OMIM Update List for December, 2003

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Nucleotide

Protein

Genome

OMIM Update List for December, 2003

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December 31, 2003
New Entries:: 608358 MYOPATHY, MYOSIN STORAGE; 608370 STEAROYL-CoA DESATURASE 4; SCD4; 608371 OROFACIAL CLEFT 4
Changed Entries:: 103180 ADP-RIBOSYLATION FACTOR 1; ARF1; 109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1; 119530 OROFACIAL CLEFT 1; OFC1; 159440 MYELIN PROTEIN ZERO; MPZ; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1; 176960 PROTEIN KINASE C, ALPHA; PRKCA; 176981 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2-LIKE 1; GNB2L1; 182115 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 1; PSCD1; 300194 AMME COMPLEX; 300328 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED FAMILY, MEMBER 1-LIKE;; 308940 LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 600757 OROFACIAL CLEFT 3; OFC3; 601243 TOPOISOMERASE, DNA, III, ALPHA; TOP3A; 602488 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 2; PSCD2; 602912 INTEGRIN, BETA-4, BINDING PROTEIN OF; ITGB4BP; 602966 OROFACIAL CLEFT 2; OFC2; 604591 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN; PBP; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 604677 COLLAGEN, TYPE IV, ALPHA-3 BINDING PROTEIN; COL4A3BP; 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING; 607238 COPPER METABOLISM GENE MURR1; 608370 STEAROYL-CoA DESATURASE 4; SCD4; Clinical Synopsis for 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; Clinical Synopsis for 153100 LYMPHEDEMA, HEREDITARY, I; Clinical Synopsis for 185700 SYMPHALANGISM, DISTAL; Clinical Synopsis for 185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET; Clinical Synopsis for 239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA; Clinical Synopsis for 242150 ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS; Clinical Synopsis for 245800 LAURENCE-MOON SYNDROME; Clinical Synopsis for 247410 LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME; Clinical Synopsis for 261540 PETERS-PLUS SYNDROME; Clinical Synopsis for 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES; Clinical Synopsis for 301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS

December 30, 2003
New Entries:: 608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3; 608346 MUSCULAR DYSTROPHY, CONGENITAL, ASSOCIATED WITH CALF HYPERTROPHY,; 608369 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE
Changed Entries:: 101000 NEUROFIBROMATOSIS, TYPE II; NF2; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 123680 CRYSTALLIN, GAMMA-C; CRYGC; 123690 CRYSTALLIN, GAMMA-D; CRYGD; 128230 DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION; 138079 GLUCOKINASE; GCK; 143100 HUNTINGTON DISEASE; HD; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163890 SYNUCLEIN, ALPHA; SNCA; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA; 180700 ROBINOW SYNDROME; 233910 GTP CYCLOHYDROLASE I DEFICIENCY; 245349 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; 600225 GTP CYCLOHYDROLASE I; GCH1; 601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5; 603504 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A; CDC14A; 604143 EXTRA SPINDLE POLES-LIKE 1; ESPL1; 604411 INNER CENTROMERE PROTEIN; INCENP; 604479 SIRTUIN 1; SIRT1; 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE; 605568 SMAD UBIQUITINATION REGULATORY FACTOR 1; 606418 24-@DEHYDROCHOLESTEROL REDUCTASE; DHCR24; 607136 SPINOCEREBELLAR ATAXIA 17; SCA17; 607195 DYSTONIA 14; DYT14; 608225 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 608346 MUSCULAR DYSTROPHY, CONGENITAL, ASSOCIATED WITH CALF HYPERTROPHY,; Clinical Synopsis for 118700 CHOREA, HEREDITARY BENIGN; BCH; Clinical Synopsis for 600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE; Clinical Synopsis for 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

