ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency ×
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: rs77931234
rs77931234 		0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.900 1.000 58 1990 2020
dbSNP: rs121434278
rs121434278 		0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 21 1990 2015
dbSNP: rs121434280
rs121434280 		1.000 0.080 1 75732724 missense variant T/C snv 5.0E-04 7.1E-04
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 33 1990 2016
dbSNP: rs121434274
rs121434274 		1.000 0.080 1 75749509 missense variant G/A snv 2.1E-04 1.3E-04
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 26 1990 2015
dbSNP: rs200724875
rs200724875 		1.000 0.080 1 75745823 missense variant G/A;T snv 1.6E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 25 1990 2018
dbSNP: rs121434281
rs121434281 		1.000 0.080 1 75749444 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1990 2013
dbSNP: rs747268471
rs747268471 		1.000 0.080 1 75750529 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1990 2013
dbSNP: rs786204631
rs786204631 		1.000 0.080 1 75761153 missense variant T/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 19 1990 2012
dbSNP: rs875989859
rs875989859 		1.000 0.080 1 75733588 missense variant G/A snv 8.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 18 1990 2010
dbSNP: rs121434283
rs121434283 		1.000 0.080 1 75733603 missense variant C/T snv 1.2E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 17 1990 2007
dbSNP: rs121434275
rs121434275 		1.000 0.080 1 75761300 missense variant T/C snv 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1990 2001
dbSNP: rs121434276
rs121434276 		1.000 0.080 1 75749440 missense variant T/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1990 2001
dbSNP: rs121434277
rs121434277 		1.000 0.080 1 75734850 missense variant G/A;T snv 8.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1990 2001
dbSNP: rs121434279
rs121434279 		1.000 0.080 1 75740088 missense variant A/G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1990 2001
dbSNP: rs121434282
rs121434282 		1.000 0.080 1 75749552 missense variant G/C snv 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1990 2001
dbSNP: rs398123075
rs398123075 		1.000 0.080 1 75732889 missense variant G/A;C;T snv 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 2004 2010
dbSNP: rs1215335509
rs1215335509 		1.000 0.080 1 75750514 stop gained G/A;T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2001 2001
dbSNP: rs398123072
rs398123072 		1.000 0.080 1 75732682 missense variant C/G;T snv 3.2E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1993 2016
dbSNP: rs786204566
rs786204566 		1.000 0.080 1 75732879 frameshift variant -/T delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 2001 2012
dbSNP: rs1057517356
rs1057517356 		1.000 0.080 1 75734833 frameshift variant AGTA/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2004 2017
dbSNP: rs201375579
rs201375579 		1.000 0.080 1 75749507 missense variant A/G snv 3.2E-04 1.7E-04
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2005 2014
dbSNP: rs373715782
rs373715782 		1.000 0.080 1 75745822 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2005 2014
dbSNP: rs770273135
rs770273135 		0.925 0.080 1 75745904 missense variant T/A;C snv 4.0E-06; 8.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2001 2017
dbSNP: rs370523609
rs370523609 		1.000 0.080 1 75745788 non coding transcript exon variant G/A snv 2.5E-04 5.0E-04
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2010 2017
dbSNP: rs762114560
rs762114560 		1.000 0.080 1 75732886 missense variant C/T snv 7.2E-05 7.0E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2006 2012