OMIM Update List for March, 2002

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Nucleotide

Protein

Genome

OMIM Update List for March, 2002

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March 29, 2002
New Entries:: 300385 NUCLEOSOMAL BINDING PROTEIN 1; NSBP1; 606785 CRIGLER-NAJJAR SYNDROME, TYPE II; 606797 SUPPRESSION OF TUMORIGENICITY 14; ST14; 606808 MYOSIN IIIA; MYO3A; 606809 GOLGI PHOSPHOPROTEIN 1; GOLPH1; Clinical Synopsis for 606785 CRIGLER-NAJJAR SYNDROME, TYPE II
Changed Entries:: 110800 BLOOD GROUP--I SYSTEM; Ii; 116947 CELL DIVISION CYCLE 25A; CDC25A; 116949 CELL DIVISION CYCLE 25B; CDC25B; 116953 CYCLIN-DEPENDENT KINASE 2; CDK2; 117550 SOTOS SYNDROME; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 143500 GILBERT SYNDROME; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD; 164160 LEPTIN; LEP; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 208900 ATAXIA-TELANGIECTASIA; AT; 212500 CATARACT, CONGENITAL OR JUVENILE; 218800 CRIGLER-NAJJAR SYNDROME; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 600429 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 2, I-BRANCHING ENZYME; GCNT2; 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A; 602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1; 603465 CELL DIVISION CYCLE 45, S. CEREVISIAE, HOMOLOG-LIKE; CDC45L; 603864 COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE; CCS; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 605123 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 1; SPINT1; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 606785 CRIGLER-NAJJAR SYNDROME, TYPE II; 606796 SUPPRESSION OF TUMORIGENICITY 13; ST13; 606797 SUPPRESSION OF TUMORIGENICITY 14; ST14; Clinical Synopsis for 143500 GILBERT SYNDROME; Clinical Synopsis for 218800 CRIGLER-NAJJAR SYNDROME

March 28, 2002
New Entries:: 606796 SUPPRESSION OF TUMORIGENICITY 13; ST13; 606802 SPIB TRANSCRIPTION FACTOR; SPIB; 606803 THIOESTERASE, ADIPOSE-ASSOCIATED; THEA; 606804 GOLGI PHOSPHOPROTEIN 2; GOLPH2; 606805 GOLGI PHOSPHOPROTEIN 4; GOLPH4; 606806 FORMIMINOTRANSFERASE CYCLODEAMINASE; FTCD; 606807 SEF, ZEBRAFISH, HOMOLOG OF
Changed Entries:: 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4; 108600 ATAXIA, SPASTIC, AUTOSOMAL DOMINANT; SAS1; 139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3; 161200 NAIL-PATELLA SYNDROME; NPS; 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1; 179730 RELAXIN 1; RLN1; 179740 RELAXIN 2; RLN2; 182396 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY),; 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM; 270500 SPASTIC ATAXIA; 300150 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER A5; SLC25A5; 300151 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER A6; SLC25A6; 600201 AGOUTI SIGNALING PROTEIN; ASIP; 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 600370 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 3; SLC25A3; 600544 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 1; SLC15A1; 600637 SOLUTE CARRIER FAMILY 1 (HIGH AFFINITY ASPARTATE/GLUTAMATE TRANSPORTER),; 600839 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER),; 600840 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER),; 600968 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 3;; 601253 CAVEOLIN 3; CAV3; 601295 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY),; 604119 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER; 605194 CRYPTIC PROTEIN; 605221 FUS-INTERACTING PROTEIN 1; FUSIP1; 606072 RIPPLING MUSCLE DISEASE; RMD; 606193 SOLUTE CARRIER FAMILY 13 (SODIUM/SULFATE SYMPORTER), MEMBER 1; SLC13A1; 606803 THIOESTERASE, ADIPOSE-ASSOCIATED; THEA; Clinical Synopsis for 179730 RELAXIN 1; RLN1; Clinical Synopsis for 179740 RELAXIN 2; RLN2

March 27, 2002
New Entries:: 606799 STROKE, SUSCEPTIBILITY TO, 1; 606801 MACROPHAGE ERYTHROBLAST ATTACHER; MAEA; Clinical Synopsis for 601868 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13
Changed Entries:: 103280 H19 GENE; H19; 109760 5-@HYDROXYTRYPTAMINE RECEPTOR 1A; HTR1A; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 136850 FUMARATE HYDRATASE; FH; 150330 LAMIN A/C; LMNA; 157300 MIGRAINE WITH AURA, SUSCEPTIBILITY TO; MGAU; 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1; 190920 TROPHOBLAST GLYCOPROTEIN; TPBG; 192020 UTEROGLOBIN; UGB; 218700 THYROID DYSGENESIS; 234000 HAGEMAN FACTOR DEFICIENCY; 235200 HEMOCHROMATOSIS; HFE; 236250 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H; 300023 GTPase-ACTIVATING PROTEIN, RHO, 4; ARHGAP4; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600676 CATR TUMORIGENIC CONVERSION 1; CATR1; 600749 CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE; 601367 STROKE; 601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7; 601868 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13; 602194 PROTEASE, SERINE, 11; PRSS11; 602222 BENE PROTEIN; 602287 ERp29, RAT, HOMOLOG OF; 602290 TRIPARTITE MOTIF-CONTAINING 32; TRIM32; 603501 POLY(ADP-RIBOSE) GLYCOHYDROLASE; PARG; 603559 MYOTUBULARIN-RELATED PROTEIN 4; MTMR4; 603836 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA/BETA SUBCOMPLEX, 1; NDUFAB1; 603870 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 3; CBFA2T3; 604398 MAMMAGLOBIN 2; MGB2; 604688 A-KINASE ANCHOR PROTEIN 5; AKAP5; 605562 MAMMAGLOBIN 1; MGB1; 605588 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1; 605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; 606531 SECRETOGLOBIN, FAMILY 3A, MEMBER 2; SCGB3A2; Clinical Synopsis for 184840 STICKLER SYNDROME, TYPE III; STL3; Clinical Synopsis for 277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS

