Approved Symbol |
Approved Name |
Location |
Source |
ACSM2B |
acyl-CoA synthetase medium-chain family member 2B |
16p12.3 |
Mapped by significant region |
GFPT2 |
glutamine-fructose-6-phosphate transaminase 2 |
5q |
Mapped by CNV |
ACSM3 |
acyl-CoA synthetase medium-chain family member 3 |
16p13.11 |
Mapped by significant region |
ACSM5 |
acyl-CoA synthetase medium-chain family member 5 |
16p12.3 |
Mapped by significant region |
GCNT2 |
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
6p24.2 |
Mapped by CNV |
GALNT13 |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) |
2q24.1 |
Mapped by CNV |
LPCAT1 |
lysophosphatidylcholine acyltransferase 1 |
5p15.33 |
Mapped by LD-proxy |
GGT1 |
gamma-glutamyltransferase 1 |
22q11.23 |
Mapped by CNV |
GGT5 |
gamma-glutamyltransferase 5 |
22q11.23 |
Mapped by CNV |
ACSM1 |
acyl-CoA synthetase medium-chain family member 1 |
16p12.3 |
Mapped by significant region |
ACSM2A |
acyl-CoA synthetase medium-chain family member 2A |
16p12.3 |
Mapped by significant region |
UPB1 |
ureidopropionase, beta |
22q11.2 |
Mapped by CNV |
EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial (putative) |
16p12.3 |
Mapped by significant region |
GMDS |
GDP-mannose 4,6-dehydratase |
6p25 |
Mapped by CNV |
SMPD4 |
sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) |
2q21.1 |
Mapped by PBA pathway; Mapped by significant region |
ALG9 |
asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) |
11q23 |
Mapped by significant region |
ALG2 |
asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) |
9q31.1 |
Mapped by significant region |
ALG8 |
asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) |
11pter-p15.5 |
Mapped by significant region |
STT3A |
STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) |
11q23.3 |
Mapped by significant region |
AMACR |
alpha-methylacyl-CoA racemase |
5p13.2-q11.1 |
Mapped by significant region |
POLA2 |
polymerase (DNA directed), alpha 2 (70kD subunit) |
11q13 |
Mapped by significant region |
POLD3 |
polymerase (DNA-directed), delta 3, accessory subunit |
11q14 |
Mapped by significant region |
POLD4 |
polymerase (DNA-directed), delta 4 |
11q13 |
Mapped by significant region |
ALDH3A1 |
aldehyde dehydrogenase 3 family, member A1 |
17p11.2 |
Mapped by significant region |
POLE3 |
polymerase (DNA directed), epsilon 3 (p17 subunit) |
9q33 |
Mapped by significant region |
WBSCR17 |
Williams-Beuren syndrome chromosome region 17 |
7q11.23 |
Mapped by CNV |
ALDH3A2 |
aldehyde dehydrogenase 3 family, member A2 |
17p11.2 |
Mapped by significant region |
POLR2G |
polymerase (RNA) II (DNA directed) polypeptide G |
11q13.1 |
Mapped by significant region |
DPAGT1 |
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) |
11q23.3 |
Mapped by significant region |
HAAO |
3-hydroxyanthranilate 3,4-dioxygenase |
2p |
Mapped by LD-proxy |
ALAD |
aminolevulinate dehydratase |
9q32 |
Mapped by significant region |
ALDOB |
aldolase B, fructose-bisphosphate |
9q21.3-q22.2 |
Mapped by significant region |
ALDH3B1 |
aldehyde dehydrogenase 3 family, member B1 |
11q13 |
Mapped by significant region |
ALDH3B2 |
aldehyde dehydrogenase 3 family, member B2 |
11q13 |
Mapped by significant region |
PIK3C3 |
phosphoinositide-3-kinase, class 3 |
18q12.3 |
Mapped by significant region |
AGXT2 |
alanine--glyoxylate aminotransferase 2 |
5p13 |
Mapped by significant region |
DLAT |
dihydrolipoamide S-acetyltransferase |
11q23.1 |
Mapped by significant region |
PLCB3 |
phospholipase C, beta 3 (phosphatidylinositol-specific) |
11q13 |
Mapped by significant region |
PLCG2 |
phospholipase C, gamma 2 (phosphatidylinositol-specific) |
16q24.1 |
Mapped by significant region |
ST3GAL4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
11q23-q24 |
Mapped by significant region |
PLCD4 |
phospholipase C, delta 4 |
2q35 |
Mapped by significant region |
ITPA |
