OMIM Update List for March, 1996

PubMed

Nucleotide

Protein

Genome

OMIM Update List for March, 1996

Please send your questions to the NCBI Help Desk.

March 31, 1996
New Entries:: 601167 PURINERGIC RECEPTOR P2Y, G-PROTEIN COUPLED, 1; P2RY1
Changed Entries:: 100500 ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER; 126600 DOYNE HONEYCOMB DEGENERATION OF RETINA; DHD; 133171 ERYTHROPOIETIN RECEPTOR; EPOR; 160900 DYSTROPHIA MYOTONICA; DM; 174050 POLYCYSTIC LIVER DISEASE; PLD; 235400 HEMOLYTIC-UREMIC SYNDROME; HUS; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 306700 HEMOPHILIA A; 600041 PURINERGIC RECEPTOR P2Y, G-PROTEIN COUPLED, 2; P2RY2

March 30, 1996
Changed Entries:: 134797 FIBRILLIN-1; FBN1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176270 PRADER-WILLI SYNDROME; PWS; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 191170 TUMOR PROTEIN p53; TP53; 245349 LACTIC ACIDEMIA DUE TO DEFECT IN THE X-LIPOYL CONTAINING COMPONENT; 261600 PHENYLKETONURIA; PKU1; 262890 PLATELET RECEPTOR FOR FACTOR X, DEFICIENCY OF; 266200 PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; 306700 HEMOPHILIA A; 306900 HEMOPHILIA B; HEMB; 313700 TESTICULAR FEMINIZATION SYNDROME; TFM; 516003 COMPLEX I, SUBUNIT ND4; MTND4

March 29, 1996
New Entries:: 601168 UNC-33-LIKE PHOSPHOPROTEIN
Changed Entries:: 107580 TRANSCRIPTION FACTOR AP-2, ALPHA; TFAP2A; 120150 COLLAGEN, TYPE I, ALPHA-1 CHAIN; COL1A1; 120330 COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE; 134820 FIBRINOGEN--ALPHA POLYPEPTIDE CHAIN; FGA; 151385 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2; CBFA2; 154700 MARFAN SYNDROME; MFS; 163260 NUCLEAR FACTOR ERYTHROID-2-LIKE 1; NFE2L1; 208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES; 211970 CAMPOMELIC DYSPLASIA; CMD1; 234200 HALLERVORDEN-SPATZ DISEASE; 258865 ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES; 266600 REGIONAL ENTERITIS; 273300 TESTICULAR TUMORS; 300037 GLYPICAN-3; GPC3; 600284 ELL GENE; ELL; 600284 ELL GENE; ELL; 600300 SOLUTE CARRIER FAMILY 1, MEMBER 2; SLC1A2; 600300 SOLUTE CARRIER FAMILY 1, MEMBER 2; SLC1A2; 600845 P2X RECEPTOR, SUBUNIT 1; P2X1; 600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE; 601047 CAVEOLIN-1; CAV; CAV1; 601059 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR; 601070 INTERLEUKIN-15 RECEPTOR, ALPHA; IL15RA; 601083 CD4/CD8 T-CELL RATIO; 601095 HARROD SYNDROME; 601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3; 601146 CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 1; CDMP1; 601157 DEFENSIN 4, CORTICOSTATIN; DEF4

March 28, 1996
New Entries:: 300044 TRANSKETOLASE-2; TKT2; 601160 LISSENCEPHALY SYNDROME TYPE III; 601161 TRISOMY 18-LIKE SYNDROME; 601162 CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES; 601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS; 601164 EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM AND; 601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION,; 601166 G-PROTEIN-COUPLED RECEPTOR 15; GPR15
Changed Entries:: 106150 ANGIOTENSIN I; AGT; 113811 COLLAGEN, TYPE XVII, ALPHA-1 POLYPEPTIDE; COL17A1; 126700 DRUSEN OF BRUCH MEMBRANE; 158340 MUCIN 1, URINARY; MUC1; 179508 RAB1, MEMBER RAS ONCOGENE FAMILY; RAB1; 186730 T-CELL GLYCOPROTEIN CD8B; CD8B; 188395 THYMOSIN-BETA-4; TMSB4; 190198 NOTCH (DROSOPHILA) HOMOLOG 1; NOTCH1; 190198 NOTCH (DROSOPHILA) HOMOLOG 1; NOTCH1; 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; 277730 WERNICKE-KORSAKOFF SYNDROME; 300100 ADRENOLEUKODYSTROPHY; ALD; 600381 CG-1 ANTIGEN; CG1; 600443 GLUTAREDOXIN; GLRX; 600823 PROTEASE, SERINE, 8; PRSS8; 600827 PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, CONE, ALPHA PRIME; PDE6C; 600835 STROMAL CELL-DERIVED FACTOR 1; SDF1; 600853 HEPARAN SULFATE-N-DEACETYLASE/N-SULFOTRANSFERASE; HSST; 600853 HEPARAN SULFATE-N-DEACETYLASE/N-SULFOTRANSFERASE; HSST; 600859 JTV1 GENE; 600860 GENERAL TRANSCRIPTION FACTOR IIIA; GTF3A; 600863 CASEIN KINASE 1, EPSILON; CSNK1E; 600864 CASEIN KINASE 1, DELTA; CSNK1D; 600881 CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS; 600897 GAP JUNCTION PROTEIN, ALPHA-8, 50 kD; GJA8

