OMIM Update List for October, 2005

PubMed

Nucleotide

Protein

Genome

OMIM Update List for October, 2005

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October 31, 2005
New Entries:: 609692 WASP-INTERACTING PROTEIN-RELATED PROTEIN; 609693 CHROMOSOME 6 OPEN READING FRAME 27; C6ORF27
Changed Entries:: 147683 INTERLEUKIN 13; IL13; 147892 DEIODINASE, IODOTHYRONINE, TYPE I; DIO1; 148300 KERATOCONUS 1; KTCN1; 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 184429 SRY-BOX 2; SOX2; 191160 TUMOR NECROSIS FACTOR; TNF; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 206900 ANOPHTHALMOS, TRUE OR PRIMARY; 227650 FANCONI ANEMIA; FA; 252500 MUCOLIPIDOSIS II; 252600 MUCOLIPIDOSIS IIIA; 256000 LEIGH SYNDROME; LS; 313430 SRY-BOX 3; SOX3; 601246 CHROMATIN ASSEMBLY FACTOR I, SUBUNIT A; CHAF1A; 602704 MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2; 604655 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 14; MAP3K14; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB; 608306 TRANSCRIPTION FACTOR Sp8; SP8; 609278 IZUMO SPERM-EGG FUSION PROTEIN 1; IZUMO1; Clinical Synopsis for 301790 ATAXIA-DEAFNESS SYNDROME, X-LINKED; Clinical Synopsis for 608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT

October 28, 2005
New Entries:: 609684 MAL PROTEOLIPID PROTEIN 2; MAL2; 609686 CITRATE LYASE BETA-LIKE; CLYBL; 609690 PHENYLALANINE-tRNA SYNTHETASE-LIKE, BETA SUBUNIT; FARSLB
Changed Entries:: 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 123831 CYCLIN-DEPENDENT KINASE 5; CDK5; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 300393 G PROTEIN-COUPLED RECEPTOR 101; GPR101; 313700 ANDROGEN RECEPTOR; AR; 602918 PHENYLALANINE-tRNA SYNTHETASE-LIKE, ALPHA SUBUNIT; FARSLA; 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC; 609684 MAL PROTEOLIPID PROTEIN 2; MAL2

October 27, 2005
New Entries:: 609685 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7-LIKE; CDCA7L; 609687 MICRO RNA 196A2; MIRN196A2; 609688 MICRO RNA 196B; MIRN196B; 609689 CENTROSOMAL PROTEIN 2; CEP2; 609691 FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 3; FHOD3
Changed Entries:: 107265 CD19 ANTIGEN; CD19; 112203 CD80 ANTIGEN; CD80; 123829 CYCLIN-DEPENDENT KINASE 4; CDK4; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 139250 GROWTH HORMONE 1; GH1; 139320 GNAS COMPLEX LOCUS; GNAS; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 147620 INTERLEUKIN 6; IL6; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 147796 JANUS KINASE 2; JAK2; 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1; 151445 LEUKOCYTE ANTIGEN CD23; CD23; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B; 191525 URACIL-DNA GLYCOSYLASE; UNG; 194355 X BOX-BINDING PROTEIN 1; XBP1; 208900 ATAXIA-TELANGIECTASIA; AT; 219700 CYSTIC FIBROSIS; CF; 229200 EHLERS-DANLOS SYNDROME, TYPE VIB; 235200 HEMOCHROMATOSIS; HFE; 275400 TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION; 300214 PLEXIN B3; PLXNB3; 300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1; 300386 CD40 LIGAND; CD40LG; 300530 KAWASAKI DISEASE; 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1; 600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14; 601064 ZINC FINGER PROTEIN 36, C3H TYPE-LIKE 1; ZFP36L1; 601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 603734 INTERFERON REGULATORY FACTOR 3; IRF3; 604895 T-BOX 21; TBX21; 605085 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1; TREM1; 605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 605565 RESISTIN; RETN; 605764 TRAF- AND TNF RECEPTOR-ASSOCIATED PROTEIN; 606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; 606881 FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 1; FHOD1; 607465 CODANIN 1; CDAN1; 608004 INTERLEUKIN 1-INDUCED NUCLEAR ANKYRIN REPEAT PROTEIN; 608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; 608632 MICRO RNA 196A1; MIRN196A1; 609048 MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3; 609687 MICRO RNA 196A2; MIRN196A2; 609688 MICRO RNA 196B; MIRN196B

