OMIM Update List for February, 2005

PubMed

Nucleotide

Protein

Genome

OMIM Update List for February, 2005

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February 27, 2005
Changed Entries:: 229200 EHLERS-DANLOS SYNDROME VIB; 603066 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 3; PLOD3

February 25, 2005
New Entries:: 609220 BRUCK SYNDROME 2
Changed Entries:: 107269 CD44 ANTIGEN; CD44; 108500 EPISODIC ATAXIA, TYPE 2; EA2; 117000 CENTRAL CORE DISEASE OF MUSCLE; 121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1; 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1; 161560 INTERLEUKIN 12A; IL12A; 161561 INTERLEUKIN 12B; IL12B; 208920 ATAXIA-OCULOMOTOR APRAXIA SYNDROME; 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; 256600 NEUROAXONAL DYSTROPHY, INFANTILE; 259450 BRUCK SYNDROME 1; 300032 ATR-X GENE; ATRX; 600312 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 1; NUDT1; 600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2; 601865 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; PLOD2; 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602852 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 2; NUDT2; 603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; 605204 TORSIN-A; DYT1; 606022 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 9; NUDT9; 606261 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 6; NUDT6; 606350 APRATAXIN; APTX; 607279 SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY; 608095 SODIUM CHANNEL MODIFIER 1; SCNM1; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 609036 APBB1-INTERACTING PROTEIN; APBB1IP; 609219 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 14; NUDT14; Clinical Synopsis for 108300 STICKLER SYNDROME, TYPE I; STL1

February 24, 2005
New Entries:: 300523 MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; 609218 FOVEAL HYPOPLASIA AND ANTERIOR SEGMENT DYSGENESIS; 609219 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF, 14; NUDT14; 609221 N-ACETYLTRANSFERASE-LIKE PROTEIN
Changed Entries:: 116957 RETINOBLASTOMA-LIKE 1; RBL1; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 300414 PHD FINGER PROTEIN 6; PHF6; 300457 NHS GENE; NHS; 308350 INFANTILE SPASM SYNDROME, X-LINKED; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE; 602570 JAGGED 2; JAG2; 602821 KINESIN FAMILY MEMBER 5A; KIF5A; 604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10; 609216 SPIRE, DROSOPHILA, HOMOLOG OF, 1; SPIRE1

February 23, 2005
New Entries:: 609216 SPIRE, DROSOPHILA, HOMOLOG OF, 1; SPIRE1; 609217 SPIRE, DROSOPHILA, HOMOLOG OF, 2; SPIRE2
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 120353 MATRIX METALLOPROTEINASE 1; MMP1; 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 138030 GLUCAGON; GCG; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 165161 ONCOGENE JUN-B; JUNB; 173470 INTEGRIN, BETA-3; ITGB3; 180300 RHEUMATOID ARTHRITIS; RA; 187930 COAGULATION FACTOR II RECEPTOR; F2R; 188060 THROMBOSPONDIN I; THBS1; 188061 THROMBOSPONDIN II; THBS2; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG; MYB; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191170 TUMOR PROTEIN p53; TP53; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 193210 INTEGRIN, ALPHA-V; ITGAV; 234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1; 245200 KRABBE DISEASE; 300257 GLYCOGEN STORAGE DISEASE IIb; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF; 590070 TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF; 600277 INHIBITOR OF DNA BINDING 3; ID3; 600349 INHIBITOR OF DNA BINDING 1; ID1; 600386 INHIBITOR OF DNA BINDING 2; ID2; 600966 LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 1; LLGL1; 601121 PLACENTAL GROWTH FACTOR; PGF; 601415 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 2; MYBL2; 602118 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1; CHD1; 602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2; 602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1; 602700 E1A-BINDING PROTEIN, 300-KD; EP300; 602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9; 603149 INTERLEUKIN 17; IL17; 603438 RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS,; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604558 INDUCIBLE COSTIMULATOR; ICOS; 605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4; 605353 GHRELIN; 606409 ITCHY, MOUSE, HOMOLOG OF; ITCH; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 607174 MENINGIOMA, FAMILIAL; 607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; 608160 SRY-BOX 9; SOX9; 609188 TTDN1 GENE; TTDN1; 609213 SEC61 COMPLEX, ALPHA-1 SUBUNIT; SEC61A1; 609216 SPIRE, DROSOPHILA, HOMOLOG OF, 1; SPIRE1; Clinical Synopsis for 300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

