OMIM Update List for December, 2005

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Nucleotide

Protein

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OMIM Update List for December, 2005

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December 30, 2005
New Entries:: 609813 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3; SCDO3; Clinical Synopsis for 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED; Clinical Synopsis for 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; Clinical Synopsis for 603543 LIMB-MAMMARY SYNDROME; LMS; Clinical Synopsis for 604185 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP2; Clinical Synopsis for 609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27; Clinical Synopsis for 609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; Clinical Synopsis for 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; Clinical Synopsis for 609428 TUKEL SYNDROME; Clinical Synopsis for 609432 SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD; Clinical Synopsis for 609452 MYOPATHY, MYOFIBRILLAR, ZASP-RELATED; Clinical Synopsis for 609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2
Changed Entries:: 103780 ALCOHOL DEPENDENCE; 209900 BARDET-BIEDL SYNDROME; BBS; 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1; 600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2; 602576 LUNATIC FRINGE; LFNG; 603543 LIMB-MAMMARY SYNDROME; LMS; 604867 TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16; 605195 MESODERM POSTERIOR 2; MESP2; 605755 DOUBLECORTIN DOMAIN CONTAINING 2; DCDC2; 607323 DUANE-RADIAL RAY SYNDROME; DRRS; 609428 TUKEL SYNDROME; 609432 SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD; Clinical Synopsis for 108500 EPISODIC ATAXIA, TYPE 2; EA2; Clinical Synopsis for 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; Clinical Synopsis for 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE; Clinical Synopsis for 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; Clinical Synopsis for 157900 MOEBIUS SYNDROME; MBS; Clinical Synopsis for 165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL; Clinical Synopsis for 208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;; Clinical Synopsis for 235800 HISTIDINEMIA; Clinical Synopsis for 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS; Clinical Synopsis for 255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD; Clinical Synopsis for 258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; Clinical Synopsis for 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL; Clinical Synopsis for 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; Clinical Synopsis for 309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED; Clinical Synopsis for 311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5; Clinical Synopsis for 601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1; Clinical Synopsis for 601471 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP1; Clinical Synopsis for 607323 DUANE-RADIAL RAY SYNDROME; DRRS; Clinical Synopsis for 609039 NARCOLEPSY 3; Clinical Synopsis for 609166 BRANCHIOGENIC-DEAFNESS SYNDROME; Clinical Synopsis for 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; Clinical Synopsis for 609428 TUKEL SYNDROME

December 29, 2005
New Entries:: 609812 DIABETES AND PANCREATIC EXOCRINE DYSFUNCTION
Changed Entries:: 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 114840 CARBOXYL-ESTER LIPASE; CEL; 117360 CEREBELLAR ATAXIA 4; CLA4; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 123730 CRYSTALLIN, GAMMA-S; CRYGS; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 135500 ZIMMERMANN-LABAND SYNDROME; ZLS; 142340 DIAPHRAGMATIC HERNIA 1; DIH1; 190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3; 194190 WOLF-HIRSCHHORN SYNDROME; WHS; 218040 COSTELLO SYNDROME; 222400 DIAPHRAGMATIC HERNIA 2; DIH2; 229850 FRYNS SYNDROME; FRNS; 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; 300017 FILAMIN A; FLNA; 300311 TESTIS-EXPRESSED GENE 11; TEX11; 311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 601450 DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS; 602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1; 602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2; 603745 SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3; 604284 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5; 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY; 606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4; 606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6; 606407 HYPOTONIA-CYSTINURA SYNDROME; 606941 ALG9, YEAST, HOMOLOG OF; ALG9; 608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; 609557 PROLYLENDOPEPTIDASE-LIKE; PREPL; 609812 DIABETES AND PANCREATIC EXOCRINE DYSFUNCTION

December 28, 2005
New Entries:: Clinical Synopsis for 609547 MOVED TO 131200
Changed Entries:: 112010 BLOOD GROUP--WALDNER TYPE; WD; 112050 BLOOD GROUP--WRIGHT ANTIGEN; WR; 114240 CALPAIN 3; CAPN3; 117400 MOVED TO 164400 AND 117210; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 123730 CRYSTALLIN, GAMMA-S; CRYGS; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2; 158810 BETHLEM MYOPATHY; 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD; 269000 SC PHOCOMELIA SYNDROME; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 600185 BREAST CANCER 2 GENE; BRCA2; 601550 BLOOD GROUP--SWANN SYSTEM; SW; 601551 BLOOD GROUP--FROESE; 601620 T-BOX 5; TBX5; 602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1; 604219 CATARACT, AUTOSOMAL DOMINANT; 605205 ADENYLYL CYCLASE, SOLUBLE; 607258 HYPERCALCIURIA, ABSORPTIVE, 1; 607343 SAL-LIKE 4; SALL4; 607834 NEUROTICISM; 608685 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 2; SMC1L2; 609353 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 2; ESCO2; Clinical Synopsis for 117400 MOVED TO 164400 AND 117210; Clinical Synopsis for 222300 WOLFRAM SYNDROME

