OMIM Update List for February, 2008

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Nucleotide

Protein

Genome

OMIM Update List for February, 2008

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February 29, 2008
New Entries:: 611869 RAB GTPase-BINDING EFFECTOR PROTEIN 2; RABEP2; 611870 CENTLEIN; CNTLN
Changed Entries:: 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8; 123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 163890 SYNUCLEIN, ALPHA; SNCA; 179513 RAS-ASSOCIATED PROTEIN RAB6A; RAB6A; 193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD; 264800 PSEUDOXANTHOMA ELASTICUM; PXE; 300276 ECTODYSPLASIN A2 RECEPTOR; EDA2R; 300698 TRANSMEMBRANE PROTEIN 47; TMEM47; 601090 FORKHEAD BOX C1; FOXC1; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601965 ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3; 601974 ENDOTHELIAL DIFFERENTIATION GENE 1; EDG1; 602282 ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603313 ALG10, S. CEREVISIAE, HOMOLOG OF; ALG10; 603616 RAB GTPase-BINDING EFFECTOR PROTEIN 1; RABEP1; 603751 ENDOTHELIAL DIFFERENTIATION GENE 6; EDG6; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 605106 ENDOTHELIAL DIFFERENTIATION GENE 7; EDG7; 605110 ENDOTHELIAL DIFFERENTIATION GENE 4; EDG4; 605111 ENDOTHELIAL DIFFERENTIATION GENE 5; EDG5; 605146 ENDOTHELIAL DIFFERENTIATION GENE 8; EDG8; 605890 EH DOMAIN-CONTAINING 2; EHD2; 608125 XYLOSYLTRANSFERASE 2; XYLT2; 608160 SRY-BOX 9; SOX9; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 610032 TRANSPORTIN 3; TNPO3; 610311 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 28, S. CEREVISIAE,; 611160 KERATIN 6-LIKE; KRT6L; 611161 KERATIN 80; KRT80; 611823 MITOCHONDRIAL RIBOSOMAL PROTEIN L4; MRPL4; 611831 MITOCHONDRIAL RIBOSOMAL PROTEIN L18; MRPL18; 611832 MITOCHONDRIAL RIBOSOMAL PROTEIN L19; MRPL19; 611833 MITOCHONDRIAL RIBOSOMAL PROTEIN L20; MRPL20; 611835 MITOCHONDRIAL RIBOSOMAL PROTEIN L22; MRPL22; 611836 MITOCHONDRIAL RIBOSOMAL PROTEIN L24; MRPL24; 611837 MITOCHONDRIAL RIBOSOMAL PROTEIN L27; MRPL27; 611838 MITOCHONDRIAL RIBOSOMAL PROTEIN L30; MRPL30; 611839 MITOCHONDRIAL RIBOSOMAL PROTEIN L32; MRPL32; 611864 ARMADILLO REPEAT-CONTAINING 10; ARMC10; 611865 L3MBT-LIKE 2; L3MBTL2; 611866 RETINOL-BINDING PROTEIN 5; RBP5; 611867 CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL

February 28, 2008
New Entries:: 611865 L3MBT-LIKE 2; L3MBTL2; 611866 RETINOL-BINDING PROTEIN 5; RBP5; 611867 CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL
Changed Entries:: 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 139320 GNAS COMPLEX LOCUS; GNAS; 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 176797 ZINC FINGER PROTEIN 145; ZNF145; 178110 MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT; 180230 RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE I; CRABP1; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 188400 DIGEORGE SYNDROME; DGS; 191170 TUMOR PROTEIN p53; TP53; 192430 VELOCARDIOFACIAL SYNDROME; 219090 PITUITARY ADENOMA, ACTH-SECRETING; 300276 ECTODYSPLASIN A2 RECEPTOR; EDA2R; 300377 DYSTROPHIN; DMD; 300698 TRANSMEMBRANE PROTEIN 47; TMEM47; 312150 MULTIPLE PTERYGIUM SYNDROME, X-LINKED; 600007 FMS-RELATED TYROSINE KINASE 3 LIGAND; FLT3LG; 600634 PITUITARY ADENOMA, PROLACTIN-SECRETING; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 602167 ESTROGEN-RELATED RECEPTOR, BETA; ESRRB; 603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE; 604095 ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR; EDAR; 605235 NUCLEOLAR PROTEIN 3; NOL3; 605555 ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; AIP; 606158 BSCL2 GENE; BSCL2; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 607212 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9; CARD9; 608537 VHL GENE; VHL; 608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35; 608604 RETINOL-BINDING PROTEIN 7; RBP7; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 610252 MICRO RNA 1-2; MIRN1-2; 610254 MICRO RNA 133A1; MIRN133A1; 611835 MITOCHONDRIAL RIBOSOMAL PROTEIN L22; MRPL22; Clinical Synopsis for 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; Clinical Synopsis for 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;

