OMIM Update List for September, 2006

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Protein

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OMIM Update List for September, 2006

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September 29, 2006
New Entries:: 610458 LEUCINE ZIPPER AND CTNNBIP1 DOMAINS-CONTAINING PROTEIN; LZIC
Changed Entries:: 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 153100 LYMPHEDEMA, HEREDITARY, I; 180200 RETINOBLASTOMA; RB1; 238500 HYPERLIPIDEMIA, TYPE V; 601569 UBIQUITIN-CONJUGATING ENZYME E2G 1; UBE2G1; 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE; SGK; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603124 UBIQUITIN-CONJUGATING ENZYME E2G 2; UBE2G2; 603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4; 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+; 610450 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; LYPD1; 610457 SPHINGOMYELIN PHOSPHODIESTERASE 4, NEUTRAL MEMBRANE; SMPD4; Clinical Synopsis for 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1; Clinical Synopsis for 133700 EXOSTOSES, MULTIPLE, TYPE I; Clinical Synopsis for 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE; Clinical Synopsis for 600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2

September 28, 2006
New Entries:: 610452 MUTAGEN SENSITIVITY; 610453 HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT; 610454 LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 2; LZTS2; 610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC; 610456 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9; SAMD9; 610457 SPHINGOMYELIN PHOSPHODIESTERASE 4, NEUTRAL MEMBRANE; SMPD4
Changed Entries:: 147310 CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10; 152445 LORICRIN; LOR; 186973 T-CELL TYROSINE KINASE EMT; EMT; 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC; 254200 MYASTHENIA GRAVIS; MG; 300460 PROTOCADHERIN 19; PCDH19; 300574 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3; 305800 MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED; 600554 INTERLEUKIN 15; IL15; 602403 BLEOMYCIN HYDROLASE; BLMH; 602890 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; KLRB1; 603498 SPHINGOMYELIN PHOSPHODIESTERASE 2, NEUTRAL MEMBRANE; SMPD2; 603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4; 604186 CHEMOKINE, CXC MOTIF, LIGAND 14; CXCL14; 604895 T-BOX 21; TBX21; 605659 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER D; CLEC2D; 605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3; 605803 DERMATITIS, ATOPIC, 2; ATOD2; 607732 STERILE ALPHA AND TIR MOTIFS-CONTAINING PROTEIN 1; SARM1; 607754 MAKORIN 1; MKRN1; 607815 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 1B;; 607955 STERILE ALPHA MOTIFS- AND SH3 DOMAIN-CONTAINING PROTEIN 1; SASH1; 608212 LRG47, MOUSE, HOMOLOG OF; 608297 REMOVED FROM DATABASE; 608593 COMPLEMENT FACTOR H-RELATED 5; CFHR5; 608994 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN; Clinical Synopsis for 235400 HEMOLYTIC-UREMIC SYNDROME; HUS; Clinical Synopsis for 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC

September 27, 2006
New Entries:: 610446 BURULI ULCER, SUSCEPTIBILITY TO; 610447 SHADOW OF PRION PROTEIN; SPRN; 610448 CHILBLAIN LUPUS; 610449 MITOCHONDRIAL CARRIER HOMOLOG 1; MTCH1; 610450 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; LYPD1; 610451 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 35; LRRC35
Changed Entries:: 107941 ARRESTIN, BETA, 2; ARRB2; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 124092 INTERLEUKIN 10; IL10; 125590 DERMATOGLYPHICS--FINGERPRINT PATTERN; 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR; 148066 KERATIN 14; KRT14; 161000 NAEGELI SYNDROME; 162320 TACHYKININ 1; TAC1; 162323 TACHYKININ RECEPTOR 1; TACR1; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 218040 COSTELLO SYNDROME; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA; 265100 PULMONARY ALVEOLAR MICROLITHIASIS; 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP; 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601769 VITAMIN D RECEPTOR; VDR; 601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 604217 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 606110 LY6/NEUROTOXIN 1; LYNX1; 606119 SECRETED LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; SLURP1; 606428 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A3; UGT1A3; 607872 MONOSOMY 1p36 SYNDROME; 608350 ENDOMUCIN; EMCN; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609484 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 3; LYPD3; 609983 VACUOLAR PROTEIN SORTING 4, S. CEREVISIAE, HOMOLOG OF, B; VPS4B; 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; 610446 BURULI ULCER, SUSCEPTIBILITY TO; 610449 MITOCHONDRIAL CARRIER HOMOLOG 1; MTCH1

