OMIM Update List for March, 2007

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Nucleotide

Protein

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OMIM Update List for March, 2007

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March 30, 2007
New Entries:: 610852 CILIARY DYSKINESIA, PRIMARY, 6; 610895 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING; 610902 CHROMOSOME 6 OPEN READING FRAME 55; C6ORF55
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 177650 PSEUDOEXFOLIATION OF THE LENS; 185430 CLUSTERIN; CLU; 187360 TEMPORAL ARTERITIS; 242650 PRIMARY CILIARY DYSKINESIA; PCD; 244400 KARTAGENER SYNDROME; 535000 LEBER OPTIC ATROPHY; 600167 HISTAMINE RECEPTOR H1; HRH1; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4; 602544 PARKIN; PARK2; 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 605116 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 9; CHRNA9; 605290 OPA1 GENE; OPA1; 605692 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7;; 606372 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 10; CHRNA10; 607421 THIOREDOXIN DOMAIN-CONTAINING 3; TXNDC3; 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2; 609983 VACUOLAR PROTEIN SORTING 4, S. CEREVISIAE, HOMOLOG OF, B; VPS4B; 610900 CHMP FAMILY, MEMBER 5; CHMP5

March 29, 2007
New Entries:: 610896 BRANCHIOOTORENAL SYNDROME 2; BOR2; 610898 SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3; 610899 CHMP FAMILY, MEMBER 4C; CHMP4C; 610900 CHMP FAMILY, MEMBER 5; CHMP5; 610901 CHMP FAMILY, MEMBER 6; CHMP6
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104775 AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 1; APLP1; 113650 BRANCHIOOTORENAL SYNDROME 1; BOR1; 123995 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 1; COX7A1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 164010 CHMP FAMILY, MEMBER 1A; CHMP1A; 262000 BJORNSTAD SYNDROME; BJS; 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD; 300456 CYCLIN B3; CCNB3; 300644 GALACTOSIDASE, ALPHA; GLA; 300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2; 600963 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1; 601653 EYES ABSENT 1; EYA1; 602588 BRANCHIOOTIC SYNDROME 1; BOS1; 602680 RHO GTPase-ACTIVATING PROTEIN 5; ARHGAP5; 602732 RHO GTPase-ACTIVATING PROTEIN 1; ARHGAP1; 606524 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2; SRGAP2; 606669 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 5; FXYD5; 608074 PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN; PDCD6IP; 608138 PROGRAMMED CELL DEATH 7; PDCD7; 608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2; 608150 PERIPHILIN 1; PPHLN1; 608151 WD REPEAT-CONTAINING PROTEIN 19; WDR19; 608152 PROSTAGLANDIN E SYNTHASE 2; PTGES2; 608153 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14A; PPP1R14A; 608155 SYNAPTOPODIN; SYNPO; 608159 PROTEASE, SERINE, 21; PRSS21; 608164 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 1; KCNV1; 608205 MITOCHONDRIAL TRANS-2-ENOYL-CoA REDUCTASE; MECR; 608214 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT; SCN3B; 608216 HYPERTENSION-RELATED CALCIUM-REGULATED GENE; 608218 KERATIN 20; KRT20; 608226 NANOS, DROSOPHILA, HOMOLOG OF, 1; NANOS1; 608230 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1I SUBUNIT; CACNA1I; 608239 SIGNAL PEPTIDE PEPTIDASE-LIKE 2B; 608240 SIGNAL PEPTIDE PEPTIDASE-LIKE 3; 608241 SMAD NUCLEAR INTERACTING PROTEIN 1; SNIP1; 608246 KERATIN 6, INNER ROOT SHEATH, 2; 608247 KERATIN 6, INNER ROOT SHEATH, 3; 608269 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER),; 608270 THREONINE ASPARTASE 1; TASP1; 608273 INTERLEUKIN 27; IL27; 608276 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 16;; 608277 B-CELL RAG-ASSOCIATED GENE; 608955 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 1; TTLL1; 609144 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR; 610464 G PROTEIN-COUPLED RECEPTOR 156; GPR156; 610467 PROTEIN TYROSINE PHOSPHATASE-LIKE (PROLINE INSTEAD OF CATALYTIC ARGININE),; 610468 INTERFERON-INDUCED PROTEIN 44; IFI44; 610470 TRANSFER RNA PHOSPHOTRANSFERASE 1; TRPT1; 610479 SERUM RESPONSE FACTOR BINDING PROTEIN 1; SRFBP1; 610496 RHO GTPase-ACTIVATING PROTEIN 29; ARHGAP29; 610499 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; RAPGEF6; 610682 OSTEOGENESIS IMPERFECTA, TYPE VII; 610845 SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE; 610846 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 10; LRRC10; 610847 ZINC FINGER PROTEIN 322A; ZNF322A; 610848 RAB15 EFFECTOR PROTEIN; 610849 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 6; TTLL6; 610850 XPA-BINDING PROTEIN 2; XAB2; 610851 CHROMOSOME 4 OPEN READING FRAME 16; C4ORF16; 610853 AT HOOK-CONTAINING TRANSCRIPTION FACTOR 1; AHCTF1; 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB; 610855 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 26; ANKRD26; 610856 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 30A; ANKRD30A; 610857 SMALL BREAST EPITHELIAL MUCIN; 610858 CHROMOSOME 14 OPEN READING FRAME 166; C14ORF166; 610859 RGD-, LEUCINE-RICH REPEAT-, TROPOMODULIN DOMAIN-, AND PROLINE-RICH; 610860 AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL; 610861 CHROMOSOME 14 OPEN READING FRAME 49; C14ORF49; 610862 DEGENERATIVE SPERMATOCYTE, DROSOPHILA, HOMOLOG OF, 2; DEGS2; 610863 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-4; GNB4; 610864 LQK1 PROTEIN; 610865 CHROMOSOME 14 OPEN READING FRAME 58; C14ORF58; 610866 URIDINE/CYTIDINE KINASE-LIKE 1; UCKL1; 610867 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 1: LRRTM1; 610868 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 2; LRRTM2; 610869 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 3; LRRTM3; 610870 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 4; LRRTM4; 610872 IBR DOMAIN-CONTAINING PROTEIN 3; IBRDC3; 610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1; 610874 SPERMATOGENESIS- AND CENTRIOLE-ASSOCATED 1; SPATC1; 610890 REGULATOR OF G PROTEIN SIGNALING 7-BINDING PROTEIN; RGS7BP; 610897 CHMP FAMILY, MEMBER 4B; CHMP4B; 610898 SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3