February 27, 2008
New Entries:: 300698 TRANSMEMBRANE PROTEIN 47; TMEM47; 611831 MITOCHONDRIAL RIBOSOMAL PROTEIN L18; MRPL18; 611832 MITOCHONDRIAL RIBOSOMAL PROTEIN L19; MRPL19; 611833 MITOCHONDRIAL RIBOSOMAL PROTEIN L20; MRPL20; 611834 MITOCHONDRIAL RIBOSOMAL PROTEIN L21; MRPL21; 611835 MITOCHONDRIAL RIBOSOMAL PROTEIN L22; MRPL22; 611836 MITOCHONDRIAL RIBOSOMAL PROTEIN L24; MRPL24; 611837 MITOCHONDRIAL RIBOSOMAL PROTEIN L27; MRPL27; 611838 MITOCHONDRIAL RIBOSOMAL PROTEIN L30; MRPL30; 611839 MITOCHONDRIAL RIBOSOMAL PROTEIN L32; MRPL32; 611864 ARMADILLO REPEAT-CONTAINING 10; ARMC10; Clinical Synopsis for 611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH
Changed Entries:: 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS; 134370 COMPLEMENT FACTOR H; CFH; 142711 HISTONE 1, H1B; HIST1H1B; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 156225 LAMININ, ALPHA-2; LAMA2; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 191170 TUMOR PROTEIN p53; TP53; 193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD; 210600 SECKEL SYNDROME 1; 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; 210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III; 300697 HECT, UBA, AND WWE DOMAINS-CONTAINING PROTEIN 1; HUWE1; 301830 SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 314370 UBIQUITIN-ACTIVATING ENZYME 1; UBE1; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600565 NEUREXIN 1; NRXN1; 600566 NEUREXIN 2; NRXN2; 600567 NEUREXIN 3; NRXN3; 600746 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 1; CDX1; 601743 ONCOSTATIN M RECEPTOR; OSMR; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602294 FORKHEAD BOX A1; FOXA1; 602681 FORKHEAD BOX O3A; FOXO3A; 603208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13; KCNJ13; 604001 A-KINASE ANCHOR PROTEIN 9; AKAP9; 605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4; 605925 PERICENTRIN 2; PCNT2; 606127 MYOCARDIN; MYOCD; 606857 GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC; 607646 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7B; ZBTB7B; 608256 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, BETA SUBUNIT; SCN4B; 608764 PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1; 609086 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 20; FBXL20; 609114 DESTRIN; DSTN; 609144 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR; 611054 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING; 611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH; 611817 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY K, MEMBER 1; KLRK1; 611818 LONG QT SYNDROME 9; LQT9; 611819 LONG QT SYNDROME 10; LQT10; 611820 LONG QT SYNDROME 11; LQT11; 611821 MITOCHONDRIAL RIBOSOMAL PROTEIN L1; MRPL1; 611822 MITOCHONDRIAL RIBOSOMAL PROTEIN L2; MRPL2; 611823 MITOCHONDRIAL RIBOSOMAL PROTEIN L4; MRPL4; 611824 MITOCHONDRIAL RIBOSOMAL PROTEIN L9; MRPL9; 611825 MITOCHONDRIAL RIBOSOMAL PROTEIN L10; MRPL10; 611826 MITOCHONDRIAL RIBOSOMAL PROTEIN L11; MRPL11; 611827 MITOCHONDRIAL RIBOSOMAL PROTEIN L14; MRPL14; 611828 MITOCHONDRIAL RIBOSOMAL PROTEIN L15; MRPL15; 611829 MITOCHONDRIAL RIBOSOMAL PROTEIN L16; MRPL16; 611830 MITOCHONDRIAL RIBOSOMAL PROTEIN L17; MRPL17; 611860 SECKEL SYNDROME 4; SCKL4; 611861 ADP-DEPENDENT GLUCOKINASE; ADPGK; 611862 WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1; 611863 MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA; Clinical Synopsis for 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II

February 26, 2008
New Entries:: 300697 HECT, UBA, AND WWE DOMAINS-CONTAINING PROTEIN 1; HUWE1; 611818 LONG QT SYNDROME 9; LQT9; 611819 LONG QT SYNDROME 10; LQT10; 611820 LONG QT SYNDROME 11; LQT11; 611821 MITOCHONDRIAL RIBOSOMAL PROTEIN L1; MRPL1; 611822 MITOCHONDRIAL RIBOSOMAL PROTEIN L2; MRPL2; 611823 MITOCHONDRIAL RIBOSOMAL PROTEIN L4; MRPL4; 611824 MITOCHONDRIAL RIBOSOMAL PROTEIN L9; MRPL9; 611825 MITOCHONDRIAL RIBOSOMAL PROTEIN L10; MRPL10; 611826 MITOCHONDRIAL RIBOSOMAL PROTEIN L11; MRPL11; 611827 MITOCHONDRIAL RIBOSOMAL PROTEIN L14; MRPL14; 611828 MITOCHONDRIAL RIBOSOMAL PROTEIN L15; MRPL15; 611829 MITOCHONDRIAL RIBOSOMAL PROTEIN L16; MRPL16; 611830 MITOCHONDRIAL RIBOSOMAL PROTEIN L17; MRPL17; 611860 SECKEL SYNDROME 4; SCKL4; 611861 ADP-DEPENDENT GLUCOKINASE; ADPGK; 611862 WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1; 611863 MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA
Changed Entries:: 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 116810 CATHEPSIN B; CTSB; 137061 MOVED TO 137060; 150600 LEGG-CALVE-PERTHES DISEASE; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 162700 NEUTROPENIA, CHRONIC FAMILIAL; 168600 PARKINSON DISEASE; PD; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG; 181400 SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; 181430 SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM; 184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; 188840 TITIN; TTN; 192500 LONG QT SYNDROME 1; LQT1; 210600 SECKEL SYNDROME 1; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; 272120 SUDDEN INFANT DEATH SYNDROME; 300652 ANGIOMA SERPIGINOSUM, X-LINKED; 300683 SEPTIN 6; SEPT6; 300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; 300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE; 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2; 601005 TIMOTHY SYNDROME; TS; 601253 CAVEOLIN 3; CAV3; 602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3; 603202 LACTASE; LCT; 603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF; 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;; 603830 LONG QT SYNDROME 3; LQT3; 604001 A-KINASE ANCHOR PROTEIN 9; AKAP9; 604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G; 605925 PERICENTRIN 2; PCNT2; 605958 TRAF-INTERACTING PROTEIN; TRAIP; 606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1; 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 608256 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, BETA SUBUNIT; SCN4B; 608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J; 609521 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 1; SLC30A1; 609617 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 2; SLC30A2; 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8; 611142 CYTOSKELETON-ASSOCIATED PROTEIN 5; CKAP5; 611143 COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98; 611144 ABRAXAS BROTHER 1; 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8; 611146 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 10; SLC30A10; 611148 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 6; SLC30A6; 611149 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 7; SLC30A7; 611151 HPAII TINY FRAGMENTS LOCUS 9C; 611156 KIAA1815; 611157 CHROMOSOME 20 OPEN READING FRAME 20; C20ORF20; 611158 KERATIN 77; KRT77; 611159 KERATIN 78; KRT78; 611432 DEDICATOR OF CYTOKINESIS 8; DOCK8; 611500 MICRO RNA 219-1; MIRN219-1; 611560 JOUBERT SYNDROME 7; JBTS7; 611562 SEPTIN 12; SEPT12; 611563 SEPTIN 13; SEPT13; 611567 MACRO DOMAIN-CONTAINING 2; MACROD2; 611589 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING 5; PNPLA5; 611591 PRO-PLATELET BASIC PROTEIN-LIKE 2; PPBPL2; 611592 PHENYLALANYL-tRNA SYNTHETASE 2, MITOCHONDRIAL; FARS2; 611593 SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 3, MOUSE, HOMOLOG OF,; 611594 UBIQUITIN-SPECIFIC PROTEASE 39; USP39; 611595 THIOREDOXIN-LIKE 4A; TXNL4A; 611596 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4; DHRS4; 611597 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1; 611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6; 611599 MICRO RNA 206; MIRN206; 611600 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 3; RIMS3; 611601 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 4; RIMS4; 611602 RIMS-BINDING PROTEIN 2; RIMBP2; 611604 ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 1; ERLIN1; 611605 ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 2; ERLIN2; 611606 MICRO RNA 96; MIRN96; 611607 MICRO RNA 182; MIRN182; 611608 MICRO RNA 183; MIRN183; 611609 SIPA1-LIKE PROTEIN 2; SIPA1L2; 611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY; 611802 CHROMOSOME 17 OPEN READING FRAME 37; C17ORF37; 611803 INTEGRIN-ALPHA FG-GAP REPEAT-CONTAINING PROTEIN 1; ITFG1; 611804 ELLIPTOCYTOSIS 1; EL1; 611805 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 5; ELOVL5; 611806 ARSENIC (+3 OXIDATION STATE) METHYLTRANSFERASE; AS3MT; 611807 TIP41-LIKE PROTEIN; TIPRL; 611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB; 611810 USH1C-BINDING PROTEIN 1; USHBP1; 611811 ZINC FINGER PROTEIN 333; ZNF333; 611812 SEX REVERSAL, FEMALE, WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS;; 611813 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 1; ELOVL1; 611814 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 2; ELOVL2; 611815 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 3; ELOVL3; 611860 SECKEL SYNDROME 4; SCKL4; 611863 MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA; Clinical Synopsis for 101900 ACROKERATOSIS VERRUCIFORMIS; AKV; Clinical Synopsis for 123700 CUTIS LAXA, AUTOSOMAL DOMINANT; Clinical Synopsis for 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; Clinical Synopsis for 219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I; Clinical Synopsis for 251450 DESBUQUOIS SYNDROME; DBQD

