OMIM Update List for November, 2003

PubMed

Nucleotide

Protein

Genome

OMIM Update List for November, 2003

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November 29, 2003
New Entries:: 300462 A-KINASE ANCHOR PROTEIN, 28-KD
Changed Entries:: 608294 NONMETASTATIC CELLS 6, PROTEIN EXPRESSED IN; NME6

November 26, 2003
New Entries:: 300460 PROTOCADHERIN 19; PCDH19; 608272 NEURAMINIDASE 1; NEU1; 608286 PROTOCADHERIN 10; PCDH10; 608287 PROTOCADHERIN 18; PCDH18; 608288 IGF2 mRNA-BINDING PROTEIN 1; 608289 IGF2 mRNA-BINDING PROTEIN 2; 608290 LELIS SYNDROME; 608291 TUBULIN-TYROSINE LIGASE; 608292 STOMATIN-LIKE PROTEIN 2; STOML2; 608293 RHOGAP INTERACTING WITH CIP4 HOMOLOGS 1; 608294 NONMETASTATIC CELLS 6, PROTEIN EXPRESSED IN; NME6
Changed Entries:: 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC; 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1; 178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 256550 NEURAMINIDASE DEFICIENCY; 300292 FORKHEAD BOX P3; FOXP3; 602198 CDK2-ASSOCIATED PROTEIN 1; CDK2AP1; 603057 PROTOCADHERIN 16; PCDH16; 603580 PROTOCADHERIN 8; PCDH8; 604617 NEURAMINIDASE 3; NEU3; 605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5; 605528 NEURAMINIDASE 2; NEU2; 608272 NEURAMINIDASE 1; NEU1; 608287 PROTOCADHERIN 18; PCDH18

November 25, 2003
New Entries:: 608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE; 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS; 608281 SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL; 608282 TRACE AMINE RECEPTOR 3; 608283 KINESIN FAMILY MEMBER 21A; KIF21A; 608284 INTRAMEMBRANE PROTEASE 5; 608285 NAD SYNTHETASE 1
Changed Entries:: 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN; TAPVR1; 107400 PROTEASE INHIBITOR 1; PI; 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3; 132900 AORTIC ANEURYSM, THORACIC; 163800 NODAL RHYTHM; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 191040 TROPONIN C, SLOW; TNNC1; 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1; 217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE; 268850 SAO PAULO MCA/MR SYNDROME; 300008 CHLORIDE CHANNEL 5; CLCN5; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5; 601653 EYES ABSENT 1; EYA1; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 606652 T-CELL IMMUNOGLOBULIN- AND MUCIN-DOMAIN-CONTAINING MOLECULE 3; 608136 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10; ARHGEF10; 608254 PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1-LIKE; PAXIP1L; 608259 IGF2 mRNA-BINDING PROTEIN 3; 608281 SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL; 608282 TRACE AMINE RECEPTOR 3; 608283 KINESIN FAMILY MEMBER 21A; KIF21A; Mini-MIM for 107400 PROTEASE INHIBITOR 1; PI

November 24, 2003
New Entries:: 608280 GROWTH ARREST-SPECIFIC 5; GAS5
Changed Entries:: 104614 SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID; 107400 PROTEASE INHIBITOR 1; PI; 133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION; 137181 GAMMA-GLUTAMYLTRANSFERASE 2; GGT2; 139320 GNAS COMPLEX LOCUS; GNAS; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 181500 SCHIZOPHRENIA; SCZD; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 182990 SPINAL INTRADURAL ARACHNOID CYSTS; 220100 CYSTINURIA; CSNU; 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA; 300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2; 600140 CREB-BINDING PROTEIN; CREBBP; 600807 ASTHMA; 600918 CYSTINURIA, TYPE III; CSNU3; 603554 OMENN SYNDROME; 605781 RAS HOMOLOG GENE FAMILY, MEMBER D; ARHD

November 21, 2003
New Entries:: 608275 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 15;; 608276 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 16;; 608277 B-CELL RAG-ASSOCIATED GENE; Clinical Synopsis for 608180 SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL; Clinical Synopsis for 608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL; Clinical Synopsis for 608236 SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT
Changed Entries:: 124910 DEAFNESS, LOW-FREQUENCY HEARING LOSS, MIXED CONDUCTIVE-SENSORINEURAL; 136620 FRAGILE SITE 10q25; 146680 INSULIN-DEGRADING ENZYME; IDE; 180930 SALIVARY PROTEIN I; SAL-I; 190195 TRANSGLUTAMINASE 1; TGM1; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 214500 CHEDIAK-HIGASHI SYNDROME; CHS; 300500 ALBINISM, OCULAR, TYPE I; OA1; 600185 BREAST CANCER 2 GENE; BRCA2; 602689 FASCIN, SEA URCHIN, HOMOLOG OF, 1; FSCN1; 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2; 604952 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC; 604953 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC; 605526 ALZHEIMER DISEASE 6; 606677 LECTIN, C-TYPE, SUPERFAMILY MEMBER 11; CLECSF11; 607525 ZINC RIBBON DOMAIN-CONTAINING PROTEIN 1; ZNRD1; 608177 EXOSTOSIN 1; EXT1; Clinical Synopsis for 132600 PILOMATRIXOMA; Clinical Synopsis for 153000 LYMPHEDEMA AND PTOSIS; Clinical Synopsis for 153100 LYMPHEDEMA, HEREDITARY, I; Clinical Synopsis for 153200 LYMPHEDEMA, HEREDITARY, II; Clinical Synopsis for 153300 YELLOW NAIL SYNDROME; Clinical Synopsis for 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; Clinical Synopsis for 305600 FOCAL DERMAL HYPOPLASIA; DHOF; Clinical Synopsis for 608180 SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL

November 20, 2003
New Entries:: 608273 INTERLEUKIN 30; IL30; 608274 PROTEIN ARGININE N-METHYLTRANSFERASE 6
Changed Entries:: 123580 CRYSTALLIN, ALPHA-A; CRYAA; 156000 MENIERE DISEASE; 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1; 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; 189933 TRANSFER RNA THREONINE 2; TRT2; 252500 MUCOLIPIDOSIS II; 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; 300402 LEUCINE ZIPPER, DOWNREGULATED IN CANCER 1; LDOC1; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC; 601369 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9; 601457 SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE; 603196 COCHLIN; COCH; 605350 T-CELL CYTOKINE RECEPTOR; 605816 EPSTEIN-BARR VIRUS-INDUCED GENE 3; EBI3; 606686 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1; EIF2B1; 606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4; 606746 CHROMOSOME 19 OPEN READING FRAME 10; C19ORF10; 607462 DRPLA GENE; DRPLA; 608209 DIPEPTIDYL PEPTIDASE X; DPP10

November 19, 2003
New Entries:: 608269 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER),; 608270 THREONINE ASPARTASE 1; 608271 MICROTUBULE-ACTIN CROSS-LINKING FACTOR 1; MACF1
Changed Entries:: 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 130130 ELASTASE 2; ELA2; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 152800 LYMPHANGIECTASIA, INTESTINAL; 153100 LYMPHEDEMA, HEREDITARY, I; 153200 LYMPHEDEMA, HEREDITARY, II; 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 163950 NOONAN SYNDROME 1; NS1; 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 180850 MOVED TO 180849; 191700 URIC ACID UROLITHIASIS; 248800 MARINESCO-SJOGREN SYNDROME; MSS; 600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA; 600140 CREB-BINDING PROTEIN; CREBBP; 601411 SARCOGLYCAN, DELTA; SGCD; 602402 FORKHEAD BOX C2; FOXC2; 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 604676 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, GENE P5-1; 604886 COX4, NEIGHBOR OF; NOC4; 605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3; 606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1; 606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2; 606847 TCOF1 GENE; Clinical Synopsis for 129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2; Clinical Synopsis for 168500 PARIETAL FORAMINA; PFM; Clinical Synopsis for 305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

November 18, 2003
New Entries:: 300459 TENOMODULIN; 608266 PARATHYROID CARCINOMA; 608267 RAS-RELATED GTP-BINDING PROTEIN C; RRAGC; 608268 RAS-RELATED GTP-BINDING PROTEIN D; RRAGD
Changed Entries:: 105800 ANEURYSM, INTRACRANIAL BERRY; 114290 CAMPOMELIC DYSPLASIA; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 224300 DYSOSTEOSCLEROSIS; 252800 ALPHA-L-IDURONIDASE; IDUA; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 313450 SURFACE ANTIGEN, X-LINKED; SAX; 313460 SURFACE ANTIGEN, X-LINKED, SECOND; SAX2; 313470 CD99 ANTIGEN; CD99; 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9; 602225 CONE-ROD HOMEO BOX-CONTAINING GENE; CRX; 602849 MUENKE SYNDROME; 603681 OTOFERLIN; OTOF; 603708 MOLYBDENUM COFACTOR SYNTHESIS 2; MOCS2; 603917 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 9; EIF3S9; 604148 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER),; 604159 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER; 606157 PANTOTHENATE KINASE 2; PANK2; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607393 HYPERPARATHYROIDISM 2 GENE; HRPT2; 608232 LEUKEMIA, CHRONIC MYELOID; CML; 608266 PARATHYROID CARCINOMA; Clinical Synopsis for 313450 SURFACE ANTIGEN, X-LINKED; SAX; Clinical Synopsis for 313460 SURFACE ANTIGEN, X-LINKED, SECOND; SAX2; Clinical Synopsis for 313470 CD99 ANTIGEN; CD99