March 28, 2007
New Entries:: 300644 GALACTOSIDASE, ALPHA; GLA; 610891 FAMILY WITH SEQUENCE SIMILARITY 102, MEMBER A; FAM102A; 610892 SYNAPTOTAGAMIN 14-DERIVED PROTEIN; 610893 CHMP FAMILY, MEMBER 2A; CHMP2A; 610897 CHMP FAMILY, MEMBER 4B; CHMP4B
Changed Entries:: 104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA; 131240 ENDOTHELIN 1; EDN1; 164010 CHMP FAMILY, MEMBER 1A; CHMP1A; 188410 THYMOCYTE ANTIGEN CD1D; CD1D; 190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3; 300017 FILAMIN A; FLNA; 300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; 300401 PROTEOLIPID PROTEIN 1; PLP1; 300644 GALACTOSIDASE, ALPHA; GLA; 301500 FABRY DISEASE; 307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; 311800 PHOSPHOGLYCERATE KINASE 1; PGK1; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 601826 DIACYLGLYCEROL KINASE, DELTA, 130-KD; DGKD; 602431 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2; 605014 SYNTAXIN 11; STX11; 606486 CHMP FAMILY, MEMBER 1B; CHMP1B; 608021 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING; 609512 CHMP FAMILY, MEMBER 2B; CHMP2B; 610051 CHMP FAMILY, MEMBER 4A; CHMP4A; 610052 VACUOLAR PROTEIN SORTING 24, YEAST, HOMOLOG OF; VPS24; 610892 SYNAPTOTAGAMIN 14-DERIVED PROTEIN

March 27, 2007
New Entries:: 610889 IMPORTIN 11; IPO11; 610890 REGULATOR OF G PROTEIN SIGNALING 7-BINDING PROTEIN; RGS7BP
Changed Entries:: 107323 ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1; 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR; 164010 CHROMATIN-MODIFYING PROTEIN 1A; CHMP1A; 168820 PARAOXONASE 1; PON1; 602881 PHD FINGER PROTEIN 1; PHF1; 603342 SCHIZOPHRENIA 2; SCZD2; 604605 KALIRIN; KALRN; 606247 ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM; 606486 CHROMATIN-MODIFYING PROTEIN 1B; CHMP1B; 606591 MUS81, S. CEREVISIAE, HOMOLOG OF; MUS81; 608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5; 610052 VACUOLAR PROTEIN SORTING 24, YEAST, HOMOLOG OF; VPS24; 610840 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3; 610889 IMPORTIN 11; IPO11

March 26, 2007
New Entries:: 610883 POTOCKI-LUPSKI SYNDROME; PTLS; 610884 FANCONI ANEMIA-ASSOCIATED PROTEIN, 24-KD; 610885 ESSENTIAL MEIOTIC ENDONUCLEASE 1, S. POMBE, HOMOLOG OF, 1; EME1; 610886 ESSENTIAL MEIOTIC ENDONUCLEASE 1, S. POMBE, HOMOLOG OF, 2; EME2; 610887 POLYMERASE, DNA, NU; POLN; 610888 GASTRIC CANCER-RELATED GENE 224; Clinical Synopsis for 610338 RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL
Changed Entries:: 130000 EHLERS-DANLOS SYNDROME, TYPE I; 182290 SMITH-MAGENIS SYNDROME; SMS; 300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1; 300636 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1; 300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2; 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A; 600871 GROWTH FACTOR-INDEPENDENT 1; GFI1; 601595 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 1; SMAD1; 602008 RAN-BINDING PROTEIN 5; RANBP5; 602459 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15; 602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3; 603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5; 603342 SCHIZOPHRENIA 2; SCZD2; 604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD; 604906 SCHIZOPHRENIA 9; SCZD9; 605313 RNA-BINDING MOTIF PROTEIN 8A; RBM8A; 606591 MUS81, S. CEREVISIAE, HOMOLOG OF; MUS81; 606683 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 6; FXYD6; 606769 DNA HELICASE HEL308; 607265 CLATHRIN INTERACTOR 1; CLINT1; 610338 RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL; 610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1; 610884 FANCONI ANEMIA-ASSOCIATED PROTEIN, 24-KD; Clinical Synopsis for 232400 GLYCOGEN STORAGE DISEASE III; Clinical Synopsis for 607323 DUANE-RADIAL RAY SYNDROME; DRRS

March 23, 2007
New Entries:: 610875 SAPS DOMAIN FAMILY, MEMBER 1; SAPS1; 610876 HECT DOMAIN- AND ANKYRIN REPEAT-CONTAINING E3 UBIQUITIN PROTEIN LIGASE; 610877 SAPS DOMAIN FAMILY, MEMBER 2; SAPS2; 610878 VESICOURETERAL REFLUX 2; VUR2; 610879 SAPS DOMAIN FAMILY, MEMBER 3; SAPS3; 610880 CHROMOSOME 11 OPEN READING FRAME 24; C11ORF24; 610881 SUPPRESSOR OF VARIEGATION 4-20, DROSOPHILA, HOMOLOG OF, 1; SUV420H1; 610882 SJOGREN SYNDROME NUCLEAR AUTOANTIGEN 1; SSNA1
Changed Entries:: 106210 ANIRIDIA, TYPE II; AN2; 120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1; 123580 CRYSTALLIN, ALPHA-A; CRYAA; 134370 COMPLEMENT FACTOR H; CFH; 179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2; 180200 RETINOBLASTOMA; RB1; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 193000 VESICOURETERAL REFLUX 1; VUR1; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 194070 WILMS TUMOR 1; WT1; 219800 CYSTINOSIS, NEPHROPATHIC; CTNS; 300141 PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C; 300257 DANON DISEASE; 300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,; 304700 MOHR-TRANEBJAERG SYNDROME; MTS; 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;; 602431 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2; 602935 FATTY ACID AMIDE HYDROLASE; FAAH; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603667 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12;; 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13; 604277 SPG4 GENE; SPG4; 605286 CALPAIN 10; CAPN10; 605290 OPA1 GENE; OPA1; 607108 PAIRED BOX GENE 6; PAX6; 607383 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 13, YEAST, HOMOLOG OF;; 610563 KARYOPHERIN ALPHA-6; KPNA6; 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4; 610874 SPERMATOGENESIS- AND CENTRIOLE-ASSOCATED 1; SPATC1; 610875 SAPS DOMAIN FAMILY, MEMBER 1; SAPS1; 610876 HECT DOMAIN- AND ANKYRIN REPEAT-CONTAINING E3 UBIQUITIN PROTEIN LIGASE; 610877 SAPS DOMAIN FAMILY, MEMBER 2; SAPS2; Clinical Synopsis for 300257 DANON DISEASE