December 27, 2005
Changed Entries:: 102776 ADENOSINE A2 RECEPTOR; ADORA2A; 104311 PRESENILIN 1; PSEN1; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 163890 SYNUCLEIN, ALPHA; SNCA; 176980 PROTEIN KINASE C, GAMMA; PRKCG; 190685 DOWN SYNDROME; 601920 JAGGED 1; JAG1; 602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2; 608224 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 41; DFNA41

December 23, 2005
New Entries:: Clinical Synopsis for 300563 MOVED TO 311070; Clinical Synopsis for 608629 JOUBERT SYNDROME 3; JBTS3; Clinical Synopsis for 609583 JOUBERT SYNDROME 4; JBTS4
Changed Entries:: 110600 ADP-RIBOSYLTRANSFERASE 4; ART4; 111620 RADIN BLOOD GROUP ANTIGEN; RD; 137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD; 165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL; 192430 VELOCARDIOFACIAL SYNDROME; 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL; 300563 MOVED TO 311070; 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; 311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 609017 ERYTHROBLAST MEMBRANE-ASSOCIATED PROTEIN; ERMAP; 609784 UPSTREAM BINDING PROTEIN 1; UBP1; Clinical Synopsis for 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE; Clinical Synopsis for 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; Clinical Synopsis for 609029 EMANUEL SYNDROME

December 22, 2005
New Entries:: 609807 CD300 ANTIGEN-LIKE FAMILY, MEMBER F; CD300LF; 609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS; 609809 LCK-INTERACTING TRANSMEMBRANE ADAPTOR 1; LIME1; 609810 PATERNALLY EXPRESSED GENE 10; PEG10; Clinical Synopsis for 609727 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29
Changed Entries:: 108500 EPISODIC ATAXIA, TYPE 2; EA2; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 160120 EPISODIC ATAXIA, TYPE 1; EA1; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 275400 TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION; 300358 PROTEIN KINASE, LYSINE-DEFICIENT 3; WNK3; 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3; 600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600807 ASTHMA, SUSCEPTIBILITY TO; 601665 OBESITY; 601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4; 602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1; 602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8; 604936 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11; 605238 HISTAMINE N-METHYLTRANSFERASE; HNMT; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609801 CD300 ANTIGEN-LIKE FAMILY, MEMBER E; CD300LE; 609803 FLJ25415 GENE; 609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS; Clinical Synopsis for 126900 DUPUYTREN CONTRACTURE; Clinical Synopsis for 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY; Clinical Synopsis for 264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY; Clinical Synopsis for 601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1

December 21, 2005
New Entries:: 609801 CD300 ANTIGEN-LIKE FAMILY, MEMBER E; CD300LE; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 609803 FLJ25415 GENE; 609804 WD REPEAT-CONTAINING PROTEIN 16; WDR16; 609805 SPERMATOGENESIS-ASSOCIATED PROTEIN 19; SPATA19; Clinical Synopsis for 609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
Changed Entries:: 107269 CD44 ANTIGEN; CD44; 112350 BOWING OF LEGS, ANTERIOR, WITH DWARFISM; 114760 CARBONIC ANHYDRASE IV; CA4; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1; 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 156000 MENIERE DISEASE; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163950 NOONAN SYNDROME 1; NS1; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 168600 PARKINSON DISEASE; PD; 171200 THIOUREA TASTING; 181000 SARCOIDOSIS; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 187380 TENASCIN C; TNC; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 192430 VELOCARDIOFACIAL SYNDROME; 193400 VON WILLEBRAND DISEASE; 209850 AUTISM; 210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 255160 MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE; 259500 OSTEOGENIC SARCOMA; 276400 TWINNING, DIZYGOTIC; 300009 DENT DISEASE 1; 600036 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 1; OTX1; 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2; 600721 D-2-@HYDROXYGLUTARIC ACIDURIA; 600985 TENASCIN XB; TNXB; 601369 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9; 601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,; 601804 TRANSCRIPTION FACTOR Sp3; SP3; 601995 TENASCIN R; TNR; 602910 CLAUDIN 3; CLDN3; 603196 COCHLIN; COCH; 603202 LACTASE; LCT; 603617 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 604832 CARBONIC ANHYDRASE XIV; CA14; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 606786 CD300C ANTIGEN; CD300C; 606790 CD300A ANTIGEN; CD300A; 607103 ARGINYLTRANSFERASE 1; ATE1; 607505 PAS DOMAIN-CONTAINING SERINE/THREONINE KINASE; PASK; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608189 TROPICAL CALCIFIC PANCREATITIS; 608358 MYOPATHY, MYOSIN STORAGE; 608935 LUNG CANCER 1; 609027 INDIAN BLOOD GROUP SYSTEM; IN; 609797 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 2; BICD2; 609798 NEVER IN MITOSIS GENE A-RELATED KINASE 9; NEK9; Clinical Synopsis for 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1; Clinical Synopsis for 600223 SPINOCEREBELLAR ATAXIA 4; SCA4; Clinical Synopsis for 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; Clinical Synopsis for 606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F