October 26, 2005
Changed Entries:: 103880 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B1; AKR1B1; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 108300 STICKLER SYNDROME, TYPE I; STL1; 109691 BETA-3-ADRENERGIC RECEPTOR; ADRB3; 110300 ABO BLOOD GROUP; ABO; 116806 CATENIN, BETA-1; CTNNB1; 120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2; 120260 COLLAGEN, TYPE IX, ALPHA-2; COL9A2; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 168461 CYCLIN D1; CCND1; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 227500 FACTOR VII DEFICIENCY; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 235200 HEMOCHROMATOSIS; HFE; 236670 WALKER-WARBURG SYNDROME; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 256700 NEUROBLASTOMA; 264900 PTA DEFICIENCY; 265000 PTERYGIUM SYNDROME; 304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY; 600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600870 G PROTEIN-COUPLED RECEPTOR KINASE 5; GPRK5; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601556 ATAXIN 1; ATXN1; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 602055 INSULIN-INDUCED GENE 1; INSIG1; 602491 HYPERLIPIDEMIA, COMBINED, 1; 602812 HISTONE 1, H3C; HIST1H3C; 603466 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 1; ELAVL1; 604146 SYNAPTOTAGMIN 7; SYT7; 604277 SPG4 GENE; SPG4; 604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A; 605051 CANNABINOID RECEPTOR 2; CNR2; 609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2; 609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1; Clinical Synopsis for 211350 KYPHOMELIC DYSPLASIA; Clinical Synopsis for 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND; Clinical Synopsis for 609029 EMANUEL SYNDROME

October 25, 2005
New Entries:: 300561 SLIT- AND NTRK-LIKE FAMILY, MEMBER 2; SLITRK2; 300562 SLIT- AND NTRK-LIKE FAMILY, MEMBER 4; SLITRK4; 609677 AMPLIFIED IN OSTEOSARCOMA 9; 609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1; 609679 SLIT- AND NTRK-LIKE FAMILY, MEMBER 3; SLITRK3; 609680 SLIT- AND NTRK-LIKE FAMILY, MEMBER 5; SLITRK5; 609681 SLIT- AND NTRK-LIKE FAMILY, MEMBER 6; SLITRK6
Changed Entries:: 100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; 106600 HYPODONTIA, AUTOSOMAL DOMINANT; HYD1; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; 156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; 164160 LEPTIN; LEP; 165490 MOVED TO 165500; 165500 OPTIC ATROPHY 1; OPA1; 245300 KURU, SUSCEPTIBILITY TO; 300561 SLIT- AND NTRK-LIKE FAMILY, MEMBER 2; SLITRK2; 300562 SLIT- AND NTRK-LIKE FAMILY, MEMBER 4; SLITRK4; 516060 ATP SYNTHASE 6; MTATP6; 590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 602533 ONCOGENE DJ1; 602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB; 603671 ACROMELIC FRONTONASAL DYSOSTOSIS; 605290 OPA1 GENE; OPA1; 606941 AL9, SACCHAROMYCES CEREVISIAE, HOMOLOG OF; ALG9; 609628 MAJEED SYNDROME; 609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1

October 24, 2005
New Entries:: 300560 PHD FINGER PROTEIN 8; PHF8; 609674 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 1; ESCO1; 609675 SCLEROSTIN DOMAIN-CONTAINING PROTEIN 1; SOSTDC1; 609676 VIRUS-INDUCED SIGNALING ADAPTOR; Clinical Synopsis for 300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS; Clinical Synopsis for 300559 MUSCLE GLYCOGENOSIS, X-LINKED; Clinical Synopsis for 500007 CYCLIC VOMITING SYNDROME; CVS; Clinical Synopsis for 609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1; Clinical Synopsis for 609056 AMISH INFANTILE EPILEPSY SYNDROME; Clinical Synopsis for 609070 HEMOGLOBIN, HIGH OXYGEN SATURATION OF; Clinical Synopsis for 609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23; Clinical Synopsis for 609609 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; Clinical Synopsis for 609625 CHROMOSOME 10q DELETION SYNDROME; Clinical Synopsis for 609636 ALZHEIMER DISEASE 10; Clinical Synopsis for 609646 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 42; DFNB42; Clinical Synopsis for 609647 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 46; DFNB46; Clinical Synopsis for 609649 TRICHILEMMAL CYST 1; TRICY1
Changed Entries:: 114290 CAMPOMELIC DYSPLASIA; 120260 COLLAGEN, TYPE IX, ALPHA-2; COL9A2; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 133170 ERYTHROPOIETIN; EPO; 145000 HYPERPARATHYROIDISM 1; HRPT1; 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2; 176270 PRADER-WILLI SYNDROME; PWS; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 218040 COSTELLO SYNDROME; 219700 CYSTIC FIBROSIS; CF; 222000 MOVED TO 125800; 236670 WALKER-WARBURG SYNDROME; 239000 PAGET DISEASE, JUVENILE; 263800 GITELMAN SYNDROME; 277420 MOVED TO 277440; 300008 CHLORIDE CHANNEL 5; CLCN5; 300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS; 300560 PHD FINGER PROTEIN 8; PHF8; 307810 MOVED TO 307800 AND 300550; 308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; 309660 MOVED TO 300257; 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600165 NANOPHTHALMOS 1; NNO1; 600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 601378 CRISPONI SYNDROME; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 604277 SPG4 GENE; SPG4; 605067 TRICUSPID ATRESIA; 605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH; 607134 SPECIFIC LANGUAGE IMPAIRMENT 3; SLI3; 609353 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 2; ESCO2; 609569 PHOTOPAROXYSMAL RESPONSE; PPR; 609628 MAJEED SYNDROME; 609672 SEC15-LIKE 1; SEC15L1; 609673 PLATELET-DERIVED GROWTH FACTOR D; PDGFD; Clinical Synopsis for 222000 MOVED TO 125800; Clinical Synopsis for 261000 INTRINSIC FACTOR DEFICIENCY; IFD; Clinical Synopsis for 274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME; Clinical Synopsis for 277420 MOVED TO 277440; Clinical Synopsis for 301790 ATAXIA-DEAFNESS SYNDROME, X-LINKED; Clinical Synopsis for 307810 MOVED TO 307800 AND 300550; Clinical Synopsis for 309660 MOVED TO 300257; Clinical Synopsis for 608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT

October 21, 2005
New Entries:: 609671 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 3; STEAP3; 609672 SEC15-LIKE 1; SEC15L1; 609673 PLATELET-DERIVED GROWTH FACTOR D; PDGFD; Clinical Synopsis for 602641 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 1; EIF4A1; Clinical Synopsis for 603641 NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1; 117139 CENTROMERIC PROTEIN A; CENPA; 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E; 129400 RAPP-HODGKIN SYNDROME; RHS; 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 143100 HUNTINGTON DISEASE; HD; 147138 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 2; MS4A2; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 147720 INTERLEUKIN 1-BETA; IL1B; 147760 INTERLEUKIN 1-ALPHA; IL1A; 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; 191160 TUMOR NECROSIS FACTOR; TNF; 208900 ATAXIA-TELANGIECTASIA; AT; 224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; 229850 FRYNS SYNDROME; FRNS; 264900 PTA DEFICIENCY; 300166 OCULOFACIOCARDIODENTAL SYNDROME; 300485 BCL6 COREPRESSOR; BCOR; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 313480 TaqI POLYMORPHISM; TAQ1; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; 600763 TUMOR PROTEIN, TRANSLATIONALLY-CONTROLLED 1; TPT1; 602109 MATRILIN 3; MATN3; 602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602448 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 605565 RESISTIN; RETN; 606060 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 12; DNAJC12; 606702 PKHD1 GENE; PKHD1; 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5; 607465 CODANIN 1; CDAN1; 608115 OVARIAN HYPERSTIMULATION SYNDROME; 608636 AUTISM, SUSCEPTIBILITY TO, 1; 609048 MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3; 609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA; 609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES; 609628 MAJEED SYNDROME; Clinical Synopsis for 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS; Clinical Synopsis for 143200 HYALOIDEORETINAL DEGENERATION OF WAGNER; Clinical Synopsis for 157950 MOLAR I REINCLUSION; Clinical Synopsis for 184500 STEATOCYSTOMA MULTIPLEX; Clinical Synopsis for 209850 AUTISM; Clinical Synopsis for 211350 KYPHOMELIC DYSPLASIA; Clinical Synopsis for 313480 TaqI POLYMORPHISM; TAQ1; Clinical Synopsis for 603541 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE F; SNRPF; Clinical Synopsis for 608636 AUTISM, SUSCEPTIBILITY TO, 1

October 20, 2005
New Entries:: 609667 T-CELL ACTIVATION GTPase-ACTIVATING PROTEIN; TAGAP; 609668 T-CELL ACTIVATION PROTEIN PHOSPHATASE 2C; 609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36; 609670 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9
Changed Entries:: 103780 ALCOHOLISM; 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2; 123829 CYCLIN-DEPENDENT KINASE 4; CDK4; 126450 DOPAMINE RECEPTOR D2; DRD2; 143100 HUNTINGTON DISEASE; HD; 147183 RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA,; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 152950 LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME; 153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA; 155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1; 163890 SYNUCLEIN, ALPHA; SNCA; 174763 POLYMERASE, DNA, GAMMA; POLG; 179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC; 251270 MICROCEPHALY WITH CHORIORETINOPATHY; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 256500 NETHERTON SYNDROME; NETH; 300535 OCRL GENE; OCRL; 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL; 500007 CYCLIC VOMITING SYNDROME; CVS; 600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601638 ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 2; ARFIP2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602671 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1; 602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5; 605033 COMPLEXIN 2; CPLX2; 605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1; 605928 ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 1; ARFIP1; 606923 G PROTEIN-COUPLED RECEPTOR 81; GPR81; 607139 FANCA GENE; FANCA; 607505 PAS DOMAIN-CONTAINING SERINE/THREONINE KINASE; PASK; 607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5; 609570 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8

