DLG4, discs large MAGUK scaffold protein 4, 1742

N. diseases: 91; N. variants: 54
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs369560930
rs369560930 		1.000 0.200 17 7221580 missense variant G/A;T snv 4.4E-05; 4.0E-06
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 1996 2016
dbSNP: rs545215807
rs545215807 		1.000 0.200 17 7221613 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 7 1996 2012
dbSNP: rs140629318
rs140629318 		1.000 0.200 17 7221966 missense variant G/A;C snv 2.0E-05; 1.2E-05
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 5 1996 2014
dbSNP: rs314253
rs314253 		17 7188331 downstream gene variant T/C snv 0.37
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2013 2018
dbSNP: rs314253
rs314253 		17 7188331 downstream gene variant T/C snv 0.37
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs398123091
rs398123091 		1.000 0.200 17 7221993 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2006 2014
dbSNP: rs786204536
rs786204536 		1.000 0.200 17 7222014 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 1999 2018
dbSNP: rs1432183079
rs1432183079 		1.000 0.200 17 7221981 missense variant G/A snv 4.0E-06
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 1996 1999
dbSNP: rs1555527745
rs1555527745 		1.000 0.200 17 7220678 splice donor variant T/G snv
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 1999 2012
dbSNP: rs387906249
rs387906249 		1.000 0.200 17 7220923 splice acceptor variant G/- delins
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 1995 2016
dbSNP: rs1057516714
rs1057516714 		1.000 0.200 17 7221970 frameshift variant GTCT/- delins
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 1999 1999
dbSNP: rs1443151475
rs1443151475 		1.000 0.200 17 7220161 frameshift variant C/- delins 2.2E-05 1.4E-05
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 1999 2015
dbSNP: rs387906251
rs387906251 		1.000 0.200 17 7220965 inframe deletion GAG/- delins 1.4E-05
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 1996 2012
dbSNP: rs771808680
rs771808680 		1.000 0.200 17 7220663 frameshift variant C/- delins 4.0E-06
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2015 2016
dbSNP: rs786204738
rs786204738 		1.000 0.200 17 7221014 stop gained C/T snv
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 1999 1999
dbSNP: rs1057516979
rs1057516979 		1.000 0.200 17 7220795 frameshift variant AA/- delins
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1452339268
rs1452339268 		1.000 0.200 17 7220648 frameshift variant CA/- delins
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1555527532
rs1555527532 		1.000 0.200 17 7220159 frameshift variant -/TGCCC delins
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1555527907
rs1555527907 		1.000 0.200 17 7220979 stop gained G/A snv
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1555528304
rs1555528304 		0.925 0.240 17 7222037 frameshift variant CT/- del
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1555528304
rs1555528304 		0.925 0.240 17 7222037 frameshift variant CT/- del
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs2242449
rs2242449 		1.000 0.080 17 7192188 non coding transcript exon variant C/A;G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs314253
rs314253 		17 7188331 downstream gene variant T/C snv 0.37
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs314253
rs314253 		17 7188331 downstream gene variant T/C snv 0.37
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs371407903
rs371407903 		1.000 0.200 17 7221663 stop gained C/G snv 4.0E-06 1.4E-05
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014