March 26, 2002
New Entries:: 606761 MALONYL-CoA DECARBOXYLASE; MLYCD; 606790 CMRF35H ANTIGEN; 606791 TPTE AND PTEN HOMOLOGOUS INOSITOL LIPID PHOSPHATASE; TPIP; 606792 HISTAMINE RECEPTOR H4; 606793 AMINOPEPTIDASE, PUROMYCIN-SENSITIVE; NPEPPS; 606794 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 10; SLC25A10; 606795 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 17; SLC25A17; 606798 BLEPHAROSPASM, FOCAL DYSTONIA
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 106210 PAIRED BOX GENE 6; PAX6; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 126453 DOPAMINE RECEPTOR D5; DRD5; 139320 GNAS COMPLEX LOCUS; GNAS; 139605 'HAIRY,' DROSOPHILA, HOMOLOG OF; HRY; 142790 CD74 ANTIGEN; CD74; 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3; 163731 NITRIC OXIDE SYNTHASE 1; NOS1; 191160 TUMOR NECROSIS FACTOR; TNF; 248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY; 600013 TRANSCRIPTION FACTOR YY1; YY1; 600620 FK506-BINDING PROTEIN 1B; FKBP1B; 601268 CHEMOKINE (C-C) RECEPTOR 3; CCR3; 603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ; 603735 AMINE OXIDASE, COPPER-CONTAINING, 3; AOC3; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605353 GHRELIN; 605896 ENDOTHELIN-CONVERTING ENZYME-LIKE 1; ECEL1; 606370 THIAMINE PYROPHOSPHOKINASE; TPK1; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A; 606786 CMRF35 ANTIGEN; 606794 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 10; SLC25A10; 606795 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 17; SLC25A17; Clinical Synopsis for 215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED; Clinical Synopsis for 255110 MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II; Clinical Synopsis for 260920 HYPER-IgD SYNDROME; HIDS

March 25, 2002
New Entries:: 606776 TRANSGLUTAMINASE 7; 606781 TRANSKETOLASE; TKT; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A; 606786 CMRF35 ANTIGEN; 606787 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1; 606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO; 606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 8; Clinical Synopsis for 190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP; 138130 GLUTAMATE DEHYDROGENASE 1; GLUD1; 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 139605 'HAIRY,' DROSOPHILA, HOMOLOG OF; HRY; 142250 HEMOGLOBIN, GAMMA G; HBG2; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42; 190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3; 232300 GLYCOGEN STORAGE DISEASE II; 277730 WERNICKE-KORSAKOFF SYNDROME; 300044 TRANSKETOLASE-LIKE 1; TKTL1; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 603196 COCHLIN; COCH; 603324 GAP JUNCTION PROTEIN, BETA-3; GJB3; 603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4; 603805 TRANSGLUTAMINASE 5; TGM5; 606500 SECRETOGLOBIN, FAMILY 3A, MEMBER 1; SCGB3A1; 606538 MYOSIN IC; MYO1C; 606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8;; 606776 TRANSGLUTAMINASE 7; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; Clinical Synopsis for 150230 LANGER-GIEDION SYNDROME; LGS; Clinical Synopsis for 211750 C SYNDROME; Clinical Synopsis for 229850 FRYNS SYNDROME; FRNS; Clinical Synopsis for 255110 MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II

March 22, 2002
New Entries:: 300383 PROPERDIN P FACTOR, COMPLEMENT; PFC; 606765 THYROID PEROXIDASE; TPO; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; 606778 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 1; 606779 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 2; 606780 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 3; 606782 C-TYPE LECTIN-LIKE RECEPTOR 1; 606783 C-TYPE LECTIN-LIKE RECEPTOR 2
Changed Entries:: 135630 INTEGRIN, BETA-1; ITGB1; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 176270 PRADER-WILLI SYNDROME; PWS; 176400 PRECOCIOUS PUBERTY; 214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A; 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; 274500 THYROID HORMONE ORGANIFICATION DEFECT II; 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS; 312060 PROPERDIN DEFICIENCY, X-LINKED; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601543 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 8; DFNA8; 601661 UBIQUITIN-CONJUGATING ENZYME E2I; UBE2I; 601842 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 12; DFNA12; 602076 VANILLOID RECEPTOR 1; VR1; 602362 GTPase-ACTIVATING PROTEIN, RAN, 1; RANGAP1; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B; 605025 INTEGRIN, ALPHA-3; ITGA3; 605347 PEPTIDYLARGININE DEIMINASE V; PADI5; 606755 PEPTIDYLARGININE DEIMINASE III; PADI3; 606765 THYROID PEROXIDASE; TPO

