OMIM Update List for February, 2003

PubMed

Nucleotide

Protein

Genome

OMIM Update List for February, 2003

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February 28, 2003
New Entries:: 607574 ARYLSULFATASE A; ARSA; 607590 BBS7 GENE; BBS7; 607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME; 607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1
Changed Entries:: 102545 ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2; 106210 ANIRIDIA, TYPE II; AN2; 108300 STICKLER SYNDROME, TYPE I; STL1; 120200 COLOBOMA, OCULAR; 123830 CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP; 134797 FIBRILLIN 1; FBN1; 138945 GRANULIN; GRN; 140050 GRANZYME A; GZMA; 143100 HUNTINGTON DISEASE; HD; 150330 LAMIN A/C; LMNA; 167870 PANIC DISORDER; 174050 POLYCYSTIC LIVER DISEASE; PCLD; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 176807 PROSTATE CANCER; 177060 PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1; 186855 T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA 2; TAL2; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191170 TUMOR PROTEIN p53; TP53; 209901 BBS1 GENE; BBS1; 219700 CYSTIC FIBROSIS; CF; 246300 LEPROSY, SUSCEPTIBILITY TO; 250100 METACHROMATIC LEUKODYSTROPHY; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 271225 SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES; 272200 MULTIPLE SULFATASE DEFICIENCY; 300180 ARYLSULFATASE E; ARSE; 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX; 300205 EMOPAMIL-BINDING PROTEIN; EBP; 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1; 305620 FRONTOMETAPHYSEAL DYSPLASIA; 600005 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II TRANSACTIVATOR; MHC2TA; 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600725 SONIC HEDGEHOG; SHH; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6; 601634 NEURAL TUBE DEFECT, FOLATE-SENSITIVE; 601861 REGULATORY FACTOR X-ASSOCIATED PROTEIN; RFXAP; 601883 DNA FRAGMENTATION FACTOR, 40-KD, BETA SUBUNIT; DFFB; 602322 TELOMERASE RNA COMPONENT; TERC; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE; SGK; 605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL; 605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5; 605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8; 605719 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 5; WBSCR5; 606594 SET DOMAIN-CONTAINING PROTEIN 7; 606635 PROTEASE, SERINE, 7; PRSS7; 606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4; 606766 AZOOSPERMIA, NONOBSTRUCTIVE; 607156 ALPHA-2,3-SIALYLTRANSFERASE VI; 607172 LKB1-INTERACTING PROTEIN 1; 607297 NERVE INJURY-INDUCED PROTEIN 2; NINJ2; 607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1; 607452 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 2; GABARAPL2; 607572 LEPROSY, SUSCEPTIBILITY TO, 2

