Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10 		hydroxysteroid 17-beta dehydrogenase 10 0.656 0.538 0.94
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.750 definitive 1.000 20 10 1999 2019
Entrez Id: 161835
Gene Symbol: FSIP1
FSIP1 		fibrous sheath interacting protein 1 0.663 0.615 7.7E-14
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8 		acyl-CoA dehydrogenase family member 8 0.506 0.885 5.6E-14
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB 		acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4599
Gene Symbol: MX1
MX1 		MX dynamin like GTPase 1 0.599 0.731 3.4E-18
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.010 None 1.000 1 0 2015 2015
Entrez Id: 549
Gene Symbol: AUH
AUH 		AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.010 None 1.000 1 0 2014 2014