OMIM Update List for June, 2006

PubMed

Nucleotide

Protein

Genome

OMIM Update List for June, 2006

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June 30, 2006
New Entries:: 300606 HYPODONTIA, X-LINKED; 610226 ZINC FINGER PROTEIN 750; ZNF750; 610227 SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
Changed Entries:: 108770 ATRIAL STANDSTILL; 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5; 180200 RETINOBLASTOMA; RB1; 225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1; 227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D; 300451 ED1 GENE; ED1; 300606 HYPODONTIA, X-LINKED; 600644 POLIOVIRUS RECEPTOR-LIKE 1; PVRL1; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3; 607001 EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1; 607554 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; 608846 CARNITINE PALMITOYLTRANSFERASE IC; CPT1C

June 29, 2006
New Entries:: 300605 RETINITIS PIGMENTOSA 34; 610219 PEJVAKIN; 610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59; 610224 SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN; 610225 RIBOSOMAL PROTEIN S19 BINDING PROTEIN 1; RPS19BP1
Changed Entries:: 123740 CRYSTALLIN, MU; CRYM; 138470 COMPLEMENT FACTOR B; CFB; 139310 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE; 139311 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE; 217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2; 219700 CYSTIC FIBROSIS; CF; 261600 PHENYLKETONURIA; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 609834 SET AND MARINER TRANSPOSASE DOMAINS-CONTAINING PROTEIN; SETMAR; 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11;; 610215 RAC- AND CDC42-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR

June 28, 2006
New Entries:: 610215 RAC- AND CDC42-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR; 610216 TRANSMEMBRANE PROTEIN 16H; TMEM16H; 610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED; 610218 SAP30-BINDING PROTEIN; SAP30BP
Changed Entries:: 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 114480 BREAST CANCER; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 123740 CRYSTALLIN, MU; CRYM; 156850 MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1; 158350 COWDEN DISEASE; CD; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2; 213400 CEREBELLOPARENCHYMAL DISORDER V; CPD5; 256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1; 302300 MICROPHTHALMIA, ISOLATED, WITH CATARACT 3; MCOPCT3; 312865 SHORT STATURE HOMEOBOX; SHOX; 601329 LIM DOMAIN KINASE 1; LIMK1; 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6; 604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL; 607317 SPINOCEREBELLAR ATAXIA WITH SACCADIC INTRUSIONS; SCASI; 608395 KARAK SYNDROME; 608542 ANEURYSM, INTRACRANIAL BERRY, 2; 609122 ANEURYSM, INTRACRANIAL BERRY, 3; 610164 MICRO RNA 134; MIRN134; 610213 ANEURYSM, INTRACRANIAL BERRY, 4

June 27, 2006
New Entries:: 610212 DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66; 610213 ANEURYSM, INTRACRANIAL BERRY, 4; 610214 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE
Changed Entries:: 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 113970 BURKITT LYMPHOMA; BL; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 120700 COMPLEMENT COMPONENT 3; C3; 133430 ESTROGEN RECEPTOR 1; ESR1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 182290 SMITH-MAGENIS SYNDROME; SMS; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 213100 CEREBELLOPARENCHYMAL DISORDER II; CPD2; 213300 JOUBERT SYNDROME 1; JBTS1; 600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2; 601663 ESTROGEN RECEPTOR 2; ESR2; 605341 PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, ALPHA; PILRA; 605342 PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, BETA; PILRB; 606925 G PROTEIN-COUPLED RECEPTOR 103; GPR103; 607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE; 607642 RETINOIC ACID-INDUCED GENE 1; RAI1; 607673 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE; 607978 SAM DOMAIN, SH3 DOMAIN, AND NUCLEAR LOCALIZATION SIGNALS 1; SAMSN1; 609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3, CHILDHOOD-ONSET; SCAR3; 609795 NEUROPEPTIDE RF-AMIDE PEPTIDE PRECURSOR; Clinical Synopsis for 221800 DERMOCHONDROCORNEAL DYSTROPHY

June 26, 2006
New Entries:: 610210 MAF1, S. CEREVISIAE, HOMOLOG OF; MAF1; 610211 SRA STEM LOOP-INTERACTING RNA-BINDING PROTEIN
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 120520 MEMBRANE METALLOENDOPEPTIDASE; MME; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 151570 LEUKOTRIENE A4 HYDROLASE; LTA4H; 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5; 158700 MOVED TO 105400; 168610 MOVED TO 600274; 176975 PROTEIN KINASE C, EPSILON; PRKCE; 184429 SRY-BOX 2; SOX2; 256851 MOVED TO 256850; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1; 601241 HISTONE DEACETYLASE 1; HDAC1; 601408 HISTONE ACETYLTRANSFERASE MYST3; MYST3; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1; 602234 CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9; 603901 ZINC FINGER PROTEIN 259; ZNF259; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3; 608346 MOVED TO 236670; 609590 QUAKING, MOUSE, HOMOLOG OF; QKI; 610211 SRA STEM LOOP-INTERACTING RNA-BINDING PROTEIN; Clinical Synopsis for 158700 MOVED TO 105400; Clinical Synopsis for 168610 MOVED TO 600274; Clinical Synopsis for 188000 THROMBOCYTOPENIA 2; THC2; Clinical Synopsis for 218330 CRANIOECTODERMAL DYSPLASIA; Clinical Synopsis for 221800 DERMOCHONDROCORNEAL DYSTROPHY; Clinical Synopsis for 256851 MOVED TO 256850; Clinical Synopsis for 608346 MOVED TO 236670