February 28, 2003
New Entries:: 607566 EPM2A GENE; EPM2A; 607586 AMYOTROPHIC LATERAL SCLEROSIS 2 CHROMOSOME REGION, CANDIDATE 8; ALS2CR8; 607587 INTERLEUKIN 17D; IL17D; 607588 PEPTIDYL-PROLYL ISOMERASE-LIKE 2; PPIL2; 607589 SERUM/GLUCOCORTICOID-REGULATED KINASE 2; SGK2; 607591 SERUM/GLUCOCORTICOID-REGULATED KINASE-LIKE PROTEIN; SGKL; Clinical Synopsis for 607330 LATHOSTEROLOSIS; Clinical Synopsis for 607500 CHROMOSOME 18p DELETION SYNDROME
Changed Entries:: 108120 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1; AMCD1; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 114020 CADHERIN 2; CDH2; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1; 122600 COSTOVERTEBRAL SEGMENTATION ANOMALIES; 123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 126453 DOPAMINE RECEPTOR D5; DRD5; 127100 DWARFISM, LEVI TYPE; 133700 EXOSTOSES, MULTIPLE, TYPE I; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 135300 FIBROMATOSIS, GINGIVAL, 1; GINGF; 135400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS; 145500 HYPERTENSION, ESSENTIAL; 145700 HYPERTRICHOSIS UNIVERSALIS; 150210 LACTOTRANSFERRIN; LTF; 151100 LEOPARD SYNDROME; 152427 LONG QT SYNDROME 2; LQT2; 153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA; 156569 METHYLGUANINE-DNA METHYLTRANSFERASE; MGMT; 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 175850 POROKERATOSIS PLANTARIS, PALMARIS, ET DISSEMINATA; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 176912 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, BETA; PRKAR2B; 180200 RETINOBLASTOMA; RB1; 181500 SCHIZOPHRENIA; SCZD; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 190990 TROPOMYOSIN 2; TPM2; 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2; 191092 TUBEROUS SCLEROSIS 2 GENE; TSC2; 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1; 194190 WOLF-HIRSCHHORN SYNDROME; WHS; 209901 BBS1 GENE; BBS1; 217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2; 219100 CUTIS LAXA; 223320 DIVERTICULOSIS, SMALL-INTESTINAL; 223550 DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION; 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C; 254780 MYOCLONIC EPILEPSY OF LAFORA; 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG; 256550 NEURAMINIDASE DEFICIENCY; 258660 OPTIC NEUROPATHY, ANTERIOR ISCHEMIC; 260400 SHWACHMAN-DIAMOND SYNDROME; SDS; 265000 PTERYGIUM SYNDROME; 272800 TAY-SACHS DISEASE; TSD; 274600 PENDRED SYNDROME; PDS; 300004 CORPUS CALLOSUM, AGENESIS OF, WITH SEIZURES AND MICRENCEPHALY; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; 306400 GRANULOMATOUS DISEASE, CHRONIC; CGD; 309400 MENKES DISEASE; 600023 CADHERIN 11; CDH11; 600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1; 600882 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, B; CMT2B; 601145 CYSTATIN B; CSTB; 601153 FRAGILE HISTIDINE TRIAD GENE; FHIT; 601289 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 601680 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B; AMCD2B; 601699 PROSTAGLANDIN I2 SYNTHASE; PTGIS; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7; 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE; SGK; 603008 CADHERIN 8; CDH8; 603540 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1; 603680 SPINOCEREBELLAR ATAXIA 8; SCA8; 607261 ELLIS-VAN CREVELD SYNDROME GENE 2; EVC2; 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO; 607586 AMYOTROPHIC LATERAL SCLEROSIS 2 CHROMOSOME REGION, CANDIDATE 8; ALS2CR8; 607589 SERUM/GLUCOCORTICOID-REGULATED KINASE 2; SGK2; Clinical Synopsis for 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; Clinical Synopsis for 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; Clinical Synopsis for 152427 LONG QT SYNDROME 2; LQT2; Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1; Clinical Synopsis for 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; Clinical Synopsis for 184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES; Clinical Synopsis for 185800 SYMPHALANGISM, PROXIMAL; SYM1; Clinical Synopsis for 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1; Clinical Synopsis for 186570 TARSAL-CARPAL COALITION SYNDROME; TCC; Clinical Synopsis for 192500 LONG QT SYNDROME 1; LQT1; Clinical Synopsis for 209900 BARDET-BIEDL SYNDROME; BBS; Clinical Synopsis for 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE; Clinical Synopsis for 249700 LANGER MESOMELIC DYSPLASIA; Clinical Synopsis for 250100 METACHROMATIC LEUKODYSTROPHY; Clinical Synopsis for 600919 LONG QT SYNDROME 4; LQT4; Clinical Synopsis for 602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM; Clinical Synopsis for 603830 LONG QT SYNDROME 3; LQT3

February 26, 2003
New Entries:: 607583 PEROXISOME BIOGENESIS FACTOR 11G; Clinical Synopsis for 300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; Clinical Synopsis for 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO; Clinical Synopsis for 607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION
Changed Entries:: 106410 ANKYRIN 2; ANK2; 107748 APEX NUCLEASE; APEX; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 126350 DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2; 126453 DOPAMINE RECEPTOR D5; DRD5; 146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4; 147620 INTERLEUKIN 6; IL6; 147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA; 148100 KELOIDS; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3; 246300 LEPROSY, SUSCEPTIBILITY TO; 260350 PANCREATIC CARCINOMA; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300292 FORKHEAD BOX P3; FOXP3; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 600919 LONG QT SYNDROME 4; LQT4; 601699 PROSTAGLANDIN I2 SYNTHASE; PTGIS; 603866 PEROXISOME BIOGENESIS FACTOR 11A; PEX11A; 605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1; 605339 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 2; FXR2; 605353 GHRELIN; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606373 FORMIN 2; FMN2; 606928 BONE MINERAL DENSITY VARIATION 3; Clinical Synopsis for 218400 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR

February 25, 2003
New Entries:: 607577 LYSOSOMAL APYRASE-LIKE PROTEIN 1; LYSAL1; 607578 BREATH-HOLDING SPELLS; 607579 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER; 607580 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER; 607581 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 8; SLC22A8; 607582 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 6; SLC22A6
Changed Entries:: 102545 ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2; 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 107741 APOLIPOPROTEIN E; APOE; 109150 MACHADO-JOSEPH DISEASE; MJD; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 134797 FIBRILLIN 1; FBN1; 142409 HEPATOCYTE GROWTH FACTOR; HGF; 151410 BREAKPOINT CLUSTER REGION; BCR; 154700 MARFAN SYNDROME; MFS; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 165500 OPTIC ATROPHY 1; OPA1; 167420 PAIRED MESODERM HOMEO BOX 1; PMX1; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 176300 TRANSTHYRETIN; TTR; 176891 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1; PTPRZ1; 177400 BUTYRYLCHOLINESTERASE; BCHE; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191200 TUNE DEAFNESS; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY; 243400 ISONIAZID INACTIVATION; 246300 LEPROSY, SUSCEPTIBILITY TO; 260540 PARKINSON-DEMENTIA SYNDROME; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 600375 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; XRCC2; 600675 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; XRCC3; 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 601007 LEPTIN RECEPTOR; LEPR; 601015 NIEMANN-PICK DISEASE, TYPE C2 GENE; NPC2; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4; 604995 SOLUTE CARRIER FAMILY 22, MEMBER 7; SLC22A7; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 606368 APOLIPOPROTEIN A-V; APOA5; 606439 SPG3A GENE; SPG3A; 607067 SAITOHIN; 607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12; 607097 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER; 607549 PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE; 607573 VCY2-INTERACTING PROTEIN 1; VCY2IP1; 607578 BREATH-HOLDING SPELLS; 607579 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER; 607580 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER; 607581 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 8; SLC22A8; 607582 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 6; SLC22A6

February 24, 2003
New Entries:: 607573 VCY2-INTERACTING PROTEIN 1; VCY2IP1; 607575 CAT EYE SYNDROME CHROMOSOME REGION, CANDIDATE 1; CECR1; 607576 CAT EYE SYNDROME CHROMOSOME REGION, CANDIDATE 2; CECR2; Clinical Synopsis for 607569 MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT
Changed Entries:: 101000 NEUROFIBROMATOSIS, TYPE II; NF2; 102545 ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 116806 CATENIN, BETA-1; CTNNB1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 132600 PILOMATRIXOMA; 154750 MARFANOID HYPERMOBILITY SYNDROME; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 163890 SYNUCLEIN, ALPHA; SNCA; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 186855 T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA 2; TAL2; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 191170 TUMOR PROTEIN p53; TP53; 268800 SANDHOFF DISEASE; 272800 TAY-SACHS DISEASE; TSD; 277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED; 300126 DYSKERIN; DKC1; 300234 UBIQUITOUSLY EXPRESSED TRANSCRIPT; UXT; 400012 VARIABLY CHARGED, Y CHROMOSOME; VCY; 400013 VARIABLY CHARGED, Y CHROMOSOME, 2; VCY2; 600109 PROXIMAL MYOTONIC MYOPATHY; PROMM; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600415 TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA; 601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 601933 CRYPTOCHROME 1; CRY1; 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1; 602408 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602668 DYSTROPHIA MYOTONICA 2; DM2; 602700 E1A-BINDING PROTEIN, 300-KD; EP300; 603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2; 603680 SPINOCEREBELLAR ATAXIA 8; SCA8; 603732 CRYPTOCHROME 2; CRY2; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 604092 TTK PROTEIN KINASE; TTK; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1; 604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20; 604805 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12; 605293 OPTIC ATROPHY 4; OPA4; 605461 INTERLEUKIN 17 RECEPTOR; IL17R; 605825 HEME-BINDING PROTEIN 2; HEBP2; 606012 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 18; DFNA18; 606665 OPSIN 4; OPN4; 606829 FRDA GENE; FRDA; 607156 ALPHA-2,3-SIALYLTRANSFERASE VI; 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO; 607500 CHROMOSOME 18p DELETION SYNDROME; 607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC; 607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION; Clinical Synopsis for 254780 EPILEPSY, PROGRESSIVE MYOCLONIC 2; EPM2A; Clinical Synopsis for 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

