rs28939693, TGIF1

N. diseases: 1
Disease: HOLOPROSENCEPHALY 4 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HOLOPROSENCEPHALY 4 (disorder)
CUI: C1840528
Disease: HOLOPROSENCEPHALY 4 (disorder)
0.700 GeneticVariation UNIPROT Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 15221788 2004
HOLOPROSENCEPHALY 4 (disorder)
CUI: C1840528
Disease: HOLOPROSENCEPHALY 4 (disorder)
0.700 GeneticVariation UNIPROT Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. 10835638 2000