Analytes

Type Symbol Name Synonyms XREF(s)
11p15.5 11p15.5
GBE1 1,4-alpha-glucan branching enzyme 1 Andersen disease, glycogen branching enzyme, glycogen storage disease type IV Orphanet, OMIM, Reactome, SwissProt, Ensembl, Genatlas, HGNC
14q32.2 14q32.2
HPGD 15-hydroxyprostaglandin dehydrogenase 15-hydroxyprostaglandin dehydrogenase (NAD(+)), SDR36C1, short chain dehydrogenase/reductase family 36C, member 1 Orphanet, OMIM, Reactome, SwissProt, Ensembl, Genatlas, HGNC
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 LPAAT-beta, lysophosphatidic acid acyltransferase, beta, lysophosphatidic acid acyltransferase-beta Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase OMIM, HGNC, ORPHANET
DHCR24 24-dehydrocholesterol reductase Delta(24)-sterol reductase, KIAA0018, seladin-1 Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
DECR1 2,4-dienoyl-CoA reductase 1 OMIM, HGNC, ORPHANET
OAS1 2'-5'-oligoadenylate synthetase 1 2'-5' oligoadenylate synthase 1, IFI-4, OIASI Orphanet, HGNC, Ensembl, SwissProt, OMIM, Genatlas, Reactome
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ATPSK2, PAPS synthase 2, adenosine 5'-phosphosulfate kinase, adenylyl-sulfate kinase, bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2, sulfate adenylyltransferase Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 'Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase', FLJ20421, IMPA3, gPAPP, golgi-resident nucleotide phosphatase Orphanet, Reactome, Ensembl, Genatlas, HGNC, OMIM, SwissProt
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase HL, hydroxymethylglutaricaciduria, hydroxymethylglutaryl-CoA lyase Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
HACD1 3-hydroxyacyl-CoA dehydratase 1 CAP, Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1, cementum attachment protein Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
HAAO 3-hydroxyanthranilate 3,4-dioxygenase Orphanet, HGNC, Ensembl, SwissProt, Reactome, OMIM
HIBCH 3-hydroxyisobutyryl-CoA hydrolase Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
KDSR 3-ketodihydrosphingosine reductase 3-dehydrosphinganine reductase, DHSR, SDR35C1, short chain dehydrogenase/reductase family 35C, member 1 Orphanet, Ensembl, OMIM, SwissProt, HGNC, Genatlas, Reactome
OXCT1 3-oxoacid CoA-transferase 1 SCOT, Succinyl-CoA:3-ketoacid-CoA transferase Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
ABAT 4-aminobutyrate aminotransferase 4-aminobutyrate transaminase, GABA transaminase, GABA-T, GABAT, gamma-aminobutyrate aminotransferase Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 DHDPS2, FLJ37472, N-acetylneuraminate pyruvate lyase 2 (putative), NPL2, dihydrodipicolinate synthetase homolog 2 (E. coli) Orphanet, Reactome, Ensembl, Genatlas, HGNC, OMIM, SwissProt
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