March 21, 2002
New Entries:: 606762 HYPERINSULINISM-HYPERAMMONEMIA SYNDROME; 606767 VOLTAGE-GATED POTASSIUM CHANNEL 6.3; 606769 DNA HELICASE HEL308; 606770 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5; 606771 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14; 606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN; 606773 HEMIFACIAL MYOHYPERPLASIA; 606774 ALDEHYDE REDUCTASE-LIKE 6; ALDRL6; 606775 CHONDROITIN SULFATE PROTEOGLYCAN 5; CSPG5; Clinical Synopsis for 606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT
Changed Entries:: 110900 BLOOD GROUP--KELL-CELLANO SYSTEM; KEL; 113705 BREAST CANCER, TYPE 1; BRCA1; 138130 GLUTAMATE DEHYDROGENASE 1; GLUD1; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147570 INTERFERON, GAMMA; IFNG; 176871 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600826 CHONDROITIN SULFATE PROTEOGLYCAN 3; CSPG3; 601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS; 601820 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR; 604457 SP110 NUCLEAR BODY PROTEIN; SP110; 605353 GHRELIN; 605380 FIBROBLAST GROWTH FACTOR 23; FGF23; 605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1; 605696 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 2; KCNG2; 606374 BETA-1,3-GLUCURONYLTRANSFERASE 3; B3GAT3; 606767 VOLTAGE-GATED POTASSIUM CHANNEL 6.3; 606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT; 606770 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5; 606771 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14; 606774 ALDEHYDE REDUCTASE-LIKE 6; ALDRL6; 606775 CHONDROITIN SULFATE PROTEOGLYCAN 5; CSPG5

March 20, 2002
New Entries:: 606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT
Changed Entries:: 118450 ALAGILLE SYNDROME; AGS; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 139320 GNAS COMPLEX LOCUS; GNAS; 160980 CARNEY COMPLEX, TYPE 1; CNC1; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B; 191306 KINASE INSERT DOMAIN RECEPTOR; KDR; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 202700 NEUTROPENIA, CONGENITAL, AUTOSOMAL DOMINANT OR SPORADIC; 234500 HARTNUP DISORDER; 236670 WALKER-WARBURG SYNDROME; 254130 MIYOSHI MYOPATHY; MM; 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; 601281 SEMAPHORIN 3B; SEMA3B; 601712 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2; BIRC2; 601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2; 602089 HEMANGIOMA, CAPILLARY INFANTILE; 603009 DYSFERLIN; DYSF; 604114 PHOSPHOLIPASE C, BETA-2; PLCB2; 605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1; 606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT

March 19, 2002
New Entries:: 606766 AZOOSPERMIA, NONOBSTRUCTIVE; Clinical Synopsis for 300331 THROMBOCYTOSIS, FAMILIAL X-LINKED
Changed Entries:: 114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 191290 TYROSINE HYDROXYLASE; TH; 194534 ZINC FINGER PROTEIN 24; ZNF24; 243305 INVERSIN; 245349 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; 279000 YOUNG SYNDROME; 300331 THROMBOCYTOSIS, FAMILIAL X-LINKED; 300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,; 304700 MOHR-TRANEBJAERG SYNDROME; MTS; 311150 OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA; 601597 B-CELL TRANSLOCATION GENE 2; BTG2; 601645 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), GAMMA; PPP2R5C; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 602095 SOLUTE CARRIER FAMILY 30, MEMBER 4; SLC30A4; 606188 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 28; ADAM28; 606758 DUAL OXIDASE 1; DUOX1; Clinical Synopsis for 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; Clinical Synopsis for 229300 FRIEDREICH ATAXIA 1; FRDA; Clinical Synopsis for 229850 FRYNS SYNDROME; FRNS; Clinical Synopsis for 232400 GLYCOGEN STORAGE DISEASE III; Clinical Synopsis for 600649 HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE

March 18, 2002
New Entries:: Clinical Synopsis for 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
Changed Entries:: 103300 AGLOSSIA-ADACTYLIA; 109565 B-CELL LYMPHOMA 6; BCL6; 110800 BLOOD GROUP--I SYSTEM; Ii; 113100 BRACHYDACTYLY, TYPE C; BDC; 119300 VAN DER WOUDE SYNDROME; VWS; 122470 CORNELIA DE LANGE SYNDROME 1; CDL1; 129010 EARLY GROWTH RESPONSE 2; EGR2; 150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN; 176805 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1; PTGS1; 212750 CELIAC DISEASE; CD; 227400 FACTOR V DEFICIENCY; 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME; 245600 LARSEN SYNDROME, RECESSIVE; 277900 WILSON DISEASE; 601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D; 602358 HYPOCRETIN; HCRT; 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; 605383 INTERLEUKIN 21 RECEPTOR; IL21R; Clinical Synopsis for 100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; Clinical Synopsis for 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Clinical Synopsis for 134780 FEMORAL-FACIAL SYNDROME; FFS; Clinical Synopsis for 154780 MARSHALL SYNDROME; Clinical Synopsis for 200700 CHONDRODYSPLASIA, GREBE TYPE; Clinical Synopsis for 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; Clinical Synopsis for 232200 GLYCOGEN STORAGE DISEASE I; Clinical Synopsis for 232220 GLYCOGEN STORAGE DISEASE Ib; Clinical Synopsis for 232400 GLYCOGEN STORAGE DISEASE III; Clinical Synopsis for 232500 GLYCOGEN STORAGE DISEASE IV; Clinical Synopsis for 232600 GLYCOGEN STORAGE DISEASE V; Clinical Synopsis for 232700 GLYCOGEN STORAGE DISEASE VI; Clinical Synopsis for 232800 GLYCOGEN STORAGE DISEASE VII; Clinical Synopsis for 305450 FG SYNDROME; FGS1; Clinical Synopsis for 306000 GLYCOGEN STORAGE DISEASE VIII

March 15, 2002
New Entries:: 606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2; 606764 GASTROINTESTINAL STROMAL TUMOR; GIST
Changed Entries:: 151410 BREAKPOINT CLUSTER REGION; BCR; 164185 OCULAR CICATRICIAL PEMPHIGOID; OCP; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 242650 PRIMARY CILIARY DYSKINESIA; PCD; 244400 KARTAGENER SYNDROME; 300374 SH3-DOMAIN KINASE-BINDING PROTEIN 1; SH3KBP1; 306700 HEMOPHILIA A; 600620 FK506-BINDING PROTEIN 1B; FKBP1B; 603362 SH3 DOMAIN, GRB2-LIKE, 3; SH3GL3; 603455 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 2; RIPK2; 604366 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1; 604465 SH3 DOMAIN, GRB2-LIKE, 2; SH3GL2

March 14, 2002
New Entries:: 606758 DUAL OXIDASE 1; DUOX1; 606759 DUAL OXIDASE 2; DUOX2
Changed Entries:: 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1; 100710 CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1; CHRNB1; 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE; 106300 ANKYLOSING SPONDYLITIS; AS; 112260 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, BONE; BGLAP; 114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 147045 Fc FRAGMENT OF IgA, RECEPTOR FOR; FCAR; 152427 LONG QT SYNDROME 2; LQT2; 154870 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP; 164761 RET PROTOONCOGENE; RET; 165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG;; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 234500 HARTNUP DISORDER; 236670 WALKER-WARBURG SYNDROME; 300374 SH3-DOMAIN KINASE-BINDING PROTEIN 1; SH3KBP1; 313700 ANDROGEN RECEPTOR; AR; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600169 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE A; MICA; 600291 ADENYLATE CYCLASE 3; ADCY3; 600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1; 600488 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5; 601462 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS; 601884 HIGH BONE MASS; HBM; 602345 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3;; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602773 RENAL CELL CARCINOMA 4; 603651 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 4;; 604465 SH3 DOMAIN, GRB2-LIKE, 2; SH3GL2; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 606384 UBIQUITIN PROTEIN LIGASE NEDD4-LIKE; NEDD4L