December 29, 2003
New Entries:: 300466 MELANOMA ANTIGEN, FAMILY B, 5; MAGEB5; 300470 MELANOMA ANTIGEN, FAMILY D, 2; MAGED2; 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; 608368 RAD9, S. POMBE, HOMOLOG OF, B; RAD9B
Changed Entries:: 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT; 118700 CHOREA, HEREDITARY BENIGN; BCH; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1; 151590 LICHEN SCLEROSUS ET ATROPHICUS; LSA; 173900 POLYCYSTIC KIDNEYS; 176640 PRION PROTEIN; PRNP; 184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; 188840 TITIN; TTN; 193040 VILLIN; VIL; 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 602201 EXTRACELLULAR MATRIX PROTEIN 1; ECM1; 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4; 603761 RAD9, S. POMBE, HOMOLOG OF, A; RAD9A; 604088 G-SUBSTRATE; 605148 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 607131 MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 608368 RAD9, S. POMBE, HOMOLOG OF, B; RAD9B

December 26, 2003
New Entries:: 300467 MELANOMA ANTIGEN, FAMILY B, 6; MAGEB6; 300468 MELANOMA ANTIGEN, FAMILY E, 1; MAGEE1; 300469 MELANOMA ANTIGEN, FAMILY C, 3; MAGEC3
Changed Entries:: 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 153440 LYMPHOTOXIN-ALPHA; LTA; 300343 MELANOMA ANTIGEN, FAMILY A, 10; MAGEA10; 300468 MELANOMA ANTIGEN, FAMILY E, 1; MAGEE1; 601107 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 2; ABCC2; 605353 GHRELIN; 605695 CAPPUCCINO, MOUSE, HOMOLOG OF

December 24, 2003
New Entries:: 608365 T-COMPLEX PROTEIN 10-LIKE; TCP10L; 608366 KIAA1199; 608367 MYOPIA 4
Changed Entries:: 131445 EPENDYMOMA, FAMILIAL; 142000 HEMOGLOBIN--DELTA LOCUS; HBD; 147570 INTERFERON, GAMMA; IFNG; 151623 LI-FRAUMENI SYNDROME; LFS; 160700 MYOPIA 2; MYP2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 178990 MATRIX METALLOPROTEINASE 7; MMP7; 180200 RETINOBLASTOMA; RB1; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 191290 TYROSINE HYDROXYLASE; TH; 227400 FACTOR V DEFICIENCY; 300392 WAS GENE; WAS; 306700 HEMOPHILIA A; 310460 MYOPIA 1; MYP1; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 603065 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 2; NR1I2; 603221 MYOPIA 3; MYP3; 605608 CLAUDIN 14; CLDN14; 606869 HEXOSAMINIDASE A; HEXA; 607895 POLYCYSTIN 1-LIKE 3

December 23, 2003
New Entries:: 608362 STATHMIN-LIKE 3; STMN3; 608363 MICRODUPLICATION 22q11.2; 608364 EPITHELIAL PROTEIN LOST IN NEOPLASM
Changed Entries:: 139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 151442 STATHMIN 1; STMN1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1; 219000 FRASER SYNDROME; 312750 RETT SYNDROME; RTT; 600621 STATHMIN-LIKE 2; STMN2; 603959 CLAUDIN 16; CLDN16; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES

December 22, 2003
New Entries:: 607929 CCM2 GENE; CCM2; 608359 SULFOTRANSFERASE FAMILY 4A, MEMBER 1; SULT4A1; 608360 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8; LRRC8
Changed Entries:: 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; 263300 POLYCYTHEMIA VERA; 600880 BUDD-CHIARI SYNDROME; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2; 605371 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE-EXCHANGE FACTOR 2; ARFGEF2; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 606634 DERMCIDIN; DCD; 608300 N-ACETYLGLUTAMATE SYNTHASE

December 19, 2003
New Entries:: 608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; 608355 PARKES WEBER SYNDROME; 608356 OUTER DENSE FIBER OF SPERM TAILS 3; ODF3; 608357 SULFOTRANSFERASE FAMILY 1C, MEMBER 2; SULT1C2
Changed Entries:: 124092 INTERLEUKIN 10; IL10; 139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 163000 NEVI FLAMMEI, FAMILIAL MULTIPLE; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 185300 STURGE-WEBER SYNDROME; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 309470 MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 314995 ZINC FINGER PROTEIN 41; ZNF41; 602385 SULFOTRANSFERASE FAMILY 1C, MEMBER 1; SULT1C1; 608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION

December 18, 2003
New Entries:: 608351 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 11; IGSF11; 608352 ACROSIN-BINDING PROTEIN; ACRBP; 608353 ORNITHINE DECARBOXYLASE-LIKE PROTEIN
Changed Entries:: 117550 SOTOS SYNDROME; 138079 GLUCOKINASE; GCK; 156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1; 187500 TETRALOGY OF FALLOT; 209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL; 261600 PHENYLKETONURIA; 601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1; 603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; 606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2; 608232 LEUKEMIA, CHRONIC MYELOID; CML

December 17, 2003
New Entries:: 608347 DICARBONYL/L-XYLULOSE REDUCTASE; DCXR; 608349 HEMATOPOIETIC SH2 DOMAIN-CONTAINING PROTEIN; 608350 ENDOMUCIN
Changed Entries:: 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 146110 HYPOGONADOTROPIC HYPOGONADISM; 163200 NEVUS SEBACEUS OF JADASSOHN; 177020 PROTEINASE 3; PRTN3; 251200 MICROCEPHALY, PRIMARY; MCPH; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 270685 SPASTIC PARAPLEGIA 17; SPG17; 301050 ALPORT SYNDROME, X-LINKED; ATS; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 602647 NUCLEAR RNA EXPORT FACTOR 1; NXF1; 603189 SYNTAXIN 5A; STX5A; 604161 G PROTEIN-COUPLED RECEPTOR 54; GPR54; 604249 RETICULON 3; RTN3; 605286 CALPAIN 10; CAPN10; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 606746 CHROMOSOME 19 OPEN READING FRAME 10; C19ORF10; 608014 PROTEIN KINASE H11; 608111 PHD FINGER PROTEIN 9; PHF9; 608350 ENDOMUCIN

December 16, 2003
New Entries:: 608341 CYTOCHROME b5 REDUCTASE 1; 608342 CYTOCHROME b5 REDUCTASE 2; 608343 NADPH CYTOCHROME b5 OXIDOREDUCTASE; NCB5OR; 608344 HEAT-SHOCK 27-KD PROTEIN 9
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 139605 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 1; HES1; 146550 HYPOTRICHOSIS, MARIE UNNA TYPE; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 165720 OSTEOARTHRITIS; 173650 KINDLER SYNDROME; 180300 RHEUMATOID ARTHRITIS; RA; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 219000 FRASER SYNDROME; 230400 GALACTOSEMIA; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 312600 RETINITIS PIGMENTOSA 2; RP2; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601659 CHROMOSOME 21 OPEN READING FRAME 33; C21ORF33; 603901 ZINC FINGER PROTEIN 259; ZNF259; 604102 GLUTAMATE RECEPTOR, METABOTROPIC, 5; GRM5; 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 607754 MAKORIN 1; MKRN1; 608014 PROTEIN KINASE H11; 608297 MAKORIN 1 REGULATORY FACTOR

December 15, 2003
New Entries:: 300465 SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME-LIKE
Changed Entries:: 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; FEOM1; 147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO; 162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB; 185605 SYNAPTOTAGMIN 1; SYT1; 300032 ATR-X GENE; ATRX; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 309470 SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS; 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3; FEOM3; 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4; 608283 KINESIN FAMILY MEMBER 21A; KIF21A

December 12, 2003
New Entries:: 608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; 608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT; 608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
Changed Entries:: 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 112500 BRACHYDACTYLY, TYPE A1; BDA1; 117550 SOTOS SYNDROME; 132700 CYLINDROMATOSIS, FAMILIAL; CYLD; 134797 FIBRILLIN 1; FBN1; 159440 MYELIN PROTEIN ZERO; MPZ; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 190345 TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC; 193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A; 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4; 277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE; 300157 FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4; 300387 MENTAL RETARDATION, X-LINKED 63; MRX63; 400024 MOVED TO 415000; 415000 AZOOSPERMIA FACTOR 1; AZF1; 600297 CAUDAL-TYPE HOMEO BOX TRANSCRIPTION FACTOR 2; CDX2; 600726 INDIAN HEDGEHOG; IHH; 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9; 601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; PRKWNK4; 602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2; 603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1; 603681 OTOFERLIN; OTOF; 604990 SOLUTE CARRIER FAMILY 9, ISOFORM A3, REGULATORY FACTOR 1; SLC9A3R1; 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D