February 22, 2005
New Entries:: 609213 SEC61 COMPLEX, ALPHA-1 SUBUNIT; SEC61A1; 609214 SEC61 COMPLEX, BETA SUBUNIT; SEC61B; 609215 SEC61 COMPLEX, GAMMA SUBUNIT; SEC61G
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 101000 NEUROFIBROMATOSIS, TYPE II; NF2; 102775 ADENOSINE A1 RECEPTOR; ADORA1; 102981 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1; 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4; 105210 AMYLOIDOSIS VII; 108729 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, GAMMA SUBUNIT; 108733 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2; 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 113508 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 117210 CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT PURE; 118508 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 3; CHRNB3; 120353 MATRIX METALLOPROTEINASE 1; MMP1; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 123450 CRI-DU-CHAT SYNDROME; 123740 CRYSTALLIN, MU; CRYM; 123831 CYCLIN-DEPENDENT KINASE 5; CDK5; 127750 DEMENTIA, LEWY BODY; DLB; 131220 FIBROBLAST GROWTH FACTOR 1; FGF1; 131242 ENDOTHELIN 3; EDN3; 131320 GATA-BINDING PROTEIN 3; GATA3; 134797 FIBRILLIN 1; FBN1; 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;; 138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1; 138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB; 139250 GROWTH HORMONE 1; GH1; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 140581 HEAT-SHOCK TRANSCRIPTION FACTOR 2; HSF2; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 143100 HUNTINGTON DISEASE; HD; 146500 HYPOTENSION, ORTHOSTATIC; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147460 SUPEROXIDE DISMUTASE 2; SOD2; 147570 INTERFERON, GAMMA; IFNG; 147680 INTERLEUKIN 2; IL2; 147683 INTERLEUKIN 13; IL13; 147720 INTERLEUKIN 1-BETA; IL1B; 149400 HYPEREXPLEXIA, HEREDITARY; 150330 LAMIN A/C; LMNA; 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 157900 MOEBIUS SYNDROME 1; MBS1; 158350 COWDEN DISEASE; CD; 161015 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1; NDUFV1; 161560 INTERLEUKIN 12A; IL12A; 161561 INTERLEUKIN 12B; IL12B; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE; 162360 NESCIENT HELIX LOOP HELIX 1; NHLH1; 163890 SYNUCLEIN, ALPHA; SNCA; 163970 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE),; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164600 OLIVOPONTOCEREBELLAR ATROPHY IV; 168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1; 168610 PALLIDOPONTONIGRAL DEGENERATION; PPND; 173850 POLIOVIRUS RECEPTOR; PVR; 176500 DEMENTIA, FAMILIAL BRITISH; FBD; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 176882 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, BETA; PTPRB; 177075 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG; MAF; 182790 SPECTRIN, BETA, NONERYTHROCYTIC, 1; SPTBN1; 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 185100 STRABISMUS, SUSCEPTIBILITY TO; 185430 CLUSTERIN; CLU; 185620 SURFEIT 1; SURF1; 186973 T-CELL TYROSINE KINASE EMT; EMT; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 191328 UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN I; UQCRC1; 191329 UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN II; UQCRC2; 192430 VELOCARDIOFACIAL SYNDROME; 193700 FREEMAN-SHELDON SYNDROME; FSS; 204300 CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4; 206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM; 213300 JOUBERT SYNDROME 1; JBTS1; 213600 FAHR DISEASE; 213700 CEREBROTENDINOUS XANTHOMATOSIS; 214800 CHARGE SYNDROME; 216400 COCKAYNE SYNDROME, TYPE I; CKN1; 220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC; 220200 DANDY-WALKER SYNDROME; DWS; 222300 WOLFRAM SYNDROME; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 225790 ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV; 230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I; 236792 L-2-@HYDROXYGLUTARICACIDEMIA; 243910 ARIMA SYNDROME; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; 248700 MARDEN-WALKER SYNDROME; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 249240 MEGALENCEPHALY WITH DYSMYELINATION; 250100 METACHROMATIC LEUKODYSTROPHY; 252030 REMOVED FROM DATABASE; 252100 MOHR SYNDROME; 267010 RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 313700 ANDROGEN RECEPTOR; AR; 516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1; 600058 PROTEIN TYROSINE KINASE TXK; TXK; 600288 FORKHEAD BOX A2; FOXA2; 600527 EPHRIN B2; EFNB2; 600554 INTERLEUKIN 15; IL15; 601253 CAVEOLIN 3; CAV3; 601288 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601556 ATAXIN 1; ATXN1; 601693 UNCOUPLING PROTEIN 2; UCP2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602173 TRANSLOCATION PROTEIN 1, DROSOPHILA, HOMOLOG OF; TLOC1; 602257 SCAVENGER RECEPTOR CLASS B, MEMBER 2; SCARB2; 602353 TRANSFORMING GROWTH FACTOR, BETA-1-INDUCED 1; TGFB1I1; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603759 LIM HOMEOBOX GENE 2; LHX2; 604420 HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 604543 LIM DOMAIN-CONTAINING PROTEIN 1; LIMD1; 604895 T-BOX 21; TBX21; 604896 MKKS GENE; MKKS; 606089 BRAIN CYTOPLASMIC RNA 1; BCYRN1; 606151 BBS2 GENE; BBS2; 606280 CHROMOSOME CONDENSATION PROTEIN G; 606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1; 607060 PARKINSON DISEASE 8; PARK8; 608341 NAD(P)H:QUINONE OXIDOREDUCTASE TYPE 3, POLYPEPTIDE A2; NQO3A2; 608342 CYTOCHROME b5 REDUCTASE 2; 608648 SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63; 608764 PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1; 608958 ADENOSINE DEAMINASE; ADA; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609009 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 609169 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, SPERMATOGENIC; GAPDS