March 22, 2007
New Entries:: 300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED, 2; 610860 AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL; 610869 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 3; LRRTM3; 610872 IBR DOMAIN-CONTAINING PROTEIN 3; IBRDC3; 610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS; 610874 SPERMATOGENESIS- AND CENTRIOLE-ASSOCATED 1; SPATC1
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 109150 MACHADO-JOSEPH DISEASE; MJD; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 143100 HUNTINGTON DISEASE; HD; 147791 JACOBSEN SYNDROME; JBS; 150330 LAMIN A/C; LMNA; 150341 LAMIN B2; LMNB2; 153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL; 232400 GLYCOGEN STORAGE DISEASE III; 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; 300010 A-11 GENE; A11; 300150 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; 300202 TRACKING PROTEIN PARTICLE COMPLEX 2; TRAPPC2; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300392 WAS GENE; WAS; 300636 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED, 1; 301780 ARYLSULFATASE C, ISOZYME F; ARSC2; 301870 BIGLYCAN; BGN; 305370 TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1; 310310 MYCL-RELATED PROCESSED GENE; MYCL2; 310650 NUCLEAR RIBONUCLEIC ACID; nRNA; 600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2; 603009 DYSFERLIN; DYSF; 604167 CCCTC-BINDING FACTOR; CTCF; 604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1; 604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3; 605204 TORSIN-A; DYT1; 605353 GHRELIN; GHRL; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ADIPOQ; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2; 608155 SYNAPTOPODIN; SYNPO; 608205 MITOCHONDRIAL TRANS-2-ENOYL-CoA REDUCTASE; MECR; 609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1; 609558 PROSTATE CANCER, HEREDITARY, 6; Clinical Synopsis for 229850 FRYNS SYNDROME; FRNS; Clinical Synopsis for 300010 A-11 GENE; A11; Clinical Synopsis for 300150 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; Clinical Synopsis for 301780 ARYLSULFATASE C, ISOZYME F; ARSC2; Clinical Synopsis for 301870 BIGLYCAN; BGN; Clinical Synopsis for 305370 TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1; Clinical Synopsis for 310310 MYCL-RELATED PROCESSED GENE; MYCL2; Clinical Synopsis for 310650 NUCLEAR RIBONUCLEIC ACID; nRNA

March 21, 2007
New Entries:: 610864 LQK1 PROTEIN; 610865 CHROMOSOME 14 OPEN READING FRAME 58; C14ORF58; 610866 URIDINE/CYTIDINE KINASE-LIKE 1; UCKL1; 610867 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 1: LRRTM1; 610868 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 2; LRRTM2; 610870 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 4; LRRTM4; Clinical Synopsis for 607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2
Changed Entries:: 102200 ACROMEGALY; 107323 ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1; 120520 MEMBRANE METALLOENDOPEPTIDASE; MME; 138960 COLONY-STIMULATING FACTOR 2; CSF2; 138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 147796 JANUS KINASE 2; JAK2; 151530 ALANYL AMINOPEPTIDASE; ANPEP; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 262000 BJORNSTAD SYNDROME; BJS; 265120 PULMONARY ALVEOLAR PROTEINOSIS; 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD; 278300 XANTHINURIA, TYPE I; 300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX; 600946 GROWTH HORMONE RECEPTOR; GHR; 600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2; 603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1; 603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 603903 SICKLE CELL ANEMIA; 607379 NEUROFIBROMIN 2; NF2; 607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2; 608936 PROLINE-RICH 1; PROL1; 609144 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR; 610328 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 2; RUFY2; 610865 CHROMOSOME 14 OPEN READING FRAME 58; C14ORF58; 610867 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 1: LRRTM1; 610870 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 4; LRRTM4

March 20, 2007
New Entries:: 610863 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-4; GNB4; Clinical Synopsis for 177820 PSEUDO-VON WILLEBRAND DISEASE
Changed Entries:: 139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3; 139380 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1; GNB1; 139390 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2; GNB2; 146680 INSULIN-DEGRADING ENZYME; IDE; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 166220 OSTEOGENESIS IMPERFECTA, TYPE IV; 187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2; 259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE; 600576 GATA-BINDING PROTEIN 4; GATA4; 600946 GROWTH HORMONE RECEPTOR; GHR; 600957 ANTI-MULLERIAN HORMONE; AMH; 601656 GATA-BINDING PROTEIN 6; GATA6; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 603681 OTOFERLIN; OTOF; 604447 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5; 605497 CARTILAGE-ASSOCIATED PROTEIN; CRTAP; 607298 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-13; GNG13; 610682 OSTEOGENESIS IMPERFECTA, TYPE VII; 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB; Clinical Synopsis for 184400 SPRENGEL DEFORMITY; Clinical Synopsis for 191440 ULNAR HYPOPLASIA; Clinical Synopsis for 601709 QUEBEC PLATELET DISORDER; QPD; Clinical Synopsis for 610682 OSTEOGENESIS IMPERFECTA, TYPE VII

March 19, 2007
New Entries:: 610858 CHROMOSOME 14 OPEN READING FRAME 166; C14ORF166; 610859 RGD-, LEUCINE-RICH REPEAT-, TROPOMODULIN DOMAIN-, AND PROLINE-RICH; 610861 CHROMOSOME 14 OPEN READING FRAME 49; C14ORF49; 610862 DEGENERATIVE SPERMATOCYTE, DROSOPHILA, HOMOLOG OF, 2; DEGS2
Changed Entries:: 166210 OSTEOGENESIS IMPERFECTA, TYPE IIA; 176803 PROSTAGLANDIN D2 SYNTHASE, BRAIN; PTGDS; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 602383 OSTEOGLYCIN; OGN; 602431 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2; 602933 THYROID HORMONE RECEPTOR INTERACTOR 6; TRIP6; 603286 KISS1 METASTASIS SUPPRESSOR; KISS1; 604161 G PROTEIN-COUPLED RECEPTOR 54; GPR54; 604687 PROSTAGLANDIN D2 RECEPTOR; PTGDR; 605304 NEUROGLOBIN; NGB; 605497 CARTILAGE-ASSOCIATED PROTEIN; CRTAP; 606637 PEPTIDE YY, 2; PYY2; 609708 LIPOPROTEIN LIPASE; LPL; 610682 OSTEOGENESIS IMPERFECTA, TYPE VII; 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB; 610861 CHROMOSOME 14 OPEN READING FRAME 49; C14ORF49

