Disease: Acrocallosal Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202195179
rs202195179
Entrez Id: 90381;374654
Gene Symbol: TICRR;KIF7
TICRR;KIF7
CUI: C0796147
Disease:
Acrocallosal Syndrome 		0.700 GeneticVariation UNIPROT Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. 26174511 2015
dbSNP: rs202195179
rs202195179
Entrez Id: 90381;374654
Gene Symbol: TICRR;KIF7
TICRR;KIF7
CUI: C0796147
Disease:
Acrocallosal Syndrome 		0.700 GeneticVariation UNIPROT Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. 23125460 2012
dbSNP: rs202195179
rs202195179
Entrez Id: 90381;374654
Gene Symbol: TICRR;KIF7
TICRR;KIF7
CUI: C0796147
Disease:
Acrocallosal Syndrome 		0.700 GeneticVariation UNIPROT KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 21552264 2011