Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 18177472

2008

Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND A new mutation of the fukutin gene in a non-Japanese patient. 12601708

2003

Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). 10545611

1999

Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. 9690476

1998