February 18, 2005
New Entries:: 609211 MYOSIN REGULATORY LIGHT CHAIN 2; 609212 ASPARAGINASE-LIKE PROTEIN 1; ASRGL1
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 107450 INTERFERON, ALPHA, BETA, AND OMEGA, RECEPTOR 1; IFNAR1; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 153440 LYMPHOTOXIN-ALPHA; LTA; 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA; 173391 PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR; 173393 PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR; 176941 PROTEIN-TYROSINE KINASE 2; TYK2; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1; 178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB; 180680 RNA, U1 SMALL NUCLEAR; RNU1; 180690 RNA, U2 SMALL NUCLEAR; RNU2; 180901 RYANODINE RECEPTOR 1; RYR1; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 191092 TSC2 GENE; TSC2; 191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU; 267450 RESPIRATORY DISTRESS SYNDROME; RDS; 275000 GRAVES DISEASE; 500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL; 601664 ACTIVATING SIGNAL COINTEGRATOR I COMPLEX SUBUNIT 3-LIKE 1; ASCC3L1; 601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1; 601774 ALPHA-1,6-@MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE;; 601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602361 GRACILE BONE DYSPLASIA; 602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1; 603718 CLAUDIN 1; CLDN1; 603892 U5 snRNP-SPECIFIC PROTEIN, 116-KD; 605271 PROTEIN Z-DEPENDENT PROTEASE INHIBITOR PRECURSOR; 607624 GRISCELLI SYNDROME, TYPE 2; GS2; 607834 NEUROTICISM

February 17, 2005
New Entries:: 609209 INFLUENZA VIRUS NS1A PROTEIN-BINDING PROTEIN; IVNS1ABP; 609210 CLAUDIN 18; CLDN18
Changed Entries:: 108961 NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B; NPR2; 120470 DELETED IN COLORECTAL CARCINOMA; DCC; 137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN; 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 180297 RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN; RHAG; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 211390 SABINAS BRITTLE HAIR SYNDROME; 234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE, 1; TTDN1; 275550 TRICHORRHEXIS NODOSA SYNDROME; 600108 MATRIX METALLOPROTEINASE 13; MMP13; 600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601365 DISHEVELLED 1; DVL1; 601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP; 601967 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7B; WNT7B; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 605271 PROTEIN Z-DEPENDENT PROTEASE INHIBITOR PRECURSOR; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 606647 CENTAURIN, DELTA-3; CENTD3; 606810 PROLINE DEHYDROGENASE; PRODH; 607743 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2; FRS2; 609188 TTDN1 GENE; TTDN1; Clinical Synopsis for 606072 RIPPLING MUSCLE DISEASE; RMD

