Anatomical structure development

Anatomical structure development

• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• ACVR1: activin A receptor, type I
• ACVRL1: activin A receptor type II-like 1
• ALAS2: aminolevulinate, delta-, synthase 2
• ALDH5A1: aldehyde dehydrogenase 5 family, member A1
• ALPL: alkaline phosphatase, liver/bone/kidney
• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• ALX4: ALX homeobox 4
• AMELX: amelogenin (amelogenesis imperfecta 1, X-linked)
• ANG: angiogenin, ribonuclease, RNase A family, 5
• ANKH: ankylosis, progressive homolog (mouse)
• APOB: apolipoprotein B (including Ag(x) antigen)
• APOE: apolipoprotein E
• AR: androgen receptor
• ATN1: atrophin 1
• ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
• ATP2B2: ATPase, Ca++ transporting, plasma membrane 2
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide
• BCOR: BCL6 co-repressor
• BMPR1A: bone morphogenetic protein receptor, type IA
• BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
• BRAF: v-raf murine sarcoma viral oncogene homolog B1
• BRCA2: breast cancer 2, early onset
• BTD: biotinidase
• BTK: Bruton agammaglobulinemia tyrosine kinase
• CCM2: cerebral cavernous malformation 2
• CD40LG: CD40 ligand
• CHD7: chromodomain helicase DNA binding protein 7
• CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
• COL11A2: collagen, type XI, alpha 2
• COL17A1: collagen, type XVII, alpha 1
• COL1A1: collagen, type I, alpha 1
• COL1A2: collagen, type I, alpha 2
• COL2A1: collagen, type II, alpha 1
• COL3A1: collagen, type III, alpha 1
• COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
• COL4A4: collagen, type IV, alpha 4
• COL5A1: collagen, type V, alpha 1
• COL5A2: collagen, type V, alpha 2
• COL7A1: collagen, type VII, alpha 1
• COL9A1: collagen, type IX, alpha 1
• COL9A2: collagen, type IX, alpha 2
• COMP: cartilage oligomeric matrix protein
• CTNS: cystinosis, nephropathic
• CUL7: cullin 7
• DCN: decorin
• DCTN1: dynactin 1 (p150, glued homolog, Drosophila)
• DFNB31: deafness, autosomal recessive 31
• DMD: dystrophin
• DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
• DRD3: dopamine receptor D3
• DSPP: dentin sialophosphoprotein
• DUOX2: dual oxidase 2
• EDA: ectodysplasin A
• 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
• ELN: elastin
• EMD: emerin
• ENAM: enamelin
• ENG: endoglin
• EP300: E1A binding protein p300
• ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
• EVC: Ellis van Creveld syndrome
• EXT1: exostoses (multiple) 1
• EXT2: exostoses (multiple) 2
• EYA1: eyes absent homolog 1 (Drosophila)
• EYA4: eyes absent homolog 4 (Drosophila)
• FBN1: fibrillin 1
• FBN2: fibrillin 2
• FGD1: FYVE, RhoGEF and PH domain containing 1
• FGFR1: fibroblast growth factor receptor 1
• FGFR3: fibroblast growth factor receptor 3
• FKTN: fukutin
• FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
• FOXL2: forkhead box L2
• G6PD: glucose-6-phosphate dehydrogenase
• GAA: glucosidase, alpha; acid
• GJA1: gap junction protein, alpha 1, 43kDa
• GJB1: gap junction protein, beta 1, 32kDa
• GPC3: glypican 3
• GPR56: G protein-coupled receptor 56
• GPR98: G protein-coupled receptor 98
• GSS: glutathione synthetase
• HCCS: holocytochrome c synthase (cytochrome c heme-lyase)
• HOXA13: homeobox A13
• HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
• HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3
• HTT: huntingtin
• IGF2: insulin-like growth factor 2 (somatomedin A)
• JAG1: jagged 1 (Alagille syndrome)
• KAL1: Kallmann syndrome 1 sequence