February 25, 2008
New Entries:: 611817 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY K, MEMBER 1; KLRK1
Changed Entries:: 104310 ALZHEIMER DISEASE 2; 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS; 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 107650 APNEA, OBSTRUCTIVE SLEEP; 107741 APOLIPOPROTEIN E; APOE; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 223100 LACTASE PERSISTENCE; 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG; 300265 ZINC FINGER PROTEIN OF CEREBELLUM, 3; ZIC3; 306955 HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1; 601265 NODAL, MOUSE, HOMOLOG OF; NODAL; 601743 ONCOSTATIN M RECEPTOR; OSMR; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4; 611814 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 2; ELOVL2; 611815 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 3; ELOVL3; 611817 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY K, MEMBER 1; KLRK1; Clinical Synopsis for 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED

February 24, 2008
Changed Entries:: 103800 MOVED TO 253200 AND 258870; 177150 MOVED TO 177170; 229900 MOVED TO 258870; 264150 MOVED TO 177170; Clinical Synopsis for 103800 MOVED TO 253200 AND 258870; Clinical Synopsis for 177150 MOVED TO 177170; Clinical Synopsis for 229900 MOVED TO 258870; Clinical Synopsis for 264150 MOVED TO 177170

February 22, 2008
New Entries:: 611806 ARSENIC (+3 OXIDATION STATE) METHYLTRANSFERASE; AS3MT; 611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB; 611810 USH1C-BINDING PROTEIN 1; USHBP1; 611811 ZINC FINGER PROTEIN 333; ZNF333; 611812 SEX REVERSAL, FEMALE, WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS;; 611813 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 1; ELOVL1; 611814 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 2; ELOVL2; 611815 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 3; ELOVL3
Changed Entries:: 125660 DESMIN; DES; 181400 SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG; 601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1; 603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4; 606264 C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A; 607854 BESTROPHIN 1; BEST1; 608764 PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1; 611346 INTEGRATOR COMPLEX SUBUNIT 2; INTS2; 611776 HORMONE-REGULATED PROLIFERATION-ASSOCIATED PROTEIN, 20-KD; 611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB

February 21, 2008
New Entries:: 300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; 300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA; 611805 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 5; ELOVL5; 611807 TIP41-LIKE PROTEIN; TIPRL; Clinical Synopsis for 602588 BRANCHIOOTIC SYNDROME 1; BOS1
Changed Entries:: 114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1; 114206 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D; 130600 ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 161561 INTERLEUKIN 12B; IL12B; 166900 OVALOCYTOSIS, HEREDITARY HEMOLYTIC; 168461 CYCLIN D1; CCND1; 175800 POROKERATOSIS OF MIBELLI; 181430 SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191900 MUCKLE-WELLS SYNDROME; 232400 GLYCOGEN STORAGE DISEASE III; 232500 GLYCOGEN STORAGE DISEASE IV; 262600 PITUITARY DWARFISM III; 300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; 600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2; 600366 ISL LIM HOMEOBOX 1; ISL1; 600577 LIM HOMEOBOX GENE 3; LHX3; 601105 CATHEPSIN K; CTSK; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601990 TUMOR PROTEIN p73; TP73; 602146 LIM HOMEOBOX GENE 4; LHX4; 602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B; 602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1; 603451 LIM DOMAIN-BINDING 1; LDB1; 604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2; 604599 EUCHROMATIC HISTONE-LYSINE N-METHYLTRANSFERASE 2; EHMT2; 605194 CRYPTIC PROTEIN; CFC1; 605330 INTERLEUKIN 22; IL22; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4; 605697 UL16-BINDING PROTEIN 1; ULBP1; 606416 NLR FAMILY, PYRIN-DOMAIN CONTAINING 3; NLRP3; 608010 NPC1-LIKE 1; NPC1L1; 608455 GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM; 611760 PROTOCADHERIN 17; PCDH17; 611803 INTEGRIN-ALPHA FG-GAP REPEAT-CONTAINING PROTEIN 1; ITFG1; Clinical Synopsis for 113650 BRANCHIOOTORENAL SYNDROME 1; BOR1