June 23, 2006
New Entries:: 300604 PREMATURE OVARIAN FAILURE 2B; POF2B; 610207 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 9; SLC4A9; 610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10; 610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11
Changed Entries:: 102770 ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 113705 BREAST CANCER 1 GENE; BRCA1; 115501 TYROSINASE-RELATED PROTEIN 1; TYRP1; 118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1; 118444 CHOLECYSTOKININ A RECEPTOR; CCKAR; 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD; 118955 CLATHRIN, HEAVY POLYPEPTIDE; CLTC; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 120355 MATRIX METALLOPROTEINASE 8; MMP8; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 124900 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1; 128200 PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC; 134600 FANCONI RENOTUBULAR SYNDROME; 134797 FIBRILLIN 1; FBN1; 138160 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 140340 HAW RIVER SYNDROME; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 146790 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR; FCGR2A; 147421 INCLUSION BODY MYOSITIS; 147796 JANUS KINASE 2; JAK2; 156225 LAMININ, ALPHA-2; LAMA2; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 270200 SJOGREN-LARSSON SYNDROME; SLS; 277900 WILSON DISEASE; 300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2; 300511 PREMATURE OVARIAN FAILURE 2A; POF2A; 300603 ACTIN-BINDING PROTEIN, 34-KD; 300604 PREMATURE OVARIAN FAILURE 2B; POF2B; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 600687 T-CELL LYMPHOMA INVASION AND METASTASIS 1; TIAM1; 601626 LEUKEMIA, ACUTE MYELOID; AML; 601855 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARHGEF1; 602000 POLYMERASE I, RNA, SUBUNIT B; POLR1B; 602587 ACYL-CoA THIOESTERASE 7; ACOT7; 602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7; 602821 KINESIN FAMILY MEMBER 5A; KIF5A; 603149 INTERLEUKIN 17; IL17; 603816 AXIS INHIBITOR 1; AXIN1; 604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10; 606212 SIRTUIN 7; SIRT7; 606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3; 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A; 607864 CAUDAL DUPLICATION ANOMALY; 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2; 608996 PREMATURE OVARIAN FAILURE 3; POF3; 609023 MYOFIBRILLOGENESIS REGULATOR 1

June 22, 2006
New Entries:: 300603 PREMATURE OVARIAN FAILURE 1B GENE; POF1B; 610204 OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET; 610205 ALAGILLE SYNDROME 2; AGS2; 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER
Changed Entries:: 109200 ALOPECIA, ANDROGENETIC; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 118450 ALAGILLE SYNDROME 1; AGS1; 118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 124040 CYTOCHROME P450, SUBFAMILY IIE; CYP2E; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 133020 ERYTHERMALGIA, PRIMARY; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 170100 PEPTIDASE D; PEPD; 174763 POLYMERASE, DNA, GAMMA; POLG; 177075 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG; MAF; 184429 SRY-BOX 2; SOX2; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY; 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; 209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL; 225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA; 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; 241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 264090 PROGEROID SYNDROME, NEONATAL; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA; 277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2; 300017 FILAMIN A; FLNA; 300511 PREMATURE OVARIAN FAILURE 2; POF2; 300603 PREMATURE OVARIAN FAILURE 1B GENE; POF1B; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2; 601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1; 601808 CHROMOSOME 18q DELETION SYNDROME; 601920 JAGGED 1; JAG1; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 607397 MELANOCORTIN 2 RECEPTOR; MC2R; 607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; 610205 ALAGILLE SYNDROME 2; AGS2; Clinical Synopsis for 254600 MYELOPEROXIDASE DEFICIENCY

