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: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group 0.300 None 1.000 1 0 2020 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.310 None 1.000 1 0 2020 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		pumilio RNA binding family member 1 0.653 0.654 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		pumilio RNA binding family member 1 0.653 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		pumilio RNA binding family member 1 0.653 0.654 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 None 1.000 1 0 2020 2020
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		pumilio RNA binding family member 1 0.653 0.654 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5 		chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		disease 0.310 strong 1.000 0 0 2020 2020
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5 		chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		disease 0.310 strong 1.000 0 0 2020 2020
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5 		chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group 0.310 strong 1.000 0 0 2020 2020
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2 		nicotinamide nucleotide adenylyltransferase 2 0.670 0.500 0.99
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		disease 0.310 limited 1.000 2 0 2019 2019
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2 		nicotinamide nucleotide adenylyltransferase 2 0.670 0.500 0.99
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease 0.310 limited 1.000 2 0 2019 2019
Entrez Id: 745
Gene Symbol: MYRF
MYRF 		myelin regulatory factor 0.584 0.731 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease 0.320 strong 1.000 2 0 2019 2019
Entrez Id: 745
Gene Symbol: MYRF
MYRF 		myelin regulatory factor 0.584 0.731 1.00
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		phenotype 0.300 strong 1.000 2 0 2019 2019
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		heterogeneous nuclear ribonucleoprotein R 0.722 0.308 1.00
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 1024
Gene Symbol: CDK8
CDK8 		cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 strong 1.000 1 0 2019 2019