spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
PCYT1A Causal — ClinGen
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with spondylometaphyseal dysplasia-cone-rod dystrophy syndrome.
5 View disease cluster →
Generalized lipodystrophy 1 shared genePCYT1A Related via 1 shared gene including PCYT1A. Spondylometaphyseal dysplasia 1 shared genePCYT1A Related via 1 shared gene including PCYT1A. Lipodystrophy 1 shared genePCYT1A Related via 1 shared gene including PCYT1A. Leber congenital amaurosis 1 shared genePCYT1A Related via 1 shared gene including PCYT1A. Retinitis pigmentosa 1 shared genePCYT1A Related via 1 shared gene including PCYT1A.