June 21, 2006
New Entries:: 610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; 610200 MITOCHONDRIAL RIBOSOMAL PROTEIN L13; MRPL13; 610201 KIAA1009 GENE; KIAA1009; 610202 CATARACT, PULVERULENT, JUVENILE-ONSET; 610203 CYSTEINE-RICH INHIBITOR OF PAK1
Changed Entries:: 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 113703 RIBOSOMAL PROTEIN L13; RPL13; 115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 123620 CRYSTALLIN, BETA-B2; CRYBB2; 132880 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 6; NR2F6; 138295 GLUTAMYL-PROLYL-tRNA SYNTHETASE; EPRS; 142700 ACETABULAR DYSPLASIA; 144110 HYPERHIDROSIS PALMARIS ET PLANTARIS; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 168610 MOVED TO 600274; 171200 THIOUREA TASTING; 177075 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG; MAF; 208540 ASPLENIA WITH CYSTIC LIVER, KIDNEY, AND PANCREAS; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 235730 MOWAT-WILSON SYNDROME; 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1; BRIC1; 271550 SPONDYLOENCHONDRODYSPLASIA; 300487 ACTIN-RELATED PROTEIN T1; ACTRT1; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600274 FRONTOTEMPORAL DEMENTIA; 601174 IMIDAZOLINE RECEPTOR; 601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2; 601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2; 602358 HYPOCRETIN; HCRT; 602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1; 603201 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11; ABCB11; 603757 CHEMOKINE, CC MOTIF, LIGAND 18; CCL18; 605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2; 607060 PARKINSON DISEASE 8; PARK8; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL; 608535 ACTIN-RELATED PROTEIN T2; ACTRT2; 608983 CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3; 608993 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3F;; 609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; 609513 NEUROPEPTIDE S; 610187 DIAPHRAGMATIC HERNIA 3; 610192 GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3

June 20, 2006
New Entries:: 610187 DIAPHRAGMATIC HERNIA 3
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 106150 ANGIOTENSIN I; AGT; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 140050 GRANZYME A; GZMA; 142340 DIAPHRAGMATIC HERNIA 1; DIH1; 142700 ACETABULAR DYSPLASIA; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1; 158700 MOVED TO 105400; 165720 OSTEOARTHRITIS; 167770 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A; 167771 REGENERATING ISLET-DERIVED 1-BETA; REG1B; 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1; 178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD; 182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3; 182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 208900 ATAXIA-TELANGIECTASIA; AT; 218040 COSTELLO SYNDROME; 222400 DIAPHRAGMATIC HERNIA 2; DIH2; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 306700 HEMOPHILIA A; 314690 SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX; 600016 CONTACTIN 1; CNTN1; 600434 FATTY ACID-BINDING PROTEIN 4; FABP4; 600960 SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED; SET; 601768 SH3 DOMAIN, GRB2-LIKE, 1; SH3GL1; 602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1; 603073 ZINC FINGER PROTEIN OF CEREBELLUM, 2; ZIC2; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2; 603757 CHEMOKINE, CC MOTIF, LIGAND 18; CCL18; 603903 SICKLE CELL ANEMIA; 605580 INTERLEUKIN 23-ALPHA; IL23A; 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2; 607464 THYROID CARCINOMA, HURTHLE CELL; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608031 AMYOTROPHIC LATERAL SCLEROSIS 7; 609582 MICRO RNA 122A; MIRN122A

June 19, 2006
New Entries:: 610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
Changed Entries:: 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1; 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC; 201810 ADRENAL HYPERPLASIA II; 222300 WOLFRAM SYNDROME; 250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; 250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV; 258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III; 300384 EMERIN; EMD; 302060 BARTH SYNDROME; BTHS; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2; 600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 603811 BARRIER-TO-AUTOINTEGRATION FACTOR 1; BANF1; 603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4; 606201 WFS1 GENE; WFS1; 608977 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 19; DNAJC19

June 16, 2006
New Entries:: 610181 AICARDI-GOUTIERES SYNDROME 2; AGS2; 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION; 610194 BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 2; B3GALNT2; 610195 PROSTATE TUMOR OVEREXPRESSED GENE 1; PTOV1; 610196 ELMO DOMAIN-CONTAINING PROTEIN 2; ELMOD2; 610197 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 25, S. CEREVISIAE,
Changed Entries:: 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 122560 CORTICOTROPIN-RELEASING HORMONE; CRH; 158350 COWDEN DISEASE; CD; 159900 MYOCLONIC DYSTONIA; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 162323 TACHYKININ RECEPTOR 1; TACR1; 162650 NEUROTENSIN; NTS; 177010 PROTEASE INHIBITOR 7; PI7; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 209850 AUTISM; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS; 312750 RETT SYNDROME; RTT; 600104 SYNAPTOTAGMIN 2; SYT2; 601873 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B4GALNT1; 602861 PLAKOPHILIN 2; PKP2; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603094 BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B3GALNT1; 604149 SARCOGLYCAN, EPSILON; SGCE; 604200 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 5; SIGLEC5; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 605264 SORBIN AND SH3 DOMAIN CONTAINING 1; SORBS1; 606998 FLOTILLIN 1; FLOT1; 609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9; 609160 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5; CCT5; 610195 PROSTATE TUMOR OVEREXPRESSED GENE 1; PTOV1

