Entrez Id: |
3293 |
Gene Symbol: |
HSD17B3 |
HSD17B3
|
hydroxysteroid 17-beta dehydrogenase 3
|
0.641 |
0.346 |
8.5E-07 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
disease |
0.790 |
strong
|
1.000 |
6 |
14 |
1994 |
2018 |
Entrez Id: |
55526 |
Gene Symbol: |
DHTKD1 |
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
0.711 |
0.385 |
2.8E-30 |
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
|
disease |
0.700 |
None
|
1.000 |
1 |
1 |
2012 |
2016 |
HSD17B10
|
hydroxysteroid 17-beta dehydrogenase 10
|
0.656 |
0.538 |
0.94 |
2-methyl-3-hydroxybutyric aciduria
|
phenotype |
0.750 |
definitive
|
1.000 |
12 |
8 |
1999 |
2019 |
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 |
2 |
1 |
2000 |
2016 |
Entrez Id: |
85358 |
Gene Symbol: |
SHANK3 |
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
0.550 |
0.731 |
1.00 |
22q13.3 Deletion Syndrome
|
disease |
1.000 |
definitive
|
1.000 |
3 |
1 |
2001 |
2020 |
Entrez Id: |
3284 |
Gene Symbol: |
HSD3B2 |
HSD3B2
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
|
0.582 |
0.500 |
7.2E-08 |
3 beta-Hydroxysteroid dehydrogenase deficiency
|
disease |
0.780 |
None
|
1.000 |
17 |
16 |
1993 |
2015 |
Entrez Id: |
549 |
Gene Symbol: |
AUH |
AUH
|
AU RNA binding methylglutaconyl-CoA hydratase
|
0.686 |
0.346 |
8.0E-06 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
|
disease |
0.750 |
definitive
|
1.000 |
1 |
1 |
1982 |
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 |
3 |
5 |
1994 |
2016 |
Entrez Id: |
3033 |
Gene Symbol: |
HADH |
HADH
|
hydroxyacyl-CoA dehydrogenase
|
0.650 |
0.538 |
6.6E-05 |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
disease |
0.700 |
definitive
|
1.000 |
0 |
2 |
2001 |
2016 |
Entrez Id: |
56922 |
Gene Symbol: |
MCCC1 |
MCCC1
|
methylcrotonoyl-CoA carboxylase 1
|
0.700 |
0.308 |
4.0E-12 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
disease |
0.730 |
definitive
|
1.000 |
11 |
27 |
2001 |
2016 |
Entrez Id: |
64087 |
Gene Symbol: |
MCCC2 |
MCCC2
|
methylcrotonoyl-CoA carboxylase 2
|
0.674 |
0.423 |
4.5E-11 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
disease |
0.700 |
None
|
1.000 |
11 |
45 |
2001 |
2016 |
Entrez Id: |
6901 |
Gene Symbol: |
TAZ |
TAZ
|
tafazzin
|
0.477 |
0.808 |
0.73 |
3-Methylglutaconic aciduria type 2
|
disease |
0.800 |
strong
|
0.979 |
4 |
4 |
1991 |
2020 |
Entrez Id: |
81570 |
Gene Symbol: |
CLPB |
CLPB
|
caseinolytic mitochondrial matrix peptidase chaperone subunit B
|
0.631 |
0.654 |
5.0E-04 |
3-methylglutaconic aciduria type 7
|
disease |
0.700 |
None
|
1.000 |
2 |
6 |
2015 |
2017 |
Entrez Id: |
84947 |
Gene Symbol: |
SERAC1 |
SERAC1
|
serine active site containing 1
|
0.686 |
0.385 |
3.9E-06 |
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
|
disease |
0.720 |
None
|
1.000 |
3 |
2 |
2006 |
2019 |
Entrez Id: |
92609 |
Gene Symbol: |
TIMM50 |
TIMM50
|
translocase of inner mitochondrial membrane 50
|
0.678 |
0.500 |
1.8E-03 |
3-METHYLGLUTACONIC ACIDURIA, TYPE IX
|
disease |
0.700 |
None
|
1.000 |
1 |
2 |
2017 |
2019 |
Entrez Id: |
27429 |
Gene Symbol: |
HTRA2 |
HTRA2
|
HtrA serine peptidase 2
|
0.542 |
0.692 |
3.6E-03 |
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
|
disease |
0.600 |
None
|
1.000 |
2 |
1 |
2005 |
2017 |
Entrez Id: |
84733 |
Gene Symbol: |
CBX2 |
CBX2
|
chromobox 2
|
0.674 |
0.269 |
1.00 |
46, XY Sex Reversal 5
|
disease |
0.600 |
limited
|
1.000 |
1 |
2 |
2009 |
2009 |
Entrez Id: |
2516 |
Gene Symbol: |
NR5A1 |
NR5A1
|
nuclear receptor subfamily 5 group A member 1
|
0.479 |
0.731 |
0.99 |
46,XX SEX REVERSAL 4
|
disease |
0.400 |
None
|
1.000 |
4 |
2 |
2016 |
2017 |
Entrez Id: |
50846 |
Gene Symbol: |
DHH |
DHH
|
desert hedgehog signaling molecule
|
0.650 |
0.423 |
0.22 |
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
|
disease |
0.700 |
strong
|
1.000 |
1 |
1 |
2004 |
2018 |
Entrez Id: |
6736 |
Gene Symbol: |
SRY |
SRY
|
sex determining region Y
|
0.456 |
0.808 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
disease |
0.700 |
strong
|
1.000 |
24 |
13 |
1990 |
2017 |
Entrez Id: |
2516 |
Gene Symbol: |
NR5A1 |
NR5A1
|
nuclear receptor subfamily 5 group A member 1
|
0.479 |
0.731 |
0.99 |
46,XY Sex Reversal 3
|
disease |
0.700 |
None
|
1.000 |
8 |
8 |
1999 |
2017 |
Entrez Id: |
4214 |
Gene Symbol: |
MAP3K1 |
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1
|
0.538 |
0.731 |
1.00 |
46,XY SEX REVERSAL 6
|
disease |
0.700 |
None
|
1.000 |
1 |
2 |
2003 |
2010 |
Entrez Id: |
23414 |
Gene Symbol: |
ZFPM2 |
ZFPM2
|
zinc finger protein, FOG family member 2
|
0.565 |
0.731 |
1.00 |
46,XY SEX REVERSAL 9
|
disease |
0.700 |
moderate
|
1.000 |
1 |
3 |
2014 |
2015 |
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 |
12 |
20 |
1987 |
2017 |
Entrez Id: |
2245 |
Gene Symbol: |
FGD1 |
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
0.573 |
0.731 |
1.00 |
Aarskog syndrome
|
disease |
0.800 |
definitive
|
0.935 |
3 |
2 |
1994 |
2017 |