Entrez Id: |
3155 |
Gene Symbol: |
HMGCL |
HMGCL
|
3-hydroxy-3-methylglutaryl-CoA lyase
|
0.691 |
0.462 |
2.6E-06 |
HMG CoA lyase deficiency
|
disease |
0.780 |
definitive
|
0.967 |
8 |
0 |
1988 |
2020 |
Entrez Id: |
3155 |
Gene Symbol: |
HMGCL |
HMGCL
|
3-hydroxy-3-methylglutaryl-CoA lyase
|
0.691 |
0.462 |
2.6E-06 |
Hydroxymethylglutaric aciduria
|
disease |
0.500 |
definitive
|
1.000 |
8 |
0 |
1988 |
2017 |
Entrez Id: |
3158 |
Gene Symbol: |
HMGCS2 |
HMGCS2
|
3-hydroxy-3-methylglutaryl-CoA synthase 2
|
0.666 |
0.577 |
4.3E-14 |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
|
disease |
0.710 |
definitive
|
1.000 |
8 |
0 |
1994 |
2016 |
Entrez Id: |
26275 |
Gene Symbol: |
HIBCH |
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
0.700 |
0.500 |
2.6E-13 |
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
|
disease |
0.710 |
definitive
|
1.000 |
7 |
0 |
1982 |
2019 |
Entrez Id: |
3242 |
Gene Symbol: |
HPD |
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
0.573 |
0.769 |
5.3E-04 |
Tyrosinemia, Type III
|
disease |
0.940 |
moderate
|
1.000 |
6 |
0 |
1972 |
2012 |
Entrez Id: |
5805 |
Gene Symbol: |
PTS |
PTS
|
6-pyruvoyltetrahydropterin synthase
|
0.636 |
0.654 |
6.5E-06 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
disease |
0.900 |
definitive
|
1.000 |
7 |
0 |
1987 |
2017 |
Entrez Id: |
1717 |
Gene Symbol: |
DHCR7 |
DHCR7
|
7-dehydrocholesterol reductase
|
0.500 |
0.846 |
3.9E-13 |
Smith-Lemli-Opitz Syndrome
|
disease |
1.000 |
definitive
|
0.987 |
11 |
0 |
1987 |
2018 |
Entrez Id: |
10142 |
Gene Symbol: |
AKAP9 |
AKAP9
|
A-kinase anchoring protein 9
|
0.638 |
0.385 |
4.5E-17 |
Long Qt Syndrome 11
|
disease |
0.700 |
limited
|
1.000 |
2 |
0 |
2002 |
2014 |
Entrez Id: |
26090 |
Gene Symbol: |
ABHD12 |
ABHD12
|
abhydrolase domain containing 12
|
0.666 |
0.385 |
1.9E-05 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
disease |
0.970 |
definitive
|
0.833 |
6 |
0 |
2010 |
2019 |
Entrez Id: |
38 |
Gene Symbol: |
ACAT1 |
ACAT1
|
acetyl-CoA acetyltransferase 1
|
0.538 |
0.692 |
9.9E-08 |
Deficiency of acetyl-CoA acetyltransferase
|
disease |
0.800 |
definitive
|
1.000 |
8 |
0 |
1979 |
2019 |
Entrez Id: |
58 |
Gene Symbol: |
ACTA1 |
ACTA1
|
actin alpha 1, skeletal muscle
|
0.540 |
0.769 |
1.1E-06 |
Hypertrophic Cardiomyopathy
|
disease |
0.530 |
|
1.000 |
3 |
0 |
2001 |
2013 |
Entrez Id: |
59 |
Gene Symbol: |
ACTA2 |
ACTA2
|
actin alpha 2, smooth muscle
|
0.508 |
0.846 |
0.93 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
0.600 |
definitive
|
1.000 |
7 |
0 |
2000 |
2016 |
Entrez Id: |
70 |
Gene Symbol: |
ACTC1 |
ACTC1
|
actin alpha cardiac muscle 1
|
0.610 |
0.538 |
0.74 |