March 27, 1996
New Entries:: 601156 EOTAXIN; 601159 CHEMOKINE (C-C) RECEPTOR 1; CMKBR1
Changed Entries:: 109150 AZOREAN NEUROLOGIC DISEASE; 118661 CHONDROITIN SULFATE PROTEOGLYCAN 2; CSPG2; 120435 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 1; FCC1; 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; 126452 DOPAMINE RECEPTOR D4; DRD4; 137241 GASTRIC INHIBITORY POLYPEPTIDE RECEPTOR; GIPR; 143100 HUNTINGTON DISEASE; HD; 145500 HYPERTENSION, ESSENTIAL; 151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL; 159440 MYELIN PROTEIN ZERO; MPZ; 160980 MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY; 165370 APLYSIA RAS-RELATED HOMOLOG 6; ARH6; 167771 PANCREATIC STONE PROTEIN, SECRETORY, 2; PSPS2; 168461 CYCLIN D1; CCND1; 217030 COMPLEMENT COMPONENT-3 INACTIVATOR, DEFICIENCY OF; 222900 DISACCHARIDE INTOLERANCE I; 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FACC; 264480 PSEUDOTRISOMY 13 SYNDROME; 300028 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT; 309860 MONOAMINE OXIDASE B; MAOB; 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC; 600108 MATRIX METALLOPROTEINASE-13; MMP13; 600846 P2X RECEPTOR, SUBUNIT 4; P2X4; 600879 NUCLEAR RESPIRATORY FACTOR 1; NRF1; 601075 APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION; 601079 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT; 601080 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT; 601123 SIALYLTRANSFERASE 8; SIAT8; 601150 DEAD/H (ASP-GLU-ALA-ASP/HIS) BOX POLYPEPTIDE 11; DDX11; 601151 DEAD/H (ASP-GLU-ALA-ASP/HIS) BOX POLYPEPTIDE 12; DDX12

March 26, 1996
New Entries:: 601157 DEFENSIN 4, CORTICOSTATIN; DEF4; 601158 C-JUN KINASE; JNK1
Changed Entries:: 104614 SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1; 104614 SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1; 104614 SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1; 109150 AZOREAN NEUROLOGIC DISEASE; 111700 BLOOD GROUP--RHESUS SYSTEM Cc/Ee POLYPEPTIDES; RHC; RHE; RHCE; 114000 CAFFEY DISEASE; 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 118946 CILIARY NEUROTROPHIC FACTOR RECEPTOR; CNTFR; 122560 CORTICOTROPIN-RELEASING HORMONE; CRH; 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; 134920 FIBROBLAST GROWTH FACTOR-2; FGF2; 137800 GLIOMA OF BRAIN; 143100 HUNTINGTON DISEASE; HD; 143100 HUNTINGTON DISEASE; HD; 143100 HUNTINGTON DISEASE; HD; 143100 HUNTINGTON DISEASE; HD; 148067 KERATIN 16; KRT16; K16; 148820 KLEIN-WAARDENBURG SYNDROME; 158000 MONILETHRIX; 159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT; 160900 DYSTROPHIA MYOTONICA; DM; 161800 NEMALINE MYOPATHY; 161950 NEPHRITIS, IgA TYPE; 164400 OLIVOPONTOCEREBELLAR ATROPHY I; OPCA I; 165120 V-YES-1 YAMAGUCHI SARCOMA VIRAL RELATED ONCOGENE HOMOLOG; LYN; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 174900 POLYPOSIS COLI, JUVENILE TYPE; 176807 PROSTATE CANCER; PRCA1; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, 11; PTPN11; 180646 RNA, SMALL NUCLEOLAR E2; RNE2; 180849 RUBINSTEIN SYNDROME; 182870 SPECTRIN, BETA SUBUNIT; SPTB; 182920 SPHEROID BODY MYOPATHY; 186770 T-CELL LEUKEMIA-3; TCL3; 188070 THROMBOXANE A2 RECEPTOR, PLATELET; TBXA2R; 191090 TUBEROUS SCLEROSIS-4; TSC4; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 210900 BLOOM SYNDROME; BLM; 216360 COACH SYNDROME; 220290 DEAFNESS, NEUROSENSORY AUTOSOMAL RECESSIVE, 1; DFNB1; 230400 GALACTOSEMIA; 231670 GLUTARICACIDEMIA I; 231680 GLUTARICACIDURIA IIA; GA IIA; 232400 GLYCOGEN STORAGE DISEASE III; 232400 GLYCOGEN STORAGE DISEASE III; 232500 GLYCOGEN STORAGE DISEASE IV; 246400 LETTERER-SIWE DISEASE; 254770 MYOCLONIC EPILEPSY, JUVENILE; EJM1; EJM; JME; 263520 POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II; 267700 RETICULOSIS, FAMILIAL HISTIOCYTIC; 267700 RETICULOSIS, FAMILIAL HISTIOCYTIC; 300700 ALBINISM-DEAFNESS SYNDROME; ADFN; ALDS; 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE; HPRT; HGPRT; 309400 MENKES SYNDROME; 309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA (X)(Q28); FRAXE; 309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE; 309550 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q27.3); 600353 S100 CALCIUM-BINDING PROTEIN A7; S100A7; 600471 DEFENSIN 6; DEF6; 600472 DEFENSIN 5; DEF5; 600542 CHONDROSARCOMA, MYXOID EXTRASKELETAL, FUSED TO EWS; CSMF; 600674 MICROTIA-ANOTIA; 600722 PALMITOYL-PROTEIN THIOESTERASE; PPT; 600837 GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; GDNF; 600936 HYALURONAN-MEDIATED MOTILITY RECEPTOR; HMMR; 600939 INTERLEUKIN-11 RECEPTOR, ALPHA; IL11RA; 600947 HUNTINGTIN-ASSOCIATED PROTEIN; HAP1; 600959 BETA COAT PROTEIN; COPB; 600968 NA-CL COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT; 600978 TUMOR NECROSIS FACTOR C; TNFC; 600979 TUMOR NECROSIS FACTOR C RECEPTOR; TNFCR; 601009 TIGHT JUNCTION PROTEIN 1; TJP1; 601010 TRANSCRIPTION FACTOR-15; TCF15; 601014 DISCS, LARGE (DROSOPHILA) HOMOLOG 1; DLG1; 601023 VALOSIN-CONTAINING PROTEIN; VCP; 601024 CLATHRIN ADAPTOR PROTEIN 50; CLAPM1; 601026 CLATHRIN ADAPTOR PROTEIN, ALPHA SUBUNIT; CLAPA1; 601029 PATERNALLY EXPRESSED GENE 3; PEG3; 601031 RHOPHILIN; 601032 SERINE-THREONINE PROTEIN KINASE N; PKN; 601068 MYOCLONUS EPILEPSY, BENIGN ADULT FAMILIAL; MEBA; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601120 CADHERIN-5; CDH5; 601120 CADHERIN-5; CDH5; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601144 RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION AND SUDDEN DEATH,; 601149 ISOCITRATE DEHYDROGENASE 3 (NAD+) ALPHA; IDH3A