February 16, 2005
New Entries:: 609206 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, EPSILON-1; EEF1E1; 609207 DILUTE SUPPRESSOR, MOUSE, HOMOLOG OF; 609208 KAZAL-TYPE PROTEASE INHIBITOR DOMAIN-CONTAINING PROTEIN 1; KAZALD1
Changed Entries:: 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 152430 LONGEVITY; 172405 PHOSPHOLAMBAN; PLN; 173510 CD36 ANTIGEN; CD36; 184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1; 191170 TUMOR PROTEIN p53; TP53; 234050 HAIR-BRAIN SYNDROME; 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H; 275550 TRICHORRHEXIS NODOSA SYNDROME; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601150 DEAD/H BOX 11; DDX11; 601253 CAVEOLIN 3; CAV3; 601430 REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1; 601510 SREBP CLEAVAGE-ACTIVATING PROTEIN; 601665 OBESITY; 601716 STAUFEN, DROSOPHILA, HOMOLOG OF; STAU; 601929 ATPase, Ca(2+)-TRANSPORTING, UBIQUITOUS; ATP2A3; 602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 602903 KRUPPEL-LIKE FACTOR 5; KLF5; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603188 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10p; OB10P; 603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 604768 ZINC FINGER PROTEIN 254; ZNF254; 605219 SECOND MITOCHONDRIA-DERIVED ACTIVATOR OF CASPASE; 605518 LIPIN 1; 606039 G PROTEIN-COUPLED RECEPTOR 109B; GPR109B; 606526 MELANOPHILIN; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH; 607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I; 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY; 608485 TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 2; TRAM2; 608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA;; 609113 TELOMERE LENGTH, MEAN LEUKOCYTE; 609163 G PROTEIN-COUPLED RECEPTOR 109A; GPR109A; 609188 CHROMOSOME 7 OPEN READING FRAME 11; C7ORF11; 609208 KAZAL-TYPE PROTEASE INHIBITOR DOMAIN-CONTAINING PROTEIN 1; KAZALD1

February 15, 2005
New Entries:: 609204 MITOCHONDRIAL RIBOSOMAL PROTEIN S16: MRPS16; 609205 DAB2-INTERACTING PROTEIN; DAB2IP
Changed Entries:: 108420 ASPERMIOGENESIS FACTOR; 114180 CALMODULIN 1; CALM1; 126450 DOPAMINE RECEPTOR D2; DRD2; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 166000 ENCHONDROMATOSIS, MULTIPLE; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 166250 OSTEOGLOPHONIC DYSPLASIA; OGD; 168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1; 181500 SCHIZOPHRENIA; SCZD; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 191160 TUMOR NECROSIS FACTOR; TNF; 270150 SJOGREN SYNDROME; 600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600442 AQUAPORIN 5; AQP5; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601833 ALLOGRAFT INFLAMMATORY FACTOR 1; AIF1; 602473 ENCEPHALOPATHY, ETHYLMALONIC; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 603474 RIBOSOMAL PROTEIN S19; RPS19; 603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3; 604173 POIKILODERMA WITH NEUTROPENIA; PN; 604505 THYROID HORMONE RECEPTOR INTERACTOR 11; TRIP11; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 605566 RETICULON 4 RECEPTOR; RTN4R; 605836 UNC13, C. ELEGANS, HOMOLOG OF, B; UNC13B; 606110 LY6/NEUROTOXIN 1; LYNX1; 607481 MMAA GENE; MMAA; 608752 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 5; C1QTNF5

February 11, 2005
New Entries:: 609202 SECRETAGOGIN; SCGN; 609203 CLAUDIN 23; CLDN23
Changed Entries:: 113705 BREAST CANCER 1 GENE; BRCA1; 114480 BREAST CANCER; 114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; 159440 MYELIN PROTEIN ZERO; MPZ; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 165720 OSTEOARTHRITIS; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 300086 G PROTEIN-COUPLED RECEPTOR 23; GPR23; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 601003 BRODY MYOPATHY; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 604370 OVARIAN CANCER, EPITHELIAL; 605083 FRIZZLED-RELATED PROTEIN; FRZB; 606273 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3; 606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2; 606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4; 606933 TYROSINASE; TYR; 607273 FOLLICULIN; FLCN; 607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; 608135 ASPORIN; ASPN; 609170 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 4; TXNDC4; 609191 PROTEIN KINASE A-INTERACTING PROTEIN 1