March 13, 2002
New Entries:: 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD; 300377 DYSTROPHIN; DMD; 606585 ENAMELIN; ENAM
Changed Entries:: 102574 ACTININ, ALPHA-3; ACTN3; 104500 AMELOGENESIS IMPERFECTA 2, HYPOPLASTIC LOCAL, AUTOSOMAL DOMINANT;; 106100 ANGIOEDEMA, HEREDITARY; HAE; 106150 ANGIOTENSIN I; AGT; 107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT; 107300 ANTITHROMBIN III DEFICIENCY; 107400 PROTEASE INHIBITOR 1; PI; 109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1; 113810 BULLOUS PEMPHIGOID ANTIGEN 1; BPAG1; 114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 122500 CORTICOSTEROID-BINDING GLOBULIN; CBG; 123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM; 128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1; 128240 UTROPHIN; UTRN; 130135 PROTEASE INHIBITOR 2, MONOCYTE/NEUTROPHIL DERIVED; ELANH2; 142360 HEPARIN COFACTOR II; HCF2; 145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1; 147935 PROTEASE INHIBITOR 4; PI4; 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1; 151628 LINE RETROTRANSPOSABLE ELEMENT 2; LRE2; 154790 PROTEASE INHIBITOR 5; PI5; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 156225 LAMININ, ALPHA-2; LAMA2; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES; 159991 MYOGENIC FACTOR 6; MYF6; 160150 MYOPATHY, CENTRONUCLEAR; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163731 NITRIC OXIDE SYNTHASE 1; NOS1; 172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF; 173321 PROTEASE INHIBITOR 6; PI6; 173360 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1; 173390 PLASMINOGEN ACTIVATOR INHIBITOR, TYPE 2; PAI2; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 177010 PROTEASE INHIBITOR 7; PI7; 182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2; 253300 SPINAL MUSCULAR ATROPHY I; SMA1; 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C; 253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD; 264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE; 275000 GRAVES DISEASE; 300017 FILAMIN A; FLNA; 300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4; 300037 GLYPICAN 3; GPC3; 300052 DYSTROPHIN-RELATED PROTEIN 2; DRP2; 300077 MENTAL RETARDATION, X-LINKED 29; MRX29; 300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1; 300161 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3; 300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5; 300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1; 300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA; 300377 DYSTROPHIN; DMD; 300500 ALBINISM, OCULAR, TYPE I; OA1; 300600 ALBINISM, OCULAR, TYPE II; OA2; 301200 AMELOGENESIS IMPERFECTA 1, HYPOPLASTIC TYPE; AIH1; 302045 CARDIOMYOPATHY, DILATED, X-LINKED; XLCM; 302350 CATARACT-DENTAL SYNDROME; 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2; 305400 FACIOGENITAL DYSPLASIA; 306400 GRANULOMATOUS DISEASE, CHRONIC; CGD; 307030 HYPERGLYCEROLEMIA; 309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1; 309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY; 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX; 311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA; 312040 POLYMERASE, DNA, ALPHA; POLA; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1; 314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR; 600027 SYNTROPHIN, BETA-2; SNTB2; 600119 SARCOGLYCAN, ALPHA; SGCA; 600695 TRANSCRIPTION ELONGATION FACTOR B, 1-LIKE; TCEB1L; 600942 COLLAGEN-BINDING PROTEIN 1; CBP1; 600943 COLLAGEN-BINDING PROTEIN 2; CBP2; 601116 GLUTAMATE RECEPTOR, METABOTROPIC, 8; GRM8; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601239 DYSTROBREVIN, ALPHA; DTNA; 601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F; 601597 B-CELL TRANSLOCATION GENE 2; BTG2; 601697 PROTEASE INHIBITOR 8, OVALBUMIN TYPE; PI8; 601799 PROTEASE INHIBITOR 9, OVALBUMIN TYPE; PI9; 601841 PROTEIN C INHIBITOR; PCI; 602041 HOMEO BOX 3A, NK; NKX3A; 602116 GLIOMA-AMPLIFIED SEQUENCE 41; 602409 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 10; MLLT10; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603386 THYROID CARCINOMA, NONMEDULLARY, WITH CELL OXYPHILIA; 603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE; 604149 SARCOGLYCAN, EPSILON; SGCE; 604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E; 606352 ALSIN; 606585 ENAMELIN; ENAM; 606760 ZINC FINGER PROTEIN 208; ZNF208

March 12, 2002
New Entries:: 606760 ZINC FINGER PROTEIN 208; ZNF208
Changed Entries:: 113705 BREAST CANCER, TYPE 1; BRCA1; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2; 142957 HOMEO BOX A10; HOXA10; 143100 HUNTINGTON DISEASE; HD; 150390 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 1; LTBP1; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 166000 ENCHONDROMATOSIS, MULTIPLE; 171150 SULFOTRANSFERASE FAMILY 1A, PHENOL-PREFERRING, MEMBER 1; SULT1A1; 176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70; 179520 RAS-RELATED PROTEIN 1A; RAP1A; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 194072 WAGR SYNDROME; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY; 208900 ATAXIA-TELANGIECTASIA; AT; 314850 KELL BLOOD GROUP PRECURSOR; XK; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600085 PROTEIN-TYROSINE KINASE SYK; SYK; 600446 ADENOSINE A2B RECEPTOR; ADORA2B; 600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2; 600512 EPILEPSY, PARTIAL, WITH AUDITORY FEATURES; ADPEAF; 600576 GATA-BINDING PROTEIN 4; GATA4; 600665 MELATONIN RECEPTOR 1A; MTNR1A; 600871 GROWTH FACTOR-INDEPENDENT 1; GFI1; 600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2; 602041 HOMEO BOX 3A, NK; NKX3A; 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1; 602432 OPTINEURIN; OPTN; 602615 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN; 602711 FE65-LIKE 2; 602812 H3 HISTONE FAMILY, MEMBER C; H3FC; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 603803 DACHSHUND, DROSOPHILA, HOMOLOG OF; DACH; 604511 CHROMOBOX HOMOLOG 1; CBX1; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 604815 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 2; LILRB2; 604821 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 4; LILRB4; 605899 GLYCINE ENCEPHALOPATHY; GCE; 606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ; 606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8;; 606682 HERMANSKY-PUDLAK SYNDROME GENE 4; HPS4; Clinical Synopsis for 188550 THYROID CARCINOMA, PAPILLARY; Clinical Synopsis for 213700 CEREBROTENDINOUS XANTHOMATOSIS