March 25, 1996
New Entries:: 300042 ALOPECIA, CONGENITAL; 300043 HEPATOMA-DERIVED GROWTH FACTOR; HDGF; 601144 RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION AND SUDDEN DEATH,; 601146 CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 1; CDMP1; 601147 CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 2; CDMP2; 601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP; 601149 ISOCITRATE DEHYDROGENASE 3 (NAD+) ALPHA; IDH3A; 601150 CHL1-RELATED HELICASE GENE-1; CHLR1; 601151 CHL1-RELATED HELICASE GENE-2; CHLR2; 601153 FRAGILE HISTIDINE TRIAD GENE; FHIT; 601155 MINOR HISTOCOMPATIBILITY ANTIGEN HA-1; HA1
Changed Entries:: 104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3; 107400 PROTEASE INHIBITOR 1 (ANTI-ELASTASE), ALPHA-1-ANTITRYPSIN; PI; 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4; 123837 CYCLIN E; CCNE; 123838 CYCLIN C; CCNC; 124010 CYTOCHROME P-450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 124060 CYTOCHROME P-450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2; 138319 GLUTATHIONE PEROXIDASE-2; GPX2; 142410 TRANSCRIPTION FACTOR 1, HEPATIC; TCF1; 144700 HYPERNEPHROMA; 147650 ISOCITRIC DEHYDROGENASE 2 (NADP+), MITOCHONDRIAL; IDH2; 147700 ISOCITRIC DEHYDROGENASE 1 (NADP+), SOLUBLE; IDH1; 153330 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN A; LAMP1; 163800 NODAL RHYTHM; 173445 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE; PECAM1; 173900 POLYCYSTIC KIDNEYS; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 176886 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR TYPE, GAMMA POLYPEPTIDE; PTPRG; 177735 PSEUDOHYPOALDOSTERONISM, TYPE I; 201250 ACROMESOMELIC DWARFISM; 235200 HEMOCHROMATOSIS; HFE; 264350 PSEUDOHYPOALDOSTERONISM, TYPE I; PHA1; 300019 HOST CELL FACTOR C1; HCFC1; 310300 MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES; 600022 PROSTAGLANDIN I2 RECEPTOR; PTGIR; 600228 SODIUM CHANNEL, NONVOLTAGE-GATED, 1; SCNN1A; 600339 MOVED TO 300043; 600436 GLUTATHIONE-S-TRANSFERASE THETA 1; GSTT1; 600478 SUPERKILLER VIRALICIDIC ACTIVITY 2; SKIV2; 600563 PROSTAGLANDIN F RECEPTOR (FP); PTGFR; 600633 TREFOIL FACTOR 3, INTESTINAL; TFF3; 600642 MINOR HISTOCOMPATIBILITY ANTIGEN HA-2; HA2; 600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1 BETA; SCNN1B; 600865 NEUROENDOCRINE-SPECIFIC PROTEIN; NSP; 600897 GAP JUNCTION PROTEIN, ALPHA-8, 50 kD; GJA8; 601036 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H-PRIME; HNRPH2; 601151 CHL1-RELATED HELICASE GENE-2; CHLR2; Clinical Synopsis for 600542 CHONDROSARCOMA, MYXOID EXTRASKELETAL, FUSED TO EWS; CSMF

March 22, 1996
New Entries:: 601152 PERIPHERAL NEUROPATHY AND OPTIC ATROPHY; 601154 CARDIOMYOPATHY, FAMILIAL DILATED, 2; CMPD2
Changed Entries:: 109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1; 115200 CARDIOMYOPATHY, FAMILIAL IDIOPATHIC; 118200 CHARCOT-MARIE-TOOTH DISEASE 1B; CMT1B; 118210 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, A; CMT2A; 118210 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, A; CMT2A; 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A; 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A; 120360 MATRIX METALLOPROTEINASE-2; MMP2; 160900 DYSTROPHIA MYOTONICA; DM; 266500 REFSUM DISEASE; 266500 REFSUM DISEASE; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 600049 MYELODYSPLASIA SYNDROME-ASSOCIATED SEQUENCE-1; 600884 CARDIOMYOPATHY, FAMILIAL DILATED