Hypertrophic Cardiomyopathy
|
disease |
0.700 |
definitive
|
0.962 |
11 |
0 |
1999 |
2019 |
Entrez Id: |
71 |
Gene Symbol: |
ACTG1 |
ACTG1
|
actin gamma 1
|
0.477 |
0.846 |
4.8E-03 |
Nonsyndromic Deafness
|
disease |
0.330 |
definitive
|
1.000 |
18 |
0 |
2003 |
2018 |
Entrez Id: |
71 |
Gene Symbol: |
ACTG1 |
ACTG1
|
actin gamma 1
|
0.477 |
0.846 |
4.8E-03 |
BARAITSER-WINTER SYNDROME 2
|
disease |
0.700 |
definitive
|
1.000 |
3 |
0 |
1996 |
2016 |
Entrez Id: |
22926 |
Gene Symbol: |
ATF6 |
ATF6
|
activating transcription factor 6
|
0.516 |
0.846 |
3.2E-07 |
ACHROMATOPSIA 7
|
disease |
0.700 |
strong
|
1.000 |
2 |
0 |
2015 |
2015 |
Entrez Id: |
94 |
Gene Symbol: |
ACVRL1 |
ACVRL1
|
activin A receptor like type 1
|
0.493 |
0.769 |
9.7E-04 |
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
|
disease |
0.400 |
definitive
|
1.000 |
11 |
0 |
1996 |
2015 |
Entrez Id: |
94 |
Gene Symbol: |
ACVRL1 |
ACVRL1
|
activin A receptor like type 1
|
0.493 |
0.769 |
9.7E-04 |
OSLER-RENDU-WEBER SYNDROME 2
|
disease |
0.760 |
definitive
|
1.000 |
11 |
0 |
1996 |
2018 |
Entrez Id: |
27034 |
Gene Symbol: |
ACAD8 |
ACAD8
|
acyl-CoA dehydrogenase family member 8
|
0.506 |
0.885 |
5.6E-14 |
Isobutyryl-CoA dehydrogenase deficiency
|
disease |
0.730 |
definitive
|
1.000 |
8 |
0 |
2003 |
2018 |
Entrez Id: |
28976 |
Gene Symbol: |
ACAD9 |
ACAD9
|
acyl-CoA dehydrogenase family member 9
|
0.722 |
0.269 |
4.5E-08 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
disease |
0.610 |
definitive
|
1.000 |
9 |
0 |
2002 |
2016 |
Entrez Id: |
33 |
Gene Symbol: |
ACADL |
ACADL
|
acyl-CoA dehydrogenase long chain
|
0.736 |
0.462 |
1.7E-12 |
Long chain acyl-CoA dehydrogenase deficiency
|
disease |
0.500 |
disputed
|
1.000 |
4 |
0 |
1983 |
2014 |
Entrez Id: |
34 |
Gene Symbol: |
ACADM |
ACADM
|
acyl-CoA dehydrogenase medium chain
|
0.638 |
0.462 |
2.1E-12 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
disease |
1.000 |
definitive
|
0.991 |
6 |
0 |
1983 |
2019 |
Entrez Id: |
35 |
Gene Symbol: |
ACADS |
ACADS
|
acyl-CoA dehydrogenase short chain
|
0.663 |
0.538 |
2.8E-06 |
Deficiency of butyryl-CoA dehydrogenase
|
disease |
1.000 |
definitive
|
1.000 |
9 |
0 |
1989 |
2018 |
Entrez Id: |
36 |
Gene Symbol: |
ACADSB |
ACADSB
|
acyl-CoA dehydrogenase short/branched chain
|
0.691 |
0.500 |
2.7E-11 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
disease |
0.700 |
definitive
|
1.000 |
6 |
0 |
2000 |
2016 |
Entrez Id: |
37 |
Gene Symbol: |
ACADVL |
ACADVL
|
acyl-CoA dehydrogenase very long chain
|
0.653 |
0.654 |
4.2E-15 |
Very long chain acyl-CoA dehydrogenase deficiency
|
disease |
1.000 |
definitive
|
0.989 |
8 |
0 |
1985 |
2020 |