February 10, 2005
New Entries:: 609201 SUPPRESSOR OF T-CELL RECEPTOR SIGNALING 1
Changed Entries:: 103710 ALCOHOL DEHYDROGENASE 5, CHI POLYPEPTIDE; ADH5; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1; 113503 BRADYKININ RECEPTOR B2; BDKRB2; 114020 CADHERIN 2; CDH2; 116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2; 131445 EPENDYMOMA, FAMILIAL; 141250 HEME OXYGENASE 1; HMOX1; 141251 HEME OXYGENASE 2; HMOX2; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR; 152200 APOLIPOPROTEIN(a); LPA; 160741 MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL; MYH8; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163890 SYNUCLEIN, ALPHA; SNCA; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 176807 PROSTATE CANCER; 185000 STOMATOCYTOSIS I; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 192090 CADHERIN 1; CDH1; 231675 ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH; 248600 MAPLE SYRUP URINE DISEASE; 252650 MUCOLIPIDOSIS IV; 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 312170 PYRUVATE DECARBOXYLASE DEFICIENCY; 312750 RETT SYNDROME; RTT; 400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED; 600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER; 600465 ANKYRIN 3; ANK3; 600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3; 601481 MYOSIN X; MYO10; 602839 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, DELTA; PIK3CD; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603502 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 1; IFRD1; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 605248 MUCOLIPIN 1; MCOLN1; 605736 UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN A; UBASH3A; 605738 NANOPHTHALMOS 2; NNO2; 605821 ERYTHROID-ASSOCIATED FACTOR; ERAF; 606146 FRIZZLED, DROSOPHILA, HOMOLOG OF, 8; FZD8; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; 606870 JUNCTIONAL ADHESION MOLECULE 2; JAM2; 606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3; 607139 FANCA GENE; FANCA; 607739 MOVED TO 604563; 607842 AURAL ATRESIA, CONGENITAL; 608252 ACTIN FILAMENT-ASSOCIATED PROTEIN; 608505 CREE ENCEPHALITIS; 608786 PYRUVATE CARBOXYLASE; PC; Clinical Synopsis for 607739 MOVED TO 604563

February 9, 2005
New Entries:: 609198 ADAMTS-LIKE PROTEIN 1; ADAMTSL1; 609199 ADAMTS-LIKE PROTEIN 3; ADAMTSL3
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 108731 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 1; ATP2B1; 108732 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 4; ATP2B4; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 141251 HEME OXYGENASE 2; HMOX2; 143100 HUNTINGTON DISEASE; HD; 147582 IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 2; IREB2; 150330 LAMIN A/C; LMNA; 173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 194355 X BOX-BINDING PROTEIN 1; XBP1; 275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600150 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY; 600725 SONIC HEDGEHOG; SHH; 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY; 601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP; 601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1; 601665 OBESITY; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 601778 POLYMERASE, RNA, MITOCHONDRIAL; POLRMT; 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1; 602378 DYNAMIN 2; DNM2; 602402 FORKHEAD BOX C2; FOXC2; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2; 604067 REGULATOR OF G PROTEIN SIGNALING 9; RGS9; 604282 PLEXIN D1; PLXND1; 604479 SIRTUIN 1; SIRT1; 604966 PROTOCADHERIN-ALPHA GENE CLUSTER; 606087 DESMUSLIN; DMN; 606167 G PROTEIN-COUPLED RECEPTOR 132; GPR132; 606385 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 1; OLIG1; 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; 607060 PARKINSON DISEASE 8; PARK8; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607611 PHOSPHOLIPID SCRAMBLASE 3; PLSCR3; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 608166 SEMAPHORIN 3E; SEMA3E; 609192 LOEYS-DIETZ AORTIC ANEURYSM SYNDROME; LDAS; Clinical Synopsis for 159900 MYOCLONIC DYSTONIA; Clinical Synopsis for 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B