inosine triphosphatase (nucleoside triphosphate pyrophosphatase) |
20p |
Mapped by CNV |
PEMT |
phosphatidylethanolamine N-methyltransferase |
17p11.2 |
Mapped by significant region |
APRT |
adenine phosphoribosyltransferase |
16q24 |
Mapped by significant region |
PIGL |
phosphatidylinositol glycan anchor biosynthesis, class L |
17p12-p11.2 |
Mapped by significant region |
MAN1A1 |
mannosidase, alpha, class 1A, member 1 |
6q22 |
Mapped by significant region |
CKMT1A |
creatine kinase, mitochondrial 1A |
15q15 |
Mapped by LD-proxy |
CKMT1B |
creatine kinase, mitochondrial 1B |
15q15 |
Mapped by LD-proxy |
GPAT2 |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
2q11.2 |
Mapped by LD-proxy |
LIPT2 |
lipoyl(octanoyl) transferase 2 (putative) |
11q13.4 |
Mapped by significant region |
GALT |
galactose-1-phosphate uridylyltransferase |
9p13 |
Mapped by LD-proxy |
PC |
pyruvate carboxylase |
11q13.4-q13.5 |
Mapped by significant region |
TM7SF2 |
transmembrane 7 superfamily member 2 |
11q13.1 |
Mapped by significant region |
LPCAT4 |
lysophosphatidylcholine acyltransferase 4 |
15q14 |
Mapped by CNV |
ATIC |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
2q35 |
Mapped by significant region |
PAFAH1B2 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) |
11q23 |
Mapped by significant region |
ATP6V1F |
ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F |
7q32.1 |
Mapped by LD-proxy |
TRDMT1 |
tRNA aspartic acid methyltransferase 1 |
10p15.1 |
Mapped by CNV |
HSD3B7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
16p11.2 |
Mapped by CNV |
MBOAT2 |
membrane bound O-acyltransferase domain containing 2 |
2p25 |
Mapped by significant region |
ENPP3 |
ectonucleotide pyrophosphatase/phosphodiesterase 3 |
6q22 |
Mapped by significant region |
CES5A |
carboxylesterase 5A |
16q13 |
Mapped by LD-proxy |
HYAL4 |
hyaluronoglucosaminidase 4 |
7q31.3 |
Mapped by CNV |
ME3 |
malic enzyme 3, NADP(+)-dependent, mitochondrial |
11 |
Mapped by significant region |
INPP5A |
inositol polyphosphate-5-phosphatase, 40kDa |
10q26.3 |
Mapped by CNV |
TCIRG1 |
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
11q13.2 |
Mapped by significant region |
P4HA3 |
prolyl 4-hydroxylase, alpha polypeptide III |
11q13 |
Mapped by significant region |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
6q22-q23 |
Mapped by significant region |
ARG1 |
arginase, liver |
6q23 |
Mapped by significant region |
PLA2G2A |
phospholipase A2, group IIA (platelets, synovial fluid) |
1p35 |
Mapped by PBA pathway |
PLA2G1B |
phospholipase A2, group IB (pancreas) |
12q23-qter |
Mapped by PBA pathway |
PLA2G2E |
phospholipase A2, group IIE |
1p36.13 |
Mapped by PBA pathway |
COX8A |
cytochrome c oxidase subunit VIIIA (ubiquitous) |
11q12-q13 |
Mapped by significant region |
PLA2G2D |
phospholipase A2, group IID |
1p36.12 |
Mapped by PBA pathway |
PLA2G4B |
phospholipase A2, group IVB (cytosolic) |
15q11.2-q21.3 |
Mapped by PBA pathway |
PLA2G3 |
phospholipase A2, group III |
22q12.2 |
Mapped by PBA pathway |
PLA2G5 |
phospholipase A2, group V |
1p36-p34 |
Mapped by PBA pathway |
PLCB2 |
phospholipase C, beta 2 |
15q15 |
Mapped by PBA pathway |
PLA2G6 |
phospholipase A2, group VI (cytosolic, calcium-independent) |
22q13.1 |
Mapped by PBA pathway |
CRYL1 |
crystallin, lambda 1 |
13q11 |
Mapped by significant region |
PLCE1 |
phospholipase C, epsilon 1 |
10q23 |
Mapped by PBA pathway |
PLCD1 |
phospholipase C, delta 1 |
3p22-p21.3 |
Mapped by PBA pathway |
PLD1 |
phospholipase D1, phosphatidylcholine-specific |
3q26 |
Mapped by PBA pathway |
COX4I1 |
cytochrome c oxidase subunit IV isoform 1 |
16q24.1 |
Mapped by significant region |
MTHFD2L |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like |
4q13.3 |
Mapped by CNV |
UGT1A1 |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
2q37 |
Mapped by LD-proxy |
COQ7 |
