rs199476091, PTCH1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HOLOPROSENCEPHALY 7
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
0.700 GeneticVariation UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668 2006
HOLOPROSENCEPHALY 7
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
0.700 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318 2006
HOLOPROSENCEPHALY 7
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
0.700 GeneticVariation UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477 2002