February 8, 2005
New Entries:: 609192 LOEYS-DIETZ AORTIC ANEURYSM SYNDROME; LDAS; 609193 PEPTIDYLPROLYL ISOMERASE-LIKE 5; PPIL5; 609194 CDK5 AND ABL ENZYME SUBSTRATE 1; CABLES1; 609196 MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN; MRAP; 609197 GLUCOCORTICOID DEFICIENCY 3; Clinical Synopsis for 606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2; Clinical Synopsis for 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4
Changed Entries:: 103420 ALACRIMA, CONGENITAL; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 108355 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2; 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1; 108731 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 1; ATP2B1; 108732 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 4; ATP2B4; 108733 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2; 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE; RCM; 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA; 119530 OROFACIAL CLEFT 1; OFC1; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 123831 CYCLIN-DEPENDENT KINASE 5; CDK5; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 140500 HEART, MALFORMATION OF; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; 151410 BREAKPOINT CLUSTER REGION; BCR; 151623 LI-FRAUMENI SYNDROME; LFS; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 172405 PHOSPHOLAMBAN; PLN; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 180500 RIEGER SYNDROME, TYPE 1; RIEG1; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG; 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 191044 TROPONIN I, CARDIAC; TNNI3; 202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1; 239000 PAGET DISEASE, JUVENILE; 241550 HYPOPLASTIC LEFT HEART SYNDROME; 248900 MAST SYNDROME; 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP; 300014 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 3; ATP2B3; 300121 DOUBLECORTIN; DCX; 300231 SOLUTE CARRIER FAMILY 9, ISOFORM A6; SLC9A6; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD; 600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1; 600807 ASTHMA, SUSCEPTIBILITY TO; 600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE; 601583 WILMS TUMOR 5; WT5; 601626 LEUKEMIA, ACUTE MYELOID; AML; 601929 ATPase, Ca(2+)-TRANSPORTING, UBIQUITOUS; ATP2A3; 602115 FIBROBLAST GROWTH FACTOR 10; FGF10; 602491 HYPERLIPIDEMIA, COMBINED, 1; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 602916 UBIQUITIN-CONJUGATING ENZYME E2E 1; UBE2E1; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 603146 PROTEASOME 26S SUBUNIT, NON-ATPase, 9; PSMD9; 603368 CYCLIN-DEPENDENT KINASE 6; CDK6; 603474 RIBOSOMAL PROTEIN S19; RPS19; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 604265 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 2; CELSR2; 604532 POLYCYSTIN 2-LIKE 1; PKD2L1; 604797 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 2;; 604992 SARCALUMENIN; SRL; 605158 p53-RESPONSIVE GENE 2; 605878 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7; ZBTB7; 606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2; 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6; 606553 SOLUTE CARRIER FAMILY 9, ISOFORM 3, REGULATORY FACTOR 2; SLC9A3R2; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607194 PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT; PTF1A; 607277 ASTHMA, SUSCEPTIBILITY TO, 1; 607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2; 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1; PSORAS1; 608181 ACIDIC CLUSTER PROTEIN, 33-KD; 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4; 609062 POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 2; POU6F2; 609194 CDK5 AND ABL ENZYME SUBSTRATE 1; CABLES1; Clinical Synopsis for 250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS; Clinical Synopsis for 267750 KNOBLOCH SYNDROME; KNO; Clinical Synopsis for 275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION; Clinical Synopsis for 280000 ZUNICH NEUROECTODERMAL SYNDROME; Clinical Synopsis for 600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS; Clinical Synopsis for 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD

February 4, 2005
New Entries:: 300522 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 2; IQSEC2; 609191 PROTEIN KINASE A-INTERACTING PROTEIN 1
Changed Entries:: 100880 ACONITASE, SOLUBLE; ACO1; 135600 FIBRONECTIN 1; FN1; 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 147582 IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 2; IREB2; 164009 NUCLEAR MITOTIC APPARATUS PROTEIN 1; NUMA1; 170280 PERFORIN 1; PRF1; 173870 ADP-RIBOSYLTRANSFERASE; ADPRT; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 251260 NIJMEGEN BREAKAGE SYNDROME; 276400 TWINNING, DIZYGOTIC; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601620 T-BOX 5; TBX5; 601719 T-BOX 4; TBX4; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1; 602917 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 604653 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 604744 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 2; DDAH2; 605604 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 607444 SBDS GENE; SBDS; 609183 AURORA KINASE A-INTERACTING PROTEIN

