Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815

2008
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924

2007
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs1057518887
rs1057518887
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057520063
rs1057520063
GLI3
CA 0.700 CausalMutation CLINVAR

dbSNP: rs137853883
rs137853883
FKBP10
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1565191262
rs1565191262
FAM111B
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
G 0.700 CausalMutation CLINVAR

dbSNP: rs1569301036
rs1569301036
TAF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs749621890
rs749621890
EXTL3
T 0.700 GeneticVariation CLINVAR