February 20, 2008
New Entries:: 611803 SCAPULOPERONEAL MYOPATHY, MHY7-RELATED; 611804 ELLIPTOCYTOSIS 1; EL1
Changed Entries:: 117000 CENTRAL CORE DISEASE OF MUSCLE; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; 137060 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1;; 137061 MOVED TO 137060; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 163905 HIGH MOBILITY GROUP BOX 1; HMGB1; 181430 SCAPULOPERONEAL MYOPATHY; SPM; 184429 SRY-BOX 2; SOX2; 191030 TROPOMYOSIN 3; TPM3; 193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1; 271100 MOVED TO 153400; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 603009 DYSFERLIN; DYSF; 603199 INAD-LIKE; INADL; 603831 PDZ DOMAIN-CONTAINING 1; PDZK1; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 605331 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 3; EPB41L3; 605353 GHRELIN; GHRL; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ADIPOQ; 606425 EGL9, C. ELEGANS, HOMOLOG OF, 1; EGLN1; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C; 607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I; 609284 NEMALINE MYOPATHY 1; NEM1; 609820 ERYTHROCYTOSIS, FAMILIAL, 3; 611432 DEDICATOR OF CYTOKINESIS 8; DOCK8; 611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12; Clinical Synopsis for 271100 MOVED TO 153400

February 19, 2008
New Entries:: 611802 CHROMOSOME 17 OPEN READING FRAME 37; C17ORF37
Changed Entries:: 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2; 137295 GATA-BINDING PROTEIN 2; GATA2; 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1; 203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2; 203290 ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3; 208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;; 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1; 276300 MISMATCH REPAIR CANCER SYNDROME; 278400 ALBINISM, RUFOUS OCULOCUTANEOUS; ROCA; 300401 PROTEOLIPID PROTEIN 1; PLP1; 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; 556500 PARKINSON DISEASE, MITOCHONDRIAL; 590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK; 600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601756 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 602727 CHLORIDE CHANNEL 7; CLCN7; 603235 SELENOPROTEIN W, 1; SEPW1; 605537 ACTIVATING TRANSCRIPTION FACTOR 6; ATF6; 606350 APRATAXIN; APTX; 606574 OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4; 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B; 607631 EPILEPSY, JUVENILE ABSENCE; JAE; 607912 SELENOPROTEIN T; 608042 SYNAPTOTAGMIN-LIKE PROTEIN 1; SYTL1; 608213 BM88 ANTIGEN; 608625 PEPTIDYL-tRNA HYDROLASE 2; PTRH2; 609653 NDUFA12-LIKE; NDUFA12L; 611588 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M; 611610 PHOSPHOGLUCOMUTASE 2-LIKE 1; PGM2L1; 611611 S-PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM;; 611612 THIAMINE TRIPHOSPHATASE; THTPA; 611613 KDEL MOTIF-CONTAINING 1; KDELC1; 611614 UTP3, S. CEREVISIAE, HOMOLOG OF; UTP3; 611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X; 611616 NAD KINASE; NADK; 611617 EF-HAND DOMAIN FAMILY, MEMBER D1; EFHD1; 611618 ARTHROPATHY, TENDINOUS CALCINOSIS, AND PROGEROID FEATURES; 611619 MICRO RNA 877; MIRN877; 611620 MICRO RNA 1224; MIRN1224; 611621 MICRO RNA 1225; MIRN1225; 611623 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 1; NECAP1; 611624 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 2; NECAP2; 611625 CHROMOSOME 20 OPEN READING FRAME 11; C20ORF11; 611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9; 611786 MEDIATOR OF CELL MOTILITY 1; MEMO1; 611787 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 2, MITOCHONDRIAL; CMPK2; 611789 NA+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 2; NHEDC2; 611790 MYOSIN VIIA- AND RAB-INTERACTING PROTEIN; MYRIP; 611791 PATCHED DOMAIN-CONTAINING PROTEIN 3; PTCHD3; 611792 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 4; ZCCHC4; 611793 LSM12, S. CEREVISIAE, HOMOLOG OF; LSM12; 611794 MICRO RNA 369-3; MIRN369-3; 611795 MICRO RNA 145; MIRN145; 611796 SECRETOGRANIN III; SCG3; 611797 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE; UQCC; 611798 EFR3, S. CEREVISIAE, HOMOLOG OF, A; EFR3A; 611799 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL; 611800 THYROID ADENOMA-ASSOCIATED GENE; THADA; 611801 PER1-LIKE DOMAIN-CONTAINING PROTEIN 1; PERLD1; Clinical Synopsis for 101900 ACROKERATOSIS VERRUCIFORMIS; AKV; Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE; Clinical Synopsis for 123700 CUTIS LAXA, AUTOSOMAL DOMINANT; Clinical Synopsis for 179850 DOWLING-DEGOS DISEASE; DDD; Clinical Synopsis for 270300 PEELING SKIN SYNDROME; Clinical Synopsis for 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD

February 18, 2008
New Entries:: 611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9; 611800 THYROID ADENOMA-ASSOCIATED GENE; THADA; 611801 PER1-LIKE DOMAIN-CONTAINING PROTEIN 1; PERLD1
Changed Entries:: 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1; 114610 CANNABINOID RECEPTOR 1; CNR1; 117140 CENTROMERIC PROTEIN B; CENPB; 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1; 147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC; 154250 MALIC ENZYME 1; ME1; 164343 EARLY B-CELL FACTOR; EBF; 176871 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;; 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 600076 TENSIN 1; TNS1; 600201 AGOUTI SIGNALING PROTEIN; ASIP; 600534 BONE MARROW STROMAL CELL ANTIGEN 2; BST2; 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM; 603322 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 6; NDUFB6; 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1; 606825 TENSIN 3; TNS3; 607108 PAIRED BOX GENE 6; PAX6; 607216 SIDEKICK, DROSOPHILA, HOMOLOG OF, 1; SDK1; 607217 SIDEKICK, DROSOPHILA, HOMOLOG OF, 2; SDK2; 607717 TENSIN-LIKE C1 DOMAIN-CONTAINING PHOSPHATASE; TENC1; 608385 TENSIN 4; TNS4; 608801 GLUTARYL-CoA DEHYDROGENASE; GCDH; 611782 DOWN SYNDROME CELL ADHESION MOLECULE-LIKE 1; DSCAML1