October 19, 2005
New Entries:: 300559 MUSCLE GLYCOGENOSIS, X-LINKED; 500007 CYCLIC VOMITING SYNDROME; CVS; 609625 CHROMOSOME 10q DELETION SYNDROME; 609656 BONE SIZE QUANTITATIVE TRAIT LOCUS 1; 609657 BONE SIZE QUANTITATIVE TRAIT LOCUS 2; 609661 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 7;; 609662 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 10;; 609663 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 9;; 609664 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 11;; 609665 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 14;; 609666 TWO-PORE SEGMENT CHANNEL 1; TPCN1
Changed Entries:: 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1; 147760 INTERLEUKIN 1-ALPHA; IL1A; 162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA; 163890 SYNUCLEIN, ALPHA; SNCA; 167409 PAIRED BOX GENE 2; PAX2; 194080 DENYS-DRASH SYNDROME; 201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME; 241090 HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA; 254780 MYOCLONIC EPILEPSY OF LAFORA; 261000 INTRINSIC FACTOR DEFICIENCY; IFD; 261100 MEGALOBLASTIC ANEMIA 1; MGA1; 263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION; 311870 PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1; 516050 CYTOCHROME c OXIDASE III; MTCO3; 516060 ATP SYNTHASE 6; MTATP6; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600992 ANOPHTHALMIA/MICROPHTHALMIA AND ESOPHAGEAL ATRESIA; AMEA; 604061 SEPTIN 9; SEPT9; 604333 WD REPEAT-CONTAINING PROTEIN 39; WDR39; 606416 CIAS1 GENE; CIAS1; 607102 WILMS TUMOR 1 GENE; WT1; 607566 EPM2A GENE; EPM2A; 608100 HIRA-INTERACTING PROTEIN 5; HIRIP5; 609342 GASTRIC INTRINSIC FACTOR; GIF; 609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23

October 18, 2005
New Entries:: 609646 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 42; DFNB42; 609647 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 46; DFNB46; 609649 TRICHILEMMAL CYST 1; TRICY1; 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS; 609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS; 609658 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 5;; 609659 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 8;; 609660 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 13;; Clinical Synopsis for 603541 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE F; SNRPF; Clinical Synopsis for 609029 EMANUEL SYNDROME; Clinical Synopsis for 609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES
Changed Entries:: 142900 HOLT-ORAM SYNDROME; HOS; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR; 154700 MARFAN SYNDROME; MFS; 163890 SYNUCLEIN, ALPHA; SNCA; 164860 MET PROTOONCOGENE; MET; 165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG;; 168600 PARKINSON DISEASE; PD; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY; 209850 AUTISM; 217100 CONSTRICTING BANDS, CONGENITAL; 256700 NEUROBLASTOMA; 274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300488 MENOPAUSE, NATURAL, AGE AT; 301790 ATAXIA-DEAFNESS SYNDROME, X-LINKED; 302500 CEREBELLAR ATAXIA 2; CLA2; 600946 GROWTH HORMONE RECEPTOR; GHR; 601559 STUVE-WIEDEMANN SYNDROME; 602652 KALLIKREIN 6; KLK6; 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS; 603641 NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT; 609029 EMANUEL SYNDROME; 609056 AMISH INFANTILE EPILEPSY SYNDROME; 609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES; 609628 MAJEED SYNDROME; 609644 FANCM GENE; FANCM; 609645 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 4;; Clinical Synopsis for 101000 NEUROFIBROMATOSIS, TYPE II; NF2; Clinical Synopsis for 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Clinical Synopsis for 129400 RAPP-HODGKIN SYNDROME; RHS; Clinical Synopsis for 261100 MEGALOBLASTIC ANEMIA 1; MGA1; Clinical Synopsis for 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; Clinical Synopsis for 607426 COENZYME Q10 DEFICIENCY

