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ABCB7
: ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCD1
: ATP-binding cassette, sub-family D (ALD), member 1
ALAS2
: aminolevulinate, delta-, synthase 2
APOB
: apolipoprotein B (including Ag(x) antigen)
ARFGEF2
: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
BSCL2
: Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
CLN3
: ceroid-lipofuscinosis, neuronal 3
CPT2
: carnitine palmitoyltransferase 2
CTNS
: cystinosis, nephropathic
DHCR7
: 7-dehydrocholesterol reductase
ETFDH
: electron-transferring-flavoprotein dehydrogenase
EXT1
: exostoses (multiple) 1
GJA1
: gap junction protein, alpha 1, 43kDa
GJB1
: gap junction protein, beta 1, 32kDa
GJB2
: gap junction protein, beta 2, 26kDa
GNAS
: GNAS complex locus
HCCS
: holocytochrome c synthase (cytochrome c heme-lyase)
JPH3
: junctophilin 3
KIF1B
: kinesin family member 1B
L2HGDH
: L-2-hydroxyglutarate dehydrogenase
LDLR
: low density lipoprotein receptor
LDLRAP1
: low density lipoprotein receptor adaptor protein 1
LETM1
: leucine zipper-EF-hand containing transmembrane protein 1
LRRK2
: leucine-rich repeat kinase 2
MFN2
: mitofusin 2
MT-ATP6
: mitochondrially encoded ATP synthase 6
MT-ND1
: mitochondrially encoded NADH dehydrogenase 1
MT-ND4
: mitochondrially encoded NADH dehydrogenase 4
MT-ND4L
: mitochondrially encoded NADH dehydrogenase 4L
MT-ND5
: mitochondrially encoded NADH dehydrogenase 5
MT-ND6
: mitochondrially encoded NADH dehydrogenase 6
MYO6
: myosin VI
MYO7A
: myosin VIIA
NSDHL
: NAD(P) dependent steroid dehydrogenase-like
OPA1
: optic atrophy 1 (autosomal dominant)
PIGA
: phosphatidylinositol glycan anchor biosynthesis, class A
PPOX
: protoporphyrinogen oxidase
PSEN1
: presenilin 1
RAF1
: v-raf-1 murine leukemia viral oncogene homolog 1
RYR1
: ryanodine receptor 1 (skeletal)
SLC17A5
: solute carrier family 17 (anion/sugar transporter), member 5
SLC25A13
: solute carrier family 25, member 13 (citrin)
SLC25A15
: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A19
: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A20
: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
TH
: tyrosine hydroxylase
TMPRSS3
: transmembrane protease, serine 3
VAPB
: VAMP (vesicle-associated membrane protein)-associated protein B and C
WFS1
: Wolfram syndrome 1 (wolframin)
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009