February 21, 2003
New Entries:: 300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; 607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION; 607569 MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT; 607570 DEAD/H BOX 40; DDX40; 607571 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL OXODICARBOXYLATE CARRIER),; 607572 LEPROSY, SUSCEPTIBILITY TO, 2
Changed Entries:: 121020 MOVED TO 160120; 123830 CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 160100 MOVED TO 160120; 160120 EPISODIC ATAXIA, TYPE 1; EA1; 160500 MYOPATHY, DISTAL 1; MPD1; 174050 POLYCYSTIC LIVER DISEASE; PCLD; 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 176430 PREMATURE CENTROMERE DIVISION; PCD; 177060 PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 212070 CARBOXYPEPTIDASE N DEFICIENCY; 246300 LEPROSY, SUSCEPTIBILITY TO; 261100 MEGALOBLASTIC ANEMIA 1; MGA1; 300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; 301500 FABRY DISEASE; 516003 COMPLEX I, SUBUNIT ND4; MTND4; 590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 601663 ESTROGEN RECEPTOR 2; ESR2; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; PRKWNK4; 602002 ZYXIN; ZYX; 602219 SAL-LIKE 2; SALL2; 602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS; 602917 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1; 602997 CUBILIN; CUBN; 603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1; 603811 BARRIER-TO-AUTOINTEGRATION FACTOR 1; BANF1; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1; 605361 SPINOCEREBELLAR ATAXIA 14; SCA14; 605799 AMNIONLESS, MOUSE, HOMOLOG OF; AMN; 606070 MYOPATHY, DISTAL 2; MPD2; 607568 MMAB GENE; MMAB; Clinical Synopsis for 121020 MOVED TO 160120; Clinical Synopsis for 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD; Clinical Synopsis for 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; Clinical Synopsis for 160100 MOVED TO 160120

February 20, 2003
New Entries:: 607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS; 607568 MMAB GENE; MMAB
Changed Entries:: 113705 BREAST CANCER, TYPE 1; BRCA1; 117000 CENTRAL CORE DISEASE OF MUSCLE; 120940 COMPLEMENT COMPONENT 9; C9; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; 147620 INTERLEUKIN 6; IL6; 147780 INTERLEUKIN 4; IL4; 176920 PROTEUS SYNDROME; 177900 PSORIASIS SUSCEPTIBILITY; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 251110 METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS; 255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA; 300126 DYSKERIN; DKC1; 600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2; 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF; 601282 PLECTIN 1; PLEC1; 601530 SEQUESTOSOME 1; SQSTM1; 602322 TELOMERASE RNA COMPONENT; TERC; 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1; 603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER; 603733 PROSTATE CANCER OVEREXPRESSED GENE 1; POV1; 604531 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 2; NCR2; 605127 OPTICIN; OPTC; 605317 FORKHEAD BOX P2; FOXP2; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607340 G PROTEIN-COUPLED RECEPTOR 51; GPR51; 607481 MMAA GENE; MMAA; 607568 MMAB GENE; MMAB; Clinical Synopsis for 607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS

February 19, 2003
Changed Entries:: 107670 APOLIPOPROTEIN A-II; APOA2; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 147780 INTERLEUKIN 4; IL4; 150370 LAMININ RECEPTOR 1; LAMR1; 152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4; 173445 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1; PECAM1; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 176640 PRION PROTEIN; PRNP; 177900 PSORIASIS SUSCEPTIBILITY; 259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE; 300377 DYSTROPHIN; DMD; 601241 HISTONE DEACETYLASE 1; HDAC1; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1; 602352 GONADOTROPIN-RELEASING HORMONE 2; GNRH2; 602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3; 602489 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED; 602935 FATTY ACID AMIDE HYDROLASE; FAAH; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 603398 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 1; WISP1; 603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2; 603427 PERIOD, DROSOPHILA, HOMOLOG OF, 3; PER3; 604478 CHROMOBOX HOMOLOG 5; CBX5; 604480 SIRTUIN 2; SIRT2; 604511 CHROMOBOX HOMOLOG 1; CBX1; 605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2; 606384 UBIQUITIN PROTEIN LIGASE NEDD4-LIKE; NEDD4L; 606764 GASTROINTESTINAL STROMAL TUMOR; GIST; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

Changed Entries:

February 14, 2003
Changed Entries:: 100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND; 117300 DEMENTIA, FAMILIAL DANISH; FDD; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 148840 KLEINE-LEVIN HIBERNATION SYNDROME; 157300 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 1; 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 176500 DEMENTIA, FAMILIAL BRITISH; FBD; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR; 220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC; 248800 MARINESCO-SJOGREN SYNDROME; MSS; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600464 ADP-RIBOSYLATION FACTOR 6; ARF6; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 601462 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602322 TELOMERASE RNA COMPONENT; TERC; 602488 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 2; PSCD2; 603324 GAP JUNCTION PROTEIN, BETA-3; GJB3; 603901 ZINC FINGER PROTEIN 259; ZNF259; 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 605290 OPTIC ATROPHY 1 GENE; OPA1; 606125 TRIPARTITE MOTIF-CONTAINING PROTEIN 8; TRIM8; 607205 PUMILIO, DROSOPHILA, HOMOLOG OF, 2; PUM2; 607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC; Clinical Synopsis for 209900 BARDET-BIEDL SYNDROME; BBS

February 13, 2003
New Entries:: 607563 SOLUTE CARRIER FAMILY 17, MEMBER 6; SLC17A6; 607564 TRIPARTITE MOTIF-CONTAINING PROTEIN 6; TRIM6
Changed Entries:: 109092 SJOGREN SYNDROME ANTIGEN A1; SSA1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 181500 SCHIZOPHRENIA; SCZD; 188825 TISSUE INHIBITOR OF METALLOPROTEINASE 2; TIMP2; 188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3; 191160 TUMOR NECROSIS FACTOR; TNF; 192975 INTEGRIN, ALPHA-4; ITGA4; 254780 EPILEPSY, PROGRESSIVE MYOCLONIC 2; EPM2A; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 305370 TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600755 SYNAPSIN II; SYN2; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 602113 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2; 602341 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16; 602390 HEMOCHROMATOSIS, JUVENILE; JH; 602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7; 603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1; 604250 HEMOCHROMATOSIS, TYPE 3; HFE3; 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3; 605208 SOLUTE CARRIER FAMILY 17, MEMBER 7; SLC17A7; 605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5; 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 607520 ZYGOTE ARREST 1; ZAR1; 607557 VESICULAR GLUTAMATE TRANSPORTER 3; Clinical Synopsis for 277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

February 12, 2003
New Entries:: 300419 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 54; MRX54; 607559 MAHOGUNIN, RING FINGER 1; MGRN1; 607560 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARHGEF2; 607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES; 607562 INTERLEUKIN 23 RECEPTOR
Changed Entries:: 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2; 109650 BEHCET SYNDROME; 124200 DARIER-WHITE DISEASE; DAR; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 146880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1; 161560 INTERLEUKIN 12A; IL12A; 161561 INTERLEUKIN 12B; IL12B; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 176807 PROSTATE CANCER; 180300 RHEUMATOID ARTHRITIS; RA; 180860 SILVER-RUSSELL SYNDROME; SRS; 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; 192975 INTEGRIN, ALPHA-4; ITGA4; 218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY; 254780 EPILEPSY, PROGRESSIVE MYOCLONIC 2; EPM2A; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 272430 COLD-INDUCED SWEATING SYNDROME; CISS; 300276 ECTODYSPLASIN RECEPTOR, X-LINKED; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 601022 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE; 602354 LINKER FOR ACTIVATION OF T CELLS; LAT; 602589 FUCOSYLTRANSFERASE 8; FUT8; 603190 PROTEIN ARGININE N-METHYLTRANSFERASE 3; 604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 605580 INTERLEUKIN 23-ALPHA; IL23A; 607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A; 607498 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3; Clinical Synopsis for 270685 SPASTIC PARAPLEGIA 17; SPG17