December 11, 2003
New Entries:: 608337 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 1; 608338 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 2; 608339 SYNTAXIN-BINDING PROTEIN 3; STXBP3
Changed Entries:: 100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1; 109750 BILIVERDIN REDUCTASE A; BLVRA; 111000 BLOOD GROUP--KIDD SYSTEM; JK; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 135820 FIBULIN 1; FBLN1; 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME; 140100 HAPTOGLOBIN; HP; 167870 PANIC DISORDER; 176940 S100 CALCIUM-BINDING PROTEIN A1; S100A1; 182230 SEPTOOPTIC DYSPLASIA; 300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC; 601089 FORKHEAD BOX F1; FOXF1; 601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST; 603250 FORKHEAD BOX F2; FOXF2; 603851 PAIRED-LIKE HOMEO BOX 2B; PHOX2B; 603903 SICKLE CELL ANEMIA; 606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA; 606694 NUCLEOPORIN, 155-KD; NUP155; 607967 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3;; 608220 DISC HERNIATION WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE; Clinical Synopsis for 607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I

December 10, 2003
New Entries:: 608333 DOCKING PROTEIN 4; DOK4; 608334 DOCKING PROTEIN 5; DOK5; 608335 CASEIN KINASE II-INTERACTING PROTEIN 1; 608336 TRANSMEMBRANE DOMAIN PROTEIN REGULATED IN ADIPOCYTES, 40-KD
Changed Entries:: 107400 PROTEASE INHIBITOR 1; PI; 144700 RENAL CELL CARCINOMA 1; RCC1; 159552 MYELOID CELL LEUKEMIA 1; MCL1; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164210 HEMIFACIAL MICROSOMIA; HFM; 164750 OMPHALOCELE; 181500 SCHIZOPHRENIA; SCZD; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 193670 WHIM SYNDROME; 248310 MALARIA, INTENSITY OF INFECTION IN; 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1; 312750 RETT SYNDROME; RTT; 600244 PROGRAMMED CELL DEATH 1; PDCD1; 600861 REGULATOR OF G PROTEIN SIGNALING 2; RGS2; 601106 REMOVED FROM DATABASE; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7; 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS; 605035 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1; 605074 RENAL CELL CARCINOMA, PAPILLARY; 605806 CADHERIN 7; CDH7; 605875 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 2; WASF2; 606043 ZINC FINGER PROTEIN 331; ZNF331; 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES; 607641 LOWER MOTOR NEURON DISEASE, PROGRESSIVE, WITHOUT SENSORY SYMPTOMS; 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1

December 9, 2003
New Entries:: 608324 NGF-INDUCED DIFFERENTIATION CLONE 67; 608325 BRAF35/HDAC COMPLEX, 80-KD SUBUNIT; 608326 STOMATIN-LIKE PROTEIN 1; STOML1; 608327 STOMATIN-LIKE PROTEIN 3; STOML3; 608329 CHROMOSOME 11 OPEN READING FRAME 9; C11ORF9; 608330 PSO4, S. CEREVISIAE, HOMOLOG OF; 608331 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 2;; 608332 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 3;
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107741 APOLIPOPROTEIN E; APOE; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 131240 ENDOTHELIN 1; EDN1; 133430 ESTROGEN RECEPTOR 1; ESR1; 136132 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3; 162150 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4; 232200 GLYCOGEN STORAGE DISEASE I; 264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300377 DYSTROPHIN; DMD; 300425 AUTISM, X-LINKED; 300451 ED1 GENE; ED1; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 307800 HYPOPHOSPHATEMIA, X-LINKED; 312170 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1; 313700 ANDROGEN RECEPTOR; AR; 600173 JANUS KINASE 3; JAK3; 600481 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2; 600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2; 600955 PROPROTEIN CONVERTASE 1 DEFICIENCY; 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9; 601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1; 601724 NEUROGENIC DIFFERENTIATION 1; NEUROD1; 601945 SPLICING FACTOR, ARGININE/SERINE-RICH, 8; SFRS8; 602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1; 602738 KARYOPHERIN BETA-1; KPNB1; 602901 KARYOPHERIN BETA-2; KPNB2; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; MADH3; 603494 NNX3 PROTEIN; 603503 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1; 604558 INDUCIBLE COSTIMULATOR; ICOS; 604615 EOMESODERMIN, XENOPUS, HOMOLOG OF; EOMES; 604653 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 604959 PHORBOL-12-MYRISTATE-13-ACETATE-INDUCED PROTEIN 1; PMAIP1; 605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5; 605340 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 7; CYP3A7; 605854 BCL2-BINDING COMPONENT 3; BBC3; 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C; 606224 NUCLEOTIDASE, 5-PRIME, CYTOSOLIC III; NT5C3; 606561 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 1;; 606582 DELTA-LIKE 1; DLL1; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 608177 EXOSTOSIN 1; EXT1; 608317 SISTER OF MAMMALIAN GRAINYHEAD; Clinical Synopsis for 113100 BRACHYDACTYLY, TYPE C; BDC; Clinical Synopsis for 118600 CHONDROCALCINOSIS 2; CCAL2; Clinical Synopsis for 193003 VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS; Clinical Synopsis for 193520 WATSON SYNDROME; Clinical Synopsis for 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4; Clinical Synopsis for 264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH; Clinical Synopsis for 309350 MELNICK-NEEDLES SYNDROME; MNS; Clinical Synopsis for 600955 PROPROTEIN CONVERTASE 1 DEFICIENCY