December 20, 2005
New Entries:: 609795 NEUROPEPTIDE RF-AMIDE PEPTIDE PRECURSOR
Changed Entries:: 108731 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 1; ATP2B1; 114080 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV; CAMK4; 115501 TYROSINASE-RELATED PROTEIN 1; TYRP1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL; 167870 PANIC DISORDER; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1; 209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL; 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD; 256700 NEUROBLASTOMA; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 272100 SUDANOPHILIC CEREBRAL SCLEROSIS; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 530000 KEARNS-SAYRE SYNDROME; KSS; 600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600245 FIBROMODULIN; FMOD; 600922 MYOSIN LIGHT CHAIN KINASE; MYLK; 601167 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 1; P2RY1; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS; 601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101; 601609 3-@HYDROXYACYL-CoA DEHYDROGENASE; HAD; 601835 CHEMOKINE, CC MOTIF, RECEPTOR 6; CCR6; 602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G; 602229 SRY-BOX 10; SOX10; 602897 MITOGEN-ACTIVATED PROTEIN KINASE 10; MAPK10; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 604312 CYSTATIN 3; CST3; 604378 BECLIN 1; BECN1; 604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5;; 604964 SHP2-INTERACTING TRANSMEMBRANE ADAPTOR PROTEIN 1; SIT1; 605206 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL; 606925 G PROTEIN-COUPLED RECEPTOR 103; GPR103; 606933 TYROSINASE; TYR; 607247 CHONDROLECTIN; CHODL; 607249 CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2; 607343 SAL-LIKE 4; SALL4; 607578 BREATH-HOLDING SPELLS; 607839 GLYCOGEN BRANCHING ENZYME; GBE1; 607853 PANIC DISORDER 2; 608160 SRY-BOX 9; SOX9; 609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME; Clinical Synopsis for 606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

December 19, 2005
Changed Entries:: 107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1; 120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1; 139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 185430 CLUSTERIN; CLU; 209900 BARDET-BIEDL SYNDROME; BBS; 273300 TESTICULAR TUMORS; 300214 PLEXIN B3; PLXNB3; 308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE,; 602947 SUPPRESSOR OF TY 3, S. CEREVISIAE, HOMOLOG OF; SUPT3H; 603924 HYALURONAN-BINDING PROTEIN 2; HABP2; 604293 PLEXIN B2; PLXNB2; 605708 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 11; ARHGEF11; 606187 ALZHEIMER DISEASE, FAMILIAL, 7; 606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2; 607116 ALZHEIMER DISEASE, FAMILIAL, 8; 607968 PARATHYROID HORMONE-RESPONSIVE B1 GENE; 608907 ALZHEIMER DISEASE, 9; 609297 SEMAPHORIN 5A; SEMA5A; 609636 ALZHEIMER DISEASE, FAMILIAL, 10