March 21, 1996
New Entries:: 601133 CYTOCHROME P450, SUBFAMILY IIG, OLFACTORY-SPECIFIC; CYP2G1; 601141 POTASSIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-1 SUBUNIT; KCNA1B; 601142 POTASSIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; KCNA2B; 601143 DYNACTIN 1; DCTN1; 601145 CYSTATIN B; CST6
Changed Entries:: 105150 AMYLOIDOSIS VI; 114208 CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL; 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4; 125480 MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL; 134797 FIBRILLIN-1; FBN1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142230 HEMOPOIETIC PROGENITOR CELL ANTIGEN CD34; CD34; 142360 HEPARIN COFACTOR II DEFICIENCY; 145500 HYPERTENSION, ESSENTIAL; 156790 MICROFIBRIL-ASSOCIATED PROTEIN 2; MFAP2; 159440 MYELIN PROTEIN ZERO; MPZ; 164740 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E2 ONCOGENE HOMOLOG 2; ETS2; 167800 PANCREATITIS, HEREDITARY; 172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B; 180849 RUBINSTEIN SYNDROME; 191170 TUMOR PROTEIN p53; TP53; 216411 COCKAYNE SYNDROME, TYPE III; 230400 GALACTOSEMIA; 234200 HALLERVORDEN-SPATZ DISEASE; 237500 HYPERBILIRUBINEMIA II; 252100 MOHR SYNDROME; 254800 MYOCLONUS EPILEPSY OF UNVERRICHT AND LUNDBORG; 260490 PANOSTOTIC FIBROUS DYSPLASIA; 263200 POLYCYSTIC KIDNEY AND HEPATIC DISEASE-1; PKHD1; 308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI; KFSD; 309200 MANIC-DEPRESSIVE PSYCHOSIS, X-LINKED; 410000 AMELOGENIN, Y-CHROMOSOMAL; AMELY; 600119 ADHALIN; ADL; 600595 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, MOUSE TG737, HUMAN; 600658 PROTEIN PHOSPHATASE 5, CATALYTIC SUBUNIT; PPP5C; 600698 HIGH MOBILITY GROUP PROTEIN HMGI-C; HMGIC; 600837 GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; GDNF; 600887 MutS HUMAN HOMOLOG 3; MSH3; 601103 MICROFIBRIL-ASSOCIATED GLYCOPROTEIN 2; MAGP2

March 20, 1996
New Entries:: 300041 GUANYLYL CYCLASE 2F, RETINAL; GUC2F; 601134 INTEGRAL MEMBRANE PROTEIN 1; IGM1; 601135 GASTRULATION AND BRAIN SPECIFIC-2; GBX2; 601136 TRANSSUPPRESSOR OF EXPRESSION-2; TSE2; 601137 GUANYLYL CYCLASE, MEMBRANE, TYPE D; GUCY2D; 601138 GUANYLYL CYCLASE, MEMBRANE, TYPE E; GUCY2E; 601139 ZINC FINGER PROTEIN OTK18; 601140 PHOSPHOLIPASE C-BETA-3 NEIGHBORING GENE; PNG
Changed Entries:: 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA SUBUNIT (Gq CLASS); GNA11; 158375 MUCIN 7, SALIVARY; MUC7; 173350 PLASMINOGEN; PLG; 235200 HEMOCHROMATOSIS; HFE; 600179 GUANYLATE CYCLASE 2D, RETINAL; GUC2D; 600678 G/T MISMATCH-BINDING PROTEIN; GTBP; 600692 TROPONIN-T3, FAST SKELETAL; TNNT3; 600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A; 600926 PROTEIN TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EPSILON; PTPRE; 600926 PROTEIN TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EPSILON; PTPRE; 601136 TRANSSUPPRESSOR OF EXPRESSION-2; TSE2

March 19, 1996
New Entries:: 601132 KINASE SUPPRESSOR OF RAS; KSR
Changed Entries:: 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPD; 143100 HUNTINGTON DISEASE; HD; 173350 PLASMINOGEN; PLG; 173350 PLASMINOGEN; PLG; 600673 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I); UBTF; 601128 H3 HISTONE, FAMILY 3A; H3F3A

March 18, 1996
New Entries:: 601114 DISCS, LARGE (DROSOPHILA) HOMOLOG 3; DLG3; 601115 GLUTAMATE RECEPTOR, METABOTROPIC, 3; GRM3; 601116 GLUTAMATE RECEPTOR, METABOTROPIC, 8; GRM8; 601117 THIMET OLIGOPEPTIDASE 1; THOP1; 601118 CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG; 601128 NEW ENTRY: H3F3A, Histone type 3A; 601129 CYTOCHROME P-450, SUBFAMILY IIC, POLYPEPTIDE 8; CYP2C8; 601130 CYTOCHROME P-450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9; 601131 CYTOCHROME P-450, SUBFAMILY IIC, POLYPEPTIDE 18; CYP2C18
Changed Entries:: 107580 TRANSCRIPTION FACTOR AP-2, ALPHA; TFAP2A; 107580 TRANSCRIPTION FACTOR AP-2, ALPHA; TFAP2A; 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 124020 CYTOCHROME P-450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; 137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN; 162642 NEUROPEPTIDE Y Y2 RECEPTOR; NPY2R; 164940 GARDNER-RASHEED FELINE SARCOMA VIRAL (V-FGR) ONCOGENE; FGR; 190090 V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENE; SRC; 305360 MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1; 600267 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, 13; PTPN13; 600673 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I); UBTF; 600944 DEOXYHYPUSINE SYNTHASE; DHPS

