Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
FOVEAL HYPOPLASIA 1	C3805604	PAX6	Causal Pathogenic evidence from ClinVar	2855731, 7550230, 8640214, 9931324, 17148041	ClinVar
FOVEAL HYPOPLASIA 1	C3805604	ELP4	Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations	-	-
FOVEAL HYPOPLASIA 2	C3807873	SLC38A8	Causal Pathogenic evidence from ClinVar	24045842, 24290379	ClinVar
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING	C4017387	SLC38A8	Causal Pathogenic evidence from ClinVar	-	ClinVar
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS	C4017386	SLC38A8	Causal Pathogenic evidence from ClinVar	-	ClinVar
Foveal Hypoplasia and Anterior Segment Dysgenesis	C1836603	SLC38A8	Causal Pathogenic evidence from ClinVar	-	ClinVar
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome	397618	SLC38A8	Causal Pathogenic evidence from ClinVar	-	ClinVar

Foveal hypoplasia