UNSW Embryology
RESPIRATORY SYSTEM
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570 entries found, searching for
"lung" *164850 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED; MYCL1 *182280 SMALL CELL CANCER OF THE LUNG; SCCL 211980 CANCER OF LUNG *600597 PHOSPHOLIPASE C, EPSILON; PLCE 219600 CYSTIC DISEASE OF LUNG *603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 *601612 LUNG AGENESIS *142409 HEPATOCYTE GROWTH FACTOR; HGF 274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA 602016 LUNG KRUPPEL-LIKE ZINC FINGER TRANSCRIPTION FACTOR #268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME *191170 TUMOR PROTEIN p53; TP53 *107400 PROTEASE INHIBITOR 1; PI *190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2 *602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR #219700 CYSTIC FIBROSIS; CF *124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D *108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1 #151623 LI-FRAUMENI SYNDROME; LFS *190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS *180200 RETINOBLASTOMA; RB1 *190160 THYROID HORMONE RECEPTOR, BETA; THRB *603113 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B *142460 SYNDECAN 2; SDC2 *131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 *603486 UBIQUITIN-SPECIFIC PROTEASE 4; USP4 #265120 PULMONARY ALVEOLAR PROTEINOSIS *191325 UBIQUITIN-ACTIVATING ENZYME E1-LIKE; UBE1L *102645 ACYLPEPTIDE HYDROLASE; APH *601089 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 5; FKHL5 *244400 KARTAGENER SYNDROME *176944 PROTEIN TYROSINE KINASE TKF *108345 N-ACETYLTRANSFERASE 1; NAT1 *602056 DEFENSIN, BETA-1; DEFB1 *600725 SONIC HEDGEHOG, DROSOPHILA, HOMOLOG OF; SHH *229850 FRYNS SYNDROME; FRNS *191092 TUBEROUS SCLEROSIS 2; TSC2 *106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN; TAPVR1 *602115 FIBROBLAST GROWTH FACTOR 10; FGF10 *107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT *135000 FIBROCYSTIC PULMONARY DYSPLASIA *137260 GASTRIN-RELEASING POLYPEPTIDE; GRP 243700 JOB SYNDROME *263000 PNEUMONITIS, FAMILIAL DESQUAMATIVE INTERSTITIAL; DIP *603361 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B *165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI *182452 SOMATOSTATIN RECEPTOR 2; SSTR2 *114760 CARBONIC ANHYDRASE IV; CA4 *116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A *103950 ALPHA-2-MACROGLOBULIN; A2M *104620 AMINOACYLASE 1; ACY1 *601281 SEMAPHORIN A-V *173350 PLASMINOGEN; PLG *178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD *603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2 156240 MESOTHELIOMA, MALIGNANT *601159 CHEMOKINE (C-C) RECEPTOR 1; CMKBR1 #225350 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL RECESSIVE; EDS4 *138350 GLUTATHIONE S-TRANSFERASE, MU 1; GSTM1 *136950 PAIRED BASIC AMINO ACID CLEAVING ENZYME; PACE *600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA; SCNN1A *600865 RETICULON 1; RTN1 *601124 SEMAPHORIN III/F; SEMA3F *168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH *124075 CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1 *120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1 *601339 THIOREDOXIN REDUCTASE, SELENOCYSTEINE-CONTAINING *141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1 *158343 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN; MRP *139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1 *600997 EPHRIN RECEPTOR EphB2; EPHB2 *603306 TRANSCRIPTION FACTOR 21; TCF21 *600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4G; EIF4G 178500 PULMONARY FIBROSIS, IDIOPATHIC *603250 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 6; FKHL6 *601364 CADHERIN 13; CDH13 *203300 HERMANSKY-PUDLAK SYNDROME; HPS *603120 QUIESCIN Q6; QSCN6 *178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB *602215 DEFENSIN, BETA-2; DEFB2 *113705 BREAST CANCER, TYPE 1; BRCA1 *194533 ZINC FINGER PROTEIN 35; ZNF35 153600 MACROGLOBULINEMIA, WALDENSTROM; WM *170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 1; TAP1 *190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1 *300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2 *172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B #108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY *602725 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2 *602913 CYTOKINE-INDUCIBLE KINASE; CNK *300091 FOS-INDUCED GROWTH FACTOR; FIGF *118509 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4 #114400 CANCER *601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D *138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB *116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA 114900 CARCINOID, INTESTINAL 308050 ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS *138321 GLUTATHIONE PEROXIDASE 3; GPX3 *601521 ENDOTHELIAL CELL-SPECIFIC MOLECULE-1 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY *602560 TRACHEAL ANTIMICROBIAL PEPTIDE *313850 THORACOABDOMINAL SYNDROME; THAS *601252 FICOLIN 1; FCN1 *602614 TRANSFORMING GROWTH FACTOR-BETA-ACTIVATED KINASE 1; TAK1 *117550 CEREBRAL GIGANTISM #146510 PALLISTER-HALL SYNDROME; PHS *602908 B5T OVEREXPRESSED GENE *236680 HYDROLETHALUS SYNDROME 236000 HODGKIN DISEASE *147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA *132700 EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC *601153 FRAGILE HISTIDINE TRIAD GENE; FHIT *600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2 *131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB *116845 CATHEPSIN S; CTSS 130710 EMPHYSEMA, CONGENITAL LOBAR; CLE *211890 CAMPOMELIA, CUMMING TYPE *151570 LEUKOTRIENE A4 HYDROLASE; LTA4H *273395 TETRA-AMELIA WITH PULMONARY HYPOPLASIA *208500 ASPHYXIATING THORACIC DYSTROPHY; ATD 601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA *600635 THYROID TRANSCRIPTION FACTOR 1; TITF1 *141900 HEMOGLOBIN--BETA LOCUS; HBB *192340 ARGININE VASOPRESSIN; AVP *601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1 *300107 BOMBESIN-LIKE RECEPTOR 3; BRS3 *162332 NEUROKININ 3 RECEPTOR; NK3R *176886 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG *179590 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF *190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3 *158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY #183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE *162200 NEUROFIBROMATOSIS, TYPE I; NF1 *162323 TACHYKININ 1 RECEPTOR; TACR1 *190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC *167050 OXYTOCIN--NEUROPHYSIN I; OXT *180610 RLF PROTEIN INVOLVED IN ACTIVATION OF LMYC *185490 SUPEROXIDE DISMUTASE, EXTRACELLULAR; SOD3 *141251 HEME OXYGENASE 2; HMOX2 137100 GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF *142408 MACROPHAGE STIMULATING 1; MST1 *164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS *132350 EPIMORPHIN; EPIM *143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD *149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD *123280 CREATINE KINASE, BRAIN TYPE; CKB; CKBB *134797 FIBRILLIN 1; FBN1 *168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4 *120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1 *118910 CHROMOGRANIN A; CHGA #114480 CANCER OF THE BREAST, FAMILIAL; BCS *134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1 *114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA *126430 TOPOISOMERASE, DNA, II, ALPHA; TOP2A 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME *109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2 *172450 PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; PPAT #109400 BASAL CELL NEVUS SYNDROME; BCNS *173600 PNEUMOTHORAX, SPONTANEOUS 175050 POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION *109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1 #100800 ACHONDROPLASIA; ACH *100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1 *155600 MELANOMA, MALIGNANT 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME *602502 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 1; GOLGA1 *600168 MACROPHAGE STIMULATING 1 RECEPTOR; MST1R *600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2 *314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED *601916 ARGININE-RICH PROTEIN *176946 EPHRIN RECEPTOR EphA2; EPHA2 #253300 SPINAL MUSCULAR ATROPHY I; SMA1 *253240 MUCUS INSPISSATION OF RESPIRATORY TRACT *600718 MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1 178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL 246550 LICHTENSTEIN SYNDROME *602843 RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB *600517 SQUAMOUS CELL CARCINOMA ANTIGEN 1; SCCA1 *602227 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 19; SCYA19 *600133 LAMININ, ALPHA-4; LAMA4 *602187 ZINC FINGER PROTEIN 195; ZNF195 *179610 EPHRIN RECEPTOR EphA1; EPHA1 *179618 RECOVERIN; RCV1 *600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A 180300 RHEUMATOID ARTHRITIS *602261 MATRIX METALLOPROTEINASE 15; MMP15 *307800 HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS *601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30 *601492 HYALURONIDASE DEFICIENCY *601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1 *219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS *603603 PHOSPHOLIPASE A2, GROUP X; PLA2G10 *600841 PROSTATIC CARCINOMA TUMOR-INDUCING GENE 1 *603458 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 3; ELAVL3 *603114 S100 CALCIUM-BINDING PROTEIN A11; S100A11 *603089 BRCA1-ASSOCIATED PROTEIN 1; BAP1 *600527 EPHRIN B2; EFNB2 *208150 PENA-SHOKEIR SYNDROME, TYPE I *243800 JOHANSON-BLIZZARD SYNDROME; JBS *600337 BRADYKININ RECEPTOR B1; BDKRB1 *188060 THROMBOSPONDIN I; THBS1 *602509 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4 242680 IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA *242650 IMMOTILE CILIA SYNDROME 1; ICS1 *602334 EPITHELIAL MEMBRANE PROTEIN 2; EMP2 *601988 LIM DOMAIN KINASE 2; LIMK2 *309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE *601835 CHEMOKINE (C-C) RECEPTOR 6; CMKBR6 *601733 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2 *300145 X-PROLYL AMINOPEPTIDASE 2; XPNPEP2 *190315 SOLUTE CARRIER FAMILY 20, MEMBER 3; SLC20A3 *601923 SEMAPHORIN IV 227850 FANCONI-LIKE SYNDROME *601361 GROWTH/DIFFERENTIATION FACTOR 10; GDF10 *601033 LAMININ, ALPHA-5; LAMA5 267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA *192020 UTEROGLOBIN; UGB *192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1 603165 ECZEMA, ATOPIC *603366 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12; TNFRSF12 *600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1; DYRK1 279000 YOUNG SYNDROME *602130 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3 *602294 HEPATOCYTE NUCLEAR FACTOR 3-ALPHA; HNF3A 192350 VATER ASSOCIATION *192500 LONG QT SYNDROME, TYPE 1 *192974 INTEGRIN, ALPHA-2; ITGA2 193670 WHIM SYNDROME *156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1 154705 MARFAN-LIKE CONNECTIVE TISSUE DISORDER 208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES *154870 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP 202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS 211400 BRONCHIECTASIS *152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5 *157145 MICROSEMINOPROTEIN, BETA; MSMB *218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY *156790 MICROFIBRIL-ASSOCIATED PROTEIN 2; MFAP2 *153450 LYSOZYME; LYZ *150292 LAMININ, GAMMA-2; LAMC2 *190930 TROPOMODULIN; TMOD #220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF *150240 LAMININ, BETA-1; LAMB1 *191155 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 1; TM4SF1 *158070 MONOCLONAL ANTIBODY 4F2, ANTIGEN DEFINED BY; MDU1 *160994 N-ACETYLGLUCOSAMINE RECEPTOR, THYROID *162341 NEUROMEDIN B RECEPTOR; NMBR *162643 NEUROPEPTIDE Y RECEPTOR Y3; NPY3R #187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT *233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM I *163729 NITRIC OXIDE SYNTHASE 3; NOS3 *164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2 *153200 LYMPHEDEMA, HEREDITARY II *147561 INTEGRIN, BETA-5; ITGB5 *188595 THYROTROPH EMBRYONIC FACTOR; TEF *239500 HYPERPROLINEMIA, TYPE I *190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; FES *164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1 *189971 E2F TRANSCRIPTION FACTOR 1; E2F1 187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD *187520 TETRANECTIN; TNA 208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES 245650 LARSEN-LIKE SYNDROME, LETHAL TYPE *246400 LETTERER-SIWE DISEASE *186854 SOLUTE CARRIER FAMILY 6, MEMBER 6; SLC6A6 *164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A 210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION *185430 CLUSTERIN; CLU *182810 SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1 #256450 NESIDIOBLASTOSIS OF PANCREAS *256520 NEU-LAXOVA SYNDROME; NLS *165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3 *210900 BLOOM SYNDROME; BLM *259450 BRUCK SYNDROME *151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL #145000 HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY; FIHP #264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1 #144700 RENAL CELL CARCINOMA 1; RCC1 265300 PULMONARY CYSTIC LYMPHANGIECTASIS 265430 PULMONARY HYPOPLASIA *169615 DESMOGLEIN 3; DSG3 *142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1 *142570 HEXOKINASE 3; HK3 *182454 SOMATOSTATIN RECEPTOR 4; SSTR4 *150570 LECTIN, BETA-GALACTOSIDE BINDING, SOLUBLE, 1; LGALS1 274210 THYMIC APLASIA WITH FETAL DEATH *138385 GLUTATHIONE S-TRANSFERASE, MU-5; GSTM5 *171050 P-GLYCOPROTEIN 1; PGY1 *219800 CYSTINOSIS, NEPHROPATHIC; CTNS *137290 MEMBRANE COMPONENT, CHROMOSOME 1, SURFACE MARKER 1; M1S1 *136430 FOLATE RECEPTOR 1, ADULT; FOLR1 *300094 PROTEIN KINASE C, IOTA FORM; PRKCI *227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC *300098 MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2 *300102 GS2 GENE; DXS1283E *300103 APICAL PROTEIN, XENOPUS LAEVIS-LIKE; APXL *136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1 *300135 ATP-BINDING CASSETTE 7; ABC7 *300141 PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C *228000 FARBER LIPOGRANULOMATOSIS *300159 THYMOSIN, BETA 4, X CHROMOSOME; TMSB4X *300167 HEPHAESTIN *182138 SOLUTE CARRIER FAMILY 6, MEMBER 4; SLC6A4 *148180 FIBROBLAST GROWTH FACTOR 7; FGF7 *302650 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1; CDR1 *182098 SECRETIN RECEPTOR; SCTR 233450 GOODPASTURE SYNDROME *306955 HETEROTAXY, VISCERAL, X-LINKED *147870 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2 233650 GRANULOMATOUS DISEASE DUE TO COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS *308240 LYMPHOPROLIFERATIVE SYNDROME *172250 PHOSPHOGLYCERATE MUTASE 1; PGAM1 *311040 ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1 *134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6 *176847 PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10 *171640 PHOSPHATASE, ACID, TYPE 5, TARTRATE-RESISTANT; ACP5 *600010 INSULINOMA-ASSOCIATED 1; IA1 *180660 POLYMERASE II, RNA, POLYPEPTIDE A; POLR2A *172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A *178642 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2 234820 HEMANGIOPERICYTOMA, MALIGNANT 234810 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY *176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1 *175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC *238600 HYPERLIPOPROTEINEMIA, TYPE I *600185 BREAST CANCER 2, EARLY-ONSET; BRCA2 *600212 FATTY ACID SYNTHASE; FASN *131242 ENDOTHELIN 3; EDN3 *600241 G PROTEIN-COUPLED RECEPTOR 3; GPR3 *600267 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13 *600277 INHIBITOR OF DNA BINDING 3; ID3 *600280 NUCLEOTIDE-BINDING PROTEIN; NBP 241800 HYPOTHALAMIC HAMARTOMAS *600299 PERICENTRIOLAR MATERIAL 1; PCM1 *600308 AQUAPORIN 4; AQP4 *600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD 147540 INSECT STINGS, HYPERSENSITIVITY TO *600346 ZINC FINGER PROTEIN 144; ZNF144 *600390 UPSTREAM STIMULATORY FACTOR 2; USF2 *600401 ETS-RELATED PROTEIN; ERP *600409 PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR, DELTA; PPARD *600442 AQUAPORIN 5; AQP5 *147370 INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR; IGF1R *600466 ALDEHYDE DEHYDROGENASE 7; ALDH7 *131240 ENDOTHELIN 1; EDN1 *176705 PROHIBITIN; PHB *178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC *600535 MESENCHYME HOMEO BOX 2; MEOX2 *600551 G PROTEIN-COUPLED RECEPTOR 4; GPR4 *600579 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, O; PTPRO *600592 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 7; MCM7 130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM *252800 MUCOPOLYSACCHARIDOSIS TYPE I; MPS I *178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1 178550 PULMONARY HEMOSIDEROSIS *128100 DYSTONIA 1, TORSION; DYT1 *600641 SULFOTRANSFERASE, MONOAMINE-PREFERRING; STM *600667 FRIZZLED, DROSOPHILA, HOMOLOG OF, 2; FZD2 *600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2 *178600 PULMONARY HYPERTENSION, PRIMARY; PPH1 *600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1 *257200 NIEMANN-PICK DISEASE *600722 PALMITOYL-PROTEIN THIOESTERASE; PPT *256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 *600747 T-BOX 2; TBX2 *256700 NEUROBLASTOMA; NB *600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA; SCNN1B *600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA; SCNN1G *600782 SYNAPTOTAGMIN 5; SYT5 *600784 GRANZYME K; GZMK *600818 TRANSGELIN; TAGLN *600834 ZINC FINGER PROTEIN 165; ZNF165 *176785 PROLYLCARBOXYPEPTIDASE; PRCP *259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE *125305 ERYTHROCYTE MEMBRANE PROTEIN BAND 49; EPB49 *600866 PROGRAMMED CELL DEATH 2; PDCD2 600880 MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA *600979 LYMPHOTOXIN B RECEPTOR; LTBR *124070 CYTOCHROME P450, SUBFAMILY IIF, POLYPEPTIDE 1; CYP2F1 *601030 RIBONUCLEASE A FAMILY, 4; RNASE4 *139185 GROWTH ARREST-SPECIFIC 1; GAS1 *601047 CAVEOLIN 1; CAV1 *601060 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 2; PDNP2 *123900 VILLIN 2; VIL2 *601099 SRC-LIKE ADAPTOR; SLA *601106 BB1 GENE *601119 CLPP PROTEASE *123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8 *122560 CORTICOTROPIN-RELEASING HORMONE; CRH *601157 DEFENSIN, ALPHA 4; DEFA4 *122500 CORTICOSTEROID-BINDING GLOBULIN; CBG 601160 LISSENCEPHALY SYNDROME TYPE III 601168 DIHYDROPYRIMIDINASE-LIKE 3; DPYSL3 601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA *601192 PHOSPHOLIPASE A2, GROUP V; PLA2G5 601200 PLEUROPULMONARY BLASTOMA *601241 HISTONE DEACETYLASE 1; HDAC1 *120325 COLLAGEN, TYPE XV, ALPHA-1; COL15A1 #118450 ALAGILLE SYNDROME; AGS *277900 WILSON DISEASE *601300 ACTIVIN A RECEPTOR, TYPE IB; ACVR1B *601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH 601331 RENAL DYSPLASIA, DIFFUSE CYSTIC *117340 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 2; CDR2 601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY *116947 CELL DIVISION CYCLE 25A; CDC25A *300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1 *116810 CATHEPSIN B; CTSB *601365 DISHEVELLED 1; DVL1 *601385 PUTATIVE PROSTATE CANCER TUMOR