June 15, 2006
New Entries:: 610191 CARBOHYDRATE SULFOTRANSFERASE 9; CHST9; 610192 GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3; 610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
Changed Entries:: 107777 AQUAPORIN 2; AQP2; 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 125671 DESMOGLEIN 2; DSG2; 143054 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 2; HIVEP2; 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP; 147521 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE A; ITPKA; 150570 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 1; LGALS1; 171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4; 181590 SCL-INTERRUPTING LOCUS; SIL; 210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1; 214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1; BRIC1; 243305 INVERSIN; INVS; 301500 FABRY DISEASE; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 601265 NODAL, MOUSE, HOMOLOG OF; NODAL; 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2; 601656 GATA-BINDING PROTEIN 6; GATA6; 601663 ESTROGEN RECEPTOR 2; ESR2; 601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2; 601877 LEFT-RIGHT DETERMINATION FACTOR 2; LEFTY2; 602001 NEUROPEPTIDE Y RECEPTOR Y5; NPY5R; 602229 SRY-BOX 10; SOX10; 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3; 602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1; 602645 SEMAPHORIN 3C; SEMA3C; 602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1; 603037 LEFT-RIGHT DETERMINATION FACTOR 1; LEFTY1; 603201 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11; ABCB11; 603754 KINESIN FAMILY MEMBER 3B; KIF3B; 603959 CLAUDIN 16; CLDN16; 604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4; 604172 CARONTE; 604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR; 604613 T-BOX 18; TBX18; 605194 CRYPTIC PROTEIN; CFC1; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 605734 TRANSMEMBRANE PROTEIN WITH EGF-LIKE AND 2 FOLLISTATIN-LIKE DOMAINS; 608420 PANNEXIN 1; PANX1; 608539 GLIS FAMILY ZINC FINGER PROTEIN 2; GLIS2; 609337 BIC GENE; 609918 GALLBLADDER DISEASE 2; 609919 GALLBLADDER DISEASE 3; 610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610190 CARBOHYDRATE SULFOTRANSFERASE 8; CHST8

June 14, 2006
New Entries:: 610188 JOUBERT SYNDROME 5; JBTS5; 610189 SENIOR-LOKEN SYNDROME 6; SLSN6; 610190 CARBOHYDRATE SULFOTRANSFERASE 8; CHST8
Changed Entries:: 109700 BETA-2-MICROGLOBULIN; B2M; 188400 DIGEORGE SYNDROME; DGS; 192430 VELOCARDIOFACIAL SYNDROME; 213300 JOUBERT SYNDROME 1; JBTS1; 214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; 235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; 241600 HYPOPROTEINEMIA, HYPERCATABOLIC; 266900 SENIOR-LOKEN SYNDROME 1; SLSN1; 600074 CD24 ANTIGEN; CD24; 600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A; 601172 CHONDROITIN SULFATE PROTEOGLYCAN 4; CSPG4; 601407 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2; 602054 T-BOX 1; TBX1; 602055 INSULIN-INDUCED GENE 1; INSIG1; 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1; 602598 PROSTAGLANDIN D2 SYNTHASE, HEMATOPOIETIC; 603526 METASTASIS-ASSOCIATED GENE 1; MTA1; 603711 CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1; 604270 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 4; LRP4; 604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR; 604491 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE B; CBLB; 604687 PROSTAGLANDIN D2 RECEPTOR; PTGDR; 604741 ALDO-KETO REDUCTASE FAMILY 1, MEMBER D1; AKR1D1; 605117 SUPPRESSOR OF CYTOKINE SIGNALING 2; SOCS2; 605734 TRANSMEMBRANE PROTEIN WITH EGF-LIKE AND 2 FOLLISTATIN-LIKE DOMAINS; 606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2; 606607 PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7; 607100 NEPHROCYSTIN; NPHP1; 607470 BREAST CARCINOMA AMPLIFIED SEQUENCE 3; BCAS3; 607764 3-@BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE; HSD3B7; 607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; 607818 ZINC FINGER PROTEIN 365; ZNF365; 608537 VHL GENE; VHL; 608660 INSULIN-INDUCED GENE 2; INSIG2; 608707 CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON; 610133 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610190 CARBOHYDRATE SULFOTRANSFERASE 8; CHST8