December 16, 2005
New Entries:: 609798 NEVER IN MITOSIS GENE A-RELATED KINASE 9; NEK9; 609799 NEVER IN MITOSIS GENE A-RELATED KINASE 8; NEK8
Changed Entries:: 117210 SPINOCEREBELLAR ATAXIA 4, PURE, JAPANESE TYPE; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL; 139605 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 1; HES1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163731 NITRIC OXIDE SYNTHASE 1; NOS1; 173510 CD36 ANTIGEN; CD36; 188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 209900 BARDET-BIEDL SYNDROME; BBS; 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 270300 PEELING SKIN SYNDROME; 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP; 300401 PROTEOLIPID PROTEIN 1; PLP1; 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED; 308840 L1 CELL ADHESION MOLECULE; L1CAM; 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX; 600151 MOVED TO 209900; 601659 ES1, ZEBRAFISH, HOMOLOG OF; ES1; 606101 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 3; EMR3; 606221 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 3; ZNFN1A3; 606621 ESTROGEN-RELATED RECEPTOR-BETA-LIKE 1; ESRRBL1; 606776 TRANSGLUTAMINASE 7; TGM7; 606792 HISTAMINE RECEPTOR H4; HRH4; 608677 MINDBOMB, DROSOPHILA, HOMOLOG OF, 1; MIB1; 608845 ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6; 608922 ARL2-LIKE PROTEIN 1; ARL2L1; 609048 MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3; 609446 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD; 609797 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 2; BICD2; 609798 NEVER IN MITOSIS GENE A-RELATED KINASE 9; NEK9; 609799 NEVER IN MITOSIS GENE A-RELATED KINASE 8; NEK8

December 15, 2005
New Entries:: 609791 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6A; LRRN6A; 609792 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6B; LRRN6B; 609793 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6C; LRRN6C; 609794 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6D; LRRN6D; 609796 PEELING SKIN SYNDROME, ACRAL TYPE; 609797 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 2; BICD2
Changed Entries:: 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 270300 PEELING SKIN SYNDROME; 600514 REELIN; RELN; 600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1; 602204 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 1; BICD1; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603448 DISABLED, DROSOPHILA, HOMOLOG OF, 1; DAB1; 603805 TRANSGLUTAMINASE 5; TGM5; 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B; 604472 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B; 605206 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL; 605492 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 5; LRRN5; 607448 G PROTEIN-COUPLED RECEPTOR 147; GPR147; 609792 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6B; LRRN6B; 609793 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6C; LRRN6C

December 14, 2005
New Entries:: 609788 X-RAY RADIATION RESISTANCE-ASSOCIATED 1; XRRA1
Changed Entries:: 120900 COMPLEMENT COMPONENT 5; C5; 124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2; 155760 AGGRECAN 1; AGC1; 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 190000 TRANSFERRIN; TF; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 246300 LEPROSY, SUSCEPTIBILITY TO; 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; 267430 RENAL TUBULAR DYSGENESIS; RTD; 277440 VITAMIN D-DEPENDENT RICKETS, TYPE II; 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12; 602897 MITOGEN-ACTIVATED PROTEIN KINASE 10; MAPK10; 603924 HYALURONAN-BINDING PROTEIN 2; HABP2; 604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5;; 605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13; 609165 RETICULAR ERYTHROKERATODERMA; 609788 X-RAY RADIATION RESISTANCE-ASSOCIATED 1; XRRA1

December 13, 2005
New Entries:: 609779 NEVER IN MITOSIS GENE A-RELATED KINASE 11; NEK11; 609780 CARBOXYPEPTIDASE, VITELLOGENIC-LIKE; CPVL; 609781 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1; 609782 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 2; 609783 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 5; ITIH5; 609784 UPSTREAM BINDING PROTEIN 1; UBP1; 609785 TRANSCRIPTION FACTOR CP2-LIKE 1; TFCP2L1; 609786 GRAINYHEAD-LIKE 1; GRHL1; 609787 UBIQUITIN-ASSOCIATED PROTEIN 1; UBAP1
Changed Entries:: 100070 AORTIC ANEURYSM, ABDOMINAL; 115501 TYROSINASE-RELATED PROTEIN 1; TYRP1; 118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 133020 ERYTHERMALGIA, PRIMARY; 167409 PAIRED BOX GENE 2; PAX2; 173360 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1; 176267 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 181500 SCHIZOPHRENIA; SCZD; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1; 189889 TRANSCRIPTION FACTOR CP2; TFCP2; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 213002 CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS; 227650 FANCONI ANEMIA; FA; 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600245 FIBROMODULIN; FMOD; 601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABSD; 602180 SIGNAL-INDUCED PROLIFERATION-ASSOCIATED GENE 1; SIPA1; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4; 603767 KALLIKREIN 4; KLK4; 604043 NEVER IN MITOSIS GENE A-RELATED KINASE 2; NEK2; 604092 TTK PROTEIN KINASE; TTK; 604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT; 606933 TYROSINASE; TYR; 608317 GRAINYHEAD-LIKE 3; GRHL3; 608576 GRAINYHEAD-LIKE 2; GRHL2; 608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2; 608973 SNF1-LIKE KINASE 2; SNF1LK2; 609148 MALARIA, MILD, SUSCEPTIBILITY TO; 609162 CZECH DYSPLASIA, METATARSAL TYPE; 609635 TRANSCRIPTION FACTOR 23; TCF23; 609780 CARBOXYPEPTIDASE, VITELLOGENIC-LIKE; CPVL; 609787 UBIQUITIN-ASSOCIATED PROTEIN 1; UBAP1