March 16, 2007
New Entries:: 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB; 610855 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 26; ANKRD26; 610856 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 30A; ANKRD30A; 610857 SMALL BREAST EPITHELIAL MUCIN
Changed Entries:: 108300 STICKLER SYNDROME, TYPE I; STL1; 158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A; 158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A; 164160 LEPTIN; LEP; 166210 OSTEOGENESIS IMPERFECTA, TYPE IIA; 167400 PAROXYSMAL EXTREME PAIN DISORDER; 182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1; 191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B; 256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1; 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; 300017 FILAMIN A; FLNA; 300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10; 600175 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE; 600287 GLYCYL-tRNA SYNTHETASE; GARS; 600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2; 600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5; 600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A; 601143 DYNACTIN 1; DCTN1; 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR; 602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6; 604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1; 604841 STICKLER SYNDROME, TYPE II; STL2; 605726 NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; 606369 EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE; 607088 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IV; HMN4; 607641 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B; 608014 HEAT-SHOCK 22-KD PROTEIN 8; HSPB8; 608395 KARAK SYNDROME; 608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B; 608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; 608914 PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME; 608916 PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME; 608937 SH2B ADAPTOR PROTEIN 1; SH2B1; 609831 MMACHC GENE; 610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10; 610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11; 610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED; 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB; Clinical Synopsis for 109150 MACHADO-JOSEPH DISEASE; MJD; Clinical Synopsis for 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; Clinical Synopsis for 134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT; Clinical Synopsis for 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; Clinical Synopsis for 158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A; Clinical Synopsis for 166260 GNATHODIAPHYSEAL DYSPLASIA; GDD; Clinical Synopsis for 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; Clinical Synopsis for 184850 STIFF-PERSON SYNDROME; SPS; Clinical Synopsis for 219800 CYSTINOSIS, NEPHROPATHIC; CTNS; Clinical Synopsis for 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4; Clinical Synopsis for 263800 GITELMAN SYNDROME; Clinical Synopsis for 277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; Clinical Synopsis for 300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE; Clinical Synopsis for 600072 FATAL FAMILIAL INSOMNIA; FFI; Clinical Synopsis for 602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION; Clinical Synopsis for 606369 EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE; Clinical Synopsis for 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; Clinical Synopsis for 607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D

March 15, 2007
New Entries:: 610849 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 6; TTLL6; 610850 XPA-BINDING PROTEIN 2; XAB2; 610851 CHROMOSOME 4 OPEN READING FRAME 16; C4ORF16; 610853 AT HOOK-CONTAINING TRANSCRIPTION FACTOR 1; AHCTF1; Clinical Synopsis for 610708 OPTIC ATROPHY 5; OPA5
Changed Entries:: 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 130010 EHLERS-DANLOS SYNDROME, TYPE II; 130020 EHLERS-DANLOS SYNDROME, TYPE III; 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT; 130080 EHLERS-DANLOS SYNDROME, TYPE VIII; 147900 JOINT LAXITY, FAMILIAL; 176830 PROOPIOMELANOCORTIN; POMC; 182115 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 1; PSCD1; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 225400 EHLERS-DANLOS SYNDROME, TYPE VI; 225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE; 229200 EHLERS-DANLOS SYNDROME, TYPE VIB; 248200 STARGARDT DISEASE 1; STGD1; 304150 CUTIS LAXA, X-LINKED; 600088 MOVED TO 113810; 600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2; 601747 TRIPARTITE MOTIF-CONTAINING PROTEIN 23; TRIM23; 601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3; 603100 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2; 603202 LACTASE; LCT; 604116 CONE-ROD DYSTROPHY 3; CORD3; 608955 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 1; TTLL1; 609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6; 610541 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3B; PPP1R3B; 610682 OSTEOGENESIS IMPERFECTA, TYPE VII; 610708 OPTIC ATROPHY 5; OPA5; 610750 ZINC FINGER CCHC DOMAIN- AND RNA-BINDING MOTIF-CONTAINING PROTEIN; Clinical Synopsis for 158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME; Clinical Synopsis for 186300 SYNDACTYLY, TYPE V; Clinical Synopsis for 211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM

March 14, 2007
New Entries:: 300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;; 610846 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 10; LRRC10; 610847 ZINC FINGER PROTEIN 322A; ZNF322A; 610848 RAB15 EFFECTOR PROTEIN
Changed Entries:: 109091 CALRETICULIN; CALR; 109800 BLADDER CANCER; 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1; 120355 MATRIX METALLOPROTEINASE 8; MMP8; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 146110 HYPOGONADOTROPIC HYPOGONADISM; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147430 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT; 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; 152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS; 171880 MOVED TO 610681; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 186940 CD4 ANTIGEN; CD4; 187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1; 190010 TRANSFERRIN RECEPTOR; TFRC; 194522 ZINC FINGER PROTEIN 33B; ZNF33B; 238400 MOVED TO 144650; 262400 PITUITARY DWARFISM I; 300156 CANCER/TESTIS ANTIGEN 1B; CTAG1B; 300292 FORKHEAD BOX P3; FOXP3; 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP; 300641 SOLUTE CARRIER FAMILY 25, MEMBER 43; SLC25A43; 300642 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2; 300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601085 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL; 601483 PATERNALLY EXPRESSED GENE 3; PEG3; 602047 PHOSPHODIESTERASE 3B, cGMP-INHIBITED; PDE3B; 603956 CERVICAL CANCER; 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2; 608137 NASAL EMBRYONIC LHRH FACTOR; NELF; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; 610479 SERUM RESPONSE FACTOR BINDING PROTEIN 1; SRFBP1; 610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM; 610681 PHOSPHOFRUCTOKINASE, MUSCLE TYPE; PFKM; 610806 TBC1 DOMAIN FAMILY, MEMBER 3C; TBC1D3C; 610807 TBC1 DOMAIN FAMILY, MEMBER 3D; TBC1D3D; 610808 TBC1 DOMAIN FAMILY, MEMBER 3E; TBC1D3E; 610809 TBC1 DOMAIN FAMILY, MEMBER 3F; TBC1D3F; 610810 TBC1 DOMAIN FAMILY, MEMBER 3G; TBC1D3G; 610811 TBC1 DOMAIN FAMILY, MEMBER 3H; TBC1D3H; 610812 HYDIN, MOUSE, HOMOLOG OF; HYDIN; 610813 HYDIN, MOUSE, HOMOLOG OF, 2; HYDIN2; 610814 ANOPHTHALMIA, SYNDROMIC, WITH MILD FACIAL DYSMORPHISM AND NORMAL INTRAUTERINE; 610815 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, FOLATE), MEMBER 32;; 610817 SOLUTE CARRIER FAMILY 25, MEMBER 34; SLC25A34; 610818 SOLUTE CARRIER FAMILY 25, MEMBER 35; SLC25A35; 610819 SOLUTE CARRIER FAMILY 25, MEMBER 38; SLC25A38; 610820 SOLUTE CARRIER FAMILY 25, MEMBER 39; SLC25A39; 610821 SOLUTE CARRIER FAMILY 25, MEMBER 40; SLC25A40; 610822 SOLUTE CARRIER FAMILY 25, MEMBER 41; SLC25A41; 610823 SOLUTE CARRIER FAMILY 25, MEMBER 42; SLC25A42; 610824 SOLUTE CARRIER FAMILY 25, MEMBER 44; SLC25A44; 610825 SOLUTE CARRIER FAMILY 25, MEMBER 45; SLC25A45; 610826 SOLUTE CARRIER FAMILY 25, MEMBER 46; SLC25A46; 610837 BCL2-LIKE 12; BCL2L12; 610841 STROMAL INTERACTION MOLECULE 2; STIM2; 610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR; 610843 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX, 7.2-KD SUBUNIT; 610844 KIAA1840 GENE; KIAA1840; 610847 ZINC FINGER PROTEIN 322A; ZNF322A; 610848 RAB15 EFFECTOR PROTEIN; Clinical Synopsis for 121850 CORNEAL FLECK DYSTROPHY; Clinical Synopsis for 151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT; Clinical Synopsis for 217100 CONSTRICTING BANDS, CONGENITAL; Clinical Synopsis for 238400 MOVED TO 144650

March 13, 2007
New Entries:: 610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR; 610843 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX, 7.2-KD SUBUNIT; 610844 KIAA1840 GENE; KIAA1840; 610845 SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE; Clinical Synopsis for 603622 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17
Changed Entries:: 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION; 114290 CAMPOMELIC DYSPLASIA; 120830 COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA; C4BPA; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2; 131195 ENDOGLIN; ENG; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 137167 GAMMA-GLUTAMYL CARBOXYLASE; GGCX; 138079 GLUCOKINASE; GCK; 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS; 146110 HYPOGONADOTROPIC HYPOGONADISM; 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1; 147740 INTERLEUKIN 3; IL3; 147950 KALLMANN SYNDROME 2; KAL2; 150325 LAMININ, BETA-2; LAMB2; 150330 LAMIN A/C; LMNA; 151100 LEOPARD SYNDROME; 157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP; 158590 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II; HMN II; 163950 NOONAN SYNDROME 1; NS1; 167400 PAROXYSMAL EXTREME PAIN DISORDER; 171850 MOVED TO 171680 AND 610681; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; 184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; 184850 STIFF-PERSON SYNDROME; SPS; 188400 DIGEORGE SYNDROME; DGS; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191170 TUMOR PROTEIN p53; TP53; 192430 VELOCARDIOFACIAL SYNDROME; 194521 ZINC FINGER PROTEIN 33A; ZNF33A; 223500 DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE; 226150 ENTEROCOLITIS; 231090 HYDATIDIFORM MOLE; 242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE; 250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 270230 MOVED TO 187600; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2; 308100 ICHTHYOSIS, X-LINKED; 308300 INCONTINENTIA PIGMENTI; IP; 313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED; 600434 FATTY ACID-BINDING PROTEIN 4; FABP4; 600807 ASTHMA, SUSCEPTIBILITY TO; 601275 GLYCOPROTEIN M6A; GPM6A; 601684 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 1; RPS6KA1; 601685 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 2; RPS6KA2; 602006 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2; 602082 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 603622 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17; 603680 ATAXIN 8 OPPOSITE STRAND; ATXN8OS; 604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP; 605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 605580 INTERLEUKIN 23-ALPHA; IL23A; 607414 FEZ FAMILY ZINC FINGER 2; FEZF2; 607672 CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1; 607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12; 607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2; 608088 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND; 608137 NASAL EMBRYONIC LHRH FACTOR; NELF; 608160 SRY-BOX 9; SOX9; 609124 ZINC FINGER PROTEIN 385; ZNF385; 609480 MOVED TO 194521; 610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3; 610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR; Clinical Synopsis for 112600 BRACHYDACTYLY, TYPE A2; BDA2; Clinical Synopsis for 121850 CORNEAL FLECK DYSTROPHY; Clinical Synopsis for 151623 LI-FRAUMENI SYNDROME 1; LFS1; Clinical Synopsis for 171850 MOVED TO 171680 AND 610681; Clinical Synopsis for 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT; Clinical Synopsis for 188400 DIGEORGE SYNDROME; DGS; Clinical Synopsis for 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND; Clinical Synopsis for 201750 POR DEFICIENCY; Clinical Synopsis for 210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III; Clinical Synopsis for 217100 CONSTRICTING BANDS, CONGENITAL; Clinical Synopsis for 218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY; Clinical Synopsis for 224300 DYSOSTEOSCLEROSIS; Clinical Synopsis for 228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND; Clinical Synopsis for 270230 MOVED TO 187600; Clinical Synopsis for 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC

March 9, 2007
New Entries:: 300642 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2
Changed Entries:: 104000 ALOPECIA AREATA 1; 104300 ALZHEIMER DISEASE; AD; 114105 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA; 114480 BREAST CANCER; 120200 COLOBOMA, OCULAR; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 142385 HEPATIC LEUKEMIA FACTOR; HLF; 145500 HYPERTENSION, ESSENTIAL; 147141 TRANSCRIPTION FACTOR 3; TCF3; 147570 INTERFERON, GAMMA; IFNG; 151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT; 153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1; 162900 NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 182125 SEPIAPTERIN REDUCTASE; SPR; 187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1; 187601 THANATOPHORIC DYSPLASIA, TYPE II;; TD2; 194520 REMOVED FROM DATABASE; 194530 REMOVED FROM DATABASE; 194554 ZINC FINGER PROTEIN 45; ZNF45; 211980 LUNG CANCER; 214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1; 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH; 227220 EYE COLOR 3; EYCL3; 235000 HEMIHYPERPLASIA, ISOLATED; IH; 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 265100 PULMONARY ALVEOLAR MICROLITHIASIS; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 270230 MOVED TO 187600; 274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; 300187 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED; SRPX; 300265 ZINC FINGER PROTEIN OF CEREBELLUM, 3; ZIC3; 300304 CULLIN 4B; CUL4B; 300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE; 300501 MOVED TO 309549; 300636 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED; 300637 G ANTIGEN 7B; GAGE7B; 300638 G ANTIGEN 8; GAGE8; 300639 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 2; MRXHF2; 306955 HETEROTAXY, VISCERAL, X-LINKED; 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3; 600025 KINESIN, LIGHT CHAIN 1; KLC1; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600239 G PROTEIN-COUPLED RECEPTOR 1; GPR1; 600280 NUCLEOTIDE-BINDING PROTEIN 1; NUBP1; 600725 SONIC HEDGEHOG; SHH; 600880 BUDD-CHIARI SYNDROME; 601147 GROWTH/DIFFERENTIATION FACTOR 6; GDF6; 601367 STROKE, ISCHEMIC; 601657 DERMATAN SULFATE PROTEOGLYCAN 3; DSPG3; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 601714 TEA DOMAIN FAMILY MEMBER 4; TEAD4; 601781 MOVED TO 194554; 601800 HAIR COLOR 3; HCL3; 601934 G PROTEIN PATHWAY SUPPRESSOR 1; GPS1; 602005 SORTILIN-RELATED RECEPTOR; SORL1; 602077 REMOVED FROM DATABASE; 602300 GALACTOSE-3-O-SULFOTRANSFERASE 1; GAL3ST1; 602322 TELOMERASE RNA COMPONENT; TERC; 602396 ANNEXIN A8; ANXA8; 602529 TUBULIN, ALPHA-1A; TUBA1A; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 1; CCL4L1; 604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC; 604116 CONE-ROD DYSTROPHY 3; CORD3; 604217 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 604307 CATARACT, COPPOCK-LIKE; CCL; 605279 CARBOXYLESTERASE 3; CES3; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; 606235 THIOREDOXIN REDUCTASE 3; TXNRD3; 606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1; 606594 SET DOMAIN-CONTAINING PROTEIN 7; SETD7; 606832 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE; 606955 MOVED TO 194555; 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; 607144 DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE; 608234 GALACTOSE-3-O-SULFOTRANSFERASE 3; GAL3ST3; 608235 GALACTOSE-3-O-SULFOTRANSFERASE 4; GAL3ST4; 608237 GALACTOSE-3-O-SULFOTRANSFERASE 2; GAL3ST2; 608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1; 608853 BREAST CANCER CELL 2; 608965 CALCIUM-BINDING PROTEIN 4; CABP4; 609327 MICRO RNA 124A1; MIRN124A1; 609408 HOLOPROSENCEPHALY 8; HPE8; 609421 MOVED TO 609416; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609819 PROSTATE, RECTUM, AND COLON GENE; 610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67; 610309 UBIQUITIN-CONJUGATING ENZYME E2S; UBE2S; 610355 PARTNER AND LOCALIZER OF BRCA2; PALB2; 610376 CHEMOKINE, CXC MOTIF, RECEPTOR 7; CXCR7; 610382 PROSOPAGNOSIA, HEREDITARY; 610389 MAPBP-INTERACTING PROTEIN; 610414 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15; 610421 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED; 610425 CATARACT, LAMELLAR 2; 610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4; 610427 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B; 610430 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2; WM2; 610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; 610439 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4; 610441 TESTICULAR MICROLITHIASIS; 610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2; 610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1; 610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM; 610657 KIAA0196 GENE; KIAA0196; 610682 OSTEOGENESIS IMPERFECTA, TYPE VII; 610718 MICRO RNA 195; MIRN195; 610719 MICRO RNA 199A1; MIRN199A1; 610720 MICRO RNA 199A2; MIRN199A2; 610721 MICRO RNA 214; MIRN214; 610723 MICRO RNA 23B; MIRN23B; 610724 MICRO RNA 24-2; MIRN24-2; 610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE, 3; SCN3; 610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; 610746 TRANSMEMBRANE PROTEIN 15; TMEM15; 610747 STERILE ALPHA MOTIF DOMAIN-CONTAINING 4A; SAMD4A; 610748 UBIQUITIN-SPECIFIC PROTEASE 28; USP28; 610749 KELCH-LIKE 31; KLHL31; 610750 ZINC FINGER CCHC DOMAIN- AND RNA-BINDING MOTIF-CONTAINING PROTEIN; 610751 PHOSPHORIBOSYL TRANSFERASE DOMAIN-CONTAINING PROTEIN 1; PRTFDC1; 610752 URONYL 2-SULFOTRANSFERASE; UST; 610753 ALOPECIA AREATA 2; 610754 WINGS APART-LIKE PROTEIN, DROSOPHILA, HOMOLOG OF; WAPAL; 610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IB; MEN1B; 610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2; 610757 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 2; CCL4L2; 610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4; 610759 CORNELIA DE LANGE SYNDROME 3; CDLS3; 610760 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2; 610761 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 610762 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 610763 N-ACETYLNEURAMINIC ACID PHOSPHATASE; NANP; 610764 BENZODIAZAPINE RECEPTOR (PERIPHERAL)-ASSOCIATED PROTEIN 1; BZRAP1; 610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; 610766 MEIOSIS-SPECIFIC NUCLEAR STRUCTURAL PROTEIN 1; MNS1; 610767 AUTOPHAGY 16-LIKE 1; ATG16L1; 610768 DOLICHOL KINASE DEFICIENCY; 610769 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 3, S. CEREVISIAE, HOMOLOG OF;; 610770 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 2, S. CEREVISIAE, HOMOLOG OF;; 610771 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 5; CHD5; 610772 NK6, DROSOPHILA, HOMOLOG OF, 3; NKX6-3; 610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY; 610774 TRINUCLEOTIDE REPEAT-CONTAINING GENE 5; TNRC5; 610775 TP53-INDUCED GLYCOLYSIS AND APOPTOSIS REGULATOR; 610776 DAMAGE-REGULATED AUTOPHAGY MODULATOR; 610777 NEUROGUIDIN; NGDN; 610778 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1-LIKE; GNB1L; 610779 NUCLEOTIDE-BINDING PROTEIN 2; NUBP2; 610780 LARGE SUBUNIT GTPase 1, S. CEREVISIAE, HOMOLOG OF; LSG1; 610781 GUANOSINE MONOPHOSPHATE REDUCTASE 2; GMPR2; 610782 MICRO RNA 29A; MIRN29A; 610783 MICRO RNA 29B1; MIRN29B1; 610784 MICRO RNA 29C; MIRN29C; 610785 PDLIM1-INTERACTING KINASE 1-LIKE; PDIK1L; 610786 SNAP25-INTERACTING PROTEIN; 610787 PROSTATE, RECTUM, AND COLON GENE 2; 610788 SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE; 610789 p53 AND DNA DAMAGE-REGULATED 1; PDRG1; 610790 SOLUTE CARRIER FAMILY 35, MEMBER B1; SLC35B1; 610791 SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 2;; 610792 ORGANIC ANION TRANSPORTER UST6; 610793 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, KIDNEY), MEMBER 30;; 610794 ZINC FINGER PROTEIN 323; ZNF323; 610795 SORBIN AND SH3 DOMAINS-CONTAINING 3; SORBS3; 610796 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; 610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN; 610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1; 610800 AUTOPHAGY 10, S. CEREVISIAE, HOMOLOG OF; ATG10; 610801 SOLUTE CARRIER FAMILY 41, MEMBER 1; SLC41A1; 610802 SOLUTE CARRIER FAMILY 41, MEMBER 2; SLC41A2; 610803 SOLUTE CARRIER FAMILY 41, MEMBER 3; SLC41A3; 610804 SOLUTE CARRIER FAMILY 35 (UDP-GLUCURONIC ACID/UDP-N-ACETYLGALACTOSAMINE; 610805 RENAL HYPODYSPLASIA, NONSYNDROMIC, 1; 610816 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 33; SLC25A33; 610828 HOLOPROSENCEPHALY 7; HPE7; 610829 HOLOPROSENCEPHALY 9; HPE9; 610831 TBC1 DOMAIN FAMILY, MEMBER 10C; TBC1D10C; 610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N; 610833 N-ACETYLTRANSFERASE 5; NAT5; 610834 N-ACETYLTRANSFERASE 13; NAT13; 610835 NMDA RECEPTOR-REGULATED 2; NARG2; 610839 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1; 610840 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3