March 15, 1996
Changed Entries:: 104614 SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1; 120140 COLLAGEN, TYPE II, ALPHA-1 CHAIN; COL2A1; 120140 COLLAGEN, TYPE II, ALPHA-1 CHAIN; COL2A1; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 125480 MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL; 137295 GATA-BINDING PROTEIN 2; GATA2; 143100 HUNTINGTON DISEASE; HD; 150310 LAMININ, BETA 3; LAMB3; 151385 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2; CBFA2; 154700 MARFAN SYNDROME; MFS; 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF; 165215 ECTROPIC VIRAL INTEGRATION SITE-1; EVI1; 180474 RIBOSOMAL PROTEIN L22; RPL22; 191092 TUBEROUS SCLEROSIS-2; TSC2; 220100 CYSTINURIA; CSNU; 220110 CYTOCHROME-c-OXIDASE DEFICIENCY; 226700 EPIDERMOLYSIS BULLOSA LETALIS; 232300 GLYCOGEN STORAGE DISEASE II; 305371 GATA-BINDING PROTEIN 1; GATA1; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 309200 MAJOR AFFECTIVE DISORDER 2; MAFD2; 309200 MANIC-DEPRESSIVE PSYCHOSIS, X-LINKED; 309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE;; 600049 MYELODYSPLASIA SYNDROME-ASSOCIATED SEQUENCE-1; 600918 CYSTINURIA, TYPE III; CSNU3; 601121 PLACENTAL GROWTH FACTOR; PGF

March 14, 1996
New Entries:: 300039 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4; 300040 SEGREGATION OF MITOTIC CHROMOSOMES, 1; SMC1;; 601126 TATA ELEMENT MODULATORY FACTOR 1; TMF1; 601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION; Clinical Synopsis for 300039 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4
Changed Entries:: 106180 ANGIOTENSIN I CONVERTING ENZYME; ACE; ACE1; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 111400 BLOOD GROUP--P SYSTEM; 117550 CEREBRAL GIGANTISM; 123812 CYCLIC-AMP-RESPONSE-ELEMENT MODULATOR; CREM; 125480 DEPRESSIVE DISORDER; 142925 HLA-H HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLAH; 152790 LUTEINIZING HORMONE-CHORIOGONADOTROPIN RECEPTOR; LHCGR; 157975 MOVED TO 172411; 164905 ONCOGENE RCK; RCK; 172411 PHOSPHOLIPASE A2, GROUP 2A; PLA2G2A; 172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A; 175200 POLYPOSIS, HAMARTOMATOUS INTESTINAL; 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM; 222400 DIAPHRAGM, UNILATERAL AGENESIS OF; 263520 POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II; 264480 PSEUDOTRISOMY 13 SYNDROME; 276903 MYOSIN VIIA; MYO7A; 300039 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4; 300040 SEGREGATION OF MITOTIC CHROMOSOMES, 1; SMC1; 304400 DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION; 309550 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28; 310300 MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES; 314690 XE169 GENE; XE169;; 600420 MOVED TO 300039; 600420 MOVED TO 300039; 600476 MOVED TO 300040; Clinical Synopsis for 600420 MOVED TO 300039

March 13, 1996
New Entries:: 601120 CADHERIN-5; CDH5; 601121 PLACENTAL GROWTH FACTOR; PIGF; 601122 SEROTONIN 5-HT-2B RECEPTOR; HTR2B; 601123 SIALYLTRANSFERASE 8; SIAT8; 601124 SEMAPHORIN III/F; SEMA3F; 601125 HEXOKINASE 2; HK2
Changed Entries:: 103720 ALCOHOL DEHYDROGENASE-2; ADH2; 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4; 123000 CRANIOMETAPHYSEAL DYSPLASIA, DOMINANT TYPE; 125310 DEMENTIA, HEREDITARY MULTI-INFARCT TYPE; 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; 138251 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL D-ASPARTATE A; GRINA; 141500 HEMIPLEGIC MIGRAINE, FAMILIAL; MHP; 154200 NAD-DEPENDENT MDH; MDH1; 176916 PROTEIN PHOSPHATASE 2A, CATALYTIC SUBUNIT, BETA ISOFORM; PPP2CB; 181500 SCHIZOPHRENIA-2; 182135 SEROTONIN 5-HT-2A RECEPTOR; HTR2A; 189964 GENERAL TRANSCRIPTION FACTOR IIE, POLYPEPTIDE 2; GTF2E2; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 216400 COCKAYNE SYNDROME, TYPE I; CKN1; 259730 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS; 300300 AGAMMAGLOBULINEMIA; 300300 AGAMMAGLOBULINEMIA; 301500 ANGIOKERATOMA, DIFFUSE; 314690 XE169 GENE; XE169;; 400001 SELECTED MOUSE cDNA ON Y, HUMAN HOMOLOG OF; SMCY; 600025 KINESIN 2; KNS2; 600056 MOVED TO 314690; 600864 CASEIN KINASE 1, DELTA; CSNK1D; 600864 CASEIN KINASE 1, DELTA; CSNK1D; 600939 INTERLEUKIN-11 RECEPTOR, ALPHA; IL11RA; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