October 17, 2005
New Entries:: 609653 MYC-INDUCED MITOCHONDRIAL PROTEIN; Clinical Synopsis for 300558 MENTAL RETARDATION, X-LINKED 30; MRX30; Clinical Synopsis for 609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN
Changed Entries:: 115150 CARDIOFACIOCUTANEOUS SYNDROME; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 131310 ENGRAILED 2; EN2; 142340 HERNIA, CONGENITAL DIAPHRAGMATIC; HCD; 159440 MYELIN PROTEIN ZERO; MPZ; 168600 PARKINSON DISEASE; PD; 170280 PERFORIN 1; PRF1; 188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY; 209850 AUTISM; 219700 CYSTIC FIBROSIS; CF; 235000 HEMIHYPERTROPHY; 274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME; 277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE; 310600 NORRIE DISEASE; NDP; 312750 RETT SYNDROME; RTT; 590100 TRANSFER RNA, MITOCHONDRIAL, TYROSINE; MTTY; 601378 CRISPONI SYNDROME; 601769 VITAMIN D RECEPTOR; VDR; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 604061 SEPTIN 9; SEPT9; 604672 CD209 ANTIGEN; CD209; 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL; 605872 CD209 ANTIGEN-LIKE; CD209L; 606847 TCOF1 GENE; 608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT; 608636 AUTISM, SUSCEPTIBILITY TO, 1; 609070 HEMOGLOBIN, HIGH OXYGEN SATURATION OF; 609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; 609628 MAJEED SYNDROME; 609636 ALZHEIMER DISEASE 10; 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; Clinical Synopsis for 135500 ZIMMERMANN-LABAND SYNDROME; ZLS; Clinical Synopsis for 148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC; Clinical Synopsis for 148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL; Clinical Synopsis for 180870 RUVALCABA SYNDROME; Clinical Synopsis for 192430 VELOCARDIOFACIAL SYNDROME; Clinical Synopsis for 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD; Clinical Synopsis for 605361 SPINOCEREBELLAR ATAXIA 14; SCA14

October 14, 2005
New Entries:: 609651 GLYCOPROTEIN HORMONE, ALPHA-2; GPHA2; 609652 GLYCOPROTEIN HORMONE, BETA-5; GPHB5
Changed Entries:: 102200 ACROMEGALY; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 109535 CD40 ANTIGEN; CD40; 113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3; 120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1; 122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 142955 HOMEOBOX A1; HOXA1; 142995 H.20-LIKE HOMEOBOX 1; HLX1; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 173510 CD36 ANTIGEN; CD36; 178990 MATRIX METALLOPROTEINASE 7; MMP7; 182455 SOMATOSTATIN RECEPTOR 5; SSTR5; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 205400 TANGIER DISEASE; TGD; 209900 BARDET-BIEDL SYNDROME; BBS; 214500 CHEDIAK-HIGASHI SYNDROME; CHS; 218040 COSTELLO SYNDROME; 245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS; 262890 SCOTT SYNDROME; 273750 THREE M SYNDROME; 274230 THYMOMA, FAMILIAL; 274260 MOVED TO 274230; 276700 TYROSINEMIA, TYPE I; 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS; 300386 CD40 LIGAND; CD40LG; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A; 600533 VANG-LIKE 2; VANGL2; 600916 INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD; INPP4A; 601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C; 601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABSD; 601546 PROSPERO-RELATED HOMEOBOX 1; PROX1; 604045 SHK1 KINASE-BINDING PROTEIN 1, S. POMBE, HOMOLOG OF; SKB1; 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL; 605906 LIM DOMAIN-BINDING 3; LDB3; 608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1; 608783 SET AND MYND DOMAIN-CONTAINING PROTEIN 3; SMYD3; 609577 CULLIN 7; CUL7; 609628 MAJEED SYNDROME

October 13, 2005
New Entries:: 609650 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 6;
Changed Entries:: 102200 ACROMEGALY; 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 160730 MYOSIN, HEAVY CHAIN 1, SKELETAL MUSCLE, ADULT; MYH1; 188060 THROMBOSPONDIN I; THBS1; 189909 TRANSCRIPTION FACTOR 8; TCF8; 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC; 278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF; 601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP; 601415 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 2; MYBL2; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2; 602180 SIGNAL-INDUCED PROLIFERATION-ASSOCIATED GENE 1; SIPA1; 603831 PDZ DOMAIN-CONTAINING 1; PDZK1; 604980 GTPase-ACTIVATING PROTEIN, RAC, 1; RACGAP1; 607095 ANAUXETIC DYSPLASIA; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3; Clinical Synopsis for 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS; Clinical Synopsis for 166750 OTODENTAL DYSPLASIA; Clinical Synopsis for 180900 RUTHERFURD SYNDROME; Clinical Synopsis for 211350 KYPHOMELIC DYSPLASIA

