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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
ACADVL
: acyl-coenzyme A dehydrogenase, very long chain
ACAT1
: acetyl-Coenzyme A acetyltransferase 1
ALAS2
: aminolevulinate, delta-, synthase 2
ALDH4A1
: aldehyde dehydrogenase 4 family, member A1
ALMS1
: Alstrom syndrome 1
ALS2
: amyotrophic lateral sclerosis 2 (juvenile)
ANG
: angiogenin, ribonuclease, RNase A family, 5
APC
: adenomatous polyposis coli
APOB
: apolipoprotein B (including Ag(x) antigen)
APP
: amyloid beta (A4) precursor protein
APTX
: aprataxin
ARFGEF2
: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ATM
: ataxia telangiectasia mutated
ATP7A
: ATPase, Cu++ transporting, alpha polypeptide
ATP7B
: ATPase, Cu++ transporting, beta polypeptide
ATRX
: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
BARD1
: BRCA1 associated RING domain 1
BCKDHA
: branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB
: branched chain keto acid dehydrogenase E1, beta polypeptide
BCOR
: BCL6 co-repressor
BLM
: Bloom syndrome, RecQ helicase-like
BRCA1
: breast cancer 1, early onset
BRCA2
: breast cancer 2, early onset
BSCL2
: Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
CACNA1C
: calcium channel, voltage-dependent, L type, alpha 1C subunit
CBS
: cystathionine-beta-synthase
CHEK2
: CHK2 checkpoint homolog (S. pombe)
CLIP2
: CAP-GLY domain containing linker protein 2
CLN3
: ceroid-lipofuscinosis, neuronal 3
CPS1
: carbamoyl-phosphate synthetase 1, mitochondrial
CPT2
: carnitine palmitoyltransferase 2
CTNS
: cystinosis, nephropathic
CUL7
: cullin 7
CYP27A1
: cytochrome P450, family 27, subfamily A, polypeptide 1
DBT
: dihydrolipoamide branched chain transacylase E2
DCTN1
: dynactin 1 (p150, glued homolog, Drosophila)
DCX
: doublecortin
DHCR7
: 7-dehydrocholesterol reductase
DLD
: dihydrolipoamide dehydrogenase
ERAP1
: endoplasmic reticulum aminopeptidase 1
ERCC6
: excision repair cross-complementing rodent repair deficiency, complementation group 6
ERCC8
: excision repair cross-complementing rodent repair deficiency, complementation group 8
ETFA
: electron-transfer-flavoprotein, alpha polypeptide
ETFB
: electron-transfer-flavoprotein, beta polypeptide
ETFDH
: electron-transferring-flavoprotein dehydrogenase
EXT1
: exostoses (multiple) 1
F5
: coagulation factor V (proaccelerin, labile factor)
F8
: coagulation factor VIII, procoagulant component
FECH
: ferrochelatase (protoporphyria)
FH
: fumarate hydratase
FMR1
: fragile X mental retardation 1
FTL
: ferritin, light polypeptide
FXN
: frataxin
G6PD
: glucose-6-phosphate dehydrogenase
GAN
: gigaxonin
GFAP
: glial fibrillary acidic protein
GJA1
: gap junction protein, alpha 1, 43kDa
GJB1
: gap junction protein, beta 1, 32kDa
GJB2
: gap junction protein, beta 2, 26kDa
GLI3
: GLI family zinc finger 3
GNAS
: GNAS complex locus
GNAT2
: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
HADH
: hydroxyacyl-Coenzyme A dehydrogenase
HADHA
: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
HADHB
: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
HBA2
: hemoglobin, alpha 2
HCCS
: holocytochrome c synthase (cytochrome c heme-lyase)
HMGCL
: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
IKBKAP
: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IVD
: isovaleryl Coenzyme A dehydrogenase
JPH3
: junctophilin 3
KIF1B
: kinesin family member 1B
KRT14
: keratin 14
KRT16
: keratin 16
KRT17
: keratin 17
KRT5
: keratin 5