December 12, 2005
New Entries:: 609734 PROOPIOMELANOCORTIN DEFICIENCY; 609773 CREBBP/EP300 INHIBITORY PROTEIN 2; CRI2; 609774 APOPTOSIS INHIBITOR 5; API5; 609775 YIP1 DOMAIN FAMILY, MEMBER 3; YIPF3; 609776 PROLINE-RICH ACIDIC PROTEIN 1; PRAP1; 609777 CARDIOMYOPATHY-ASSOCIATED PROTEIN 1; CMYA1; 609778 CARDIOMYOPATHY-ASSOCIATED PROTEIN 3; CMYA3
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 176640 PRION PROTEIN; PRNP; 176830 PROOPIOMELANOCORTIN; POMC; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 181500 SCHIZOPHRENIA; SCZD; 188370 THYMOCYTE ANTIGEN CD1A; CD1A; 209850 AUTISM; 260400 SHWACHMAN-DIAMOND SYNDROME; SDS; 269600 SEA-BLUE HISTIOCYTE DISEASE; 600511 SCHIZOPHRENIA 3; SCZD3; 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST; 601665 OBESITY; 602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE,; 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;; 604480 SIRTUIN 2; SIRT2; 607444 SBDS GENE; SBDS; 609773 CREBBP/EP300 INHIBITORY PROTEIN 2; CRI2; 609777 CARDIOMYOPATHY-ASSOCIATED PROTEIN 1; CMYA1; Clinical Synopsis for 101200 APERT SYNDROME; Clinical Synopsis for 119500 POPLITEAL PTERYGIUM SYNDROME; PPS; Clinical Synopsis for 122470 CORNELIA DE LANGE SYNDROME; CDLS; Clinical Synopsis for 133540 COCKAYNE SYNDROME, TYPE B; CSB; Clinical Synopsis for 137357 GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD; Clinical Synopsis for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS; Clinical Synopsis for 147920 KABUKI SYNDROME; Clinical Synopsis for 150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1; Clinical Synopsis for 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; Clinical Synopsis for 176270 PRADER-WILLI SYNDROME; PWS; Clinical Synopsis for 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; Clinical Synopsis for 194072 WAGR SYNDROME; Clinical Synopsis for 210900 BLOOM SYNDROME; BLM; Clinical Synopsis for 214100 ZELLWEGER SYNDROME; ZS; Clinical Synopsis for 214800 CHARGE SYNDROME; Clinical Synopsis for 224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH; Clinical Synopsis for 225500 ELLIS-VAN CREVELD SYNDROME; EVC; Clinical Synopsis for 229850 FRYNS SYNDROME; FRNS; Clinical Synopsis for 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS; Clinical Synopsis for 249000 MECKEL SYNDROME, TYPE 1; MKS1; Clinical Synopsis for 268400 ROTHMUND-THOMSON SYNDROME; RTS; Clinical Synopsis for 300000 OPITZ SYNDROME; Clinical Synopsis for 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC; Clinical Synopsis for 305400 FACIOGENITAL DYSPLASIA; Clinical Synopsis for 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; Clinical Synopsis for 600118 WARBURG MICRO SYNDROME 1; WARBM1; Clinical Synopsis for 606851 CREE MENTAL RETARDATION SYNDROME

December 11, 2005
New Entries:: 300567 PHOSPHOGLYCERATE MUTASE FAMILY 3; 609769 ORPHAN SHORT-CHAIN DEHYDROGENASE/REDUCTASE; 609770 ADHESION MOLECULE, INTERACTS WITH CXADR ANTIGEN 1; AMICA1; 609771 UBINUCLEIN 1; UBN1; 609772 CORTACTIN-BINDING PROTEIN 2; CTTNBP2
Changed Entries:: 600463 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A3; ALDH1A3; 602621 COXSACKIEVIRUS AND ADENOVIRUS RECEPTOR; CXADR; 609769 ORPHAN SHORT-CHAIN DEHYDROGENASE/REDUCTASE

