SHTN1, shootin 1, 57698

N. diseases: 10; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.100 GeneticVariation phenotype GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASCAT Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology. 30067744 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 GeneticVariation disease GWASCAT Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology. 30067744 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. 25775280 2015
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. 25775280 2015
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. 20023658 2010
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASDB A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 20436469 2010
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. 20023658 2010
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation disease BEFREE FGFR fusions retaining the kinase domain were identified in 0.2% of NSCLC cases; they included 37 fibroblast growth factor receptor gene 3 (FGFR3)-transforming acidic coiled-coil containing protein 3 gene (TACC3) fusion-positive cases, two fibroblast growth factor receptor 2 (FGFR2)-shootin 1 gene (KIAA1598 [also known as SHTN1]) fusion-positive cases, one BCL2 associated athanogene 4 gene (BAG4)-fibroblast growth factor receptor 1 gene (FGFR1) fusion-positive case, and 12 novel FGFR1, FGFR2, FGFR3, and fibroblast growth factor receptor 4 gene (FGFR4) fusion-positive cases. 30267839 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Furthermore, loss of shootin1 causes abnormal positioning of the interneurons and dysgenesis of the olfactory bulb. 30332643 2018
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 Biomarker disease BEFREE After correcting for multiple testing, we observed significant associations between fetal single-nucleotide polymorphisms (SNPs) at IRF6, PAX7, 8q21.3, 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP). 28662356 2017