February 3, 2005
New Entries:: 609186 D-2-@HYDROXYGLUTARATE DEHYDROGENASE; 609187 CHROMOSOME 7 OPEN READING FRAME 10; C7ORF10; 609188 CHROMOSOME 7 OPEN READING FRAME 11; C7ORF11; 609189 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, A; ASF1A; 609190 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, B; ASF1B
Changed Entries:: 102775 ADENOSINE A1 RECEPTOR; ADORA1; 108420 ASPERMIOGENESIS FACTOR; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 118850 CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA; 120270 COLLAGEN, TYPE IX, ALPHA-3; COL9A3; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 134797 FIBRILLIN 1; FBN1; 142623 HIRSCHSPRUNG DISEASE; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 146510 PALLISTER-HALL SYNDROME; PHS; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 164009 NUCLEAR MITOTIC APPARATUS PROTEIN 1; NUMA1; 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 180860 SILVER-RUSSELL SYNDROME; SRS; 188550 THYROID CARCINOMA, PAPILLARY; 192950 VERTICAL TALUS, CONGENITAL; CVT; 211180 BOWEN-CONRADI SYNDROME; BWCNS; 231060 GENITOPALATOCARDIAC SYNDROME; 254780 MYOCLONIC EPILEPSY OF LAFORA; 264480 PSEUDOTRISOMY 13 SYNDROME; 268670 MOVED TO 270400; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300017 FILAMIN A; FLNA; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD; 600237 HISTONE CELL CYCLE REGULATION DEFECTIVE, S. CEREVISIAE, HOMOLOG OF,; 600539 PROTEIN KINASE C, IOTA FORM; PRKCI; 600721 D-2-@HYDROXYGLUTARICACIDURIA; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 600944 DEOXYHYPUSINE SYNTHASE; DHPS; 601013 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT; CACNA1E; 601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 602377 DYNAMIN 1; DNM1; 602716 NEPHRIN; NPHS1; 602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7; 604001 A-KINASE ANCHOR PROTEIN 9; AKAP9; 604173 POIKILODERMA WITH NEUTROPENIA; PN; 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7; 607428 KIN OF IRRE-LIKE; KIRREL; 608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1; 609187 CHROMOSOME 7 OPEN READING FRAME 10; C7ORF10; Clinical Synopsis for 268670 MOVED TO 270400

February 2, 2005
New Entries:: 609179 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7
Changed Entries:: 107720 APOLIPOPROTEIN C-III; APOC3; 109565 B-CELL LYMPHOMA 6; BCL6; 114030 CAFE-AU-LAIT SPOTS, MULTIPLE; 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 118955 CLATHRIN, HEAVY POLYPEPTIDE; CLTC; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 138430 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; GPD2; 143470 HYPERALPHALIPOPROTEINEMIA; 150325 LAMININ, BETA-2; LAMB2; 150341 LAMIN B2; LMNB2; 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 159440 MYELIN PROTEIN ZERO; MPZ; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 173870 ADP-RIBOSYLTRANSFERASE; ADPRT; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 177050 PROTRUSIO ACETABULI; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; 182790 SPECTRIN, BETA, NONERYTHROCYTIC, 1; SPTBN1; 191306 KINASE INSERT DOMAIN RECEPTOR; KDR; 192000 UTERINE ANOMALIES; 200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA; 206500 ANENCEPHALY; 215550 CIRCUMVALLATE PLACENTA SYNDROME; 224500 DYSTONIA MUSCULORUM DEFORMANS 2; DYT2; 234500 HARTNUP DISORDER; 242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 276000 PROTEASE, SERINE, 1; PRSS1; 300519 MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME; 301500 FABRY DISEASE; 600755 SYNAPSIN II; SYN2; 600923 PROTOPORPHYRINOGEN OXIDASE; PPOX; 600982 MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601397 T BRACHYURY, MOUSE, HOMOLOG OF; T; 601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4; 601789 PEROXISOME BIOGENESIS FACTOR 13; PEX13; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602117 NECDIN; NDN; 602276 TRANSCRIPTIONAL ADAPTOR 2-LIKE; TADA2L; 603438 RADIOULNAR SYNOSTOSIS WITH SHORT STATURE, MICROCEPHALY, SCOLIOSIS,; 603718 CLAUDIN 1; CLDN1; 604036 CYCLIN A1; CCNA1; 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; 604644 CARBONIC ANHYDRASE XI; CA11; 605215 SKAP55-RELATED PROTEIN; 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING; 605350 T-CELL CYTOKINE RECEPTOR; 605574 UBIQUITIN-CONJUGATING ENZYME E2C; UBE2C; 606123 RING FINGER PROTEIN 16; RNF16; 606125 TRIPARTITE MOTIF-CONTAINING PROTEIN 8; TRIM8; 606130 RING FINGER PROTEIN 26; RNF26; 606418 24-@DEHYDROCHOLESTEROL REDUCTASE; DHCR24; 606517 ARYLHYDROCARBON RECEPTOR REPRESSOR; 607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; 607697 SET-BINDING FACTOR 2; SBF2; 607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; 607739 MOVED TO 604563; 608314 SEPTIN 3; SEPT3; 608358 MYOPATHY, MYOSIN STORAGE; 608375 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 6; DNAJC6; 609150 CXXC FINGER PROTEIN 1; CXXC1; 609183 AURORA KINASE A-INTERACTING PROTEIN; Mini-MIM for 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

