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Analytes
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Type
Symbol
Name
Synonyms
XREF(s)
IRX1
iroquois homeobox 1
OMIM
,
HGNC
MMP15
matrix metallopeptidase 15
OMIM
,
HGNC
PHYH
phytanoyl-CoA 2-hydroxylase
PAHX, PHYH1, RD, Refsum disease, phytanoyl-CoA dioxygenase
Orphanet
,
Ensembl
,
Genatlas
,
HGNC
,
OMIM
,
Reactome
,
SwissProt
MYL9
myosin light chain 9
OMIM
,
HGNC
,
ORPHANET
NUAK2
NUAK family kinase 2
OMIM
,
HGNC
OTUD5
OTU deubiquitinase 5
OMIM
,
HGNC
,
ORPHANET
PAICS
phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
OMIM
,
HGNC
,
ORPHANET
SIK3
SIK family kinase 3
OMIM
,
HGNC
SLC20A1
solute carrier family 20 member 1
OMIM
,
HGNC
,
ORPHANET
EDEM3
ER degradation enhancing alpha-mannosidase like protein 3
OMIM
,
HGNC
,
ORPHANET
EPHA7
EPH receptor A7
OMIM
,
HGNC
,
ORPHANET
EXOC2
exocyst complex component 2
OMIM
,
HGNC
EXOC7
exocyst complex component 7
OMIM
,
HGNC
PEX7
peroxisomal biogenesis factor 7
PTS2R, RD, Refsum disease
Orphanet
,
Genatlas
,
HGNC
,
OMIM
,
SwissProt
,
Ensembl
FAM50A
family with sequence similarity 50 member A
OMIM
,
HGNC
,
ORPHANET
FBRSL1
fibrosin like 1
OMIM
,
HGNC
FBXO28
F-box protein 28
OMIM
,
HGNC
,
ORPHANET
GEMIN5
gem nuclear organelle associated protein 5
OMIM
,
HGNC
,
ORPHANET
GNB2
G protein subunit beta 2
OMIM
,
HGNC
,
ORPHANET
H4C5
H4 clustered histone 5
OMIM
,
HGNC
,
ORPHANET
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