February 11, 2003
New Entries:: 607556 DERMIS-EXPRESSED PROTEIN 1, MOUSE, HOMOLOG OF; 607557 VESICULAR GLUTAMATE TRANSPORTER 3; 607558 SEC14-LIKE 2; SEC14L2; Clinical Synopsis for 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; Clinical Synopsis for 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1; Clinical Synopsis for 607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4; Clinical Synopsis for 607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5
Changed Entries:: 107285 SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI; 112200 BLUE RUBBER BLEB NEVUS; 118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1; 118493 CHOLINERGIC RECEPTOR, MUSCARINIC, 2; CHRM2; 123960 CYTOCHROME P450, SUBFAMILY IIA; CYP2A; 129010 EARLY GROWTH RESPONSE 2; EGR2; 130130 ELASTASE 2; ELA2; 130160 ELASTIN; ELN; 138945 GRANULIN; GRN; 142976 HOMEO BOX C13; HOXC13; 150200 CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1; 160900 DYSTROPHIA MYOTONICA 1; 177720 PSEUDOHYPERKALEMIA, FAMILIAL, DUE TO RED CELL LEAK; 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B; 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; 188390 PROTHYMOSIN, ALPHA; PTMA; 190195 TRANSGLUTAMINASE 1; TGM1; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 218040 COSTELLO SYNDROME; 227650 FANCONI ANEMIA; FA; 242300 ICHTHYOSIS, LAMELLAR, 1; LI1; 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; 276902 USHER SYNDROME, TYPE III; USH3; 600140 CREB-BINDING PROTEIN; CREBBP; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 600695 MOVED TO 601434; 600788 TRANSCRIPTION ELONGATION FACTOR B, 1; TCEB1; 600795 DEMENTIA, FAMILIAL NONSPECIFIC; 600832 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER A; ANP32A; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601021 NUCLEOPORIN, 98-KD; NUP98; 601248 BRIDGING INTEGRATOR 1; BIN1; 601408 ZINC FINGER PROTEIN 220; ZNF220; 601434 S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A; 601504 SEC14-LIKE 1; SEC14L1; 601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST; 602402 FORKHEAD BOX C2; FOXC2; 602668 DYSTROPHIA MYOTONICA 2; DM2; 602917 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1; 604229 PETERS ANOMALY; 606397 USHER SYNDROME TYPE III GENE; USH3A; 606437 MYOKYMIA WITH NEONATAL EPILEPSY; 606583 PEROXIREDOXIN 5; PRDX5; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; 607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4; 607505 PAS DOMAIN-CONTAINING SERINE/THREONINE KINASE; PASK; Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE; Clinical Synopsis for 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1; Clinical Synopsis for 255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA; Clinical Synopsis for 607498 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3; Clinical Synopsis for 607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6

February 10, 2003
New Entries:: 607554 ATRIAL FIBRILLATION, FAMILIAL; ATFB; 607555 ATP-DEPENDENT INTERFERON-RESPONSIVE PROTEIN; ADIR; Clinical Synopsis for 603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE
Changed Entries:: 101900 ACROKERATOSIS VERRUCIFORMIS; AKV; 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2; 108745 ATPase, H+ TRANSPORTING, LYSOSOMAL, 16-KD, V0 SUBUNIT C; ATP6V0C; 115470 CAT EYE SYNDROME; CES; 121012 GAP JUNCTION PROTEIN, ALPHA-4; GJA4; 142460 SYNDECAN 2; SDC2; 147935 PROTEASE INHIBITOR 4; PI4; 160740 MYOSIN, HEAVY CHAIN 2, SKELETAL MUSCLE, ADULT; MYH2; 212060 CARBIMAZOLE SENSITIVITY; 220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1; 227260 FACIAL ECTODERMAL DYSPLASIA; 250100 METACHROMATIC LEUKODYSTROPHY; 256000 LEIGH SYNDROME; LS; 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED; 600085 PROTEIN-TYROSINE KINASE SYK; SYK; 600667 FRIZZLED, DROSOPHILA, HOMOLOG OF, 2; FZD2; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP; 601265 NODAL, MOUSE, HOMOLOG OF; NODAL; 601603 LYMPHOCYTE CYTOSOLIC PROTEIN 2; LCP2; 601933 CRYPTOCHROME 1; CRY1; 602210 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 6; EIF3S6; 602289 DR1-ASSOCIATED PROTEIN 1; DRAP1; 603621 FORKHEAD BOX H1; FOXH1; 603732 CRYPTOCHROME 2; CRY2; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; 606654 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 7; 606665 OPSIN 4; OPN4; 606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; 607426 COENZYME Q10 DEFICIENCY; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