December 5, 2003
Changed Entries:: 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; FEOM1; 143100 HUNTINGTON DISEASE; HD; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY; 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4; 272120 SUDDEN INFANT DEATH SYNDROME; 300275 NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB; 309470 SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS; 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3; FEOM3; 601635 NEURAL TUBE DEFECT, FOLATE-RESISTANT; 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2; 608282 TRACE AMINE RECEPTOR 3; 608283 KINESIN FAMILY MEMBER 21A; KIF21A; 608317 SISTER OF MAMMALIAN GRAINYHEAD

December 4, 2003
New Entries:: 300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC; 608189 TROPICAL CALCIFIC PANCREATITIS; 608299 RING FINGER PROTEIN 34; RNF34; 608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1; 608310 ARGININOSUCCINATE LYASE; ASL; 608313 ARGINASE, LIVER; ARG1; 608314 SEPTIN 3; SEPT3; 608315 ELL-ASSOCIATED FACTOR 1; EAF1; 608319 PROSTEIN; 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1; 608321 TOLL/INTERLEUKIN-1 RECEPTOR DOMAIN-CONTAINING PROTEIN; 608322 KINESIN FAMILY MEMBER 21B
Changed Entries:: 107830 ARGINASE II; ARG2; 114010 CARBAMOYL PHOSPHATE SYNTHETASE/ASPARTATE TRANSCARBAMOYLASE/DIHYDROOROTASE;; 123660 CRYSTALLIN, GAMMA-A; CRYGA; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 142470 HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN; 146770 IMMUNOGLOBULIN LAMBDA-LIKE POLYPEPTIDE 1; IGLL1; 166800 OTOSCLEROSIS; OTSC1; 167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1; 207800 ARGININEMIA; 207900 ARGININOSUCCINICACIDURIA; 215700 CITRULLINEMIA, CLASSIC; 222700 LYSINURIC PROTEIN INTOLERANCE; LPI; 237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO; 300127 OLIGOPHRENIN 1; OPHN1; 300187 SUSHI REPEAT-CONTAINING PROTEIN, X CHROMOSOME; SRPX; 300377 DYSTROPHIN; DMD; 300389 RETINITIS PIGMENTOSA 3; RP3; 300426 MENTAL RETARDATION, X-LINKED 34; MRX34; 308100 ICHTHYOSIS, X-LINKED; 310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1; 310600 NORRIE DISEASE; NDP; 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; 312060 PROPERDIN DEFICIENCY, X-LINKED; 312170 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;; 602661 TUBULIN, BETA-4; 602667 NBS1 GENE; NBS1; 604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50; 604157 SECRETED FRIZZLED-RELATED PROTEIN 2; SFRP2; 604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1; 606228 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1; 606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2; 606478 PROTECTION OF TELOMERES 1; 606494 SIALYLTRANSFERASE 6; SIAT6; 608222 ADENYLOSUCCINATE LYASE; ADSL; 608300 N-ACETYLGLUTAMATE SYNTHASE; 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1; Clinical Synopsis for 117550 SOTOS SYNDROME