October 12, 2005
New Entries:: 609648 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 12;; Clinical Synopsis for 602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES; Clinical Synopsis for 609197 GLUCOCORTICOID DEFICIENCY 3
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1; 121360 CORE-BINDING FACTOR, BETA SUBUNIT; CBFB; 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY; 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A; 136533 FORKHEAD BOX O1A; FOXO1A; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1; 150330 LAMIN A/C; LMNA; 156565 N-@METHYLPURINE DNA GLYCOSYLASE; MPG; 160900 DYSTROPHIA MYOTONICA 1; 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 167040 OXYSTEROL-BINDING PROTEIN; OSBP; 173510 CD36 ANTIGEN; CD36; 174763 POLYMERASE, DNA, GAMMA; POLG; 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 191170 TUMOR PROTEIN p53; TP53; 192430 VELOCARDIOFACIAL SYNDROME; 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;; 230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I; 236792 L-2-HYDROXYGLUTARIC ACIDURIA; 245200 KRABBE DISEASE; 260350 PANCREATIC CARCINOMA; 262890 SCOTT SYNDROME; 265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL; 268800 SANDHOFF DISEASE; 300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7; 300166 OCULOFACIOCARDIODENTAL SYNDROME; 300485 BCL6 COREPRESSOR; BCOR; 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST; 600709 ISOLEUCYL-tRNA SYNTHETASE; IARS; 600946 GROWTH HORMONE RECEPTOR; GHR; 601179 RAS-RELATED NUCLEAR PROTEIN; RAN; 601241 HISTONE DEACETYLASE 1; HDAC1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601559 STUVE-WIEDEMANN SYNDROME; 601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D; 602109 MATRILIN 3; MATN3; 602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G; 602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 602738 KARYOPHERIN BETA-1; KPNB1; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603498 SPHINGOMYELIN PHOSPHODIESTERASE 2, NEUTRAL MEMBRANE; SMPD2; 603501 POLY(ADP-RIBOSE) GLYCOHYDROLASE; PARG; 603582 TOPOISOMERASE, DNA, III, BETA; TOP3B; 603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L; 604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP; 604479 SIRTUIN 1; SIRT1; 605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2; 605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3; 605899 GLYCINE ENCEPHALOPATHY; GCE; 605918 SPONDIN 2; SPON2; 606920 LAG1, S. CEREVISIAE, HOMOLOG OF, 2; LASS2; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 607003 THYMIC STROMAL LYMPHOPOIETIN; 607623 NPC1 GENE; NPC1; 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY; 608457 CHROMOBOX HOMOLOG 7; CBX7; 608864 OROFACIAL CLEFT 6; 609197 GLUCOCORTICOID DEFICIENCY 3; 609280 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 4; EIF2AK4; 609628 MAJEED SYNDROME; 609629 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT; Clinical Synopsis for 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY; Clinical Synopsis for 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;; Clinical Synopsis for 228560 FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES; Clinical Synopsis for 230740 GAPO SYNDROME; Clinical Synopsis for 236792 L-2-HYDROXYGLUTARIC ACIDURIA; Clinical Synopsis for 252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA; Clinical Synopsis for 264800 PSEUDOXANTHOMA ELASTICUM; PXE; Clinical Synopsis for 310400 MYOTUBULAR MYOPATHY 1; MTM1; Clinical Synopsis for 601559 STUVE-WIEDEMANN SYNDROME; Clinical Synopsis for 602088 NEPHRONOPHTHISIS 2; NPHP2; Clinical Synopsis for 605899 GLYCINE ENCEPHALOPATHY; GCE

October 11, 2005
New Entries:: 609642 T-CELL ANTIGEN RECEPTOR, GAMMA SUBUNIT, ALTERNATE READING FRAME PROTEIN; 609643 NGUYEN SYNDROME; 609644 FANCM GENE; FANCM; 609645 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 4;
Changed Entries:: 100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; 109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 133520 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4; 147267 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 3; ITPR3; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 170280 PERFORIN 1; PRF1; 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; 186970 T-CELL ANTIGEN RECEPTOR, GAMMA SUBUNIT; TCRG; 219700 CYSTIC FIBROSIS; CF; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 224690 EAR, PATELLA, SHORT STATURE SYNDROME; 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD; 257920 OCULOPALATOSKELETAL SYNDROME; 265050 PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA; 300515 FANCB GENE; FANCB; 600144 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 2; ITPR2; 600185 BREAST CANCER 2 GENE; BRCA2; 600550 CATHEPSIN O; CTSO; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; 604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50; 605566 RETICULON 4 RECEPTOR; RTN4R; 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1; 606134 REV1, S. CEREVISIAE, HOMOLOG OF; REV1L; 606416 CIAS1 GENE; CIAS1; 606636 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 1;; 608166 SEMAPHORIN 3E; SEMA3E; 609364 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 2;; 609644 FANCM GENE; FANCM; Clinical Synopsis for 225400 EHLERS-DANLOS SYNDROME, TYPE VI; Clinical Synopsis for 601803 PALLISTER-KILLIAN SYNDROME; PKS