December 9, 2005
New Entries:: 609761 TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP; 609762 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOC1S3; 609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A; 609765 JUMONJI DOMAIN-CONTAINING PROTEIN 2B; JMJD2B; 609766 JUMONJI DOMAIN-CONTAINING PROTEIN 2D; JMJD2D; 609767 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 28; SLC25A28; 609768 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 2; BLOC1S2; Clinical Synopsis for 300534 MENTAL RETARDATION, X-LINKED, JARID1C-RELATED; Clinical Synopsis for 300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD; Clinical Synopsis for 602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS; Clinical Synopsis for 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; Clinical Synopsis for 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY,; Clinical Synopsis for 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2; Clinical Synopsis for 609446 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD; Clinical Synopsis for 609456 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE
Changed Entries:: 115470 CAT EYE SYNDROME; CES; 115500 CATALASE; CAT; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 137161 GAMMA-AMINOBUTYRIC ACID RECEPTOR, RHO-1; GABRR1; 137162 GAMMA-AMINOBUTYRIC ACID RECEPTOR, RHO-2; GABRR2; 148300 KERATOCONUS 1; KTCN1; 165500 OPTIC ATROPHY 1; OPA1; 180200 RETINOBLASTOMA; RB1; 203300 HERMANSKY-PUDLAK SYNDROME; HPS; 217800 MACULAR DYSTROPHY, CORNEAL, 1; MCDC1; 305370 TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; 600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1; 601253 CAVEOLIN 3; CAV3; 601444 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 1; BLOC1S1; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603308 CATHEPSIN L2; CTSL2; 603540 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1; 605290 OPA1 GENE; OPA1; 605294 CARBOHYDRATE SULFOTRANSFERASE 6; CHST6; 605469 JUMONJI DOMAIN-CONTAINING PROTEIN 2C; JMJD2C; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607007 SNARE-ASSOCIATED PROTEIN SNAPIN; SNAPAP; 607340 G PROTEIN-COUPLED RECEPTOR 51; GPR51; 608512 NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1; Clinical Synopsis for 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; Clinical Synopsis for 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; Clinical Synopsis for 277580 WAARDENBURG-SHAH SYNDROME; Clinical Synopsis for 300534 MENTAL RETARDATION, X-LINKED, JARID1C-RELATED; Clinical Synopsis for 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL; Clinical Synopsis for 600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA; Clinical Synopsis for 607346 SPINOCEREBELLAR ATAXIA 19; SCA19; Clinical Synopsis for 607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; Clinical Synopsis for 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY,

December 8, 2005
New Entries:: 609751 ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1; 609759 PR DOMAIN-CONTAINING PROTEIN 7; PRDM7; 609760 PR DOMAIN-CONTAINING PROTEIN 9; PRDM9; 609763 PHOSPHATIDYLINOSITOL 4-KINASE, TYPE II; Clinical Synopsis for 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
Changed Entries:: 126900 DUPUYTREN CONTRACTURE; 164160 LEPTIN; LEP; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY; 264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY; 300257 DANON DISEASE; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600286 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, ALPHA; PIK4CA; 600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH; 600696 ENOYL-CoA HYDRATASE, PEROXISOMAL; ECH1; 601196 PR DOMAIN-CONTAINING PROTEIN 2; PRDM2; 601539 PEROXISOME BIOGENESIS DISORDERS; PBD; 601641 ACYL-CoA OXIDASE 2, BRANCHED-CHAIN; ACOX2; 601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4; 602758 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, BETA; PIK4CB; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC; 606708 SPLIT-HAND/FOOT MALFORMATION 5; Clinical Synopsis for 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL; Clinical Synopsis for 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED; Clinical Synopsis for 605361 SPINOCEREBELLAR ATAXIA 14; SCA14