February 15, 2008
New Entries:: 611796 SECRETOGRANIN III; SCG3; 611797 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE; UQCC; 611798 EFR3, S. CEREVISIAE, HOMOLOG OF, A; EFR3A; 611799 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL; Clinical Synopsis for 609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME; Clinical Synopsis for 610967 OSTEOGENESIS IMPERFECTA, TYPE V; Clinical Synopsis for 610968 OSTEOGENESIS IMPERFECTA, TYPE VI
Changed Entries:: 114480 BREAST CANCER; 114500 COLORECTAL CANCER; CRC; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL; 606611 DEFENSIN, BETA, 103A; DEFB103A; 606652 HEPATITIS A VIRUS CELLULAR RECEPTOR 2; HAVCR2; 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM; 606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3; 607174 MENINGIOMA, FAMILIAL; 607698 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR; LCOR; 609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME; 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO; 610967 OSTEOGENESIS IMPERFECTA, TYPE V; 610968 OSTEOGENESIS IMPERFECTA, TYPE VI; 611687 CHROMOSOME 6 OPEN READING FRAME 221; C6ORF221; 611795 MICRO RNA 145; MIRN145; 611796 SECRETOGRANIN III; SCG3; Clinical Synopsis for 270300 PEELING SKIN SYNDROME; Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS; Clinical Synopsis for 608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT; Clinical Synopsis for 610968 OSTEOGENESIS IMPERFECTA, TYPE VI

February 14, 2008
New Entries:: 611791 PATCHED DOMAIN-CONTAINING PROTEIN 3; PTCHD3; 611792 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 4; ZCCHC4; 611793 LSM12, S. CEREVISIAE, HOMOLOG OF; LSM12; 611794 MICRO RNA 369-3; MIRN369-3; 611795 MICRO RNA 145; MIRN145; Clinical Synopsis for 608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT; Clinical Synopsis for 609796 PEELING SKIN SYNDROME, ACRAL TYPE; Clinical Synopsis for 610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
Changed Entries:: 102200 ACROMEGALY; 114180 CALMODULIN 1; CALM1; 116945 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 2; MCM2; 140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA; 147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 156225 LAMININ, ALPHA-2; LAMA2; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; RHOA; 165720 OSTEOARTHRITIS; 182290 SMITH-MAGENIS SYNDROME; SMS; 216700 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; 600592 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 7; MCM7; 600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 602638 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 4; MCM4; 602693 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 3; MCM3; 602696 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 5; MCM5; 603903 SICKLE CELL ANEMIA; 604605 KALIRIN; KALRN; 605537 ACTIVATING TRANSCRIPTION FACTOR 6; ATF6; 605555 ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; AIP; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607359 DELETED IN BREAST CANCER 1; 607642 RETINOIC ACID-INDUCED GENE 1; RAI1; 608128 MOVED TO 604605; 608152 PROSTAGLANDIN E SYNTHASE 2; PTGES2; 608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT; 609189 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, A; ASF1A; 609190 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, B; ASF1B; 609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1; 609796 PEELING SKIN SYNDROME, ACRAL TYPE; 610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; 610215 RAC- AND CDC42-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR; 611251 PATCHED DOMAIN-CONTAINING PROTEIN 2; PTCHD2; 611792 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 4; ZCCHC4; Clinical Synopsis for 270300 PEELING SKIN SYNDROME; Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS

February 13, 2008
New Entries:: 611790 MYOSIN VIIA- AND RAB-INTERACTING PROTEIN; MYRIP
Changed Entries:: 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 115310 PARAGANGLIOMAS 4; PGL4; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 155540 MELANOCORTIN 3 RECEPTOR; MC3R; 162320 TACHYKININ 1; TAC1; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 175800 POROKERATOSIS OF MIBELLI; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 602974 AQUAPORIN 7; AQP7; 604970 AURORA KINASE B; AURKB; 606585 ENAMELIN; ENAM; 607463 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13-LIKE; PPP1R13L; 607640 ATAXIN 7; ATXN7; 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG; 608042 SYNAPTOTAGMIN-LIKE PROTEIN 1; SYTL1; 608794 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 1; PITPNM1; 608920 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 2; PITPNM2; 608921 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PITPNM3; 609587 REGULATOR OF CHROMOSOME CONDENSATION 2; RCC2; 609937 CELL DIVISION CYCLE-ASSOCIATED 7; CDCA7; 611043 LIN28, C. ELEGANS, HOMOLOG OF; LIN28; Clinical Synopsis for 175800 POROKERATOSIS OF MIBELLI

