ANK1, ankyrin 1, 286

N. diseases: 166; N. variants: 49
Disease: SPHEROCYTOSIS, TYPE 1 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 Biomarker disease MGD A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis. 21193012 2011
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 Biomarker disease MGD Novel roles for erythroid Ankyrin-1 revealed through an ENU-induced null mouse mutant. 19179303 2009
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 CausalMutation disease CLINVAR A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. 17327413 2007
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 CausalMutation disease CLINVAR Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. 12899723 2003
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 GeneticVariation disease BEFREE One of the three loci for congenital spherocytosis was assigned to chromosome 8p (located between 8p11.1 and 8p21) and mutations in or loss of the ankyrin-1 gene (ANK1) were identified. 11920837 2002
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 GeneticVariation disease UNIPROT The screening of mutations in the ankyrin-1 (ANK1) gene of 28 Brazilian HS patients showed two new missense mutations (His276Arg and Ile1054Thr) and one novel promoter mutation (-153 G-->A). 11102985 2000
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 CausalMutation disease CLINVAR Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. 9590147 1998
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 Biomarker disease GENOMICS_ENGLAND Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. 9590147 1998
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 Biomarker disease GENOMICS_ENGLAND Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. 8640229 1996
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 GeneticVariation disease UNIPROT Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. 8640229 1996
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 Biomarker disease MGD Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. 1716634 1991
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 Biomarker disease MGD Studies on the pathogenesis of pigment gallstones in hemolytic anemia: description and characteristics of a mouse model. 7410545 1980
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 Biomarker disease CTD_human
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.910 GeneticVariation disease CLINVAR