December 7, 2005
New Entries:: 609756 CHRNA7/FAM7A FUSION GENE; CHRFAM7A; 609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME; 609758 T-CELL LYMPHOMA BREAKPOINT-ASSOCIATED TARGET 1; TCBA1; Clinical Synopsis for 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM; Clinical Synopsis for 300257 DANON DISEASE; Clinical Synopsis for 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2; Clinical Synopsis for 609049 MICROCORIA-CONGENITAL NEPHROSIS SYNDROME; Clinical Synopsis for 609500 MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
Changed Entries:: 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1; 106150 ANGIOTENSIN I; AGT; 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7; 118700 CHOREA, BENIGN HEREDITARY; BHC; 118750 CHOREOATHETOSIS, FAMILIAL INVERTED; 137800 GLIOMA OF BRAIN, FAMILIAL; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 147780 INTERLEUKIN 4; IL4; 159440 MYELIN PROTEIN ZERO; MPZ; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 184755 STEROL CARRIER PROTEIN 2; SCP2; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 215450 CHOREA, BENIGN FAMILIAL; 300100 ADRENOLEUKODYSTROPHY; ALD; 300207 G PROTEIN-COUPLED RECEPTOR 50; GPR50; 300412 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2; 309200 MAJOR AFFECTIVE DISORDER 2; MAFD2; 309800 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES; MAA; 600514 REELIN; RELN; 600576 GATA-BINDING PROTEIN 4; GATA4; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B; 600807 ASTHMA, SUSCEPTIBILITY TO; 602071 BROAD TERMINAL PHALANGES, FAMILIAL; 602129 MYOSIN IXB; MYO9B; 603448 DISABLED, DROSOPHILA, HOMOLOG OF, 1; DAB1; 604054 ACETYL-CoA ACYLTRANSFERASE 1; ACAA1; 604140 DEATH INDUCER-OBLITERATOR 1; DIDO1; 605003 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 6; SENP6; 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12; 607444 SBDS GENE; SBDS; 609402 PREECLAMPSIA/ECLAMPSIA 2; PEE2; 609727 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29; 609756 CHRNA7/FAM7A FUSION GENE; CHRFAM7A; 609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME; Clinical Synopsis for 127750 DEMENTIA, LEWY BODY; DLB; Clinical Synopsis for 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; Clinical Synopsis for 254780 MYOCLONIC EPILEPSY OF LAFORA; Clinical Synopsis for 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET; Clinical Synopsis for 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX; Clinical Synopsis for 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9; Clinical Synopsis for 606002 SPINOCEREBELLAR ATAXIA, RECESSIVE, NON-FRIEDREICH TYPE 1; Clinical Synopsis for 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; Clinical Synopsis for 607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO; Clinical Synopsis for 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K; Clinical Synopsis for 609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE

December 6, 2005
New Entries:: 609727 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29
Changed Entries:: 103780 ALCOHOLISM; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1; 136533 FORKHEAD BOX O1A; FOXO1A; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 168461 CYCLIN D1; CCND1; 181500 SCHIZOPHRENIA; SCZD; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 207410 ANTLEY-BIXLER SYNDROME; ABS; 209900 BARDET-BIEDL SYNDROME; BBS; 243800 JOHANSON-BLIZZARD SYNDROME; JBS; 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; 300188 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE,; 300408 GRIP1-ASSOCIATED PROTEIN 1; GRIPAP1; 300500 ALBINISM, OCULAR, TYPE I; OA1; 312170 PYRUVATE DECARBOXYLASE DEFICIENCY; 600244 PROGRAMMED CELL DEATH 1; PDCD1; 600533 VANG-LIKE 2; VANGL2; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 600721 D-2-@HYDROXYGLUTARIC ACIDURIA; 602681 FORKHEAD BOX O3A; FOXO3A; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1; 606581 POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607136 SPINOCEREBELLAR ATAXIA 17; SCA17; 608046 SYNOVIAL APOPTOSIS INHIBITOR 1; SYVN1; 608160 SRY-BOX 9; SOX9; 608413 E3 UBIQUITIN PROTEIN LIGASE, HECT DOMAIN-CONTAINING, 1; EDD1; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608770 DIHYDROLIPOAMIDE S-ACETYLTRANSFERASE; DLAT; 609186 D-2-@HYDROXYGLUTARATE DEHYDROGENASE; 609672 SEC15-LIKE 1; SEC15L1; Clinical Synopsis for 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME; Clinical Synopsis for 113000 BRACHYDACTYLY, TYPE B1; BDB1; Clinical Synopsis for 140000 HAND-FOOT-UTERUS SYNDROME; Clinical Synopsis for 154705 MARFAN SYNDROME, TYPE II; MFS2; Clinical Synopsis for 243800 JOHANSON-BLIZZARD SYNDROME; JBS; Clinical Synopsis for 271700 SPONDYLOPERIPHERAL DYSPLASIA; Clinical Synopsis for 601884 BONE MINERAL DENSITY VARIATION 1; BMND1