February 12, 2008
New Entries:: 611786 MEDIATOR OF CELL MOTILITY 1; MEMO1; 611787 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 2, MITOCHONDRIAL; CMPK2; 611789 NA+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 2; NHEDC2
Changed Entries:: 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 119540 CLEFT PALATE, ISOLATED; CPI; 142310 HEMOGLOBIN--ZETA LOCUS; HBZ; 144700 RENAL CELL CARCINOMA 1; RCC1; 159900 MYOCLONIC DYSTONIA; 167800 PANCREATITIS, HEREDITARY; PCTT; 173350 PLASMINOGEN; PLG; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 176270 PRADER-WILLI SYNDROME; PWS; 176920 PROTEUS SYNDROME; 180300 RHEUMATOID ARTHRITIS; RA; 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3; 191710 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 1, CYTOSOLIC; CMPK1; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM; 219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II; 246650 LIPASE DEFICIENCY, COMBINED; 261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2; 275360 TREHALASE; TREH; 278250 WRINKLY SKIN SYNDROME; WSS; 300690 BRAIN-EXPRESSED X-LINKED GENE 1; BEX1; 300691 BRAIN-EXPRESSED X-LINKED GENE 2; BEX2; 300692 BEX FAMILY MEMBER 4; BEX4; 300693 BEX FAMILY MEMBER 5; BEX5; 300694 MICRO RNA 223; MIRN223; 311800 PHOSPHOGLYCERATE KINASE 1; PGK1; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 601144 BRUGADA SYNDROME 1; 601405 CHYMOTRYPSIN C; CTRC; 601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY; 602005 SORTILIN-RELATED RECEPTOR; SORL1; 602117 NECDIN; NDN; 603371 GLE1, S. CEREVISIAE, HOMOLOG-LIKE; GLE1L; 603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE; 604799 HOMER, DROSOPHILA, HOMOLOG OF, 2; HOMER2; 604800 HOMER, DROSOPHILA, HOMOLOG OF, 3; HOMER3; 605283 MAGE-LIKE 2; MAGEL2; 605309 MACROCEPHALY/AUTISM SYNDROME; 605350 INTERLEUKIN 27 RECEPTOR, ALPHA; IL27RA; 606476 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC; 606611 DEFENSIN, BETA, 103A; DEFB103A; 607059 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4; SLC39A4; 607100 NEPHROCYSTIN; NPHP1; 607215 NEPHROCYSTIN 4; NPHP4; 607631 EPILEPSY, JUVENILE ABSENCE; JAE; 607808 NK2 HOMEOBOX 4; NKX2-4; 608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; 608815 EF-HAND DOMAIN (C-TERMINAL)-CONTAINING 1; EFHC1; 608866 FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), CANDIDATE GENE; 609709 GLYCOSYLTRANSFERASE-LIKE 1B; GYLTL1B; 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A; 611527 Na+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 1; NHEDC1; 611614 UTP3, S. CEREVISIAE, HOMOLOG OF; UTP3; 611622 IQ MOTIF-CONTAINING PROTEIN J; IQCJ; 611626 M-PHASE PHOSPHOPROTEIN 8; MPHOSPH8; 611627 FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER A; FAM57A; 611628 NEURON NAVIGATOR 1; NAV1; 611629 NEURON NAVIGATOR 3; NAV3; 611725 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 7; KCTD7; 611726 EPILEPSY, PROGRESSIVE MYOCLONIC 3; EPM3; 611731 APC GENE; 611760 PROTOCADHERIN 17; PCDH17; 611761 LIPASE MATURATION FACTOR 1; LMF1; 611763 LIMB BUD AND HEART DEVELOPMENT, MOUSE, HOMOLOG OF; LBH; 611764 CORNIFELIN; CNFN; 611765 SKIN ASPARTIC PROTEASE; 611766 MITOCHONDRIAL METHIONYL-tRNA FORMYLTRANSFERASE; MTFMT; 611767 MICRO RNA 126; MIRN126; 611769 MICRO RNA 128-2; MIRN128-2; 611770 NK2, DROSOPHILA, HOMOLOG OF, 6; NKX2-6; 611771 LIPOPROTEIN GLOMERULOPATHY; LPG; 611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2; 611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;; 611774 MICRO RNA 128-1; MIRN128-1; 611775 KAWASAKI DISEASE; 611776 HORMONE-REGULATED PROLIFERATION-ASSOCIATED PROTEIN, 20-KD; 611777 BRUGADA SYNDROME 2; 611778 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1-LIKE; GPD1L; 611779 FIBROUS SHEATH CABYR-BINDING PROTEIN; 611780 KIAA1542 GENE; 611781 PR DOMAIN-CONTAINING PROTEIN 14; PRDM14; 611782 DOWN SYNDROME CELL ADHESION MOLECULE-LIKE 1; DSCAML1; 611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4; 611784 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 6; GTF3C6; 611785 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 5; ABCB5; 611787 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 2, MITOCHONDRIAL; CMPK2; Clinical Synopsis for 173350 PLASMINOGEN; PLG; Clinical Synopsis for 269250 SCHNECKENBECKEN DYSPLASIA; Clinical Synopsis for 311800 PHOSPHOGLYCERATE KINASE 1; PGK1

February 11, 2008
New Entries:: 611777 BRUGADA SYNDROME 2; 611778 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1-LIKE; GPD1L; 611779 FIBROUS SHEATH CABYR-BINDING PROTEIN; 611780 KIAA1542 GENE; 611781 PR DOMAIN-CONTAINING PROTEIN 14; PRDM14; 611782 DOWN SYNDROME CELL ADHESION MOLECULE-LIKE 1; DSCAML1; 611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4; 611784 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 6; GTF3C6; 611785 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 5; ABCB5
Changed Entries:: 101400 SAETHRE-CHOTZEN SYNDROME; SCS; 114550 HEPATOCELLULAR CARCINOMA; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 128240 UTROPHIN; UTRN; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 167800 PANCREATITIS, HEREDITARY; PCTT; 168450 PARATHYROID HORMONE; PTH; 168600 PARKINSON DISEASE; PD; 189902 TRANSCRIPTION FACTOR DP1; TFDP1; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 272120 SUDDEN INFANT DEATH SYNDROME; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 601144 BRUGADA SYNDROME 1; 601405 CHYMOTRYPSIN C; CTRC; 603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1; 606428 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A3; UGT1A3; 606476 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC; 607962 MICRO RNA 23A; MIRN23A; 608632 MICRO RNA 196A1; MIRN196A1; 609327 MICRO RNA 124A1; MIRN124A1; 609355 MICRO RNA 32; MIRN32; 609416 MICRO RNA 17; MIRN17; 609582 MICRO RNA 122A; MIRN122A; 609687 MICRO RNA 196A2; MIRN196A2; 609688 MICRO RNA 196B; MIRN196B; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 610939 MICRO RNA 192; MIRN192; 610940 MICRO RNA 194-1; MIRN194-1; 610941 MICRO RNA 194-2; MIRN194-2; 610942 MICRO RNA 204; MIRN204; 610943 MICRO RNA 215; MIRN215; 610944 MICRO RNA 216; MIRN216; 610945 MICRO RNA 296; MIRN296; 610946 MICRO RNA 133B; MIRN133B; 611189 MICRO RNA 197; MIRN197; 611190 MICRO RNA 346; MIRN346; 611775 KAWASAKI DISEASE; 611778 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1-LIKE; GPD1L; 611779 FIBROUS SHEATH CABYR-BINDING PROTEIN; 611781 PR DOMAIN-CONTAINING PROTEIN 14; PRDM14