February 6, 2003
New Entries:: 607541 CORNEAL DYSTROPHY, AVELLINO TYPE; ACD; 607547 RIBOSOMAL PROTEIN L39-LIKE; RPL39L; 607548 RADIAL SPOKEHEAD-LIKE 1; RSHL1; 607549 PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE; 607550 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 607551 STROMAL CELL-DERIVED FACTOR 2-LIKE 1; SDF2L1; 607553 EPIPLAKIN 1; EPPK1
Changed Entries:: 101850 ACROKERATOELASTOIDOSIS; AKE; 107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD; 121900 CORNEAL DYSTROPHY, GRANULAR TYPE; 122200 CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1; 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; 162091 SCHWANNOMATOSIS; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 176270 PRADER-WILLI SYNDROME; PWS; 180500 RIEGER SYNDROME, TYPE 1; RIEG1; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 235200 HEMOCHROMATOSIS; HFE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300067 LISSENCEPHALY, X-LINKED; 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 300121 DOUBLECORTIN; DCX; 308205 ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME; 516002 COMPLEX I, SUBUNIT ND3; MTND3; 600682 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 601090 FORKHEAD BOX CI; FOXC1; 601333 SUPPRESSOR OF TY 6, S. CEREVISIAE, HOMOLOG OF; SUPT6H; 601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1; 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2; 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI; 602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1; 602390 HEMOCHROMATOSIS, JUVENILE; JH; 603654 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 603877 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 603878 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 603879 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 603880 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 604178 RIBOSOMAL PROTEIN L18A; RPL18A; 604250 HEMOCHROMATOSIS, TYPE 3; HFE3; 605353 GHRELIN; 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606538 MYOSIN IC; MYO1C; 607108 PAIRED BOX GENE 6; PAX6; 607115 CINCA SYNDROME; CINCA; 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; 607144 DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE; 607541 CORNEAL DYSTROPHY, AVELLINO TYPE; ACD

February 6, 2003
New Entries:: 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607543 SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM; 607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC; 607545 STEROL C4-METHYLOXIDASE-LIKE; SC4MOL; 607546 CD200 RECEPTOR; Clinical Synopsis for 300125 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2; Clinical Synopsis for 607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6
Changed Entries:: 102910 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, BETA SUBUNIT;; 106410 ANKYRIN 2; ANK2; 107680 APOLIPOPROTEIN A-I; APOA1; 107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 114550 HEPATOCELLULAR CARCINOMA; 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7; 121201 EPILEPSY, BENIGN NEONATAL, 2; EBN2; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8; 123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9; 125240 DECAY-ACCELERATING FACTOR FOR COMPLEMENT; DAF; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 133430 ESTROGEN RECEPTOR 1; ESR1; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1; 147670 INSULIN RECEPTOR; INSR; 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME; 152427 LONG QT SYNDROME 2; LQT2; 154950 MAX PROTEIN; MAX; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 173350 PLASMINOGEN; PLG; 173870 ADP-RIBOSYLTRANSFERASE; ADPRT; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 176760 PROLACTIN; PRL; 180380 RHODOPSIN; RHO; 182790 SPECTRIN, BETA, NONERYTHROCYTIC, 1; SPTBN1; 184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; 188060 THROMBOSPONDIN I; THBS1; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 192500 LONG QT SYNDROME 1; LQT1; 194470 ZINC, ELEVATED PLASMA; 208900 ATAXIA-TELANGIECTASIA; AT; 214100 ZELLWEGER SYNDROME; ZS; 220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1; 254200 MYASTHENIA GRAVIS; MG; 270420 SODIUM DIARRHEA, CONGENITAL; 272120 SUDDEN INFANT DEATH SYNDROME; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 309845 MOESIN; MSN; 516060 ATP SYNTHASE 6; MTATP6; 600021 MAX DIMERIZATION PROTEIN; MAD; 600161 PRADER-WILLI/ANGELMAN REGION 1; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600349 INHIBITOR OF DNA BINDING 1; ID1; 600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1; 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2; 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C; 600877 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 6; KCNJ6; 600919 LONG QT SYNDROME 4; LQT4; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601803 PALLISTER-KILLIAN SYNDROME; PKS; 602064 MYO-INOSITOL MONOPHOSPHATASE 1; IMPA1; 602131 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT cDNA 3; TSSC3; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602232 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3; KCNQ3; 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2; 602322 TELOMERASE RNA COMPONENT; TERC; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; 602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE;; 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4; 603101 CARBOXYPEPTIDASE B2, PLASMA; CPB2; 603240 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE-ANTISENSE;; 603504 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A; CDC14A; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4; 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;; 603830 LONG QT SYNDROME 3; LQT3; 603852 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT cDNA 4; TSSC4; 603853 PAN-HEMATOPOIETIC EXPRESSION GENE; PHEMX; 603867 PEROXISOME BIOGENESIS FACTOR 11B; PEX11B; 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1; 604255 LADY BIRD LATE, DROSOPHILA, HOMOLOG OF, 1; 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B; 604433 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3;; 604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5;; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605132 TRANSDUCIN-LIKE ENHANCER OF SPLIT 4; TLE4; 605340 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 7; CYP3A7; 605722 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 16; KCNJ16; 606463 GLUCOSIDASE, ACID BETA; GBA; 606530 CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1; 606594 SET DOMAIN-CONTAINING PROTEIN 7; 607102 WILMS TUMOR 1 GENE; WT1; 607357 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 5; KCNQ5; 607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5; 607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6; 607546 CD200 RECEPTOR; Clinical Synopsis for 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME; Clinical Synopsis for 157300 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 1; Clinical Synopsis for 162091 SCHWANNOMATOSIS; Clinical Synopsis for 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE; Clinical Synopsis for 600795 DEMENTIA, FAMILIAL NONSPECIFIC; Clinical Synopsis for 600919 LONG QT SYNDROME 4; LQT4; Clinical Synopsis for 603830 LONG QT SYNDROME 3; LQT3