March 11, 2002
New Entries:: 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
Changed Entries:: 104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 122500 CORTICOSTEROID-BINDING GLOBULIN; CBG; 123830 CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP; 124092 INTERLEUKIN 10; IL10; 125220 DEFENSIN, ALPHA, 1; DEFA1; 133170 ERYTHROPOIETIN; EPO; 136820 FUCOSIDASE, ALPHA-L, 2; FUCA2; 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3; 143100 HUNTINGTON DISEASE; HD; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147620 INTERLEUKIN 6; IL6; 147760 INTERLEUKIN 1-ALPHA; IL1A; 147920 KABUKI SYNDROME; 150390 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 1; LTBP1; 160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6; 162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB; 164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 171150 SULFOTRANSFERASE FAMILY 1A, PHENOL-PREFERRING, MEMBER 1; SULT1A1; 171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 1; PIK3R1; 191044 TROPONIN I, CARDIAC; TNNI3; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 193400 VON WILLEBRAND DISEASE; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-@BETA-HYDROXYLASE DEFICIENCY; 227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; 238310 AMINOMETHYLTRANSFERASE; AMT; 262850 PLASMIN INHIBITOR DEFICIENCY; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 277730 WERNICKE-KORSAKOFF SYNDROME; 300044 TRANSKETOLASE-LIKE 1; TKTL1; 308350 INFANTILE SPASM SYNDROME, X-LINKED; 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS; 313700 ANDROGEN RECEPTOR; AR; 314850 KELL BLOOD GROUP PRECURSOR; XK; 516004 COMPLEX I, SUBUNIT ND4L; MTND4L; 535000 LEBER OPTIC ATROPHY; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 600985 TENASCIN-XB; TNXB; 601628 MODIFIER OF VON WILLEBRAND FACTOR; 602090 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 3; LTBP3; 602091 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2; 602290 TRIPARTITE MOTIF-CONTAINING 32; TRIM32; 603044 PLEOMORPHIC ADENOMA GENE-LIKE 1; PLAGL1; 603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER; 603638 RIBOSOMAL PROTEIN L28; RPL28; 603758 GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1; 604214 CEREBRAL CAVERNOUS MALFORMATIONS 1 GENE; CCM1; 604325 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B; 604326 SPINOCEREBELLAR ATAXIA 12; SCA12; 604710 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4; LTBP4; 604933 MutY, E. COLI, HOMOLOG OF; MUTYH; 606349 GAMBLING, PATHOLOGIC; 606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 1; 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 2; 606546 HYDATIDIFORM MOLE-ASSOCIATED AND IMPRINTED TRANSCRIPT; HYMAI; 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1; 606624 NEUROGENIN 2; NEUROG2; 606632 ODOR, MALE, WOMEN'S CHOICE OF; 606719 MELANOMA-PANCREATIC CANCER SYNDROME; Clinical Synopsis for 169100 CHAR SYNDROME

March 8, 2002
New Entries:: 606751 TRANSMEMBRANE PROTEASE, SERINE 5; TMPRSS5
Changed Entries:: 104614 SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID; 106195 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 3; SLC4A3; 109190 SOLUTE CARRIER FAMILY 1 (NEUTRAL AMINO ACID TRANSPORTER), MEMBER 5;; 109280 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 2; SLC4A2; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I; PFHBI; 115080 CARDIAC CONDUCTION DEFECT; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),; 131242 ENDOTHELIN 3; EDN3; 133550 SOLUTE CARRIER FAMILY 1 (NEURONAL/EPITHELIAL HIGH AFFINITY GLUTAMATE; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER; 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 138160 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 138170 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 138230 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE/FRUCTOSE TRANSPORTER),; 140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; 140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA; 142702 HISTATIN 3; HTN3; 143100 HUNTINGTON DISEASE; HD; 144110 HYPERHIDROSIS PALMARIS ET PLANTARIS; 147570 INTERFERON, GAMMA; IFNG; 158070 SOLUTE CARRIER FAMILY 3 (ACTIVATOR OF DIBASIC AND NEUTRAL AMINO ACID; 163970 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE),; 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 176430 PREMATURE CHROMATID SEPARATION; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 182380 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1;; 182381 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 2;; 186854 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, TAURINE), MEMBER; 191050 TRYPTOPHANYL-tRNA SYNTHETASE; WARS; 191275 DOPACHROME TAUTOMERASE; DCT; 192430 VELOCARDIOFACIAL SYNDROME; 209600 ATRIOVENTRICULAR DISSOCIATION; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF; 212138 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER; 213600 FAHR DISEASE; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 230400 GALACTOSEMIA; 260400 SHWACHMAN-DIAMOND SYNDROME; SDS; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300133 VON HIPPEL-LINDAU BINDING PROTEIN 1; VBP1; 300156 CANCER/TESTIS ANTIGEN 1; CTAG1; 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; 310400 MYOTUBULAR MYOPATHY 1; MTM1; 600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600229 SOLUTE CARRIER FAMILY 1 (GLUTAMATE/NEUTRAL AMINO ACID TRANSPORTER),; 600444 SOLUTE CARRIER FAMILY 5 (INOSITOL TRANSPORTER), MEMBER 3; SLC5A3; 600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 600554 INTERLEUKIN 15; IL15; 600637 SOLUTE CARRIER FAMILY 1, HIGH AFFINITY ASPARTATE/GLUTAMATE TRANSPORTER,; 601019 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER; 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1; 601268 CHEMOKINE (C-C) RECEPTOR 3; CCR3; 601294 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 601601 TRANSCRIPTION FACTOR AP2-BETA; TFAP2B; 601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5; 601871 CYSTEINE- AND GLYCINE-RICH PROTEIN 2; CSRP2; 602110 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC29A2; 602193 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC29A1; 602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES; 602341 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16; 602398 DESMOSTEROLOSIS; 602598 PROSTAGLANDIN D2 SYNTHASE, HEMATOPOIETIC; 602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE;; 602737 SMALL INDUCIBLE CYTOKINE SUBFAMILY A (CYS-CYS), MEMBER 21; SCYA21; 602997 CUBILIN; CUBN; 603023 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603085 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 1; SLC31A1; 603088 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 2; SLC31A2; 603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3; 603240 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE-ANTISENSE;; 603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 604471 SOLUTE CARRIER FAMILY 1 (GLUTAMATE TRANSPORTER), MEMBER 7; SLC1A7; 604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, LOCUS 1; 605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 605905 RP42 HOMOLOG; 606046 SYNTAXIN 18; 606205 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, L-PROLINE),; 606415 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH; 606419 PRECURSOR RNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31; 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 2; 606654 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 7; 606671 ALL1-FUSED GENE FROM CHROMOSOME 3p21; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2; 606749 TUBULOINTERSTITIAL NEPHRITIS ANTIGEN; TINAG; 606751 TRANSMEMBRANE PROTEASE, SERINE 5; TMPRSS5