coenzyme Q7 homolog, ubiquinone (yeast) |
16p12.3 |
Mapped by significant region |
PAFAH1B1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
17p13.3 |
Mapped by PBA pathway |
TSTA3 |
tissue specific transplantation antigen P35B |
8q24.3 |
Mapped by LD-proxy |
SARDH |
sarcosine dehydrogenase |
9q33-q34 |
Mapped by LD-proxy |
LTC4S |
leukotriene C4 synthase |
5q35 |
Mapped by CNV |
PNLIP |
pancreatic lipase |
10q25.3 |
Mapped by PBA pathway |
PNLIPRP1 |
pancreatic lipase-related protein 1 |
10q26.12 |
Mapped by PBA pathway |
PLD2 |
phospholipase D2 |
17p13.3 |
Mapped by PBA pathway |
CHKA |
choline kinase alpha |
11q13.1 |
Mapped by significant region |
PON2 |
paraoxonase 2 |
7q21.3 |
Mapped by PBA pathway |
PNLIPRP2 |
pancreatic lipase-related protein 2 |
10q26.12 |
Mapped by PBA pathway |
PNPLA3 |
patatin-like phospholipase domain containing 3 |
22q13.31 |
Mapped by PBA pathway |
MGAT1 |
mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
5 |
Mapped by CNV |
MGAT4B |
mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B |
5q35 |
Mapped by CNV |
CHPF |
chondroitin polymerizing factor |
2q35 |
Mapped by significant region |
PIGB |
phosphatidylinositol glycan anchor biosynthesis, class B |
15q21-q22 |
Mapped by LD-proxy |
UGT2A1 |
UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus |
4q13 |
Mapped by significant region |
UGCG |
UDP-glucose ceramide glucosyltransferase |
9q31 |
Mapped by significant region |
INPPL1 |
inositol polyphosphate phosphatase-like 1 |
11q23 |
Mapped by significant region |
DGAT2 |
diacylglycerol O-acyltransferase 2 |
11q13.3 |
Mapped by significant region |
PYCRL |
pyrroline-5-carboxylate reductase-like |
8q24.3 |
Mapped by LD-proxy |
SMPD2 |
sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) |
6q21 |
Mapped by PBA pathway |
CYP27A1 |
cytochrome P450, family 27, subfamily A, polypeptide 1 |
2q33-qter |
Mapped by significant region |
TYR |
tyrosinase (oculocutaneous albinism IA) |
11q14-q21 |
Mapped by significant region |
DAK |
dihydroxyacetone kinase 2 homolog (S. cerevisiae) |
11q12.2 |
Mapped by significant region |
SMPD1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
11p15.4-p15.1 |
Mapped by CNV; Mapped by PBA pathway |
NDUFA4L2 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 |
12q13.3 |
Mapped by CNV |
NDUFA5 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa |
7q31.33 |
Mapped by CNV |
PRDX6 |
peroxiredoxin 6 |
1q24.1 |
Mapped by PBA pathway; Mapped by significant region |
NAT2 |
N-acetyltransferase 2 (arylamine N-acetyltransferase) |
8p22 |
Mapped by CNV |
PLA2G10 |
phospholipase A2, group X |
16p13.1-p12 |
Mapped by PBA pathway; Mapped by significant region |
NDUFS3 |
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) |
11p11.11 |
Mapped by LD-proxy |
ACAT1 |
acetyl-CoA acetyltransferase 1 |
11q22.3 |
Mapped by CNV; Mapped by significant region |
ACAD8 |
acyl-CoA dehydrogenase family, member 8 |
11q25 |
Mapped by CNV; Mapped by significant region |
B3GAT1 |
beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) |
11q25 |
Mapped by CNV; Mapped by significant region |
NMNAT3 |
nicotinamide nucleotide adenylyltransferase 3 |
3q23 |
Mapped by CNV |
IPPK |
inositol 1,3,4,5,6-pentakisphosphate 2-kinase |
9q22.31 |
Mapped by significant region |
UGT2B15 |
UDP glucuronosyltransferase 2 family, polypeptide B15 |
4q13 |
Mapped by significant region |
UGT2B11 |
UDP glucuronosyltransferase 2 family, polypeptide B11 |
4q13.3 |
Mapped by significant region |
UGT2B17 |
UDP glucuronosyltransferase 2 family, polypeptide B17 |
4q13 |
Mapped by significant region |
UGT2A3 |
UDP glucuronosyltransferase 2 family, polypeptide A3 |
4q13.2 |
Mapped by significant region |
UGT2A2 |
UDP glucuronosyltransferase 2 family, polypeptide A2 |
4q13.3 |
Mapped by significant region |
PANK2 |
pantothenate kinase 2 |
20p13 |
Mapped by CNV |
UGT2B10 |