November 17, 2003
New Entries:: 608244 OTOSCLEROSIS 3; OTSC3; 608254 PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1-LIKE; PAXIP1L; 608257 MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT; 608259 IGF-II mRNA-BINDING PROTEIN 3; 608262 DISRUPTED IN RENAL CARCINOMA 3; DIRC3; 608263 HEAT-SHOCK 27-KD PROTEIN-ASSOCIATED PROTEIN 1; HSPBAP1
Changed Entries:: 109135 AXL RECEPTOR TYROSINE KINASE; AXL; 109195 BACTERICIDAL PERMEABILITY-INCREASING PROTEIN; BPI; 113970 BURKITT LYMPHOMA; BL; 133090 ERYTHROCYTE SURFACE PROTEIN BAND 7.2; EPB72; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 139320 GNAS COMPLEX LOCUS; GNAS; 144700 RENAL CELL CARCINOMA 1; RCC1; 147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC; 158250 MOSAICISM, CHROMOSOMAL; 166800 OTOSCLEROSIS; OTSC1; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 176270 PRADER-WILLI SYNDROME; PWS; 176640 PRION PROTEIN; PRNP; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 180860 SILVER-RUSSELL SYNDROME; SRS; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 191350 DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1; 300006 CENTRIN, EF-HAND PROTEIN, 2; CETN2; 475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY; 600080 MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC; 600185 BREAST CANCER 2 GENE; BRCA2; 600807 ASTHMA; 600861 REGULATOR OF G PROTEIN SIGNALING 2; RGS2; 601021 NUCLEOPORIN, 98-KD; NUP98; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601554 T-COMPLEX-ASSOCIATED-TESTES-EXPRESSED 1-LIKE 1; TCTEL1; 601565 INTERFERON CONSENSUS SEQUENCE-BINDING PROTEIN 1; ICSBP1; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; PRKWNK4; 601999 LIM HOMEO BOX GENE 1; LHX1; 602469 FOLATE RECEPTOR 3; FOLR3; 602773 DISRUPTED IN RENAL CARCINOMA 2; DIRC2; 602918 PHENYLALANINE-tRNA SYNTHETASE-LIKE; FARSL; 602919 DOCKING PROTEIN 1; DOK1; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603128 SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 1; SIM1; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; 603244 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 1; HS3ST1; 603759 LIM HOMEO BOX GENE 2; LHX2; 604686 A-KINASE ANCHOR PROTEIN 13; AKAP13; 604997 DOCKING PROTEIN 2; DOK2; 605118 SUPPRESSOR OF CYTOKINE SIGNALING 4; SOCS4; 605141 PRE-B-LYMPHOCYTE GENE 1; VPREB1; 605727 OTOSCLEROSIS 2; OTSC2; 606109 IMMUNOGENIC TUMOR ANTIGEN CML66; 606423 DISRUPTED IN RENAL CARCINOMA 1; DIRC1; 606764 GASTROINTESTINAL STROMAL TUMOR; GIST; 608259 IGF-II mRNA-BINDING PROTEIN 3

November 14, 2003
New Entries:: 608224 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 41; DFNA41; 608260 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 8; KCNH8; 608261 SENTRIN-SPECIFIC PROTEASE 2; 608264 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40; 608265 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39
Changed Entries:: 100820 ACHOO SYNDROME; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A; 119530 OROFACIAL CLEFT 1; OFC1; 120260 COLLAGEN, TYPE IX, ALPHA-2; COL9A2; 123101 MUSCLE SEGMENT HOMEO BOX, DROSOPHILA, HOMOLOG OF, 2; MSX2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1; 179600 RAYNAUD DISEASE; 180420 RIBONUCLEIC ACID, RIBOSOMAL, 5S; 186880 T-CELL ANTIGEN RECEPTOR, ALPHA SUBUNIT; TCRA; 192070 UV DAMAGE, EXCISION REPAIR OF, UV-24; 214700 CHLORIDE DIARRHEA, FAMILIAL; CLD; 229700 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3; 253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2; 264700 PSEUDOVITAMIN D DEFICIENCY RICKETS; 306955 HETEROTAXY, VISCERAL, X-LINKED; 600943 COLLAGEN-BINDING PROTEIN 2; CBP2; 601168 DIHYDROPYRIMIDINASE-LIKE 3; DPYSL3; 601450 DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS; 601556 ATAXIN 1; ATX1; 601873 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE; GALGT; 602231 SMT3, YEAST, HOMOLOG 1; SMT3H1; 602837 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 1; DNAJA1; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 603851 PAIRED-LIKE HOMEO BOX 2B; PHOX2B; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 605376 HETEROTAXY, VISCERAL, AUTOSOMAL; 605444 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN G-T; 605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1; 606092 DOPAMINE RECEPTOR-INTERACTING PROTEIN, 78-KD; 606111 MELANIN-CONCENTRATING HORMONE RECEPTOR 2; 606624 NEUROGENIN 2; NEUROG2; 606873 HEXOSAMINIDASE B; HEXB; 607645 D4S234E GENE; D4S234E; 608224 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 41; DFNA41; 608264 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40; 608265 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39; Clinical Synopsis for 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C