March 7, 2002
New Entries:: 606753 TETRATRICOPEPTIDE REPEAT DOMAIN 4; TTC4; 606754 SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1; SAMHD1; 606755 PEPTIDYLARGININE DEIMINASE III; 606756 17-@BETA-HYDROXYSTEROID DEHYDROGENASE VII; HSD17B7; 606757 SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER
Changed Entries:: 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 603290 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 2; SHANK2; 605070 EARLY ENDOSOME ANTIGEN 1; EEA1; 605101 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN; 606713 VAN DER WOUDE SYNDROME 2

March 6, 2002
New Entries:: 300381 ZINC FINGER PROTEIN 185; ZNF185; 606749 TUBULOINTERSTITIAL NEPHRITIS ANTIGEN; TINAG; 606750 CHROMOSOME 20 OPEN READING FRAME 183; C20ORF183; 606752 ACUTE HEMORRHAGIC LEUKOENCEPHALITIS
Changed Entries:: 102680 ADDUCIN 1; ADD1; 103600 ALBUMIN; ALB; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; 116806 CATENIN, BETA-1; CTNNB1; 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 139320 GNAS COMPLEX LOCUS; GNAS; 151410 BREAKPOINT CLUSTER REGION; BCR; 151660 LIPODYSTROPHY, FAMILIAL PARTIAL; FPLD; 152200 APOLIPOPROTEIN(a); LPA; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 158370 MUCIN 2, INTESTINAL; MUC2; 161560 INTERLEUKIN 12A; IL12A; 161561 INTERLEUKIN 12B; IL12B; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176730 INSULIN; INS; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 180380 RHODOPSIN; RHO; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1; 191170 TUMOR PROTEIN p53; TP53; 192090 CADHERIN 1; CDH1; 193400 VON WILLEBRAND DISEASE; 215700 CITRULLINEMIA, CLASSIC; 259500 OSTEOGENIC SARCOMA; 266200 PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; 300379 PUTATIVE RING ZINC FINGER PROTEIN NY-REN-43 ANTIGEN; 309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1; 590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI; 601210 POLY(rC)-BINDING PROTEIN 2; PCBP2; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601761 CASPASE 7, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP7; 601871 CYSTEINE- AND GLYCINE-RICH PROTEIN 2; CSRP2; 602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2; 602598 PROSTAGLANDIN D2 SYNTHASE, HEMATOPOIETIC; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 602809 KINESIN FAMILY MEMBER 5B; KIF5B; 603470 ARGININOSUCCINATE SYNTHETASE; ASS; 603566 DEAD/H BOX-BINDING PROTEIN 1; DDXBP1; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME; BACE; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL; 605504 KALLIKREIN 9; KLK9; 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; 606077 RNA-BINDING MOTIF PROTEIN 15; RBM15; 606078 MEGAKARYOBLASTIC LEUKEMIA 1 GENE; MKL1; 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1; 606641 BODY MASS INDEX; 606746 INTERLEUKIN 25; 606752 ACUTE HEMORRHAGIC LEUKOENCEPHALITIS; Clinical Synopsis for 169100 CHAR SYNDROME; Clinical Synopsis for 174300 POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP; Clinical Synopsis for 252100 MOHR SYNDROME; Clinical Synopsis for 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; Clinical Synopsis for 258850 ORAL-FACIAL-DIGITAL SYNDROME, TYPE III; Clinical Synopsis for 258860 ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV; Clinical Synopsis for 275350 TRANSCOBALAMIN II DEFICIENCY; Clinical Synopsis for 277170 VARADI-PAPP SYNDROME; Clinical Synopsis for 303350 MASA SYNDROME; Clinical Synopsis for 311200 OROFACIODIGITAL SYNDROME I; OFD1

