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: 1024
Gene Symbol: CDK8
CDK8 		cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype 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: C0557874
Disease: Global developmental delay
Global developmental delay 		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: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 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: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		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: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 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: C4025846
Disease: Abnormality of vision
Abnormality of vision 		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: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 10654
Gene Symbol: PMVK
PMVK 		phosphomevalonate kinase 0.769 0.308 2.7E-05
CUI: C0302319
Disease: Porokeratosis, Linear
Porokeratosis, Linear 		disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 1107
Gene Symbol: CHD3
CHD3 		chromodomain helicase DNA binding protein 3 0.670 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 1136
Gene Symbol: CHRNA3
CHRNA3 		cholinergic receptor nicotinic alpha 3 subunit 0.588 0.692 1.4E-07
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.310 strong 1.000 1 0 2019 2019
Entrez Id: 1136
Gene Symbol: CHRNA3
CHRNA3 		cholinergic receptor nicotinic alpha 3 subunit 0.588 0.692 1.4E-07
CUI: C1968949
Disease: Cakut
Cakut 		disease 0.310 strong 1.000 1 0 2019 2019
Entrez Id: 116931
Gene Symbol: MED12L
MED12L 		mediator complex subunit 12L 0.839 0.269 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 moderate 1.000 1 0 2019 2019