rs104894196, ALX4

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARIETAL FORAMINA 2
CUI: C1865044
Disease: PARIETAL FORAMINA 2
0.800 GeneticVariation UNIPROT Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991 2001
PARIETAL FORAMINA 2
CUI: C1865044
Disease: PARIETAL FORAMINA 2
0.800 GeneticVariation UNIPROT The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 11106354 2000
PARIETAL FORAMINA 2
CUI: C1865044
Disease: PARIETAL FORAMINA 2
0.800 CausalMutation CLINVAR