Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.400 Biomarker GENOMICS_ENGLAND Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. 31139695

2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.400 Biomarker GENOMICS_ENGLAND Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. 30595371

2019
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.300 Biomarker GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024

2020
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.300 Biomarker GENOMICS_ENGLAND Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. 30929742

2019
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.300 Biomarker GENOMICS_ENGLAND Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. 29909962

2018
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.300 Biomarker GENOMICS_ENGLAND Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. 29909962

2018