June 13, 2006
New Entries:: 610182 PALMDELPHIN; PALMD; 610183 ZINC FINGER, A20 DOMAIN CONTAINING 3; ZA20D3; 610184 MONOACYLGLYCEROL O-ACYLTRANSFERASE 3; MOGAT3; 610186 DEUBIQUITINATING ENZYME 3
Changed Entries:: 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 126451 DOPAMINE RECEPTOR D3; DRD3; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 173470 INTEGRIN, BETA-3; ITGB3; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 243305 INVERSIN; INVS; 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI; 300295 ONCOGENE PIM2; PIM2; 300392 WAS GENE; WAS; 301000 WISKOTT-ALDRICH SYNDROME; WAS; 304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED; 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS; 308840 L1 CELL ADHESION MOLECULE; L1CAM; 604214 KREV INTERACTION TRAPPED 1; KRIT1; 604582 A-KINASE ANCHOR PROTEIN 2; AKAP2

June 12, 2006
New Entries:: 610143 DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62; 610154 DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44; 610176 SECRETOGLOBIN, FAMILY 1C, MEMBER 1; SCGB1C1; 610177 INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 1; ISG20L1; 610178 KIAA0586 GENE; KIAA0586; 610179 PHOSPHOLIPASE B1; PLB1; 610180 OSTEOCLAST-STIMULATING FACTOR 1; OSTF1; Clinical Synopsis for 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN; Clinical Synopsis for 606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME
Changed Entries:: 104614 SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID; 107741 APOLIPOPROTEIN E; APOE; 117000 CENTRAL CORE DISEASE OF MUSCLE; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 143100 HUNTINGTON DISEASE; HD; 144100 HYPERHIDROSIS, GUSTATORY; 148069 KERATIN 17; KRT17; 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; 180901 RYANODINE RECEPTOR 1; RYR1; 184850 STIFF-PERSON SYNDROME; SPS; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 209900 BARDET-BIEDL SYNDROME; BBS; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 232300 GLYCOGEN STORAGE DISEASE II; 238300 GLYCINE DECARBOXYLASE; GLDC; 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15; 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN; 306995 HOMOSEXUALITY 1; HMS1; 426000 SELECTED cDNA ON Y, MOUSE, HOMOLOG OF; SMCY; 600374 BBS4 GENE; BBS4; 601408 HISTONE ACETYLTRANSFERASE MYST3; MYST3; 602143 TUMOR PROTEIN p53-BINDING PROTEIN 2; TP53BP2; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1; 602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603770 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1B; PPM1B; 603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1; 604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5; 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1; 605204 TORSIN-A; DYT1; 606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES; 606500 SECRETOGLOBIN, FAMILY 3A, MEMBER 1; SCGB3A1; 606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME; 606531 SECRETOGLOBIN, FAMILY 3A, MEMBER 2; SCGB3A2; 606847 TCOF1 GENE; 607379 NEUROFIBROMIN 2; NF2; 607436 POLY(A) POLYMERASE, BETA; PAPOLB; 608088 NEUROPATHY, HEREDITARY SENSORY, TYPE I, WITH COUGH AND GASTROESOPHAGEAL; 608112 TRAFFICKING PROTEIN, KINESIN-BINDING 1; TRAK1; 608434 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 1; GIT1; 610177 INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 1; ISG20L1; Clinical Synopsis for 113470 BRACHYMESOMELIA-RENAL SYNDROME; Clinical Synopsis for 140350 HAWKINSINURIA; Clinical Synopsis for 200700 CHONDRODYSPLASIA, GREBE TYPE; Clinical Synopsis for 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2; Clinical Synopsis for 259610 OSTEOLYSIS SYNDROME, RECESSIVE; Clinical Synopsis for 276710 TYROSINEMIA, TYPE III; Clinical Synopsis for 313900 THROMBOCYTOPENIA 1; THC1; Clinical Synopsis for 600373 CODAS SYNDROME; Clinical Synopsis for 601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12; Clinical Synopsis for 601560 MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE

June 9, 2006
New Entries:: 610171 CALMODULIN-LIKE 6; CALML6; 610172 KPL2 GENE; 610173 MICRO RNA 10A; MIRN10A; 610174 DENDRITIC CELL UBIQUITIN-LIKE PROTEIN; 610175 MICRO RNA 130A; MIRN130A
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3; 142950 HOMEOBOX A7; HOXA7; 147796 JANUS KINASE 2; JAK2; 156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR; 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2; 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 227400 FACTOR V DEFICIENCY; 300000 OPITZ SYNDROME; 300017 FILAMIN A; FLNA; 300126 DYSKERIN; DKC1; 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; 311040 ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1; 600658 PROTEIN PHOSPHATASE 5, CATALYTIC SUBUNIT; PPP5C; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1; 602568 METHIONINE SYNTHASE REDUCTASE; MTRR; 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B; 603324 GAP JUNCTION PROTEIN, BETA-3; GJB3; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A; 605469 JUMONJI DOMAIN-CONTAINING PROTEIN 2C; JMJD2C; 606709 PROTEASE, SERINE, 12; PRSS12; 608968 V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B;; 609420 MICRO RNA 20; MIRN20; 609765 JUMONJI DOMAIN-CONTAINING PROTEIN 2B; JMJD2B; 610046 LAEVERIN; 610171 CALMODULIN-LIKE 6; CALML6; 610173 MICRO RNA 10A; MIRN10A