March 12, 1996
Changed Entries:: 103500 ALBINISM-DEAFNESS OF TIETZ; 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1a; CMT1A; 134797 FIBRILLIN-1; FBN1; 143110 HLA-F HISTOCOMPATIBILITY TYPE; HLAF; 148820 KLEIN-WAARDENBURG SYNDROME; 154700 MARFAN SYNDROME; MFS; 180849 RUBINSTEIN SYNDROME; 193500 WAARDENBURG SYNDROME; WS1; 208900 ATAXIA-TELANGIECTASIA; AT; 600392 RAD52, YEAST, HUMAN HOMOLOG OF; RAD52; 600638 FIBROSIS, CONGENITAL, OF VERTICALLY ACTING EXTRAOCULAR MUSCLES; 600947 HUNTINGTIN-ASSOCIATED PROTEIN; HAP1; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

March 11, 1996
New Entries:: 601119 CLPP PROTEASE
Changed Entries:: 104230 ALPHA-3-FUCOSYLTRANSFERASE; FCT3A; CD15; 107820 ARGINYL-tRNA SYNTHETASE; RARS; 109535 B-CELL ASSOCIATED MOLECULE CD40; CD40; 113650 BRANCHIOOTORENAL DYSPLASIA; 131230 ENDONEXIN II; ENX2; 131240 ENDOTHELIN-1; EDN1; ET1; 138970 COLONY-STIMULATING FACTOR-3; CSF3; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142946 HOLOPROSENCEPHALY, TYPE 4; HPE4; 157170 MIDLINE CLEFT SYNDROME; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 167770 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A; 167771 PANCREATIC STONE PROTEIN, SECRETORY, 2; PSPS2; 176797 PROMYELOCYTIC LEUKEMIA ZINC FINGER; PLZF; 181500 SCHIZOPHRENIA-2; 194550 ZINC FINGER PROTEIN-42; ZNF42; 202700 AGRANULOCYTOSIS, INFANTILE GENETIC; 236100 HOLOPROSENCEPHALY, FAMILIAL ALOBAR; 236100 HOLOPROSENCEPHALY, FAMILIAL ALOBAR; 301500 ANGIOKERATOMA, DIFFUSE; 311770 PHOSPHATIDYLINOSITOL GLYCAN CLASS A; PIGA; 600270 PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER; PCOLCE; 600379 MYELIN TRANSCRIPTION FACTOR 1; MYT1; 600380 UBIQUITOUSLY EXPRESSED NUCLEAR RECEPTOR; UNR; 600530 SOLUTE CARRIER FAMILY 9, MEMBER A2; SLC9A2; 600531 SOLUTE CARRIER FAMILY 9, ISOFORM A4; SLC9A4; 600892 SINGLE-MINDED DROSOPHILA, HUMAN HOMOLOG OF; SIM; 601104 PROGRESSIVE SUPRANUCLEAR PALSY

March 10, 1996
New Entries:: 601111 NADPH-FLAVIN REDUCTASE; FLR; 601112 THIOREDOXIN REDUCTASE; TXNR; 601113 HEAT SHOCK 70 PROTEIN 4; HSPA4
Changed Entries:: 108725 ATHEROGENIC LIPOPROTEIN PHENOTYPE; ALP; 159440 MYELIN PROTEIN ZERO; MPZ; 166945 MEMBRANE COMPONENT, CHROMOSOME 17, SURFACE MARKER 2; M17S2; 256731 CEROID-LIPOFUSCNOSIS, NEURONAL 5; CLN5; 309550 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28; 516060 COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 6; MTATP6; ATP6; 600019 CYTOCHROME b561; CYB561; 600538 PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT; TDPX1; 600538 PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT; TDPX1; 600548 MORTALIN-2; MOT2; 600735 INTERFERON INDUCIBLE PROTEIN, 35-KD; IFP35; 600747 T-BOX PROTEIN 2; TBX2

March 9, 1996
New Entries:: 601107 MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT; 601108 INTERLEUKIN-1-ASSOCIATED KINASE; IRAK; 601109 SEROTONIN 5-HT-6 RECEPTOR; HTR6; 601110 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV
Changed Entries:: 118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1; 121014 CONNEXIN 43 GAP JUNCTION PROTEIN; CX43; 147421 INCLUSION BODY MYOSITIS; IBM; 147450 SUPEROXIDE DISMUTASE-1; SOD1; 156225 LAMININ, ALPHA 2; LAMA2; 176260 POTASSIUM VOLTAGE-GATED CHANNEL, SHAKER-RELATED SUBFAMILY, MEMBER; 176640 PRION PROTEIN; PRNP; 181500 SCHIZOPHRENIA-2; 186990 T-LYMPHOCYTE SURFACE CD2 ANTIGEN; CD2; 231670 GLUTARICACIDEMIA I; 237500 HYPERBILIRUBINEMIA II; 256730 CEROID-LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1; 260565 PEHO SYNDROME; 304040 CONNEXIN 32 GAP JUNCTION PROTEIN; CX32; 310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600556 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2; 600556 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2; 600557 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 601007 LEPTIN RECEPTOR; OBR; 601109 SEROTONIN 5-HT-6 RECEPTOR; HTR6

March 8, 1996
New Entries:: 601103 MICROFIBRIL-ASSOCIATED GLYCOPROTEIN 2; MAGP2
Changed Entries:: 102642 STEROL O-ACYLTRANSFERASE; SOAT; 156790 MICROFIBRIL-ASSOCIATED PROTEIN 2; MFAP2; 229300 FRIEDREICH ATAXIA; FRDA; 300032 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX; 302800 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1; 601105 CATHEPSIN K; CTSK

