatty acid amide hydrolase pseudogene 1
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		phenotype 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 79090
Gene Symbol: TRAPPC6A
TRAPPC6A 		trafficking protein particle complex 6A 0.931 5.1E-08
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.310 limited 1.000 1 0 2018 2018
Entrez Id: 79090
Gene Symbol: TRAPPC6A
TRAPPC6A 		trafficking protein particle complex 6A 0.931 5.1E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 limited 1.000 1 0 2018 2018
Entrez Id: 79649
Gene Symbol: MAP7D3
MAP7D3 		MAP7 domain containing 3 4.6E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 limited 1.000 1 0 1989 1989
Entrez Id: 79883
Gene Symbol: PODNL1
PODNL1 		podocan like 1 4.4E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 85349
Gene Symbol: KRT87P
KRT87P 		keratin 87 pseudogene
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		phenotype 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 9330
Gene Symbol: GTF3C3
GTF3C3 		general transcription factor IIIC subunit 3 1.000 7.0E-07
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 9330
Gene Symbol: GTF3C3
GTF3C3 		general transcription factor IIIC subunit 3 1.000 7.0E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 9330
Gene Symbol: GTF3C3
GTF3C3 		general transcription factor IIIC subunit 3 1.000 7.0E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 9704
Gene Symbol: DHX34
DHX34 		DExH-box helicase 34 1.000 6.6E-13
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 388531
Gene Symbol: RGS9BP
RGS9BP 		regulator of G protein signaling 9 binding protein 0.931 2.3E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 388531
Gene Symbol: RGS9BP
RGS9BP 		regulator of G protein signaling 9 binding protein 0.931 2.3E-03
CUI: C1842073
Disease: Prolonged Electroretinal Response Suppression
Prolonged Electroretinal Response Suppression 		phenotype 0.700 limited 1.000 0 0 2004 2004
Entrez Id: 390168
Gene Symbol: OR5M1
OR5M1 		olfactory receptor family 5 subfamily M member 1 1.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 limited 0 0
Entrez Id: 4725
Gene Symbol: NDUFS5
NDUFS5 		NADH:ubiquinone oxidoreductase subunit S5 2.6E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group 0.300 limited 0 0
Entrez Id: 790955
Gene Symbol: UQCC3
UQCC3 		ubiquinol-cytochrome c reductase complex assembly factor 3 0.839 0.038 3.2E-02
CUI: C4015253
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 		disease 0.600 moderate 1.000 2 0 2014 2017
Entrez Id: 100507012
Gene Symbol: BMPR1B-DT
BMPR1B-DT 		BMPR1B divergent transcript 1.000 0.038
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease 0.300 None 1.000 1 0 2005 2005
Entrez Id: 22932
Gene Symbol: POMZP3
POMZP3 		POM121 and ZP3 fusion 1.000 0.038 5.3E-04
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 255520
Gene Symbol: ELMOD2
ELMOD2 		ELMO domain containing 2 0.890 0.038 0.42
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group 0.300 limited 1.000 1 0 2006 2006
Entrez Id: 347273
Gene Symbol: CAVIN4
CAVIN4 		caveolae associated protein 4 0.890 0.038 5.1E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.310 None 1.000 1 0 2011 2019
Entrez Id: 349075
Gene Symbol: ZNF713
ZNF713 		zinc finger protein 713 0.931 0.038 4.3E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.300 limited 1.000 1 0 2014 2014