UDP glucuronosyltransferase 2 family, polypeptide B10 |
4q13.3 |
Mapped by significant region |
UGT2B4 |
UDP glucuronosyltransferase 2 family, polypeptide B4 |
4q13 |
Mapped by significant region |
PI4KA |
phosphatidylinositol 4-kinase, catalytic, alpha |
22q11.21 |
Mapped by CNV |
UGT2B7 |
UDP glucuronosyltransferase 2 family, polypeptide B7 |
4q13 |
Mapped by significant region |
PI4K2B |
phosphatidylinositol 4-kinase type 2 beta |
4p15.31 |
Mapped by CNV |
UGT2B28 |
UDP glucuronosyltransferase 2 family, polypeptide B28 |
4q13.3 |
Mapped by significant region |
RRM2 |
ribonucleotide reductase M2 |
2p25-p24 |
Mapped by significant region |
UGT1A8 |
UDP glucuronosyltransferase 1 family, polypeptide A8 |
2q37 |
Mapped by LD-proxy; Mapped by literature SNP |
UGT1A7 |
UDP glucuronosyltransferase 1 family, polypeptide A7 |
2q37 |
Mapped by LD-proxy; Mapped by literature SNP |
UGT1A10 |
UDP glucuronosyltransferase 1 family, polypeptide A10 |
2q37 |
Mapped by LD-proxy; Mapped by literature SNP |
ALG10 |
asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) |
12p11.21 |
Mapped by CNV |
ALDOA |
aldolase A, fructose-bisphosphate |
16p11.2 |
Mapped by CNV |
GMPPA |
GDP-mannose pyrophosphorylase A |
2q36.1 |
Mapped by significant region |
ACACA |
acetyl-CoA carboxylase alpha |
17q21 |
Mapped by CNV |
SHMT1 |
serine hydroxymethyltransferase 1 (soluble) |
17p11.2 |
Mapped by significant region |
MBOAT1 |
membrane bound O-acyltransferase domain containing 1 |
6p22.3 |
Mapped by LD-proxy; Mapped by literature SNP |
NNMT |
nicotinamide N-methyltransferase |
11q23.1 |
Mapped by significant region |
QPRT |
quinolinate phosphoribosyltransferase |
16p11.2 |
Mapped by CNV |
NMNAT2 |
nicotinamide nucleotide adenylyltransferase 2 |
1q25 |
Mapped by significant region |
MLYCD |
malonyl-CoA decarboxylase |
16q24 |
Mapped by CNV; Mapped by significant region |
B4GALT4 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 |
3q13.3 |
Mapped by CNV |
ATP6V0A2 |
ATPase, H+ transporting, lysosomal V0 subunit a2 |
12q24.31 |
Mapped by CNV |
HSD17B2 |
hydroxysteroid (17-beta) dehydrogenase 2 |
16q24.1-q24.2 |
Mapped by significant region |
ATP6V0D2 |
ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 |
8q21.3 |
Mapped by CNV |
HSD17B3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
9q22 |
Mapped by significant region |
PRODH |
proline dehydrogenase (oxidase) 1 |
22q11.2 |
Mapped by CNV |
HIBADH |
3-hydroxyisobutyrate dehydrogenase |
7p15 |
Mapped by significant region |
SC5DL |
sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like |
11q23.3 |
Mapped by significant region |
NT5M |
5',3'-nucleotidase, mitochondrial |
17p11.2 |
Mapped by significant region |
PIGW |
phosphatidylinositol glycan anchor biosynthesis, class W |
17q21.1 |
Mapped by CNV |
PIGY |
phosphatidylinositol glycan anchor biosynthesis, class Y |
4q22.1 |
Mapped by CNV |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
11q23 |
Mapped by significant region |
POLE |
polymerase (DNA directed), epsilon |
12q24.3 |
Mapped by CNV |
POLR1A |
polymerase (RNA) I polypeptide A, 194kDa |
2p11.2 |
Mapped by CNV |
HMBS |
hydroxymethylbilane synthase |
11q23.2-qter |
Mapped by significant region |
UGT1A5 |
UDP glucuronosyltransferase 1 family, polypeptide A5 |
2q37 |
Mapped by LD-proxy |
UGT1A6 |
UDP glucuronosyltransferase 1 family, polypeptide A6 |
2q37 |
Mapped by LD-proxy |
UGT1A3 |
UDP glucuronosyltransferase 1 family, polypeptide A3 |
2q37 |
Mapped by LD-proxy |
ODC1 |
ornithine decarboxylase 1 |
2p25 |
Mapped by significant region |
UGT1A4 |
UDP glucuronosyltransferase 1 family, polypeptide A4 |
2q37 |
Mapped by LD-proxy |
SEPHS2 |
selenophosphate synthetase 2 |
16p11.1 |
Mapped by CNV |
ATP5L |
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G |
11q23.3 |
Mapped by significant region |
ATP6V1C2 |
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 |