March 7, 1996
Changed Entries:: 104613 CHAPERONIN CONTAINING T-COMPLEX SUBUNIT 6; CCT6; 104751 SERUM AMYLOID A, 2; SAA2; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 111300 BLOOD GROUP--MN LOCUS; MN; 111740 BLOOD GROUP--Ss LOCUS; Ss; 112267 BONE MORPHOGENETIC PROTEIN-7; BMP7; 113810 BULLOUS PEMPHIGOID ANTIGEN-1; BPAG1; BP240; 114761 CARBONIC ANHYDRASE V; CA V; CA5; 114850 CARBOXYPEPTIDASE A1; CPA1; 116805 CATENIN, ALPHA 1; CTNNA1; 116957 CELLULAR PROTEIN p107; CP107; 117700 CERULOPLASMIN; CP; 120070 COLLAGEN, TYPE IV, ALPHA-3 CHAIN; COL4A3; 120090 COLLAGEN, TYPE IV, ALPHA-2 CHAIN; COL4A2; 120130 COLLAGEN, TYPE IV, ALPHA-1 CHAIN; COL4A1; 120131 COLLAGEN, TYPE IV, ALPHA-4 CHAIN; COL4A4; 120320 COLLAGEN, TYPE XII, ALPHA-1 CHAIN; COL12A1; 126452 DOPAMINE RECEPTOR D4; DRD4; 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; 164500 OLIVOPONTOCEREBELLAR ATROPHY III; 164761 RET PROTO-ONCOGENE; RET; 164875 ONCOGENE VAV; VAV; 183090 SPINOCEREBELLAR ATROPHY II; 186940 T-CELL ANTIGEN T4/LEU3; CD4; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 266200 PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; 300032 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE; 303630 COLLAGEN, TYPE IV, ALPHA-5 CHAIN; COL4A5; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

March 6, 1996
New Entries:: 601104 PROGRESSIVE SUPRANUCLEAR PALSY; 601105 CATHESPIN K; CTSK; 601106 BB1 GENE; BB1
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 107741 APOLIPOPROTEIN E; APOE; 113705 BREAST CANCER, TYPE 1; BRCA1; 116952 CELL DIVISION CYCLE 42; CDC42; 119530 OROFACIAL CLEFT 1; OFC1; 125310 DEMENTIA, HEREDITARY MULTI-INFARCT TYPE; 130190 ELECTROENCEPHALOGRAPHIC PATTERNS; EEG; 143100 HUNTINGTON DISEASE; HD; 156225 LAMININ, ALPHA 2; LAMA2; 159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT; 160120 MYOKYMIA WITH PERIODIC ATAXIA; 160900 DYSTROPHIA MYOTONICA; DM; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP; 168600 PARKINSONISM; 168600 PARKINSONISM; 170500 PERIODIC PARALYSIS II; 176943 PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14; 183085 SPINOCEREBELLAR ATAXIA 3; SCA3; 219800 CYSTINOSIS, EARLY-ONSET OR INFANTILE NEPHROPATHIC TYPE; 229300 FRIEDREICH ATAXIA; FRDA; FA; 236200 HOMOCYSTINURIA; 236670 HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA; 249100 MEDITERRANEAN FEVER, FAMILIAL; MEF; 253220 MUCOPOLYSACCHARIDOSIS TYPE VII; 253300 SPINAL MUSCULAR ATROPHY I; SMA I; 277900 WILSON DISEASE; WND; 300300 AGAMMAGLOBULINEMIA; 600765 MKN28 KINASE; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

March 5, 1996
New Entries:: 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22
Changed Entries:: 118200 CHARCOT-MARIE-TOOTH DISEASE; CMT1; 118210 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, A; CMT2A; 118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1a; CMT1A; 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS; 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS; 158580 MUSCULAR ATROPHY, DISTAL SPINAL, WITH VOCAL CORD PARALYSIS; 160900 DYSTROPHIA MYOTONICA; DM; 162100 NEURITIS WITH BRACHIAL PREDILECTION; 162375 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING; 170995 PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1; 180630 DEAD/H (ASP-GLU-ALA-ASP/HIS) BOX POLYPEPTIDE 5; DDX5; 180710 RNA, U3 SMALL NUCLEAR; RNU3; 214400 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY; 312080 PROTEOLIPID PROTEIN, MYELIN; PLP; 600326 DEAD/H (ASP-GLU-ALA-ASP/HIS) BOX POLYPEPTIDE 6; DDX6; 600326 DEAD/H (ASP-GLU-ALA-ASP/HIS) BOX POLYPEPTIDE 6; DDX6; 600326 DEAD/H (ASP-GLU-ALA-ASP/HIS) BOX POLYPEPTIDE 6; DDX6; 600361 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES; 600379 MYELIN TRANSCRIPTION FACTOR 1; MYT1; 600630 UV-SENSITIVE SYNDROME; UVS; 600882 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, B; CMT2B; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