June 8, 2006
New Entries:: 610167 PHOSPHOHISTIDINE PHOSPHATASE 1; PHPT1; 610168 FURLONG SYNDROME: FS; 610169 INO80 COMPLEX HOMOLOG 1; INOC1; 610170 KYPHOSCOLIOSIS 1
Changed Entries:: 113710 TREFOIL FACTOR 1; TFF1; 133430 ESTROGEN RECEPTOR 1; ESR1; 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E; 134797 FIBRILLIN 1; FBN1; 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3; 156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1; 156491 NONMETASTATIC CELLS 2, PROTEIN EXPRESSED IN; NME2; 156790 MICROFIBRIL-ASSOCIATED PROTEIN 2; MFAP2; 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 191060 TRYPTOPHAN HYDROXYLASE 1; TPH1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 300255 O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT; 300272 HISTONE DEACETYLASE 6; HDAC6; 600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 1; EIF4G1; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 600848 NUCLEAR RECEPTOR COREPRESSOR 2; NCOR2; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 602302 HAIRLESS, MOUSE, HOMOLOG OF; HR; 602505 PAXILLIN; PXN; 605692 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7;; 605792 TESTIS-EXPRESSED GENE 14; TEX14; 609602 ZINC FINGER PROTEIN 393; ZNF393; 610167 PHOSPHOHISTIDINE PHOSPHATASE 1; PHPT1; 610168 FURLONG SYNDROME: FS

June 7, 2006
New Entries:: 300602 CLARK-BARAITSER SYNDROME; 610163 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA; 610164 MICRO RNA 134; MIRN134; 610165 GLYCOSYLTRANSFERASE-LIKE DOMAIN-CONTAINING 1; GTDC1; 610166 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 1; IQSEC1
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107265 CD19 ANTIGEN; CD19; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 116952 CELL DIVISION CYCLE 42; CDC42; 120105 COLIPASE, PANCREATIC; CLPS; 123831 CYCLIN-DEPENDENT KINASE 5; CDK5; 123837 CYCLIN E1; CCNE1; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2; 138030 GLUCAGON; GCG; 142710 HISTONE 1, H1C; HIST1H1C; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 179503 RAS-RELATED ASSOCIATED WITH DIABETES; RRAD; 186780 CD247 ANTIGEN; CD247; 191290 TYROSINE HYDROXYLASE; TH; 193001 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 2; SLC18A2; 193002 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 1; SLC18A1; 300431 ATKIN-FLAITZ SYNDROME; 300602 CLARK-BARAITSER SYNDROME; 600277 INHIBITOR OF DNA BINDING 3; ID3; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2; 601047 CAVEOLIN 1; CAV1; 601121 PLACENTAL GROWTH FACTOR; PGF; 601329 LIM DOMAIN KINASE 1; LIMK1; 601997 BH3-INTERACTING DOMAIN DEATH AGONIST; BID; 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1; 602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8; 603370 UDP-GLUCOSE DEHYDROGENASE; UGDH; 603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6; 603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3; 603749 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2;; 603775 CYCLIN E2; CCNE2; 604423 PANCREATIC LIPASE-RELATED PROTEIN 2; PNLIPRP2; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605030 SERINE/THREONINE PROTEIN KINASE 3; STK3; 606274 CASEIN KINASE I, GAMMA-1; CSNK1G1; 606389 CATION CHANNEL, SPERM-ASSOCIATED, 1; CATSPER1; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608520 MAJOR DEPRESSIVE DISORDER 1; 609357 MINICHROMOSOME MAINTENANCE 10, S. CEREVISIAE, HOMOLOG OF; MCM10; 610163 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA; 610164 MICRO RNA 134; MIRN134; 610165 GLYCOSYLTRANSFERASE-LIKE DOMAIN-CONTAINING 1; GTDC1