2p25.1 |
Mapped by significant region |
MGLL |
monoglyceride lipase |
3p13-q13.33 |
Mapped by PBA pathway |
ATP6V1G1 |
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 |
9q33.1 |
Mapped by significant region |
B3GNT1 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 |
11q13.2 |
Mapped by significant region |
B3GNT6 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) |
11q13.4 |
Mapped by significant region |
AUH |
AU RNA binding protein/enoyl-CoA hydratase |
9q22 |
Mapped by significant region |
B3GAT3 |
beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) |
11q12 |
Mapped by significant region |
NANS |
N-acetylneuraminic acid synthase |
9p24.1-p23 |
Mapped by significant region |
BAAT |
bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) |
9q22.3 |
Mapped by significant region |
B4GALT6 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 |
18q11 |
Mapped by significant region |
LIPF |
lipase, gastric |
10q23 |
Mapped by PBA pathway |
MVD |
mevalonate (diphospho) decarboxylase |
16q24.3 |
Mapped by significant region |
LIPG |
lipase, endothelial |
18q21.1 |
Mapped by PBA pathway |
XYLT1 |
xylosyltransferase I |
16p12 |
Mapped by CNV; Mapped by significant region |
ENPP7 |
ectonucleotide pyrophosphatase/phosphodiesterase 7 |
17q25.3 |
Mapped by PBA pathway |
BCMO1 |
beta-carotene 15,15'-monooxygenase 1 |
16q23.2 |
Mapped by significant region |
UQCRC2 |
ubiquinol-cytochrome c reductase core protein II |
16p12 |
Mapped by CNV; Mapped by significant region |
NDUFV1 |
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa |
11q13 |
Mapped by significant region |
NDUFS8 |
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) |
11q13.2 |
Mapped by significant region |
NDUFAB1 |
NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa |
16p12.3 |
Mapped by significant region |
NDUFC2 |
NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa |
11q14.1 |
Mapped by significant region |
FBP2 |
fructose-1,6-bisphosphatase 2 |
9q22.3 |
Mapped by significant region |
FBP1 |
fructose-1,6-bisphosphatase 1 |
9q22.3 |
Mapped by significant region |
NDUFA8 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa |
9q33.2 |
Mapped by significant region |
FECH |
ferrochelatase |
18q21.2-q21.3 |
Mapped by significant region |
CDIPT |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
16p12.1 |
Mapped by CNV |
GANAB |
glucosidase, alpha; neutral AB |
11q12.3 |
Mapped by significant region |
CES1 |
carboxylesterase 1 |
16q22.2 |
Mapped by PBA pathway |
CYP2E1 |
cytochrome P450, family 2, subfamily E, polypeptide 1 |
10 |
Mapped by CNV |
SPTLC1 |
serine palmitoyltransferase, long chain base subunit 1 |
9q22.31 |
Mapped by significant region |
SPTLC3 |
serine palmitoyltransferase, long chain base subunit 3 |
20p12.1 |
Mapped by CNV |
SQLE |
squalene epoxidase |
8q24.1 |
Mapped by CNV |
SORD |
sorbitol dehydrogenase |
15q15-q21.1 |
Mapped by CNV |
GLUL |
glutamate-ammonia ligase |
1q31 |
Mapped by significant region |
SPAM1 |
sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) |
7q31 |
Mapped by CNV |
PTGS1 |
prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) |
9q32-q33.3 |
Mapped by significant region |
ECHS1 |
enoyl CoA hydratase, short chain, 1, mitochondrial |
10q26.2-q26.3 |
Mapped by CNV |
SHMT2 |
serine hydroxymethyltransferase 2 (mitochondrial) |
12q12-q14 |
Mapped by CNV |
FUT4 |
fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) |
11q12-qter |
Mapped by significant region |
GALNT12 |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) |
9q22.33 |
Mapped by significant region |
PTS |
6-pyruvoyltetrahydropterin synthase |
11q22.3 |
Mapped by significant region |
GALNT1 |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) |
18q12.1 |
Mapped by significant region |
GALNS |
galactosamine (N-acetyl)-6-sulfate sulfatase |
16q24.3 |
Mapped by significant region |