February 1, 2005
New Entries:: 300518 MENTAL RETARDATION, X-LINKED 82; MRX82; 300519 MARTIN-PROBST SYNDROMIC DEAFNESS SYNDROME, X-LINKED; 300521 KINESIN FAMILY MEMBER 4A; KIF4A; 609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD; 609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; 609181 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 4; DYRK4; 609182 SOLUTE CARRIER FAMILY 35, MEMBER D2; SLC35D2; 609183 AURORA KINASE A-INTERACTING PROTEIN; 609184 KINESIN FAMILY MEMBER 4B; KIF4B; 609185 ZINC FINGER AND HOMEODOMAIN PROTEIN 2; ZHX2
Changed Entries:: 104150 ALPHA-FETOPROTEIN; AFP; 104300 ALZHEIMER DISEASE; AD; 107720 APOLIPOPROTEIN C-III; APOC3; 108420 ASPERMIOGENESIS FACTOR; 109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 115310 PARAGANGLIOMAS 4; PGL4; 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B; 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A; 123450 CRI-DU-CHAT SYNDROME; 126800 DUANE RETRACTION SYNDROME 1; DURS1; 133430 ESTROGEN RECEPTOR 1; ESR1; 134797 FIBRILLIN 1; FBN1; 136533 FORKHEAD BOX O1A; FOXO1A; 140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142910 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR; 150230 LANGER-GIEDION SYNDROME; LGS; 150341 LAMIN B2; LMNB2; 151390 LEUKEMIA, ACUTE T-CELL; ATL; 156610 MICHELIN TIRE BABY SYNDROME; 158070 SOLUTE CARRIER FAMILY 3 (ACTIVATOR OF DIBASIC AND NEUTRAL AMINO ACID; 160700 MYOPIA 2; MYP2; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 167409 PAIRED BOX GENE 2; PAX2; 168000 PARAGANGLIOMAS 1; PGL1; 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP; 171350 MOVED TO 115310; 176941 PROTEIN-TYROSINE KINASE 2; TYK2; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 186357 SYNDECAN 3; SDC3; 186740 CD3 ANTIGEN, GAMMA SUBUNIT; CD3G; 186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D; 186830 CD3 ANTIGEN, EPSILON SUBUNIT; CD3E; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 190685 DOWN SYNDROME; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 213300 JOUBERT SYNDROME 1; JBTS1; 249420 FRANK-TER HAAR SYNDROME; 275000 GRAVES DISEASE; 300521 KINESIN FAMILY MEMBER 4A; KIF4A; 310460 MYOPIA 1; MYP1; 600992 ANOPHTHALMIA/MICROPHTHALMIA AND ESOPHAGEAL ATRESIA; AMEA; 601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2; 603221 MYOPIA 3; MYP3; 603260 BarH-LIKE HOMEOBOX GENE 1; BARX1; 603484 PROTEIN REGULATING CYTOKINESIS 1; PRC1; 603496 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 2; DYRK2; 603497 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 3; DYRK3; 603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 604041 MANNOSE-P-DOLICHOL UTILIZATION DEFECT 1; MPDU1; 604277 SPG4 GENE; SPG4; 604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1; 604424 HOMEODOMAIN-INTERACTING PROTEIN KINASE 3; HIPK3; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 605286 CALPAIN 10; CAPN10; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC; 605881 SOLUTE CARRIER FAMILY 35, MEMBER C1; SLC35C1; 606622 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607478 TRYPTOPHAN HYDROXYLASE 2; TPH2; 607522 HPS6 GENE; HPS6; 607729 REGULATED IN DEVELOPMENT AND DNA DAMAGE RESPONSES 1; 607730 REGULATED IN DEVELOPMENT AND DNA DAMAGE RESPONSES 2; 608367 MYOPIA 4; 608474 MYOPIA 5; 608507 MITOFUSIN 2; MFN2; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA;; 608908 MYOPIA 6; 608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,; Clinical Synopsis for 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE; Clinical Synopsis for 184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES; Clinical Synopsis for 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

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OMIM Update List for February, 2005

February 27, 2005

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