October 10, 2005
New Entries:: 609639 HEMOGLOBIN MU; 609640 FRIAS SYNDROME; 609641 HUMAN FETAL LUNG PROTEIN B5
Changed Entries:: 102565 FILAMIN C; FLNC; 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1; 122470 CORNELIA DE LANGE SYNDROME; CDLS; 126090 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE; PCBD; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 151290 BETA-1,3-GLUCURONYLTRANSFERASE 1; B3GAT1; 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1; 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS; 171650 ACID PHOSPHATASE 2, LYSOSOMAL; ACP2; 182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA-1 SUBUNIT; SCN2A1; 183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA; 184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE; 223100 HYPOLACTASIA, ADULT TYPE; 235730 MOWAT-WILSON SYNDROME; 252605 MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; 600535 MESENCHYME HOMEOBOX 2; MEOX2; 600721 D-2-@HYDROXYGLUTARIC ACIDURIA; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4; 605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B; 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1; 606374 BETA-1,3-GLUCURONYLTRANSFERASE 3; B3GAT3; 606375 MOVED TO 151290; 606376 CARBOHYDRATE SULFOTRANSFERASE 10; CHST10; 606593 LIG4 SYNDROME; 607199 INTERFERON REGULATORY FACTOR 6; IRF6; 607497 UDP-GLUCURONYLTRANSFERASE S; 607838 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB; 608461 COLLAGEN, TYPE XXVII, ALPHA-1; COL27A1; 609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J; Clinical Synopsis for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS; Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1; Clinical Synopsis for 301500 FABRY DISEASE; Clinical Synopsis for 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1

October 7, 2005
New Entries:: 300558 MENTAL RETARDATION, X-LINKED 30; MRX30; 609609 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 609635 TRANSCRIPTION FACTOR 23; TCF23; 609636 ALZHEIMER DISEASE 10; 609637 HOLOPROSENCEPHALY 5; HPE5; 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
Changed Entries:: 108780 NATRIURETIC PEPTIDE PRECURSOR A; NPPA; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 125647 DESMOPLAKIN; DSP; 129400 RAPP-HODGKIN SYNDROME; RHS; 134797 FIBRILLIN 1; FBN1; 137215 GASTRIC CANCER; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 155950 MELORHEOSTOSIS; 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 169615 DESMOGLEIN 3; DSG3; 215600 CIRRHOSIS, FAMILIAL; 235555 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH DELTA(4)-3-OXOSTEROID; 236100 HOLOPROSENCEPHALY; 236792 L-2-HYDROXYGLUTARIC ACIDURIA; 252600 MUCOLIPIDOSIS IIIA; 300046 MENTAL RETARDATION, X-LINKED 23; MRX23; 300142 p21-ACTIVATED KINASE 3; PAK3; 300256 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2; 600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E; 600747 T-BOX 2; TBX2; 601529 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 1; NR2C1; 601609 3-@HYDROXYACYL-CoA DEHYDROGENASE; HAD; 601647 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), EPSILON; PPP2R5E; 602053 KRUPPEL-LIKE FACTOR 6; KLF6; 602259 TETRATRICOPEPTIDE REPEAT DOMAIN 3; TTC3; 602490 NUCLEAR RECEPTOR-INTERACTING PROTEIN 1; NRIP1; 603073 ZINC FINGER PROTEIN OF CEREBELLUM, 2; ZIC2; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603924 HYALURONAN-BINDING PROTEIN 2; HABP2; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604865 KRUPPEL-LIKE FACTOR 7; KLF7; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB; 608254 PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1; PAXIP1; 609584 L-2-HYDROXYGLUTARATE DEHYDROGENASE; L2HGDH; Clinical Synopsis for 160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT; Clinical Synopsis for 255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

October 6, 2005
New Entries:: 609632 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN; 609633 MAJOR AFFECTIVE DISORDER 3
Changed Entries:: 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 117210 SPINOCEREBELLAR ATAXIA 4, PURE, JAPANESE TYPE; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 140559 HEAT-SHOCK 70-KD PROTEIN-LIKE 1; HSPA1L; 140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2; 142000 HEMOGLOBIN--DELTA LOCUS; HBD; 155310 MEGADUODENUM AND/OR MEGACYSTIS; 160900 DYSTROPHIA MYOTONICA 1; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 165020 V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1; ROS1; 165215 ECOTROPIC VIRAL INTEGRATION SITE 1; EVI1; 168461 CYCLIN D1; CCND1; 171650 ACID PHOSPHATASE 2, LYSOSOMAL; ACP2; 176267 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 179530 RAS-RELATED PROTEIN RAP1B; RAP1B; 181500 SCHIZOPHRENIA; SCZD; 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA; 223100 HYPOLACTASIA, ADULT TYPE; 229850 FRYNS SYNDROME; FRNS; 300145 X-PROLYL AMINOPEPTIDASE 2; XPNPEP2; 300147 PROSTATE CANCER, HEREDITARY, X-LINKED; HPCX; 301500 FABRY DISEASE; 301870 BIGLYCAN; BGN; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 312865 SHORT STATURE HOMEOBOX; SHOX; 600511 SCHIZOPHRENIA 3; SCZD3; 600716 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL; 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 603012 HEAT-SHOCK 70-KD PROTEIN 1B; HSPA1B; 603684 LIPASE, ENDOTHELIAL; LIPG; 606439 SPG3A GENE; SPG3A; 608092 PALLADIN, MOUSE, HOMOLOG OF; 608374 HEMOJUVELIN; 609049 MICROCORIA-CONGENITAL NEPHROSIS SYNDROME; 609627 TASTE RECEPTOR, TYPE 2, MEMBER 50; TAS2R50