February 4, 2003
New Entries:: 607504 BENIGN SEXUAL HEADACHE; 607508 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5; 607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6; 607534 YY1-ASSOCIATED FACTOR 2; YAF2; 607535 RING1- AND YY1-BINDING PROTEIN; RYBP; 607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1; 607537 MASTERMIND-LIKE 2; MAML2; 607538 NUDE-LIKE PROTEIN; 607539 CAMPTOSYNPOLYDACTYLY, COMPLEX; 607540 SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS
Changed Entries:: 105830 ANGELMAN SYNDROME; AS; 109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 126451 DOPAMINE RECEPTOR D3; DRD3; 127750 DEMENTIA, LEWY BODY; DLB; 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 131242 ENDOTHELIN 3; EDN3; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1; 142690 HIDRADENITIS SUPPURATIVA, FAMILIAL; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147670 INSULIN RECEPTOR; INSR; 153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1; 154790 PROTEASE INHIBITOR 5; PI5; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 157300 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164160 LEPTIN; LEP; 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; 164761 RET PROTOONCOGENE; RET; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 168820 PARAOXONASE 1; PON1; 176300 TRANSTHYRETIN; TTR; 176640 PRION PROTEIN; PRNP; 180385 LIM DOMAIN ONLY 2; LMO2; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2; 182452 SOMATOSTATIN RECEPTOR 2; SSTR2; 186100 SYNDACTYLY, TYPE III; 203300 HERMANSKY-PUDLAK SYNDROME; HPS; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC; 233420 GONADAL DYSGENESIS, XY TYPE; 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; 261600 PHENYLKETONURIA; 272120 SUDDEN INFANT DEATH SYNDROME; 277590 WEAVER SYNDROME; 300125 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2; 300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1; 301500 FABRY DISEASE; 311030 MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE; MCF2; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600185 BREAST CANCER 2, EARLY-ONSET; BRCA2; 600386 INHIBITOR OF DNA BINDING 2; ID2; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601515 FIBROBLAST GROWTH FACTOR 14; FGF14; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 601790 PANCREATIC POLYPEPTIDE RECEPTOR 1; PPYR1; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 601897 ZINC FINGER PROTEIN 148; ZNF148; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; 603478 UBIQUITIN-SPECIFIC PROTEASE 1; USP1; 603646 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15; COX15; 603825 HYPERMETHYLATED IN CANCER; HIC1; 604725 UBIQUITIN-SPECIFIC PROTEASE 2; USP2; 604731 UBIQUITIN-SPECIFIC PROTEASE 15; USP15; 605164 HISTONE DEACETYLASE 2; HDAC2; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607197 DEAFNESS, AUTOSOMAL RECESSIVE; 607326 SMITH-MCCORT DYSPLASIA; SMC; 607358 AUTOIMMUNE REGULATOR; AIRE; 607461 FLJ90130 GENE; 607463 RELA-ASSOCIATED INHIBITOR; 607498 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3; 607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4; 607520 ZYGOTE ARREST 1; 607521 HERMANSKY-PUDLAK SYNDROME GENE 5; HPS5; 607522 HERMANSKY-PUDLAK SYNDROME GENE 6; 607531 KRUPPEL-LIKE FACTOR 12; KLF12; 607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1; Clinical Synopsis for 277590 WEAVER SYNDROME

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OMIM Update List for February, 2003

February 28, 2003

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