February 10, 2008
New Entries:: 611775 KAWASAKI DISEASE
Changed Entries:: 300530 MOVED TO 611775; 606476 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC

February 8, 2008
New Entries:: 611776 HORMONE-REGULATED PROLIFERATION-ASSOCIATED PROTEIN, 20-KD
Changed Entries:: 133430 ESTROGEN RECEPTOR 1; ESR1; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 147720 INTERLEUKIN 1-BETA; IL1B; 192090 CADHERIN 1; CDH1; 219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II; 261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2; 269250 SCHNECKENBECKEN DYSPLASIA; 278250 WRINKLY SKIN SYNDROME; WSS; 300683 SEPTIN 6; SEPT6; 600508 NCK ADAPTOR PROTEIN 1; NCK1; 600838 FORKHEAD BOX N1; FOXN1; 601506 SEPTIN 2; SEPT2; 603151 SEPTIN 7; SEPT7; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 603838 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 2; NDUFB2; 608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35; 608788 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7; 609086 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 20; FBXL20; 609695 4-@HYDROXYPHENYLPYRUVATE DIOXYGENASE; HPD; 610804 SOLUTE CARRIER FAMILY 35 (UDP-GLUCURONIC ACID/UDP-N-ACETYLGALACTOSAMINE; 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2; Clinical Synopsis for 253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1

February 7, 2008
New Entries:: 300694 MICRO RNA 223; MIRN223; 611769 MICRO RNA 128-2; MIRN128-2; 611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;; 611774 MICRO RNA 128-1; MIRN128-1
Changed Entries:: 107480 TOWNES-BROCKS SYNDROME; TBS; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 120200 COLOBOMA, OCULAR; 142410 HNF1 HOMEOBOX A; HNF1A; 144700 RENAL CELL CARCINOMA 1; RCC1; 164210 HEMIFACIAL MICROSOMIA; HFM; 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 189907 HNF1 HOMEOBOX B; HNF1B; 265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; 300017 FILAMIN A; FLNA; 300682 MICRO RNA 424; MIRN424; 304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600635 NK2 HOMEOBOX 1; NKX2-1; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 600727 NUCLEAR FACTOR I/A; NFIA; 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10; 602218 SAL-LIKE 1; SALL1; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 603245 NK2 HOMEOBOX 8; NKX2-8; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603434 PHOSPHOPROTEIN ENRICHED IN ASTROCYTES, 15-KD; PEA15; 603639 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17; 603709 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 22; ADAM22; 604150 POLYMERASE II, RNA, SUBUNIT J; POLR2J; 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; 604612 NK2 HOMEOBOX 2; NKX2-2; 604798 HOMER, DROSOPHILA, HOMOLOG OF, 1; HOMER1; 604824 KLOTHO; KL; 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12; 606246 JUXTAPOSED WITH ANOTHER ZINC FINGER GENE 1; JAZF1; 606667 G PROTEIN-COUPLED RECEPTOR 49; GPR49; 607808 NK2 HOMEOBOX 4; NKX2-4; 608542 ANEURYSM, INTRACRANIAL BERRY, 2; 608743 JP45, MOUSE, HOMOLOG OF; 609742 INTERLEUKIN 4-INDUCED GENE 1; IL4I1; 609881 RNA POLYMERASE II POLYPEPTIDE J-RELATED GENE; 611249 MICRO RNA LET7B; MIRNLET7B; 611319 FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER A; FAM14A; 611320 FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER B; FAM14B; 611629 NEURON NAVIGATOR 3; NAV3; 611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2

February 6, 2008
New Entries:: 611770 NK2, DROSOPHILA, HOMOLOG OF, 6; NKX2-6; 611771 LIPOPROTEIN GLOMERULOPATHY; LPG; 611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 112500 BRACHYDACTYLY, TYPE A1; BDA1; 120435 LYNCH SYNDROME I; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 128240 UTROPHIN; UTRN; 143100 HUNTINGTON DISEASE; HD; 163950 NOONAN SYNDROME 1; NS1; 176300 TRANSTHYRETIN; TTR; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1; 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM; 277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600167 HISTAMINE RECEPTOR H1; HRH1; 600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E; 600726 INDIAN HEDGEHOG; IHH; 604420 HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX; 605427 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4;; 606727 NK2, DROSOPHILA, HOMOLOG OF, C; NKX2C; 607272 NDC80, S. CEREVISIAE, HOMOLOG OF; NDC80; 611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2; Clinical Synopsis for 101400 SAETHRE-CHOTZEN SYNDROME; SCS