November 13, 2003
New Entries:: 608232 LEUKEMIA, CHRONIC MYELOID; CML; 608236 SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT; 608252 ACTIN FILAMENT-ASSOCIATED PROTEIN; 608253 TESTIS-SPECIFIC KINASE SUBSTRATE; 608255 TRAF3-INTERACTING JNK-ACTIVATING MODULATOR; 608256 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, BETA SUBUNIT; SCN4B; 608258 DIPEPTIDYL PEPTIDASE IX; DPP9
Changed Entries:: 102981 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1; 113705 BREAST CANCER 1 GENE; BRCA1; 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR; 151410 BREAKPOINT CLUSTER REGION; BCR; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 161950 IgA NEPHROPATHY; 163950 NOONAN SYNDROME 1; NS1; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 182230 SEPTOOPTIC DYSPLASIA; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 235200 HEMOCHROMATOSIS; HFE; 276903 MYOSIN VIIA; MYO7A; 312750 RETT SYNDROME; RTT; 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601264 MOVED TO 601271; 601271 GUANYLATE CYCLASE ACTIVATOR 2B; GUCA2B; 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; 601802 HOMEO BOX GENE EXPRESSED IN ES CELLS; HESX1; 601896 TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3; 602751 BTB AND CNC HOMOLOGY 1; BACH1; 603205 MICRORCHIDIA, MOUSE, HOMOLOG OF; 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC; 605608 CLAUDIN 14; CLDN14; 605805 DERMATITIS, ATOPIC, 4; ATOD4; 605844 DERMATITIS, ATOPIC, 5; ATOD5; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 606652 T-CELL IMMUNOGLOBULIN- AND MUCIN-DOMAIN-CONTAINING MOLECULE 3; 606819 DIPEPTIDYL PEPTIDASE VIII; DPP8; 608136 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10; ARHGEF10; 608206 KIAA1985; Clinical Synopsis for 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS

November 12, 2003
New Entries:: 608251 PHOBIA, SPECIFIC
Changed Entries:: 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 114480 BREAST CANCER; 137570 SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 1; SLC20A1; 139080 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GRAVES DISEASE AUTOANTIGEN),; 148059 KERATIN 7; KRT7; 158378 SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2; 167870 PANIC DISORDER; 182308 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 190315 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, CITRATE TRANSPORTER),; 193001 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE TRANSPORTER), MEMBER; 193002 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE TRANSPORTER), MEMBER; 203300 HERMANSKY-PUDLAK SYNDROME; HPS; 239100 HYPEROSTOSIS CORTICALIS GENERALISATA; 242300 ICHTHYOSIS, LAMELLAR, 1; LI1; 300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4; 300104 GDP DISSOCIATION INHIBITOR 1; GDI1; 300242 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, BRAIN), MEMBER 14;; 314375 SOLUTE CARRIER FAMILY 35 (UDP-GALACTOSE TRANSPORTER), MEMBER 2; SLC35A2; 600336 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE TRANSPORTER), MEMBER; 600424 SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 1; SLC19A1; 600767 GDP-DISSOCIATION INHIBITOR 2; GDI2; 601460 SOLUTE CARRIER FAMILY 21 (PROSTAGLANDIN TRANSPORTER), MEMBER 2; SLC21A2; 601611 SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 2; SLC14A2; 602339 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 2; SLC15A2; 602607 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1; SLC22A1; 602608 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 2; SLC22A2; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 602655 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN;; 602883 SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 3; SLC21A3; 603080 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, BETAINE/GABA),; 603370 UDP-GLUCOSE DEHYDROGENASE; UGDH; 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5; 603617 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 603667 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12;; 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13; 603861 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER),; 603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2; 604024 SOLUTE CARRIER FAMILY 5 (SODIUM-DEPENDENT VITAMIN TRANSPORTER), MEMBER; 604165 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, OXOGLUTARATE CARRIER),; 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4; 604216 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 604254 DYSLEXIA, SPECIFIC, 3; DYX3; 604309 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER),; 604322 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 604842 SOLUTE CARRIER FAMILY 22 (EXTRANEURONAL MONOAMINE TRANSPORTER), MEMBER; 604843 SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 6; SLC21A6; 604878 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 6;; 604879 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER; 604988 SOLUTE CARRIER FAMILY 21, MEMBER 9 (ORGANIC ANION TRANSPORTER); SLC21A9; 604995 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 7; SLC22A7; 605024 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER; 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM; PPM1D; 605208 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 605245 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 605495 SOLUTE CARRIER FAMILY 21, MEMBER 8 (ORGANIC ANION TRANSPORTER); SLC21A8; 605556 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE TRANSPORTER-LIKE), MEMBER; 605632 SOLUTE CARRIER FAMILY 35 (UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER; 605634 SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1;; 606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 606145 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 606152 SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 3; SLC19A3; 606207 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER),; 606208 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER),; 606411 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER),; 606652 T-CELL IMMUNOGLOBULIN- AND MUCIN-DOMAIN-CONTAINING MOLECULE 3; 606726 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER; 606757 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER; 606813 SOLUTE CARRIER FAMILY 2i (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607190 REGULATOR OF G PROTEIN SIGNALING 13; RGS13; 607261 ELLIS-VAN CREVELD SYNDROME GENE 2; EVC2; 607563 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 608058 ISLET-SPECIFIC GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN; Clinical Synopsis for 258865 ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES; Clinical Synopsis for 277170 VARADI-PAPP SYNDROME

