rs587778792, SHH

N. diseases: 2
Disease: Holoprosencephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Holoprosencephaly
CUI: C0079541
Disease: Holoprosencephaly
0.710 GeneticVariation BEFREE Here, we analyze seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, and E188Q) that alter the N-terminal signaling domain of Shh protein, and show that two of these mutations (Q100H and E188Q), which are questionably linked to HPE, produce no detectable effects on function. 16282375 2005
Holoprosencephaly
CUI: C0079541
Disease: Holoprosencephaly
0.710 CausalMutation CLINVAR