Holoprosencephaly Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (Human Disease Ontology, DOID_4621)
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Genes

15 genes involed in the disease Holoprosencephaly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
NODAL nodal growth differentiation factor 5.0
FOXH1 forkhead box H1 5.0
DISP1 dispatched homolog 1 (Drosophila) 5.0
FGF8 fibroblast growth factor 8 (androgen-induced) 5.0
PTCH1 patched 1 4.0
ZIC2 Zic family member 2 4.0
GLI2 GLI family zinc finger 2 4.0
CNOT1 CCR4-NOT transcription complex, subunit 1 4.0
SIX3 SIX homeobox 3 4.0
PLCH1 phospholipase C, eta 1 4.0
FGFR1 fibroblast growth factor receptor 1 4.0
SHH sonic hedgehog 4.0
STAG2 stromal antigen 2 4.0
CDON cell adhesion associated, oncogene regulated 4.0
TGIF1 TGFB-induced factor homeobox 1 4.0