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: 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: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 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: 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: 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: 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: 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 moderate 1.000 1 0 2019 2019