SUPPRESSOR *601404 G PROTEIN-COUPLED RECEPTOR, OVARIAN CANCER, 1; OGR1 *601425 TRANSCRIPTION ELONGATION FACTOR A (SII), 1; TCEA1 *601447 UBIQUITIN-SPECIFIC PROTEASE 5; USP5 *601460 SOLUTE CARRIER FAMILY 21, MEMBER 2; SLC21A2 *601476 LYSOSOMAL-ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5 *601485 SYNTAXIN 1B; STX1B *301500 ANGIOKERATOMA, DIFFUSE *601504 SEC14 (S. CEREVISIAE)-LIKE; SEC14L *116805 CATENIN, ALPHA-1; CTNNA1 *601524 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14 *601526 CHONDROCYTE PROTEIN YKL39 *601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A #114500 CANCER OF COLON *601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4 *601591 PROTEIN KINASE, cGMP-DEPENDENT, TYPE II; PRKG2 *114290 CAMPOMELIC DYSPLASIA *601615 ATP-BINDING CASSETTE 3; ABC3 601618 SOX18, MOUSE, HOMOLOG OF *601620 T-BOX 5; TBX5 *601636 HYALURONAN SYNTHASE 2; HAS2 *601637 CYTOCHROME P450, 51; CYP51 *601656 GATA-BINDING PROTEIN 6; GATA6 *601685 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 2; RPS6KA2 *601697 PROTEASE INHIBITOR 8, OVALBUMIN TYPE; PI8 *601717 SYNTAXIN-BINDING PROTEIN 2; STXBP2 *601721 APOPTOSIS INHIBITOR 2; API2 *301870 BIGLYCAN; BGN *601799 PROTEASE INHIBITOR 9, OVALBUMIN TYPE; PI9 *303631 COLLAGEN, TYPE IV, ALPHA-6; COL4A6 *601807 MATRIX METALLOPROTEINASE 18; MMP18 601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS *305670 GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR *601914 PROLINE ARGININE-RICH END LEUCINE-RICH REPEAT PROTEIN; PRELP *176945 EPHRIN RECEPTOR EphA8; EPHA8 134780 FEMORAL-FACIAL SYNDROME; FFS *601956 GDNF FAMILY RECEPTOR ALPHA-2; GFRA2 *601968 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2B; WNT2B *601981 RIBONUCLEASE A FAMILY, 6; RNASE6 *114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-2/DELTA SUBUNIT; CACNA2 *133090 ERYTHROCYTE SURFACE PROTEIN BAND 7.2; EPB72 *601989 S100 CALCIUM-BINDING PROTEIN A13; S100A13 114190 CALCITONIN GENE-RELATED PEPTIDE RECEPTOR; CGRPR *602033 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE; EMAPL *602046 GLUCOSE-REGULATED PROTEIN, 58-KD; GRP58 *602047 PHOSPHODIESTERASE 3B, cGMP-INHIBITED; PDE3B *602053 CORE PROMOTER ELEMENT-BINDING PROTEIN; COPEB *114085 S100 CALCIUM-BINDING PROTEIN A10; S100A10 *602059 IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR *602100 PBX/KNOTTED 1 HOMEO BOX 1; PKNOX1 *602106 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 15; KCNJ15 *113995 C5a ANAPHYLATOXIN RECEPTOR; C5AR *602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1 *600022 PROSTAGLANDIN I2 RECEPTOR; PTGIR *602131 TUMOR-SUPPRESSING SUBTRANSFERABLE CANDIDATE 3; TSSC3 *602142 PHOSPHOLIPASE C, DELTA 1; PLCD1 602146 LIM HOMEO BOX PROTEIN 4 *602183 BAGPIPE HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1 *176914 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP1CC *113503 BRADYKININ RECEPTOR B2; BDKRB2 *600134 MELANOMA ASSOCIATED GENE 50; MG50; D2S448 *602245 GUANINE NUCLEOTIDE-BINDING PROTEIN GP1 *602248 MALIGNANT ATROPHIC PAPULOSIS 602253 GUT-ENRICHED KRUPPEL-LIKE FACTOR *600170 AQUAPORIN 3; AQP3 *602262 MATRIX METALLOPROTEINASE 16; MMP16 *602263 MATRIX METALLOPROTEINASE 19; MMP19 *602265 HUMAN ENHANCER OF FILAMENTATION 1 *602272 TRANSCRIPTION FACTOR 4; TCF4 *602282 G PROTEIN-COUPLED RECEPTOR, ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2 *602291 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 13; FKHL13 *600182 SOLUTE CARRIER FAMILY 7, MEMBER 5; SLC7A5 *602297 EPHRIN B3; EFNB3 *602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP *602326 RIBOSOMAL PROTEIN L23A; RPL23A *600284 ELEVEN NINETEEN LYSINE-RICH LEUKEMIA GENE *602335 EPITHELIAL MEMBRANE PROTEIN 3; EMP3 *602336 NEUROTROPHIC TYROSINE KINASE, RECEPTOR-RELATED 1; NTRKR1 *602365 CATHEPSIN C; CTSC *602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1 *602384 PHOSPHOLIPASE D2, PHOSPHATIDYLCHOLINE-SPECIFIC *602396 ANNEXIN VIII; ANX8 *112265 BONE MORPHOGENETIC PROTEIN 5; BMP5 *602437 GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN; GCHFR *602441 CYTOKINE-INDUCIBLE SH2-CONTAINING PROTEIN; CISH *602449 A KINASE ANCHOR PROTEIN, 149-KD 602455 REGENERATION-ASSOCIATED SERPIN-1 *602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3 *602489 GAP-ASSOCIATED TYROSINE PHOSPHOPROTEIN, 62-KD *602494 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 23; SCYA23 *176888 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, MU; PTPRM *600447 ZIPPER PROTEIN KINASE; ZPK *602512 REGULATOR OF G PROTEIN SIGNALING 12; RGS12 *602513 REGULATOR OF G PROTEIN SIGNALING 14 *602517 REGULATOR OF G PROTEIN SIGNALING 7; RGS7 *602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7 *602525 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 2; PDK2 *110700 BLOOD GROUP--DUFFY SYSTEM; Fy 602564 EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION *602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1 *602607 SOLUTE CARRIER FAMILY 22, MEMBER 1; SLC22A1 *107323 ANTIQUITIN; ATQ1 *602692 GLIOMA PATHOGENESIS-RELATED PROTEIN *106165 ANGIOTENSIN RECEPTOR 1; AGTR1 *602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B *602746 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14 *602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 4; KCNN4 *602779 COAGULATION FACTOR II RECEPTOR-LIKE 3; F2RL3 *602835 GROWTH ARREST-SPECIFIC 2; GAS2 *602840 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 7; TNFSF7 *600613 NEUROBLASTOMA TUMOR SUPPRESSOR GENE DAN; D1S1733E *602883 SOLUTE CARRIER FAMILY 21, MEMBER 3; SLC21A3 *104610 AMILORIDE-BINDING PROTEIN 1; ABP1 *602909 CLAUDIN 4; CLDN4 *602910 CLAUDIN 3; CLDN3 *103720 ALCOHOL DEHYDROGENASE 2; ADH2 *602914 AQUAPORIN 9; AQP9 *602929 LOSS OF HETEROZYGOSITY, 11, CHROMOSOMAL REGION 2, GENE A; LOH11CR2A *602933 THYROID HORMONE RECEPTOR INTERACTOR 6; TRIP6 *602935 FATTY ACID AMIDE HYDROLASE; FAAH *602957 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 22; SCYA22 *602980 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 2; SRPK2 *602986 DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 2; DRG2 *602987 PHOSPHODIESTERASE 1C; PDE1C *603007 CADHERIN 6; CDH6 *603017 CADHERIN 17; CDH17 *603019 CADHERIN 18; CDH18 *603026 PLEOMORPHIC ADENOMA GENE 1; PLAG1 *103275 ADRENOMEDULLIN; ADM *603076 WHITE, DROSOPHILA, HOMOLOG OF *600623 KANGAI 1; KAI1 *102720 DIPEPTIDYLPEPTIDASE IV; DPP4 *600626 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3 BINDING PROTEIN; LGALS3BP *102700 ADENOSINE DEAMINASE; ADA *600690 T-CELL LEUKEMIA TRANSLOCATION-ASSOCIATED GENE; TCTA *603166 RAB8-INTERACTING PROTEIN; RAB8IP *603219 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2 *102680 ADDUCIN 1; ADD1 *603259 CANCER OSAKA THYROID ONCOGENE; COT *603271 PROTEIN-TYROSINE PHOSPHATASE D1 *603276 REGULATOR OF G PROTEIN SIGNALING 5; RGS5 102660 ADAMANTINOMA OF LONG BONES 603314 VERY LONG-CHAIN ACYL-CoA SYNTHETASE-RELATED PROTEIN *603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5 *102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1 *125597 DERMATOPONTIN; DPT *603408 FRIZZLED, DROSOPHILA, HOMOLOG OF, 1; FZD1 *603409 FRIZZLED, DROSOPHILA, HOMOLOG OF, 6; FZD6 *603410 FRIZZLED, DROSOPHILA, HOMOLOG OF, 7; FZD7 *603425 ADP-RIBOSYLATION FACTOR-LIKE 1; ARL1 *603430 ZINC FINGER PROTEIN 202; ZNF202 *603442 PROTEIN KINASE KKIAMRE *600749 CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE *100660 ALDEHYDE DEHYDROGENASE 3; ALDH3 *603517 B-CELL CLL/LYMPHOMA 10; BCL10 *603539 CATHEPSIN F; CTSF 270100 SITUS INVERSUS VISCERUM *100600 ACANTHOSIS NIGRICANS *603613 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C |
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