• KRT14: keratin 14
• KRT16: keratin 16
• KRT17: keratin 17
• KRT5: keratin 5
• KRT6A: keratin 6A
• KRT6B: keratin 6B
• L1CAM: L1 cell adhesion molecule
• LAMA3: laminin, alpha 3
• LAMB3: laminin, beta 3
• LAMC2: laminin, gamma 2
• LGI1: leucine-rich, glioma inactivated 1
• LIMK1: LIM domain kinase 1
• LMX1B: LIM homeobox transcription factor 1, beta
• MATN3: matrilin 3
• MEN1: multiple endocrine neoplasia I
• MFN2: mitofusin 2
• MKKS: McKusick-Kaufman syndrome
• MMP20: matrix metallopeptidase 20
• MSTN: myostatin
• MSX2: msh homeobox 2
• MTM1: myotubularin 1
• MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
• MYH7: myosin, heavy chain 7, cardiac muscle, beta
• MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
• NDP: Norrie disease (pseudoglioma)
• NEFH: neurofilament, heavy polypeptide
• NF1: neurofibromin 1
• NF2: neurofibromin 2 (merlin)
• NOTCH2: Notch homolog 2 (Drosophila)
• NR0B1: nuclear receptor subfamily 0, group B, member 1
• NR5A1: nuclear receptor subfamily 5, group A, member 1
• OPA1: optic atrophy 1 (autosomal dominant)
• PAFAH1B1: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
• PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin
• PAX2: paired box 2
• PAX3: paired box 3
• PAX6: paired box 6
• PAX8: paired box 8
• PCSK9: proprotein convertase subtilisin/kexin type 9
• PHOX2B: paired-like homeobox 2b
• PKD1: polycystic kidney disease 1 (autosomal dominant)
• PKD2: polycystic kidney disease 2 (autosomal dominant)
• PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
• PMP22: peripheral myelin protein 22
• PROK2: prokineticin 2
• PRX: periaxin
• PTCH1: patched homolog 1 (Drosophila)
• PTEN: phosphatase and tensin homolog
• PTS: 6-pyruvoyltetrahydropterin synthase
• RET: ret proto-oncogene
• ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila)
• RPS19: ribosomal protein S19
• RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
• RUNX2: runt-related transcription factor 2
• SALL1: sal-like 1 (Drosophila)
• SBDS: Shwachman-Bodian-Diamond syndrome
• SBF2: SET binding factor 2
• SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1
• SGCE: sarcoglycan, epsilon
• SHOX: short stature homeobox
• SIX1: SIX homeobox 1
• SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
• SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
• SNAI2: snail homolog 2 (Drosophila)
• SOD1: superoxide dismutase 1, soluble
• SOST: sclerosteosis
• SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive)
• 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)
• TAZ: tafazzin
• TBX1: T-box 1
• TBX5: T-box 5
• TCOF1: Treacher Collins-Franceschetti syndrome 1
• TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
• TGFB1: transforming growth factor, beta 1
• TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
• TH: tyrosine hydroxylase
• TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
• TRAPPC2: trafficking protein particle complex 2
• TRPS1: trichorhinophalangeal syndrome I
• TSC2: tuberous sclerosis 2
• TSHB: thyroid stimulating hormone, beta
• TTN: titin
• TWIST1: twist homolog 1 (Drosophila)
• UBE3A: ubiquitin protein ligase E3A
• USH2A: Usher syndrome 2A (autosomal recessive, mild)
• VHL: von Hippel-Lindau tumor suppressor
• VLDLR: very low density lipoprotein receptor
• WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
• WFS1: Wolfram syndrome 1 (wolframin)
• WHSC1: Wolf-Hirschhorn syndrome candidate 1
• ZAP70: zeta-chain (TCR) associated protein kinase 70kDa
• ZEB2: zinc finger E-box binding homeobox 2

Source: Gene Ontology Consortium (June 2009).