March 8, 2007
New Entries:: 610681 PHOSPHOFRUCTOKINASE, MUSCLE TYPE; PFKM; 610839 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1; 610840 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3; 610841 STROMAL INTERACTION MOLECULE 2; STIM2
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 103000 ADENYLATE KINASE 1; AK1; 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS; 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 126060 DIHYDROFOLATE REDUCTASE; DHFR; 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A; 146000 HYPOCHONDROPLASIA; HCH; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 151290 BETA-1,3-GLUCURONYLTRANSFERASE 1; B3GAT1; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP; 161561 INTERLEUKIN 12B; IL12B; 163700 NIPPLES, SUPERNUMERARY; 165720 OSTEOARTHRITIS; 167050 OXYTOCIN; OXT; 168600 PARKINSON DISEASE; PD; 171840 PHOSPHOFRUCTOKINASE, PLATELET TYPE; PFKP; 171850 MOVED TO 171680 AND 610681; 171860 PHOSPHOFRUCTOKINASE, LIVER TYPE; PFKL; 171880 MOVED TO 610681; 173470 INTEGRIN, BETA-3; ITGB3; 181450 ULNAR-MAMMARY SYNDROME; UMS; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS; 191170 TUMOR PROTEIN p53; TP53; 192500 LONG QT SYNDROME 1; LQT1; 218040 COSTELLO SYNDROME; 232800 GLYCOGEN STORAGE DISEASE VII; 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY; 300386 CD40 LIGAND; CD40LG; 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1; 600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E; 601367 STROKE, ISCHEMIC; 601469 PARATHYROID HORMONE RECEPTOR 2; PTHR2; 601471 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP1; 601621 T-BOX 3; TBX3; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602005 SORTILIN-RELATED RECEPTOR; SORL1; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 604558 INDUCIBLE T-CELL COSTIMULATOR; ICOS; 605330 INTERLEUKIN 22; IL22; 605383 INTERLEUKIN 21 RECEPTOR; IL21R; 605384 INTERLEUKIN 21; IL21; 605437 PROTEIN KINASE C, ETA; PRKCH; 605921 STROMAL INTERACTION MOLECULE 1; STIM1; 607594 ICOS DEFICIENCY; 607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2; 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7; 610681 PHOSPHOFRUCTOKINASE, MUSCLE TYPE; PFKM; Clinical Synopsis for 103950 ALPHA-2-MACROGLOBULIN; A2M; Clinical Synopsis for 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2; Clinical Synopsis for 226670 EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY; Clinical Synopsis for 256370 NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS; Clinical Synopsis for 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; Clinical Synopsis for 600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA

March 7, 2007
New Entries:: 610837 BCL2-LIKE 12; BCL2L12
Changed Entries:: 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 601835 CHEMOKINE, CC MOTIF, RECEPTOR 6; CCR6; 605547 FOLLISTATIN-LIKE 1; FSTL1