March 5, 2002
New Entries:: 606742 TOLLOID-LIKE 1; TLL1; 606743 TOLLOID-LIKE 2; TLL2; 606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3; 606746 INTERLEUKIN 25; 606747 ZINC FINGER PROTEIN 161; ZNF161; 606748 COACTOSIN-LIKE PROTEIN
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 111730 N-ACETYLGALACTOSAMINYLTRANSFERASE II; 112264 BONE MORPHOGENETIC PROTEIN 1; BMP1; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 135150 BIRT-HOGG-DUBE SYNDROME; BHD; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 142702 HISTATIN 3; HTN3; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 161600 NAVICULAR BONE, ACCESSORY; 176640 PRION PROTEIN; PRNP; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 177045 PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9; 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 188050 THROMBOPHILIA; 189931 TRANSFER RNA PROLINE 2; TRP2; 189932 TRANSFER RNA LEUCINE 1; 189933 TRANSFER RNA THREONINE 2; TRT2; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 192340 ARGININE VASOPRESSIN; AVP; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 211980 LUNG CANCER; 212750 CELIAC DISEASE; CD; 216400 COCKAYNE SYNDROME, TYPE I; CKN1; 216411 COCKAYNE SYNDROME, TYPE III; 225755 ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY,; 227400 FACTOR V DEFICIENCY; 227810 FANCONI-BICKEL SYNDROME; FBS; 234810 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY; 236200 HOMOCYSTINURIA; 300202 SEDLIN; SEDL; 553000 ONCOCYTOMA; 601007 LEPTIN RECEPTOR; LEPR; 601384 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS E; LY6E; 601628 MODIFIER OF VON WILLEBRAND FACTOR; 601897 ZINC FINGER PROTEIN 148; ZNF148; 602404 PARKINSON DISEASE 3; 603174 HOMOCYSTEINEMIA; 603475 CHORDIN; CHRD; 605435 PROTEIN KINASE C, MU; PRKCM; 605658 INTERLEUKIN 17E; IL17E; 606269 B CELL-ACTIVATING FACTOR RECEPTOR; 606411 SOLUTE CARRIER FAMILY 13, SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER,; 606437 MYOKYMIA WITH NEONATAL EPILEPSY; 606484 MYOTROPHIN; MTPN; 606583 PEROXIREDOXIN 5; PRDX5; 606584 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 23; PTPN23; 606743 TOLLOID-LIKE 2; TLL2; 606747 ZINC FINGER PROTEIN 161; ZNF161; Clinical Synopsis for 259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG; Clinical Synopsis for 263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS; Clinical Synopsis for 303350 MASA SYNDROME; Clinical Synopsis for 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS1;

March 4, 2002
New Entries:: 606744 SECKEL SYNDROME 2
Changed Entries:: 167416 PAIRED BOX GENE 9; PAX9; 191170 TUMOR PROTEIN p53; TP53; 210600 SECKEL SYNDROME; 236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 304590 DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED; 304600 MOVED TO 304590; 600185 BREAST CANCER 2, EARLY-ONSET; BRCA2; 603182 INTERLEUKIN ENHANCER-BINDING FACTOR 3; ILF3; 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; Clinical Synopsis for 161200 NAIL-PATELLA SYNDROME; NPS

March 4, 2002
Changed Entries:: 114206 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D; 114480 BREAST CANCER; 164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS; 180440 RIBONUCLEASE A FAMILY, 1; RNASE1; 600985 TENASCIN-XB; TNXB; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

March 1, 2002
New Entries:: 606720 PLACENTAL PROTEIN 11; 606740 ZINC FINGER PROTEIN 180; ZNF180; 606741 ZINC FINGER PROTEIN 181; ZNF181
Changed Entries:: 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 136850 FUMARATE HYDRATASE; FH; 138160 SOLUTE CARRIER FAMILY 2, FACILITATED GLUCOSE TRANSPORTER, MEMBER 2;; 138700 APOLIPOPROTEIN H; APOH; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 150699 LEIOMYOMA, UTERINE; 150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN; 154700 MARFAN SYNDROME; MFS; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B; 167040 OXYSTEROL-BINDING PROTEIN; OSBP; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 300080 RNA-BINDING MOTIF PROTEIN 10; RBM10; 300269 HISTONE DEACETYLASE 8; 304590 DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED; 304600 REMOVED FROM DATABASE; 516060 ATP SYNTHASE 6; MTATP6; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600974 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7; 601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1; 601922 ANGIOPOIETIN 2; ANGPT2; 602571 RNA-BINDING MOTIF PROTEIN 4; RBM4; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602812 H3 HISTONE FAMILY, MEMBER C; H3FC; 602937 CBP/p300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH C-TERMINAL; 603037 LEFT-RIGHT DETERMINATION, FACTOR B; LEFTB; 604385 SODIUM CHANNEL, VOLTAGE-GATED, TYPE XI, ALPHA SUBUNIT; SCN11A; 604511 CHROMOBOX HOMOLOG 1; CBX1; 605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; 605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1; 606367 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF; 606602 BRAIN AND ACUTE LEUKEMIA GENE, CYTOPLASMIC; BAALC; Clinical Synopsis for 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE; Clinical Synopsis for 136760 FRONTONASAL DYSPLASIA; Clinical Synopsis for 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1; Clinical Synopsis for 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; Clinical Synopsis for 304600 REMOVED FROM DATABASE

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OMIM Update List for March, 2002

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