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: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.410 strong 1.000 1 0 2012 2019
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 strong 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		group 0.300 strong 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 None 1.000 1 0 2012 2012