March 6, 2007
New Entries:: 610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N; 610833 N-ACETYLTRANSFERASE 5; NAT5; 610834 N-ACETYLTRANSFERASE 13; NAT13; 610835 NMDA RECEPTOR-REGULATED 2; NARG2
Changed Entries:: 100800 ACHONDROPLASIA; ACH; 104311 PRESENILIN 1; PSEN1; 112600 BRACHYDACTYLY, TYPE A2; BDA2; 113100 BRACHYDACTYLY, TYPE C; BDC; 114480 BREAST CANCER; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 146000 HYPOCHONDROPLASIA; HCH; 158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME; 180250 RETINOL-BINDING PROTEIN 4; RBP4; 180260 RETINOL-BINDING PROTEIN 1; RBP1; 181500 SCHIZOPHRENIA; SCZD; 185800 SYMPHALANGISM, PROXIMAL; SYM1; 209850 AUTISM; 227650 FANCONI ANEMIA; FA; 300013 ARD1 N-ACETYLTRANSFERASE, S. CEREVISIAE, HOMOLOG OF, A; ARD1A; 301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS; 600759 PRESENILIN 2; PSEN2; 601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2; 601525 CHITINASE 3-LIKE 1; CHI3L1; 602886 G PROTEIN-COUPLED RECEPTOR 39; GPR39; 603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B; 603667 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12;; 603827 BCL2-LIKE 11; BCL2L11; 604143 EXTRA SPINDLE POLES-LIKE 1; ESPL1; 604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2; 605353 GHRELIN; GHRL; 606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5; 606230 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3; 606232 CHROMOSOME 22q13.3 DELETION SYNDROME; 608000 NMDA RECEPTOR-REGULATED 1; NARG1; 608636 AUTISM, SUSCEPTIBILITY TO, 1A; 609305 LATEXIN; LXN; 610355 PARTNER AND LOCALIZER OF BRCA2; PALB2; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; 610834 N-ACETYLTRANSFERASE 13; NAT13; 610835 NMDA RECEPTOR-REGULATED 2; NARG2; Clinical Synopsis for 147750 IVIC SYNDROME; Clinical Synopsis for 164180 OCULOCEREBROCUTANEOUS SYNDROME

March 5, 2007
Changed Entries:: 108345 N-ACETYLTRANSFERASE 1; NAT1; 128230 DYSTONIA, DOPA-RESPONSIVE; DRD; 138750 GLYOXALASE I; GLO1; 209850 AUTISM; 220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1; 243400 ISONIAZID INACTIVATION; 600023 CADHERIN 11; CDH11; 600225 GTP CYCLOHYDROLASE I; GCH1; 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1; 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2; 608465 SENATAXIN; 608636 AUTISM, SUSCEPTIBILITY TO, 1A; 608803 GAP JUNCTION PROTEIN, ALPHA 12; GJA12; 608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1; 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11;; 610831 TBC1 DOMAIN FAMILY, MEMBER 10C; TBC1D10C

March 2, 2007
New Entries:: 610831 TBC1 DOMAIN FAMILY, MEMBER 10C; TBC1D10C; Clinical Synopsis for 605249 SEBASTIAN SYNDROME; SBS; Clinical Synopsis for 605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS; Clinical Synopsis for 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY
Changed Entries:: 107271 CD59 ANTIGEN P18-20; CD59; 143090 HUMAN T-CELL LEUKEMIA VIRUS RECEPTOR; HTLVR; 150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1; 151390 MOVED TO 180385; 153550 CHROMOSOME 5q DELETION SYNDROME; 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 180385 LIM DOMAIN ONLY 2; LMO2; 185880 VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; VAMP1; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 191092 TSC2 GENE; TSC2; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 223100 LACTASE PERSISTENCE; 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 601568 ADDUCIN 3; ADD3; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601803 PALLISTER-KILLIAN SYNDROME; PKS; 602005 SORTILIN-RELATED RECEPTOR; SORL1; 602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1; 603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8;; 603172 UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C; 603173 UBIQUITIN-CONJUGATING ENZYME E2M; UBE2M; 603381 FILAMIN B; FLNB; 603385 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 1; APPBP1; 604482 SIRTUIN 4; SIRT4; 604797 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 2;; 605249 SEBASTIAN SYNDROME; SBS; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 605338 INTERNEXIN, ALPHA; INA; 605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS; 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12; 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY; 608491 CYCLIN D-BINDING MYB-LIKE TRANSCRIPTION FACTOR 1; DMTF1; 608853 BREAST CANCER CELL 2; 609238 RAB GTPase-ACTIVATING PROTEIN 1-LIKE; RABGAP1L; Clinical Synopsis for 153640 FECHTNER SYNDROME; FTNS; Clinical Synopsis for 243310 IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION; Clinical Synopsis for 605156 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

March 1, 2007
New Entries:: 610828 HOLOPROSENCEPHALY 7; HPE7; 610829 HOLOPROSENCEPHALY 9; HPE9; 610830 POLYOSTEOLYSIS-HYPEROSTOSIS SYNDROME
Changed Entries:: 106150 ANGIOTENSIN I; AGT; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 109800 BLADDER CANCER; 147183 RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA,; 157170 HOLOPROSENCEPHALY 2; HPE2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 165230 GLI-KRUPPEL FAMILY MEMBER 2; GLI2; 167800 PANCREATITIS, HEREDITARY; PCTT; 175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 182930 MOVED TO 167800; 236100 HOLOPROSENCEPHALY; 275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL; 276000 PROTEASE, SERINE, 1; PRSS1; 300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2; 601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1; 601531 LEUKOTRIENE B4 RECEPTOR; LTB4R; 601626 LEUKEMIA, ACUTE MYELOID; AML; 601803 PALLISTER-KILLIAN SYNDROME; PKS; 602389 Tu TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TUFM; 602630 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR; TGIF; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603620 PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1; 603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3; 605185 DELTA-LIKE 4; DLL4; 605389 HYPOTRICHOSIS SIMPLEX; 606639 MITOCHONDRIAL ELONGATION FACTOR G1; GFM1; 606679 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5;; 609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1; 610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4; Clinical Synopsis for 112910 BRACHYDACTYLY, TYPE A6; BDA6; Clinical Synopsis for 139090 GRAY PLATELET SYNDROME; GPS; Clinical Synopsis for 182930 MOVED TO 167800; Clinical Synopsis for 222448 DONNAI-BARROW SYNDROME; Clinical Synopsis for 602535 MARSHALL-SMITH SYNDROME; Clinical Synopsis for 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

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OMIM Update List for March, 2007

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