November 11, 2003
New Entries:: 608242 CYCLIN E-BINDING PROTEIN 1; 608243 NECDIN-LIKE GENE 2; NDNL2; 608245 KERATIN 6, INNER ROOT SHEATH, 1; 608246 KERATIN 6, INNER ROOT SHEATH, 2; 608247 KERATIN 6, INNER ROOT SHEATH, 3; 608248 KERATIN 6, INNER ROOT SHEATH, 4; 608249 CHROMOSOME 14 OPEN READING FRAME 18; C14ORF18; 608250 SDS3, YEAST, HOMOLOG OF
Changed Entries:: 110450 BLOOD GROUP--COLTON; CO; 111400 BLOOD GROUP, P SYSTEM; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 120260 COLLAGEN, TYPE IX, ALPHA-2; COL9A2; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF; 135630 INTEGRIN, BETA-1; ITGB1; 150330 LAMIN A/C; LMNA; 156610 MICHELIN TIRE BABY SYNDROME; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 163890 SYNUCLEIN, ALPHA; SNCA; 168600 PARKINSON DISEASE; PD; 173610 SELECTIN P; SELP; 176960 PROTEIN KINASE C, ALPHA; PRKCA; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 190685 DOWN SYNDROME; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 224700 EBSTEIN ANOMALY; 253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B; 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE, 1; 301500 FABRY DISEASE; 600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2; 600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6; 600639 CASPASE 2, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP2; 602265 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 9;; 602574 TECTORIN, ALPHA; TECTA; 602768 DELTA-LIKE 3; DLL3; 602859 PEROXISOME BIOGENESIS FACTOR 10; PEX10; 603094 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 3;; 603360 PEROXISOME BIOGENESIS FACTOR 16; PEX16; 603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21; 605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4; 607270 AUTS2 GENE; AUTS2; 608046 HRD1, S. CEREVISIAE, HOMOLOG OF; 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; 608156 NABLUS MASK-LIKE FACIAL SYNDROME

November 10, 2003
New Entries:: 608235 GALACTOSE 3-O-SULFOTRANSFERASE 4; 608237 GLYCOPROTEIN BETA-GALACTOSE 3-PRIME-SULFOTRANSFERASE; 608238 SIGNAL PEPTIDE PEPTIDASE-LIKE 2A; 608239 SIGNAL PEPTIDE PEPTIDASE-LIKE 2B; 608240 SIGNAL PEPTIDE PEPTIDASE-LIKE 3; 608241 SMAD NUCLEAR INTERACTING PROTEIN 1
Changed Entries:: 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; 113700 BREASTS AND NIPPLES, ABSENCE OF; 116952 CELL DIVISION CYCLE 42; CDC42; 117550 SOTOS SYNDROME; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 128200 PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 137800 GLIOMA OF BRAIN, FAMILIAL; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G; 147557 INTEGRIN, BETA-4; ITGB4; 147558 INTEGRIN, BETA-6; ITGB6; 147620 INTERLEUKIN 6; IL6; 151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL; 152200 APOLIPOPROTEIN(a); LPA; 160000 MYOGLOBIN; MB; 160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 164160 LEPTIN; LEP; 166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4; 166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY; 166700 BUSCHKE-OLLENDORFF SYNDROME; 176640 PRION PROTEIN; PRNP; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 180920 SALIVARY GLANDS, ABSENCE OF; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 186570 TARSAL-CARPAL COALITION SYNDROME; TCC; 188360 THYMOCYTE ANTIGEN CD1B; CD1B; 188570 THYROID HORMONE RESISTANCE; 188580 THYROTOXIC PERIODIC PARALYSIS; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 190320 TRICHODENTOOSSEOUS SYNDROME; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 193210 INTEGRIN, ALPHA-V; ITGAV; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 212500 CATARACT, CONGENITAL OR JUVENILE; 238300 GLYCINE DECARBOXYLASE; GLDC; 241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE; 242650 PRIMARY CILIARY DYSKINESIA; PCD; 245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 255700 MYOTONIA, GENERALIZED; 256600 NEUROAXONAL DYSTROPHY, INFANTILE; 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; 257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION; 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS; 272650 TATSUMI FACTOR DEFICIENCY; 276902 USHER SYNDROME, TYPE III; USH3; 300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2; 300401 PROTEOLIPID PROTEIN 1; PLP1; 301500 FABRY DISEASE; 304400 DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION; 305600 FOCAL DERMAL HYPOPLASIA; DHOF; 308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600528 CARNITINE PALMITOYLTRANSFERASE I, LIVER; CPT1A; 600620 FK506-BINDING PROTEIN 1B; FKBP1B; 600805 LAMININ, ALPHA-3; LAMA3; 600900 SARCOGLYCAN, BETA; SGCB; 601007 LEPTIN RECEPTOR; LEPR; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601916 ARGININE-RICH, MUTATED IN EARLY STAGE TUMORS; ARMET; 602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F; 602135 DYNEIN, AXONEMAL, LIGHT INTERMEDIATE POLYPEPTIDE 1; DNALI1; 602229 SRY-BOX 10; SOX10; 602553 ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION; 602617 FORKHEAD BOX E1; FOXE1; 602667 NBS1 GENE; NBS1; 603107 TRANSCRIPTION FACTOR 20; TCF20; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3; 604387 NEPHRONOPHTHISIS 3; NPHP3; 604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2; 604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC; CPVT; 604889 NEUROBEACHIN; NBEA; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605283 MAGE-LIKE 2; MAGEL2; 605725 PERIAXIN; 606042 MYONEURIN; MYNN; 606397 USH3A GENE; USH3A; 606553 SOLUTE CARRIER FAMILY 9, ISOFORM 3, REGULATORY FACTOR 2; SLC9A3R2; 606596 FUKUTIN-RELATED PROTEIN; 606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A; 607106 MINOR HISTOCOMPATIBILITY 13; HM13; 607273 FOLLICULIN; 608180 SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL; 608234 GALACTOSE 3-O-SULFOTRANSFERASE 2; 608235 GALACTOSE 3-O-SULFOTRANSFERASE 4

