Disease: Acrocallosal Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567057019
rs1567057019
Entrez Id: 90381;374654
Gene Symbol: TICRR;KIF7
TICRR;KIF7
CUI: C0796147
Disease:
Acrocallosal Syndrome 		G 0.700 GeneticVariation CLINVAR Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. 26648833 2015
dbSNP: rs1567057019
rs1567057019
Entrez Id: 90381;374654
Gene Symbol: TICRR;KIF7
TICRR;KIF7
CUI: C0796147
Disease:
Acrocallosal Syndrome 		G 0.700 GeneticVariation CLINVAR KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 21552264 2011
dbSNP: rs1567057019
rs1567057019
Entrez Id: 90381;374654
Gene Symbol: TICRR;KIF7
TICRR;KIF7
CUI: C0796147
Disease:
Acrocallosal Syndrome 		G 0.700 GeneticVariation CLINVAR Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164 2011
dbSNP: rs1567057019
rs1567057019
Entrez Id: 90381;374654
Gene Symbol: TICRR;KIF7
TICRR;KIF7
CUI: C0796147
Disease:
Acrocallosal Syndrome 		G 0.700 GeneticVariation CLINVAR Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling. 19666503 2009