Goldberg-Shprintzen syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Goldberg-Shprintzen syndrome
MONDO_0012280
KIFBP Causal
15883926 21850686 23427148 24072599 25846562 28277559 32939943 34421502 37903629
ClinGen, Open Targets —
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Goldberg-Shprintzen syndrome.
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Cortical development malformation 1 shared geneKIFBP Related via 1 shared gene including KIFBP. Microcephaly 1 shared geneKIFBP Related via 1 shared gene including KIFBP. Peripheral neuropathy 1 shared geneKIFBP Related via 1 shared gene including KIFBP. Intellectual developmental disorder 1 shared geneKIFBP Related via 1 shared gene including KIFBP. Color vision deficiency 1 shared geneKIFBP Related via 1 shared gene including KIFBP.