November 7, 2003
New Entries:: 300458 MENTAL RETARDATION, X-LINKED 16; MRX16; 608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL; 608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2; 608234 GALACTOSE 3-O-SULFOTRANSFERASE 2
Changed Entries:: 109684 17-@BETA-HYDROXYSTEROID DEHYDROGENASE I; HSD17B1; 109685 17-@BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2; 113705 BREAST CANCER 1 GENE; BRCA1; 120820 COMPLEMENT COMPONENT 4B; C4B; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 120940 COMPLEMENT COMPONENT 9; C9; 133170 ERYTHROPOIETIN; EPO; 134370 H FACTOR 1; HF1; 136538 FORMYL PEPTIDE RECEPTOR-LIKE 1; FPRL1; 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 140100 HAPTOGLOBIN; HP; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142409 HEPATOCYTE GROWTH FACTOR; HGF; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 145500 HYPERTENSION, ESSENTIAL; 147558 INTEGRIN, BETA-6; ITGB6; 147670 INSULIN RECEPTOR; INSR; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 155100 MAY-HEGGLIN ANOMALY; MHA; 158105 SMALL INDUCIBLE CYTOKINE A2; SCYA2; 159440 MYELIN PROTEIN ZERO; MPZ; 162151 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 2; PCSK2; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 164860 MET PROTOONCOGENE; MET; 167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1; 177900 PSORIASIS SUSCEPTIBILITY; 188360 THYMOCYTE ANTIGEN CD1B; CD1B; 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2; 191092 TUBEROUS SCLEROSIS 2 GENE; TSC2; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 203300 HERMANSKY-PUDLAK SYNDROME; HPS; 212750 CELIAC DISEASE; CD; 219700 CYSTIC FIBROSIS; CF; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2; 235730 MOWAT-WILSON SYNDROME; 242300 ICHTHYOSIS, LAMELLAR, 1; LI1; 251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA; 264300 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300046 MENTAL RETARDATION, X-LINKED 23; MRX23; 300104 GDP DISSOCIATION INHIBITOR 1; GDI1; 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC; 300268 ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1-INHIBITOR CONCENTRATION; 300377 DYSTROPHIN; DMD; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 309541 MENTAL RETARDATION, X-LINKED 3; MRX3; 600374 BBS4 GENE; BBS4; 600537 RECQ PROTEIN-LIKE; RECQL; 601141 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER; 601174 IMIDAZOLINE RECEPTOR; 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2; 601293 RAS HOMOLOG ENRICHED IN BRAIN 2; RHEB2; 601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7; 601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1; 601753 PEPTIDYL-PROLYL ISOMERASE D; PPID; 601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4; 602151 DISHEVELLED 2; DVL2; 602300 CEREBROSIDE SULFOTRANSFERASE; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602544 PARKIN; PARK2; 603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1; 603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB; 603886 ARTEMIN; ARTN; 603968 POLYMERASE, DNA, ETA; POLH; 604263 PRION GENE COMPLEX, DOWNSTREAM; PRND; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13; 604443 FATTY ACID CoA LIGASE, LONG-CHAIN 6; FACL6; 604566 ALG6, S. CEREVISIAE, HOMOLOG OF; 604837 G PROTEIN-COUPLED RECEPTOR 44; GPR44; 604982 HPS1 GENE; HPS1; 605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2; 605570 RAS FAMILY, MEMBER RAB11A; RAB11A; 606596 FUKUTIN-RELATED PROTEIN; 606682 HPS4 GENE; HPS4; 606981 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-2; GNG2; 607037 ENOYL-CoA HYDRATASE/3-HYDROXYACYL CoA DEHYDROGENASE; EHHADH; 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;; 607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5; 607522 HPS6 GENE; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; 608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2