October 6, 2005
New Entries:: 609628 MAJEED SYNDROME; 609631 DEAD/H BOX 58; DDX58
Changed Entries:: 102300 RESTLESS LEGS SYNDROME 1; 112310 BOOMERANG DYSPLASIA; 137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1; 139320 GNAS COMPLEX LOCUS; GNAS; 150325 LAMININ, BETA-2; LAMB2; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2; 236000 HODGKIN LYMPHOMA; 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; 243180 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE; 249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; 250250 CARTILAGE-HAIR HYPOPLASIA; CHH; 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3; 601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B; 602544 PARKIN; PARK2; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603381 FILAMIN B; FLNB; 603681 OTOFERLIN; OTOF; 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6; 604896 MKKS GENE; MKKS; 605519 LIPIN 2; LPIN2; 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; 606151 BBS2 GENE; BBS2; 607461 DYMECLIN; DYM; 607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1; TICAM1; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 608667 NIPPED-B-LIKE; NIPBL; 609049 MICROCORIA-CONGENITAL NEPHROSIS SYNDROME; 609629 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT; 609631 DEAD/H BOX 58; DDX58

October 4, 2005
New Entries:: 609496 NEPHROPATHY, CHRONIC HYPOCOMPLEMENTEMIC; 609629 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT; 609630 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1
Changed Entries:: 101000 NEUROFIBROMATOSIS, TYPE II; NF2; 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 107265 CD19 ANTIGEN; CD19; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 114480 BREAST CANCER; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 126452 DOPAMINE RECEPTOR D4; DRD4; 134370 COMPLEMENT FACTOR H; CFH; 134797 FIBRILLIN 1; FBN1; 137141 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4; 147620 INTERLEUKIN 6; IL6; 149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 155310 MEGADUODENUM AND/OR MEGACYSTIS; 168600 PARKINSON DISEASE; PD; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 184900 STIFF SKIN SYNDROME; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 200400 ACHALASIA, FAMILIAL ESOPHAGEAL; 223100 HYPOLACTASIA, ADULT TYPE; 243180 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300156 CANCER/TESTIS ANTIGEN 1B; CTAG1B; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY; 300538 ARGININE VASOPRESSIN RECEPTOR 2; AVPR2; 590025 TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE; 600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE; 601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602533 ONCOGENE DJ1; 603202 LACTASE; LCT; 603780 RECQ PROTEIN-LIKE 4; RECQL4; 603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1; 606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7; 606410 ANTHRAX TOXIN RECEPTOR 1; ANTXR1; 606411 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER),; 607379 NEUROFIBROMIN 2; NF2; 607688 PARKINSON DISEASE 11; 608041 ANTHRAX TOXIN RECEPTOR 2; ANTXR2; 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 609629 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT; 609630 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1

October 3, 2005
New Entries:: 300557 PARKINSON DISEASE 12; 609627 TASTE RECEPTOR, TYPE 2, MEMBER 50; TAS2R50
Changed Entries:: 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 134797 FIBRILLIN 1; FBN1; 139320 GNAS COMPLEX LOCUS; GNAS; 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142000 HEMOGLOBIN--DELTA LOCUS; HBD; 150325 LAMININ, BETA-2; LAMB2; 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC; 154700 MARFAN SYNDROME; MFS; 164343 EARLY B-CELL FACTOR; EBF; 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1; 167414 PAIRED BOX GENE 5; PAX5; 168600 PARKINSON DISEASE; PD; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 250250 CARTILAGE-HAIR HYPOPLASIA; CHH; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; 590025 TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE; 600185 BREAST CANCER 2 GENE; BRCA2; 601602 TRANSCRIPTION FACTOR AP2-GAMMA; TFAP2C; 602544 PARKIN; PARK2; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 607461 DYMECLIN; DYM; 608667 NIPPED-B-LIKE; NIPBL; 609049 MICROCORIA-CONGENITAL NEPHROSIS SYNDROME; 609622 SHORT QT SYNDROME 3; SQT3; Clinical Synopsis for 164050 NUCLEOSIDE PHOSPHORYLASE; NP; Clinical Synopsis for 174050 POLYCYSTIC LIVER DISEASE; PCLD; Clinical Synopsis for 230400 GALACTOSEMIA; Clinical Synopsis for 277700 WERNER SYNDROME; WRN

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OMIM Update List for October, 2005

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