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ABCA1
: ATP-binding cassette, sub-family A (ABC1), member 1
ACVR1
: activin A receptor, type I
ACVRL1
: activin A receptor type II-like 1
ADA
: adenosine deaminase
AGPAT2
: 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
AIRE
: autoimmune regulator
ALAD
: aminolevulinate, delta-, dehydratase
ALAS1
: aminolevulinate, delta-, synthase 1
ALAS2
: aminolevulinate, delta-, synthase 2
AMELX
: amelogenin (amelogenesis imperfecta 1, X-linked)
ANG
: angiogenin, ribonuclease, RNase A family, 5
APOE
: apolipoprotein E
ATP7A
: ATPase, Cu++ transporting, alpha polypeptide
ATRX
: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
BCOR
: BCL6 co-repressor
BLM
: Bloom syndrome, RecQ helicase-like
BMPR2
: bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA1
: breast cancer 1, early onset
BRCA2
: breast cancer 2, early onset
BRIP1
: BRCA1 interacting protein C-terminal helicase 1
CHM
: choroideremia (Rab escort protein 1)
CNBP
: CCHC-type zinc finger, nucleic acid binding protein
COL1A1
: collagen, type I, alpha 1
COL3A1
: collagen, type III, alpha 1
COL5A1
: collagen, type V, alpha 1
CPOX
: coproporphyrinogen oxidase
CPS1
: carbamoyl-phosphate synthetase 1, mitochondrial
CREBBP
: CREB binding protein
DHCR7
: 7-dehydrocholesterol reductase
DMD
: dystrophin
DNM2
: dynamin 2
DRD3
: dopamine receptor D3
EDA
: ectodysplasin A
EDNRB
: endothelin receptor type B
EIF2B1
: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2
: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3
: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4
: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5
: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ENG
: endoglin
EP300
: E1A binding protein p300
ERCC6
: excision repair cross-complementing rodent repair deficiency, complementation group 6
EXT1
: exostoses (multiple) 1
EXT2
: exostoses (multiple) 2
F2
: coagulation factor II (thrombin)
FECH
: ferrochelatase (protoporphyria)
FLNA
: filamin A, alpha
FOXP3
: forkhead box P3
FXN
: frataxin
G6PD
: glucose-6-phosphate dehydrogenase
GAMT
: guanidinoacetate N-methyltransferase
GCH1
: GTP cyclohydrolase 1
GLA
: galactosidase, alpha
GNAS
: GNAS complex locus
GPR143
: G protein-coupled receptor 143
GTF2I
: general transcription factor IIi
GTF2IRD1
: GTF2I repeat domain containing 1
HBB
: hemoglobin, beta
HMBS
: hydroxymethylbilane synthase
HSD17B3
: hydroxysteroid (17-beta) dehydrogenase 3
HSPB1
: heat shock 27kDa protein 1
IGF2
: insulin-like growth factor 2 (somatomedin A)
IKBKAP
: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL1A
: interleukin 1, alpha
LDLR
: low density lipoprotein receptor
LDLRAP1
: low density lipoprotein receptor adaptor protein 1
LIPA
: lipase A, lysosomal acid, cholesterol esterase
LITAF
: lipopolysaccharide-induced TNF factor
LMX1B
: LIM homeobox transcription factor 1, beta
LPL
: lipoprotein lipase
LRP2
: low density lipoprotein-related protein 2
MECP2
: methyl CpG binding protein 2 (Rett syndrome)
MED12
: mediator complex subunit 12
MEN1
: multiple endocrine neoplasia I
MITF
: microphthalmia-associated transcription factor
MSTN
: myostatin
MYCN
: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
MYO6
: myosin VI
NBN
: nibrin
NF1
: neurofibromin 1
NF2
: neurofibromin 2 (merlin)
NLRP12
: NLR family, pyrin domain containing 12
NLRP3
: NLR family, pyrin domain containing 3
NOD2
: nucleotide-binding oligomerization domain containing 2
NOTCH2
: Notch homolog 2 (Drosophila)
NPC1
: Niemann-Pick disease, type C1
NR0B1
: nuclear receptor subfamily 0, group B, member 1
NR5A1
: nuclear receptor subfamily 5, group A, member 1
NSD1
: nuclear receptor binding SET domain protein 1
NSDHL
: NAD(P) dependent steroid dehydrogenase-like
OCA2
: oculocutaneous albinism II
OTC
: ornithine carbamoyltransferase
PAH
: phenylalanine hydroxylase
PAX3
: paired box 3
PAX8
: paired box 8
PIGA
: phosphatidylinositol glycan anchor biosynthesis, class A
PLOD1
: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
PPOX
: protoporphyrinogen oxidase
PRKAG2
: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PTS
: 6-pyruvoyltetrahydropterin synthase
RAD50
: RAD50 homolog (S. cerevisiae)
RAD51
: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
RB1
: retinoblastoma 1
RPL11
: ribosomal protein L11
RPL35A
: ribosomal protein L35a
RPL5
: ribosomal protein L5
RPS17
: ribosomal protein S17
RPS19
: ribosomal protein S19
RPS24
: ribosomal protein S24
RPS7
: ribosomal protein S7
RUNX2
: runt-related transcription factor 2
SHOX
: short stature homeobox
SMAD4
: SMAD family member 4
SMARCAL1
: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAI2
: snail homolog 2 (Drosophila)
SOD1
: superoxide dismutase 1, soluble
SOX2
: SRY (sex determining region Y)-box 2
SRD5A2
: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
STAT3
: signal transducer and activator of transcription 3 (acute-phase response factor)
SUCLA2
: succinate-CoA ligase, ADP-forming, beta subunit
TAF1
: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TAZ
: tafazzin
TBP
: TATA box binding protein
TBX1
: T-box 1
TBX5
: T-box 5
TFAP2B
: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1
: transforming growth factor, beta 1
TH
: tyrosine hydroxylase
TP53
: tumor protein p53
TRAPPC2
: trafficking protein particle complex 2
TRPS1
: trichorhinophalangeal syndrome I
TSC1
: tuberous sclerosis 1
TWIST1
: twist homolog 1 (Drosophila)
TYMP
: thymidine phosphorylase
TYR
: tyrosinase (oculocutaneous albinism IA)
UROD
: uroporphyrinogen decarboxylase
UROS
: uroporphyrinogen III synthase
VHL
: von Hippel-Lindau tumor suppressor
WRN
: Werner syndrome, RecQ helicase-like
WT1
: Wilms tumor 1
YARS
: tyrosyl-tRNA synthetase
ZEB2
: zinc finger E-box binding homeobox 2
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009