| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | CausalMutation | disease | CLINVAR | Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario. | 25308559 | 2015 | ||||
|
0.720 | GeneticVariation | disease | BEFREE | Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. | 23402911 | 2013 | ||||
|
0.720 | GeneticVariation | disease | BEFREE | Recessive mutations in CUBN or AMN cause Imerslund-Gräsbeck Syndrome (IGS), while recessive mutations in GIF cause Intrinsic Factor Deficiency (IFD). | 22929189 | 2012 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. | 22929189 | 2012 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Vitamin B12 deficiency in a 15-year old boy due to mutations in the intrinsic factor gene, GIF. | 20408840 | 2010 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF. | 19036097 | 2009 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. | 15738392 | 2005 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. | 15738392 | 2005 | ||||
|
0.720 | GermlineCausalMutation | disease | ORPHANET | A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. | 14695536 | 2004 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. | 14576042 | 2004 | ||||
|
0.720 | Biomarker | disease | CTD_human |