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
LITAF
: lipopolysaccharide-induced TNF factor
LRRK2
: leucine-rich repeat kinase 2
MCCC1
: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
MED12
: mediator complex subunit 12
MEFV
: Mediterranean fever
MEN1
: multiple endocrine neoplasia I
MFN2
: mitofusin 2
MID1
: midline 1 (Opitz/BBB syndrome)
MSH2
: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
MSH6
: mutS homolog 6 (E. coli)
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
MUTYH
: mutY homolog (E. coli)
MYCN
: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
MYH7
: myosin, heavy chain 7, cardiac muscle, beta
MYO1A
: myosin IA
MYO6
: myosin VI
MYO7A
: myosin VIIA
NAGS
: N-acetylglutamate synthase
NBN
: nibrin
NEFH
: neurofilament, heavy polypeptide
NEFL
: neurofilament, light polypeptide
NEFM
: neurofilament, medium polypeptide
NF2
: neurofibromin 2 (merlin)
NOD2
: nucleotide-binding oligomerization domain containing 2
NPC1
: Niemann-Pick disease, type C1
NSDHL
: NAD(P) dependent steroid dehydrogenase-like
OAT
: ornithine aminotransferase (gyrate atrophy)
OCRL
: oculocerebrorenal syndrome of Lowe
OPA1
: optic atrophy 1 (autosomal dominant)
OTC
: ornithine carbamoyltransferase
PABPN1
: poly(A) binding protein, nuclear 1
PAFAH1B1
: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
PAX2
: paired box 2
PAX8
: paired box 8
PC
: pyruvate carboxylase
PIGA
: phosphatidylinositol glycan anchor biosynthesis, class A
PKD2
: polycystic kidney disease 2 (autosomal dominant)
PKHD1
: polycystic kidney and hepatic disease 1 (autosomal recessive)
PLA2G6
: phospholipase A2, group VI (cytosolic, calcium-independent)
PPOX
: protoporphyrinogen oxidase
PRKAG2
: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PROC
: protein C (inactivator of coagulation factors Va and VIIIa)
PRPH
: peripherin
PSEN1
: presenilin 1
RAD50
: RAD50 homolog (S. cerevisiae)
RAD51
: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
RAF1
: v-raf-1 murine leukemia viral oncogene homolog 1
RB1
: retinoblastoma 1
RPL11
: ribosomal protein L11
RPL5
: ribosomal protein L5
RPS17
: ribosomal protein S17
RPS19
: ribosomal protein S19
RPS24
: ribosomal protein S24
RPS6KA3
: ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7
: ribosomal protein S7
RYR1
: ryanodine receptor 1 (skeletal)
SBDS
: Shwachman-Bodian-Diamond syndrome
SEPT9
: septin 9
SERPINA1
: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPING1
: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETX
: senataxin
SIX1
: SIX homeobox 1
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
SMAD4
: SMAD family member 4
SMC1A
: structural maintenance of chromosomes 1A
SMC3
: structural maintenance of chromosomes 3
SMN2
: survival of motor neuron 2, centromeric
SNCAIP
: synuclein, alpha interacting protein
SOD1
: superoxide dismutase 1, soluble
SUCLG1
: succinate-CoA ligase, alpha subunit
TAF1
: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBP
: TATA box binding protein
TCOF1
: Treacher Collins-Franceschetti syndrome 1
TGFB1
: transforming growth factor, beta 1
TH
: tyrosine hydroxylase
TMPRSS3
: transmembrane protease, serine 3
TP53
: tumor protein p53
TSC1
: tuberous sclerosis 1
TTN
: titin
TYR
: tyrosinase (oculocutaneous albinism IA)
VAPB
: VAMP (vesicle-associated membrane protein)-associated protein B and C
VWF
: von Willebrand factor
WFS1
: Wolfram syndrome 1 (wolframin)
WRN
: Werner syndrome, RecQ helicase-like
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009