November 6, 2003
New Entries:: 608180 SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL; 608222 ADENYLOSUCCINATE LYASE; ADSL; 608230 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1I SUBUNIT; CACNA1I; 608231 CHROMOSOME 12 OPEN READING FRAME 2; C12ORF2
Changed Entries:: 103050 ADENYLOSUCCINASE DEFICIENCY; 109760 5-@HYDROXYTRYPTAMINE RECEPTOR 1A; HTR1A; 111100 FUCOSYLTRANSFERASE 3; FUT3; 111130 BLOOD GROUP--LKE; LKE; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 118946 CILIARY NEUROTROPHIC FACTOR RECEPTOR; CNTFR; 120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1; 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1; 123101 MUSCLE SEGMENT HOMEO BOX, DROSOPHILA, HOMOLOG OF, 2; MSX2; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 135820 FIBULIN 1; FBLN1; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB; 136535 FORMIN; FMN; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL; 138320 GLUTATHIONE PEROXIDASE; GPX1; 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 146110 HYPOGONADOTROPIC HYPOGONADISM; 147720 INTERLEUKIN 1-BETA; IL1B; 147760 INTERLEUKIN 1-ALPHA; IL1A; 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME; 152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1; 155255 MEDULLOBLASTOMA; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 164160 LEPTIN; LEP; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1; 168600 PARKINSON DISEASE; PD; 180200 RETINOBLASTOMA; RB1; 181500 SCHIZOPHRENIA; SCZD; 182100 FUCOSYLTRANSFERASE 2; FUT2; 188360 THYMOCYTE ANTIGEN CD1B; CD1B; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 203300 HERMANSKY-PUDLAK SYNDROME; HPS; 205400 TANGIER DISEASE; TGD; 208800 PYRUVATE DECARBOXYLASE DEFICIENCY; 227200 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC; 235200 HEMOCHROMATOSIS; HFE; 236000 HODGKIN LYMPHOMA; 239000 PAGET DISEASE, JUVENILE; 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME; 248200 STARGARDT DISEASE 1; STGD1; 248800 MARINESCO-SJOGREN SYNDROME; MSS; 253260 BIOTINIDASE; BTD; 256000 LEIGH SYNDROME; LS; 266900 SENIOR-LOKEN SYNDROME; 300096 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2; TM4SF2; 300210 MENTAL RETARDATION, X-LINKED 58; MRX58; 300237 TRANSCRIPTION ELONGATION FACTOR A-LIKE 1; TCEAL1; 300500 ALBINISM, OCULAR, TYPE I; OA1; 305371 GATA-BINDING PROTEIN 1; GATA1; 306250 COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600140 CREB-BINDING PROTEIN; CREBBP; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1; 600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601204 PROSTAGLANDIN F2 RECEPTOR NEGATIVE REGULATOR; PTGFRN; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601464 LYMPHOID NUCLEAR PROTEIN RELATED TO AF4; LAF4; 601958 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-3 SUBUNIT; CACNB3; 601980 LIPASE, GASTRIC; LIPF; 602229 SRY-BOX 10; SOX10; 602286 STEROL C5-DESATURASE-LIKE; SC5DL; 602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 603000 IMMATURE COLON CARCINOMA TRANSCRIPT 1; ICT1; 603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1; 604031 STEAROYL-CoA DESATURASE; SCD; 604065 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1G SUBUNIT; CACNA1G; 604155 LanC-LIKE 1; LANCL1; 604161 G PROTEIN-COUPLED RECEPTOR 54; GPR54; 605130 GROWTH DEFICIENCY AND MENTAL RETARDATION WITH FACIAL DYSMORPHISM; 605203 MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 606515 RNA, 7SK SMALL NUCLEAR; RN7SK; 606989 MYELOPEROXIDASE; MPO; 607567 OLFACTOMEDIN 3; OLFM3; 607619 NONERYTHROID PROTEIN 4.1, OVARY TYPE; 607872 MONOSOMY 1p36 SYNDROME; 607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H; 607922 ALPHA-1,4-GALACTOSYLTRANSFERASE; A4GALT; 608071 SHFM3 GENE; SHFM3; 608231 CHROMOSOME 12 OPEN READING FRAME 2; C12ORF2