June 6, 2006
New Entries:: 610161 TRANSCRIPTION FACTOR AP2-DELTA; TFAP2D; 610162 COILED-COIL DOMAIN-CONTAINING PROTEIN 28B; CCDC28B; Clinical Synopsis for 609820 ERYTHROCYTOSIS, FAMILIAL, 3; Clinical Synopsis for 610099 MYOPATHY, DISTAL 3; MPD3; Clinical Synopsis for 610100 GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT
Changed Entries:: 107265 CD19 ANTIGEN; CD19; 107777 AQUAPORIN 2; AQP2; 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 147575 INTERFERON REGULATORY FACTOR 1; IRF1; 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; 157130 MICROTUBULE-ASSOCIATED PROTEIN 2; MAP2; 168461 CYCLIN D1; CCND1; 176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A; PAPPA; 180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG; 186690 REMOVED FROM DATABASE; 186740 CD3 ANTIGEN, GAMMA SUBUNIT; CD3G; 189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB; 209900 BARDET-BIEDL SYNDROME; BBS; 300339 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, BETA; PPP2R3B; 309400 MENKES DISEASE; 600050 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 11; MAP3K11; 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25; 600336 SOLUTE CARRIER FAMILY 18 (VESICULAR ACETYLCHOLINE), MEMBER 3; SLC18A3; 600442 AQUAPORIN 5; AQP5; 600682 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 600754 MATRIX METALLOPROTEINASE 14; MMP14; 601179 RAS-RELATED NUCLEAR PROTEIN; RAN; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 602115 FIBROBLAST GROWTH FACTOR 10; FGF10; 602504 SHORT STATURE HOMEOBOX 2; SHOX2; 602587 ACYL-CoA THIOESTERASE 7; ACOT7; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 602738 KARYOPHERIN BETA-1; KPNB1; 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,; 603316 CYTIDINE 5-PRIME-MONOPHOSPHATE N-ACETYLNEURAMINIC ACID SYNTHETASE;; 603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1; 603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A; 603951 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY; 604215 INHIBITOR OF GROWTH 2; ING2; 604456 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 1; IFITM1; 604944 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, ALPHA; PPP2R3A; 605427 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4;; 607425 GAP JUNCTION PROTEIN, CHI-1; GJC1; 608123 ACYL-CoA THIOESTERASE 8; ACOT8; 608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2; 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR; 609972 ACYL-CoA THIOESTERASE 2; ACOT2; 610159 ZINC FINGER PROTEIN 366; ZNF366; 610161 TRANSCRIPTION FACTOR AP2-DELTA; TFAP2D; Clinical Synopsis for 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE; Clinical Synopsis for 133100 ERYTHROCYTOSIS, FAMILIAL, 1; Clinical Synopsis for 160565 MYOPATHY, TUBULAR AGGREGATE; Clinical Synopsis for 169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT; Clinical Synopsis for 193530 WEYERS ACROFACIAL DYSOSTOSIS; Clinical Synopsis for 241600 HYPOPROTEINEMIA, HYPERCATABOLIC; Clinical Synopsis for 245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT; Clinical Synopsis for 256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA; Clinical Synopsis for 256850 GIANT AXONAL NEUROPATHY 1; GAN1; Clinical Synopsis for 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY; Clinical Synopsis for 600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS; Clinical Synopsis for 603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A; Clinical Synopsis for 607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I

June 5, 2006
New Entries:: 610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49; 610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS; 610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 120252 COLLAGEN, TYPE VIII, ALPHA-2; COL8A2; 122400 CORNEAL EROSIONS, RECURRING HEREDITARY; 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8; 123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9; 126450 DOPAMINE RECEPTOR D2; DRD2; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147796 JANUS KINASE 2; JAK2; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164180 OCULOCEREBROCUTANEOUS SYNDROME; 165161 ONCOGENE JUN-B; JUNB; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; 230900 GAUCHER DISEASE, TYPE II; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300017 FILAMIN A; FLNA; 300212 REGUCALCIN; RGN; 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; 309350 MELNICK-NEEDLES SYNDROME; MNS; 309850 MONOAMINE OXIDASE A; MAOA; 311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1; 312750 RETT SYNDROME; RTT; 314690 SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600876 SYNTAXIN 3A; STX3A; 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1; 601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602627 CELL DIVISION CYCLE 18, S. POMBE, HOMOLOG-LIKE; CDC18L; 602716 NEPHRIN; NPHS1; 603424 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT; 603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4; 605364 PSORIASIS SUSCEPTIBILITY 6; 605366 OLFACTOMEDIN 1; OLFM1; 606539 MYOSIN ID; MYO1D; 607567 OLFACTOMEDIN 3; OLFM3; 610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2

June 4, 2006
Changed Entries:: 176915 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA; 609168 SHUGOSHIN-LIKE 1; SGOL1

June 3, 2006
Changed Entries:: 601210 POLY(rC)-BINDING PROTEIN 2; PCBP2; 604538 KINESIN FAMILY MEMBER 2C; KIF2C; 606951 INTERFERON INDUCED WITH HELICASE C DOMAIN PROTEIN 1; IFIH1; 607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11; 609631 DEAD/H BOX 58; DDX58