March 4, 1996
New Entries:: 601102 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 2; EIF4A2
Changed Entries:: 110700 BLOOD GROUP--DUFFY SYSTEM; Fy; 113811 COLLAGEN, TYPE XVII, ALPHA-1 POLYPEPTIDE; COL17A1; 120110 COLLAGEN, TYPE X, ALPHA 1; COL10A1; 120150 COLLAGEN, TYPE I, ALPHA-1 CHAIN; COL1A1; 120160 COLLAGEN, TYPE I, ALPHA-2 POLYPEPTIDE; COL1A2; 120327 MOVED TO 113811; 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY; 146880 IMMUNE RESPONSE ANTIGENS; HIa; DC1; 147679 IL-1 RECEPTOR ANTAGONIST; IL1RN; 152430 LONGEVITY; 152690 THYROID AUTOANTIGEN 70 KD; G22P1; 152690 THYROID AUTOANTIGEN 70 KD; G22P1; 154700 MARFAN SYNDROME; MFS; 155755 MELANOMA-ASTROCYTOMA SYNDROME; 164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS; 172425 PHOSPHOLIPID TRANSFER PROTEIN; PLTP; 184755 STEROL CARRIER PROTEIN-2; SCP2; 188300 THYMIDINE KINASE, SOLUBLE; TK1; 191092 TUBEROUS SCLEROSIS-2; TSC2; 191100 TUBEROUS SCLEROSIS-1; TSC1; 192090 CADHERIN 1; CDH1; 194364 X-RAY-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER 5; XRCC5; 222600 DIASTROPHIC DYSPLASIA; DTD; 226650 EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE; 232300 GLYCOGEN STORAGE DISEASE II; 245200 KRABBE DISEASE; 264470 PSEUDONEONATAL ADRENOLEUKODYSTROPHY; 276903 MYOSIN VIIA; MYO7A; 300000 OPITZ G/BBB SYNDROME, X-LINKED; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE, INCLUDED; ATP7A; 312080 PROTEOLIPID PROTEIN, MYELIN; PLP; 424500 GONADOBLASTOMA; GBY; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2; 600717 COLLAGEN, TYPE XIX, ALPHA-1 POLYPEPTIDE; COL19A1; 600717 COLLAGEN, TYPE XIX, ALPHA-1 POLYPEPTIDE; COL19A1; 600717 COLLAGEN, TYPE XIX, ALPHA-1 POLYPEPTIDE; COL19A1; 600972 ACHONDROGENESIS, TYPE IB; 601064 BUTYRATE RESPONSE FACTOR 1, BRF1; Clinical Synopsis for 274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, IV

March 3, 1996
New Entries:: 300038 NUCLEOTIDE RECEPTOR, URIDINE; NRU; 601101 OSLER-RANDU-WEBER SYNDROME 3; ORW3
Changed Entries:: 101000 NEUROFIBROMATOSIS, TYPE II; 101200 ACROCEPHALOSYNDACTYLY TYPE I; ACS1; 101600 ACROCEPHALOSYNDACTYLY TYPE V; 101600 ACROCEPHALOSYNDACTYLY TYPE V; ACS5; 106700 ANOMALOUS PULMONARY VENOUS RETURN; APVR; 120140 ALPHA-1(II) COLLAGEN CHAIN; COL2A1; 120140 COLLAGEN, TYPE II, ALPHA-1 CHAIN; COL2A1; 139250 GROWTH HORMONE 1; GH1; 147620 INTERLEUKIN-6; IL6; 176943 PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14; 178640 SURFACTANT-ASSOCIATED PROTEIN, PULMONARY-3; SFTP3; 218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY; 270400 SMITH-LEMLI-OPITZ SYNDROME; 270400 SMITH-LEMLI-OPITZ SYNDROME; 300000 OPITZ BBBG SYNDROME, TYPE I; BBBG1; 304110 CRANIOFRONTONASAL DYSPLASIA; CFND; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

March 1, 1996
New Entries:: 601099 SRC-LIKE ADAPTER; ALA; 601100 STRESS70 PROTEIN CHAPERONE, MICROSOME-ASSOCIATED; STCH
Changed Entries:: 114030 CAFE-AU-LAIT SPOTS, MULTIPLE; CALM; 125480 DEPRESSIVE DISORDER; 136131 FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2; 173110 PITUITARY-SPECIFIC TRANSCRIPTION FACTOR 1; PIT1; 191081 TRYPTASE, BETA; TPS2; 191510 GENE UPSTREAM OF NRAS; 203100 ALBINISM I; 230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE; 239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSPH; NSHPT; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 309200 MANIC-DEPRESSIVE PSYCHOSIS; 309200 MANIC-DEPRESSIVE PSYCHOSIS; 516060 COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 6; MTATP6; ATP6; 530000 KEARNS-SAYRE SYNDROME; KSS; 600380 UBIQUITOUSLY EXPRESSED NUCLEAR RECEPTOR; UNR; 600483 FIBROBLAST GROWTH FACTOR-8; FGF8; 600975 GLAUCOMA, PRIMARY CONGENITAL, TYPE B; GLC3B; 601015 NIEMANN-PICK DISEASE, TYPE C2; NPC2; 601099 SRC-LIKE ADAPTER; SLA; 601100 STRESS70 PROTEIN CHAPERONE, MICROSOME-ASSOCIATED, p60; STCH

Disclaimer | Write to the Help Desk | Privacy Policy
NCBI | NLM | NIH

OMIM Update List for March, 1996

March 31, 1996

March 30, 1996

March 29, 1996

March 28, 1996

March 27, 1996

March 26, 1996

March 25, 1996

March 22, 1996

March 21, 1996

March 20, 1996

March 19, 1996

March 18, 1996

March 15, 1996

March 14, 1996

March 13, 1996

March 12, 1996

March 11, 1996

March 10, 1996

March 9, 1996

March 8, 1996

March 7, 1996

March 6, 1996

March 5, 1996

March 4, 1996

March 3, 1996

March 1, 1996