AGFG1, ArfGAP with FG repeats 1, 3267

N. diseases: 100; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13400297
rs13400297
Entrez Id: 3267
Gene Symbol: AGFG1
AGFG1
CUI: C2076600
Disease:
Influenza due to Influenza A virus subtype H1N1 		0.700 GeneticVariation GWASCAT No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity. 26379185 2015
dbSNP: rs776720135
rs776720135
Entrez Id: 3267
Gene Symbol: AGFG1
AGFG1
CUI: C0042029
Disease:
Urinary tract infection 		0.010 GeneticVariation BEFREE Abbreviations: 3-PEHPC: 3-pyridinyl ethylidene hydroxyl phosphonocarboxylate; ATG: autophagy; ATG16L1: autophagy related 16 like 1; BECs: bladder epithelial cells; dpi: days post infection; hpi: hours post infection; IF: immunofluorescence; IL1B: interleukin 1 beta; IL6: interleukin 6; MAP1LC3B/LC3B: microtubule-associated protein 1 light chain 3 beta; MVB: multivesicular bodies; T300A: Thr300Ala; TNF: tumor necrosis factor; QIR(s): quiescent intracellular reservoir(s); siRNA: short interfering RNA; UPEC: uropathogenic Escherichia coli; UTI(s): urinary tract infection(s); TEM: transmission electron microscopy; WT: wild type. 30335568 2019
dbSNP: rs776720135
rs776720135
Entrez Id: 3267
Gene Symbol: AGFG1
AGFG1
CUI: C0262655
Disease:
Recurrent urinary tract infection 		0.010 GeneticVariation BEFREE Abbreviations: 3-PEHPC: 3-pyridinyl ethylidene hydroxyl phosphonocarboxylate; ATG: autophagy; ATG16L1: autophagy related 16 like 1; BECs: bladder epithelial cells; dpi: days post infection; hpi: hours post infection; IF: immunofluorescence; IL1B: interleukin 1 beta; IL6: interleukin 6; MAP1LC3B/LC3B: microtubule-associated protein 1 light chain 3 beta; MVB: multivesicular bodies; T300A: Thr300Ala; TNF: tumor necrosis factor; QIR(s): quiescent intracellular reservoir(s); siRNA: short interfering RNA; UPEC: uropathogenic Escherichia coli; UTI(s): urinary tract infection(s); TEM: transmission electron microscopy; WT: wild type. 30335568 2019
dbSNP: rs769617030
rs769617030
Entrez Id: 3267
Gene Symbol: AGFG1
AGFG1
CUI: C0949445
Disease:
Cervical Dystonia 		0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844 2017
dbSNP: rs769617030
rs769617030
Entrez Id: 3267
Gene Symbol: AGFG1
AGFG1
CUI: C2749929
Disease:
Musician's Dystonia 		0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844 2017
dbSNP: rs772527880
rs772527880
Entrez Id: 3267
Gene Symbol: AGFG1
AGFG1
CUI: C0085281
Disease:
Addictive Behavior 		0.010 GeneticVariation BEFREE The ANKK1 protein associated with addictions has nuclear and cytoplasmic localization and shows a differential response of Ala239Thr to apomorphine. 20845092 2011