June 2, 2006
New Entries:: 610157 HEAT-SHOCK RNA 1; 610159 ZINC FINGER PROTEIN 366; ZNF366; 610160 ZINC FINGER PROTEIN 367; ZNF367
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 107200 ANOSMIA, CONGENITAL; 107273 CD69 ANTIGEN; CD69; 107741 APOLIPOPROTEIN E; APOE; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 124092 INTERLEUKIN 10; IL10; 130590 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-1; EEF1A1; 134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1; 146110 HYPOGONADOTROPIC HYPOGONADISM; 147310 CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10; 147950 KALLMANN SYNDROME 2; KAL2; 148069 KERATIN 17; KRT17; 156850 MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1; 156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 167414 PAIRED BOX GENE 5; PAX5; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2; 251500 MICROPHTHALMIA AND MENTAL DEFICIENCY; 251505 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2; 300485 BCL6 COREPRESSOR; BCOR; 300556 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2; 302300 MICROPHTHALMIA, ISOLATED, WITH CATARACT 3; MCOPCT3; 309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1; 310600 NORRIE DISEASE; ND; 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600167 HISTAMINE RECEPTOR H1; HRH1; 600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14; 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25; 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1; 601278 FSHD GENE 1; FRG1; 602253 KRUPPEL-LIKE FACTOR 4; KLF4; 602544 PARKIN; PARK2; 602978 POLYHOMEOTIC-LIKE 1; PHC1; 602979 POLYHOMEOTIC-LIKE 2; PHC2; 603186 DEATH-ASSOCIATED PROTEIN 6; DAXX; 603347 NEURONAL PAS DOMAIN PROTEIN 2; NPAS2; 603566 PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1; 603779 SYNUCLEIN-ALPHA-INTERACTING PROTEIN; SNCAIP; 605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3; 605984 EMBRYONIC ECTODERM DEVELOPMENT PROTEIN, MOUSE, HOMOLOG OF; EED; 606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2; 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12; 607207 STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1; 607572 LEPROSY, SUSCEPTIBILITY TO, 2; 608427 PARKIN COREGULATED GENE; PACRG; 608985 RING FINGER PROTEIN 2; RNF2; 609032 FSHD GENE 2; 609169 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, SPERMATOGENIC; GAPDHS; 610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5; CCT5; 610151 METHIONYL AMINOPEPTIDASE 1; METAP1; Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE; Clinical Synopsis for 300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2; Clinical Synopsis for 600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS

June 1, 2006
New Entries:: 610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3; 610093 MICROPHTHALMIA, ISOLATED 2; MCOP2; 610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5; 610126 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6; 610140 HEART-HAND SYNDROME, SLOVENIAN TYPE; 610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19
Changed Entries:: 103280 H19 GENE; H19; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT; 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10; 147138 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 2; MS4A2; 147140 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, ALPHA SUBUNIT;; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; 153430 LYMPHOCYTE CYTOSOLIC PROTEIN 1; LCP1; 156850 MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1; 156900 MICROPHTHALMIA AND CORECTOPIA; MCOPCR; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 168450 PARATHYROID HORMONE; PTH; 168600 PARKINSON DISEASE; PD; 176807 PROSTATE CANCER; 184429 SRY-BOX 2; SOX2; 186940 CD4 ANTIGEN; CD4; 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; 212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2; 235550 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI; 251505 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4; 251600 MICROPHTHALMIA, ISOLATED 1; MCOP1; 300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2; 300345 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1; MCOPCB1; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 300412 MOVED TO 300166; 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1; 300485 BCL6 COREPRESSOR; BCOR; 301590 MICROPHTHALMIA, SYNDROMIC 4; MCOPS4; 302200 CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES;; 302300 MICROPHTHALMIA, ISOLATED, WITH CATARACT 3; MCOPCT3; 309500 RENPENNING SYNDROME 1; RENS1; 309700 MOVED TO 310600; 309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1; 309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7; 310600 NORRIE DISEASE; ND; 590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1; 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600992 MOVED TO 206900; 601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601544 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3; 601564 PROTEASE, SERINE, 2; PRSS2; 601665 OBESITY; 602943 RAR-RELATED ORPHAN RECEPTOR C; RORC; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604167 CCCTC-BINDING FACTOR; CTCF; 604219 CATARACT, AUTOSOMAL DOMINANT; 604457 NUCLEAR BODY PROTEIN SP110; SP110; 605551 NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN; NOS1AP; 605738 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 2; MCOPCB2; 605930 SORTING NEXIN 3; SNX3; 605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15; 606283 SORCS RECEPTOR 1; SORCS1; 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6; 606344 POLYMERASE, DNA, MU; POLM; 606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2; 606951 INTERFERON INDUCED WITH HELICASE C DOMAIN PROTEIN 1; IFIH1; 607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; 608660 INSULIN-INDUCED GENE 2; INSIG2; 610091 WD REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; WSB1; 610141 QT INTERVAL, VARIATION IN; 610148 CHROMOSOME 12 OPEN READING FRAME 58; C12ORF58; 610149 LOCUS 387715

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OMIM Update List for June, 2006

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