December 3, 2003
New Entries:: 300464 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3; 608308 ANKYRIN REPEAT AND BTB/POZ DOMAIN CONTAINING 1; ABTB1; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 608311 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL D-ASPARTATE-LIKE 1B; GRINL1B; 608312 TWIST NEIGHBOR; TWISTNB; 608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2; 608317 SISTER OF MAMMALIAN GRAINYHEAD; 608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4
Changed Entries:: 129010 EARLY GROWTH RESPONSE 2; EGR2; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 130010 EHLERS-DANLOS SYNDROME, TYPE II; 130020 EHLERS-DANLOS SYNDROME, TYPE III; 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT; 130080 EHLERS-DANLOS SYNDROME, TYPE VIII; 138290 GLUTAMATE-AMMONIA LIGASE; GLUL; 152690 THYROID AUTOANTIGEN, 70-KD; G22P1; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 158340 MUCIN 1, TRANSMEMBRANE; MUC1; 163890 SYNUCLEIN, ALPHA; SNCA; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 164012 NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1; 180300 RHEUMATOID ARTHRITIS; RA; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2; 225400 EHLERS-DANLOS SYNDROME, TYPE VI; 300335 ANGIOTENSIN I CONVERTING ENZYME 2; ACE2; 600244 PROGRAMMED CELL DEATH 1; PDCD1; 601761 CASPASE 7, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP7; 601797 ABSENT IN MELANOMA 1; AIM1; 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2; 605402 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1; 605723 PROGRAMMED CELL DEATH 1 LIGAND 2; PDCD1LG2; 607659 ELL-ASSOCIATED FACTOR 2; EAF2; 607925 B- AND T-LYMPHOCYTE ATTENUATOR; BTLA; 608308 ANKYRIN REPEAT AND BTB/POZ DOMAIN CONTAINING 1; ABTB1

December 2, 2003
New Entries:: 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 608304 CANCER/TESTIS ANTIGEN 3; CTAG3; 608305 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER; 608306 TRANSCRIPTION FACTOR Sp8; SP8
Changed Entries:: 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147670 INSULIN RECEPTOR; INSR; 147671 INSULIN RECEPTOR-RELATED RECEPTOR; INSRR; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 168450 PARATHYROID HORMONE; PTH; 171300 PHEOCHROMOCYTOMA; 173515 GLYCOPROTEIN IX, PLATELET; GP9; 176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70; 180300 RHEUMATOID ARTHRITIS; RA; 185605 SYNAPTOTAGMIN 1; SYT1; 188400 DIGEORGE SYNDROME; DGS; 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE; 266200 PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 480000 SEX-DETERMINING REGION Y; SRY; 600284 ELONGATION FACTOR RNA POLYMERASE II; ELL; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601556 ATAXIN 1; ATX1; 601874 ELONGATION FACTOR, RNA POLYMERASE II, 2; ELL2; 602044 UNCOUPLING PROTEIN 3; UCP3; 602054 T-BOX 1; TBX1; 606286 DEAD/H BOX 43; DDX43; 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I; OPTA1; 607659 ELL-ASSOCIATED FACTOR 2; EAF2

December 1, 2003
New Entries:: 608295 DOWNREGULATED IN RENAL CELL CARCINOMA 1; 608296 FIBROBLAST GROWTH FACTOR, ACIDIC, INTRACELLULAR BINDING PROTEIN; FIBP; 608297 MAKORIN 1 REGULATORY FACTOR; 608298 URB, MOUSE, HOMOLOG OF; 608300 N-ACETYLGLUTAMATE SYNTHASE; 608301 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 2; LGI2; 608302 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 3; LGI3; 608303 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 4; LGI4
Changed Entries:: 116806 CATENIN, BETA-1; CTNNB1; 163920 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 1; HMGN1; 180300 RHEUMATOID ARTHRITIS; RA; 185490 SUPEROXIDE DISMUTASE, EXTRACELLULAR; SOD3; 237310 HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 605036 ZINC FINGER PROTEIN 219; ZNF219; 606043 ZINC FINGER PROTEIN 331; ZNF331; 607754 MAKORIN 1; MKRN1; 608298 URB, MOUSE, HOMOLOG OF

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