February 5, 2008
New Entries:: 611731 APC GENE
Changed Entries:: 102574 ACTININ, ALPHA-3; ACTN3; 103320 AGRIN; AGRN; 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 113705 BREAST CANCER 1 GENE; BRCA1; 114500 COLORECTAL CANCER; CRC; 114550 HEPATOCELLULAR CARCINOMA; 116806 CATENIN, BETA-1; CTNNB1; 116952 CELL DIVISION CYCLE 42; CDC42; 117139 CENTROMERIC PROTEIN A; CENPA; 120435 LYNCH SYNDROME I; 120470 DELETED IN COLORECTAL CARCINOMA; DCC; 125265 RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5; 126060 DIHYDROFOLATE REDUCTASE; DHFR; 126430 TOPOISOMERASE, DNA, II, ALPHA; TOP2A; 133239 ESOPHAGEAL CANCER; 135290 DESMOID DISEASE, HEREDITARY; 137215 GASTRIC CANCER; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;; 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A; 147183 RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA,; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 147720 INTERLEUKIN 1-BETA; IL1B; 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1; 153337 LYMPHOCYTE ACTIVATION GENE 3; LAG3; 155255 MEDULLOBLASTOMA; 156590 CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME; 159350 MUTATED IN COLORECTAL CANCERS; MCC; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163905 HIGH MOBILITY GROUP BOX 1; HMGB1; 163910 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2; HMGN2; 164360 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, ALPHA SUBUNIT,; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 165640 ORNITHINE DECARBOXYLASE 1; ODC1; 172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A; 173325 JUNCTION PLAKOGLOBIN; JUP; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 176300 TRANSTHYRETIN; TTR; 176982 PROTEIN KINASE C, ZETA FORM; PRKCZ; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 182175 SIGNAL RECOGNITION PARTICLE, 19-KD; SRP19; 186745 TALIN 1; TLN1; 189908 TRANSCRIPTION FACTOR 7; TCF7; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191092 TSC2 GENE; TSC2; 191170 TUMOR PROTEIN p53; TP53; 192090 CADHERIN 1; CDH1; 206750 ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR; 211170 BORRONE DERMATOCARDIOSKELETAL SYNDROME; 222600 DIASTROPHIC DYSPLASIA; 225320 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM; 235200 HEMOCHROMATOSIS; HFE; 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; 267430 RENAL TUBULAR DYSGENESIS; RTD; 300189 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 3; DLG3; 300329 KAISO GENE; 300336 NEUROLIGIN 3; NLGN3; 300358 PROTEIN KINASE, LYSINE-DEFICIENT 3; WNK3; 300389 RETINITIS PIGMENTOSA 3; RP3; 300647 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B; 300690 BRAIN-EXPRESSED X-LINKED GENE 1; BEX1; 300691 BRAIN-EXPRESSED X-LINKED GENE 2; BEX2; 308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600185 BRCA2 GENE; BRCA2; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2; 600393 FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 600582 ASPARTATE BETA-HYDROXYLASE; ASPH; 600600 EPHRIN RECEPTOR EphB1; EPHB1; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 600725 SONIC HEDGEHOG; SHH; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4; 601023 VALOSIN-CONTAINING PROTEIN; VCP; 601070 INTERLEUKIN 15 RECEPTOR, ALPHA; IL15RA; 601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602212 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602408 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 603108 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 1; MAPRE1; 603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1; 603410 FRIZZLED, DROSOPHILA, HOMOLOG OF, 7; FZD7; 603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4; 603673 PATCHED, DROSOPHILA, HOMOLOG OF, 2; PTCH2; 603816 AXIS INHIBITOR 1; AXIN1; 604025 AXIS INHIBITOR 2; AXIN2; 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3; 604156 SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1; 604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 604927 C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF,; 604933 MutY, E. COLI, HOMOLOG OF; MUTYH; 604970 AURORA KINASE B; AURKB; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605216 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 605284 TSC1 GENE; TSC1; 605445 DISCS LARGE-ASSOCIATED PROTEIN 1; DLGAP1; 605462 BASAL CELL CARCINOMA, MULTIPLE; 605788 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 3; MAPRE3; 605789 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 2; MAPRE2; 606495 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 4; MARK4; 607139 FANCA GENE; FANCA; 607479 APC, DOWNREGULATED BY, 1; APCDD1; 607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A; 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG; 608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; 608760 AUTOPHAGY 7, S. CEREVISIAE, HOMOLOG OF; ATG7; 610456 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9; SAMD9; 611766 MITOCHONDRIAL METHIONYL-tRNA FORMYLTRANSFERASE; MTFMT; Clinical Synopsis for 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC

February 4, 2008
New Entries:: 300690 BRAIN-EXPRESSED X-LINKED GENE 1; BEX1; 300691 BRAIN EXPRESSED X-LINKED GENE 2; BEX2; 300692 BEX FAMILY MEMBER 4; BEX4; 300693 BEX FAMILY MEMBER 5; BEX5; 611767 MICRO RNA 126; MIRN126; 611768 MICRO RNA 335; MIRN335
Changed Entries:: 105590 ANAPLASTIC LYMPHOMA KINASE; ALK; 114480 BREAST CANCER; 120950 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA; 146730 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1; 146740 Fc FRAGMENT OF IgG, LOW AFFINITY IIIa, RECEPTOR FOR; FCGR3A; 147139 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, GAMMA SUBUNIT;; 147140 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, ALPHA SUBUNIT;; 147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO; 147575 INTERFERON REGULATORY FACTOR 1; IRF1; 158340 MUCIN 1, TRANSMEMBRANE; MUC1; 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 168600 PARKINSON DISEASE; PD; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 174763 POLYMERASE, DNA, GAMMA; POLG; 177400 BUTYRYLCHOLINESTERASE; BCHE; 184429 SRY-BOX 2; SOX2; 184430 SRY-BOX 4; SOX4; 187380 TENASCIN C; TNC; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 191170 TUMOR PROTEIN p53; TP53; 233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,; 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG; 300361 NERVE GROWTH FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; NGFRAP1; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 300690 BRAIN-EXPRESSED X-LINKED GENE 1; BEX1; 300691 BRAIN EXPRESSED X-LINKED GENE 2; BEX2; 300692 BEX FAMILY MEMBER 4; BEX4; 309500 RENPENNING SYNDROME 1; RENS1; 311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1; 600075 TATA BOX-BINDING PROTEIN; TBP; 600431 CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B; 600516 BCL2 ANTAGONIST KILLER 1; BAK1; 601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1; 601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A; 602253 KRUPPEL-LIKE FACTOR 4; KLF4; 606604 F-BOX ONLY PROTEIN 32; FBXO32; 608512 NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1; 609674 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 1; ESCO1; 610094 DEF6, MOUSE, HOMOLOG OF; DEF6; 610744 IRIS PATTERN; Clinical Synopsis for 610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11

February 1, 2008
New Entries:: 611766 MITOCHONDRIAL METHIONYL-tRNA FORMYLTRANSFERASE; MTFMT
Changed Entries:: 104620 AMINOACYLASE 1; ACY1; 117210 SPINOCEREBELLAR ATAXIA, 16q22-LINKED; 124910 MOVED TO 124900; 150330 LAMIN A/C; LMNA; 151623 LI-FRAUMENI SYNDROME 1; LFS1; 191170 TUMOR PROTEIN p53; TP53; 300384 EMERIN; EMD; 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD; 600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE; 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1; 604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 609924 AMINOACYLASE 1 DEFICIENCY; 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION; 610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67; 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; 611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9; Clinical Synopsis for 124910 MOVED TO 124900; Clinical Synopsis for 208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;; Clinical Synopsis for 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1

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