December 5, 2005
New Entries:: 609753 CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4; 609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2; 609755 CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3; Clinical Synopsis for 606673 BETA-UREIDOPROPIONASE; UPB1
Changed Entries:: 102300 RESTLESS LEGS SYNDROME 1; 104300 ALZHEIMER DISEASE; AD; 105150 AMYLOIDOSIS VI; 114500 COLORECTAL CANCER; CRC; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 131222 ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED; ECGF1; 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF; 160740 MYOSIN, HEAVY CHAIN 2, SKELETAL MUSCLE, ADULT; MYH2; 212750 CELIAC DISEASE; CD; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3; 253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2; 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD; 270200 SJOGREN-LARSSON SYNDROME; SLS; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 516060 ATP SYNTHASE 6; MTATP6; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600716 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 602129 MYOSIN IXB; MYO9B; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 603495 AURORA KINASE C; AURKC; 604312 CYSTATIN 3; CST3; 605901 UROCORTIN III; UCN3; 605902 UROCORTIN II; UCN2; 607116 ALZHEIMER DISEASE 8; 607834 NEUROTICISM; 608516 MAJOR DEPRESSIVE DISORDER; MDD; Clinical Synopsis for 100800 ACHONDROPLASIA; ACH; Clinical Synopsis for 131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1; Clinical Synopsis for 158810 BETHLEM MYOPATHY; Clinical Synopsis for 200150 CHOREOACANTHOCYTOSIS; CHAC; Clinical Synopsis for 600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6; Clinical Synopsis for 606159 BASAL GANGLIA DISEASE, ADULT-ONSET

December 2, 2005
New Entries:: 609749 UDP-GLUCURONATE DECARBOXYLASE 1; UXS1; 609750 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4; EIG4; 609752 NUCLEAR RECEPTOR COACTIVATOR 7; NCOA7
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1; 109580 B-CELL TRANSLOCATION GENE 1; BTG1; 114220 CALPAIN 1; CAPN1; 114230 CALPAIN 2; CAPN2; 117400 MOVED TO 164400 AND 117210; 136533 FORKHEAD BOX O1A; FOXO1A; 163905 HIGH MOBILITY GROUP BOX 1; HMGB1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 176830 PROOPIOMELANOCORTIN; POMC; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 602403 BLEOMYCIN HYDROLASE; BLMH; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 603827 BCL2-LIKE 11; BCL2L11; 604170 PHOSPHOLIPID SCRAMBLASE 1; PLSCR1; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1; 604370 OVARIAN CANCER, EPITHELIAL; 605668 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 2; BACE2; 606970 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1; EIG1; 606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2; EIG2; 608762 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3; 609750 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4; EIG4; 609752 NUCLEAR RECEPTOR COACTIVATOR 7; NCOA7

December 1, 2005
New Entries:: 609747 STRIATED MUSCLE ACTIVATOR OF RHO SIGNALING; 609748 UBIQUITIN-LIKE 7; UBL7
Changed Entries:: 140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1; 151570 LEUKOTRIENE A4 HYDROLASE; LTA4H; 239100 HYPEROSTOSIS CORTICALIS GENERALISATA; 248800 MARINESCO-SJOGREN SYNDROME; MSS; 275000 GRAVES DISEASE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300186 EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, X-LINKED; EIF1AX; 312750 RETT SYNDROME; RTT; 400014 EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, Y-LINKED; EIF1AY; 400022 PROTOCADHERIN 11, Y-LINKED; PCDH11Y; 600696 ENOYL-CoA HYDRATASE, PEROXISOMAL; ECH1; 601524 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME; BACE; 604743 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 1; DDAH1; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC; 605740 SCLEROSTIN; SOST; 606078 MEGAKARYOBLASTIC LEUKEMIA 1 GENE; MKL1; 608005 SIL1, S. CEREVISIAE, HOMOLOG OF; SIL1; 608382 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 3; DNAJA3; 608793 SPECTRIN AND COILED-COIL DOMAINS PROTEIN 1; SPECC1; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 609747 STRIATED MUSCLE ACTIVATOR OF RHO SIGNALING; 609748 UBIQUITIN-LIKE 7; UBL7

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OMIM Update List for December, 2005

December 30, 2005

December 29, 2005

December 28, 2005

December 27, 2005

December 23, 2005

December 22, 2005

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December 20, 2005

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December 16, 2005

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December 14, 2005

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December 2, 2005

December 1, 2005