November 5, 2003
New Entries:: 608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE, WITH DISC HERNIATION; 608228 NANOS, DROSOPHILA, HOMOLOG OF, 2; 608229 NANOS, DROSOPHILA, HOMOLOG OF, 3
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 110750 BLOOD GROUP--GERBICH; Ge; 116960 MORTALITY FACTOR 4; MORF4; 120270 COLLAGEN, TYPE IX, ALPHA-3; COL9A3; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; 132700 CYLINDROMATOSIS, FAMILIAL; CYLD; 133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 135900 FIFTH DIGIT SYNDROME; 138250 1-@PYRROLINE-5-CARBOXYLATE SYNTHETASE; PYCS; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO; 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 162400 NEUROPATHY, HEREDITARY SENSORY, TYPE I; HSN1; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 174100 POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES; 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1; 205900 DIAMOND-BLACKFAN ANEMIA; DBA; 239000 PAGET DISEASE, JUVENILE; 245000 PAPILLON-LEFEVRE SYNDROME; PALS; 245010 HAIM-MUNK SYNDROME; HMS; 249100 FAMILIAL MEDITERRANEAN FEVER; FMF; 276710 TYROSINEMIA, TYPE III; 300065 FSH PRIMARY RESPONSE, RAT, HOMOLOG OF, 1; FSHPRH1; 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS; 300085 CONE DYSTROPHY, X-LINKED, 2; COD2; 300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F; 300600 ALBINISM, OCULAR, TYPE II; OA2; 303800 COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD; 304020 CONE DYSTROPHY, X-LINKED, 1; COD1; 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED; 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; 313700 ANDROGEN RECEPTOR; AR; 314850 KELL BLOOD GROUP PRECURSOR; XK; 600209 EXOSTOSES, MULTIPLE, TYPE III; EXT3; 600887 MutS, E. COLI, HOMOLOG OF, 3; MSH3; 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM; 602093 CONE DYSTROPHY 3; COD3; 602365 CATHEPSIN C; CTSC; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603616 RABAPTIN 5; RABPT5; 603680 SPINOCEREBELLAR ATAXIA 8; SCA8; 603783 COGNITIVE ABILITY, GENERAL; 604532 POLYCYSTIN 2-LIKE 1; PKD2L1; 604581 ATPase FAMILY GENE 3-LIKE 2; AFG3L2; 605147 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 1; LECT1; 605264 SORBIN AND SH3 DOMAIN CONTAINING 1; SORBS1; 605337 FACTOR H-RELATED GENE 4; FHR4; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 606397 USH3A GENE; USH3A; 606597 PAIRED BOX GENE 3; PAX3; 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM; 606765 THYROID PEROXIDASE; TPO; 606933 TYROSINASE; TYR; 607991 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 3; SLC8A3; 608115 OVARIAN HYPERSTIMULATION SYNDROME; 608194 CONE-ROD DYSTROPHY 9; CORD9; 608225 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE

November 4, 2003
New Entries:: 608225 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 608226 NANOS, DROSOPHILA, HOMOLOG OF, 1
Changed Entries:: 152690 THYROID AUTOANTIGEN, 70-KD; G22P1; 188455 THYROGLOSSAL DUCT CYST, FAMILIAL; 189906 TRANSCRIPTION FACTOR Sp1; SP1; 314550 VESICOURETERAL REFLUX, X-LINKED; VURX; 600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST; 600748 TESTIS-ENHANCED GENE TRANSCRIPT; TEGT; 601221 TISSUE-SPECIFIC EXTINGUISHER 3; 601234 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE; NACA; 601897 ZINC FINGER PROTEIN 148; ZNF148; 602542 BASIC TRANSCRIPTION FACTOR 3; BTF3; 602544 PARKIN; PARK2; 605281 DEAD/H BOX 4; DDX4; 606085 TESTIS-DERIVED TRANSCRIPT; TES; 606961 WW DOMAIN-BINDING PROTEIN 1; WBP1; 606962 WW DOMAIN-BINDING PROTEIN 2; WBP2; 607029 VESICLE-ASSOCIATED MEMBRANE PROTEIN 5; VAMP5; 607205 PUMILIO, DROSOPHILA, HOMOLOG OF, 2; PUM2

November 3, 2003
New Entries:: 608223 ASPIRIN RESISTANCE
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 114610 CANNABINOID RECEPTOR 1; CNR1; 116806 CATENIN, BETA-1; CTNNB1; 133780 EXUDATIVE VITREORETINOPATHY, FAMILIAL; EVR; 134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 165640 ORNITHINE DECARBOXYLASE 1; ODC1; 173470 INTEGRIN, BETA-3; ITGB3; 191321 UBIQUITIN A-52-RESIDUE RIBOSOMAL PROTEIN FUSION PRODUCT; UBA52; 193060 VIMENTIN; VIM; 217100 CONSTRICTING BANDS, CONGENITAL; 248610 MAPLE SYRUP URINE DISEASE, TYPE II; 252800 ALPHA-L-IDURONIDASE; IDUA; 300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER; 600514 REELIN; RELN; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 601276 ZINC FINGER PROTEIN 177; ZNF177; 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;; 601789 PEROXISOME BIOGENESIS FACTOR 13; PEX13; 601796 TAF4 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 601897 ZINC FINGER PROTEIN 148; ZNF148; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602443 X-PROLYL AMINOPEPTIDASE 1; XPNPEP1; 602483 EARS, PROMINENT AND CONSTRICTED; 603164 PEROXISOME BIOGENESIS FACTOR 3; PEX3; 603812 WD REPEAT-CONTAINING PROTEIN 22; WDR22; 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM; PPM1D; 605300 ADAPTOR PROTEIN CONTAINING PH AND SH2 DOMAINS; 606417 WD REPEAT-CONTAINING PROTEIN 11; WDR11; 606749 TUBULOINTERSTITIAL NEPHRITIS ANTIGEN; TINAG; Clinical Synopsis for 194050 WILLIAMS-BEUREN SYNDROME; WBS

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