September 26, 2006
New Entries:: 610433 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5B; LY6G5B; 610434 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5C; LY6G5C; 610435 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6C; LY6G6C; 610436 ROTATIN; RTTN; 610437 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6E; LY6G6E; 610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; 610439 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4; 610440 RUN AND TBC1 DOMAINS-CONTAINING PROTEIN 3; RUTBC3; 610441 TESTICULAR MICROLITHIASIS; 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; 610443 CHROMOSOME 17q21.31 MICRODELETION SYNDROME
Changed Entries:: 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; 103285 ADULT SYNDROME; 153100 LYMPHEDEMA, HEREDITARY, I; 211750 C SYNDROME; 230800 GAUCHER DISEASE, TYPE I; 265100 PULMONARY ALVEOLAR MICROLITHIASIS; 300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A; 600684 T-LYMPHOCYTE SURFACE ANTIGEN LY-9; LY9; 600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1; 602291 FORKHEAD BOX J1; FOXJ1; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 604217 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 605384 INTERLEUKIN 21; IL21; 605580 INTERLEUKIN 23-ALPHA; IL23A; 606572 NADPH OXIDASE 5; NOX5; 606790 CD300A ANTIGEN; CD300A; 607047 ATAXIN 3; ATXN3; 608831 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2; 610382 PROSOPAGNOSIA, HEREDITARY; 610386 BTB/POX DOMAIN-CONTAINING PROTEIN 7; BTBD7; 610433 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5B; LY6G5B; 610436 ROTATIN; RTTN; 610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; 610439 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4; 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; Clinical Synopsis for 230800 GAUCHER DISEASE, TYPE I; Clinical Synopsis for 265100 PULMONARY ALVEOLAR MICROLITHIASIS

September 25, 2006
New Entries:: 610402 ANEURYSM, INTRACRANIAL BERRY, 5; 610427 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B; 610428 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX18; COX18; 610429 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX19; COX19; 610430 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2; WM2; 610431 RING FINGER PROTEIN 167; RNF167; 610432 RING FINGER PROTEIN 125; RNF125
Changed Entries:: 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 114550 HEPATOCELLULAR CARCINOMA; 153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1; 157900 MOEBIUS SYNDROME; MBS; 158370 MUCIN 2, INTESTINAL; MUC2; 300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2A; 300278 NYCTALOPIN; NYX; 310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1; 600554 INTERLEUKIN 15; IL15; 601070 INTERLEUKIN 15 RECEPTOR, ALPHA; IL15RA; 601283 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1; 602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18;; 605018 CYLD GENE; CYLD1; 605286 CALPAIN 10; CAPN10; 605725 PERIAXIN; PRX; 606832 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE; 608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2; 608321 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 2; TICAM2; 608965 CALCIUM-BINDING PROTEIN 4; CABP4; 610427 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B

September 22, 2006
New Entries:: 610423 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 2; PACS2; 610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO; 610425 CATARACT, LAMELLAR 2; 610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4
Changed Entries:: 109150 MACHADO-JOSEPH DISEASE; MJD; 114500 COLORECTAL CANCER; CRC; 123620 CRYSTALLIN, BETA-B2; CRYBB2; 123631 CRYSTALLIN, BETA-A4; CRYBA4; 123889 INTERLEUKIN 10 RECEPTOR, BETA; IL10RB; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 133700 EXOSTOSES, MULTIPLE, TYPE I; 133701 EXOSTOSES, MULTIPLE, TYPE II; 157900 MOEBIUS SYNDROME; MBS; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 1; PIK3R1; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 235200 HEMOCHROMATOSIS; HFE; 246300 LEPROSY, SUSCEPTIBILITY TO; 261600 PHENYLKETONURIA; 277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS; 277700 WERNER SYNDROME; WRN; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 303600 COFFIN-LOWRY SYNDROME; CLS; 600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),; 602376 INTERFERON, ALPHA, BETA, AND OMEGA, RECEPTOR 2; IFNAR2; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14; 607492 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1; 609461 TRIBBLES, DROSOPHILA, HOMOLOG OF, 1; TRIB1; 610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO; 610425 CATARACT, LAMELLAR 2

September 21, 2006
New Entries:: 610420 AURICULAR ANOMALY, ACCESSORY, AUTOSOMAL DOMINANT, 1; 610421 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED
Changed Entries:: 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 107730 APOLIPOPROTEIN B; APOB; 117550 SOTOS SYNDROME; 134370 COMPLEMENT FACTOR H; CFH; 143100 HUNTINGTON DISEASE; HD; 148040 KERATIN 5; KRT5; 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC; 160900 DYSTROPHIA MYOTONICA 1; 161650 NEBULIN; NEB; 161800 NEMALINE MYOPATHY 3; NEM3; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 219000 FRASER SYNDROME; 256030 NEMALINE MYOPATHY 2; NEM2; 300336 NEUROLIGIN 3; NLGN3; 300377 DYSTROPHIN; DMD; 300427 NEUROLIGIN 4; NLGN4; 600963 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5; 602212 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1; 605371 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARFGEF2; 606103 SESTRIN 1; SESN1; 606186 CALCYCLIN-BINDING PROTEIN; CACYBP; 606325 HETEROTAXY, VISCERAL, 3; 606439 SPG3A GENE; SPG3A; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1; 607102 WILMS TUMOR 1 GENE; WT1; 607830 FRAS1 GENE; FRAS1; 608944 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; FREM1; 608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO

September 20, 2006
New Entries:: 610419 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Changed Entries:: 108800 ATRIAL SEPTAL DEFECT 1; ASD1; 112203 CD80 ANTIGEN; CD80; 113705 BREAST CANCER 1 GENE; BRCA1; 138945 GRANULIN; GRN; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 182125 SEPIAPTERIN REDUCTASE; SPR; 186700 SYRINGOMYELIA, ISOLATED; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 191306 KINASE INSERT DOMAIN RECEPTOR; KDR; 202650 DYSGNATHIA COMPLEX; 300490 SH2 DOMAIN PROTEIN 1A; SH2D1A; 600274 FRONTOTEMPORAL DEMENTIA; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 601024 ADAPTOR-RELATED PROTEIN COMPLEX 2, MU-1 SUBUNIT; AP2M1; 601808 CHROMOSOME 18q DELETION SYNDROME; 602215 DEFENSIN, BETA, 4; DEFB4; 603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1; 603140 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, ALPHA; PIP5K2A; 603261 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B; 604039 MENINGIOMA-EXPRESSED ANTIGEN 5; MGEA5; 606102 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C; 607485 FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE; 607546 CD200 RECEPTOR 1; CD200R1; 608868 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN; 610143 DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62; 610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49; 610248 DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65

September 19, 2006
New Entries:: 610416 SCAN DOMAIN-CONTAINING 1; SCAND1; 610417 SCAN DOMAIN-CONTAINING 2; SCAND2; 610418 WD REPEAT- AND FYVE DOMAIN-CONTAINING 2; WDFY2
Changed Entries:: 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML; 123831 CYCLIN-DEPENDENT KINASE 5; CDK5; 137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3; MLLT3; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 180902 RYANODINE RECEPTOR 2; RYR2; 184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1; 194550 MYELOID ZINC FINGER GENE 1; MZF1; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601968 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2B; WNT2B; 602044 UNCOUPLING PROTEIN 3; UCP3; 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2; 604532 POLYCYSTIN 2-LIKE 1; PKD2L1; 605035 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1; 606264 C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A; 607212 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9; CARD9; 607372 PC2 GLUTAMINE/Q-RICH-ASSOCIATED PROTEIN; PCQAP; 609333 TRACE AMINE-ASSOCIATED RECEPTOR 1; TAAR1; 609377 ACD, MOUSE, HOMOLOG OF; ACD; 609600 ZINC FINGER PROTEIN 396; ZNF396; 609601 ZINC FINGER PROTEIN 397; ZNF397; 609602 ZINC FINGER PROTEIN 393; ZNF393; 609610 GAMMA-TUBULIN COMPLEX COMPONENT 4; 609611 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER E; ANP32E; 609614 RNA EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; REXO1; 609686 CITRATE LYASE BETA-LIKE; CLYBL; 609690 PHENYLALANINE-tRNA SYNTHETASE-LIKE, BETA SUBUNIT; FARSLB; 610418 WD REPEAT- AND FYVE DOMAIN-CONTAINING 2; WDFY2

September 18, 2006
New Entries:: 610415 SYNTAXIN-BINDING PROTEIN 4; STXBP4
Changed Entries:: 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4; 119530 OROFACIAL CLEFT 1; OFC1; 123610 CRYSTALLIN, BETA-A1; CRYBA1; 144700 RENAL CELL CARCINOMA 1; RCC1; 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME; 153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS; 176883 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6; 180860 SILVER-RUSSELL SYNDROME; SRS; 188400 DIGEORGE SYNDROME; DGS; 191170 TUMOR PROTEIN p53; TP53; 192430 VELOCARDIOFACIAL SYNDROME; 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1; 600438 TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM; 601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602438 HEAT-SHOCK TRANSCRIPTION FACTOR 4; HSF4; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602842 GEMININ; GMNN; 603816 AXIS INHIBITOR 1; AXIN1; 604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR; 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; 608069 ERBB RECEPTOR FEEDBACK INHIBITOR 1; ERRFI1; 608271 MICROTUBULE-ACTIN CROSS-LINKING FACTOR 1; MACF1; 608464 VG5Q GENE; Clinical Synopsis for 157900 MOEBIUS SYNDROME; MBS

September 15, 2006
New Entries:: 610411 IMPORTIN 13; IPO13; 610412 CHROMOSOME 3 OPEN READING FRAME 57; C3ORF57; 610413 INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN-LIKE 1; IGFBPL1; 610414 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15
Changed Entries:: 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 134350 FACTOR D; 134370 COMPLEMENT FACTOR H; CFH; 134371 COMPLEMENT FACTOR H-RELATED 1; CFHR1; 136533 FORKHEAD BOX O1A; FOXO1A; 146931 INTERLEUKIN 9; IL9; 164160 LEPTIN; LEP; 176830 PROOPIOMELANOCORTIN; POMC; 216550 COHEN SYNDROME; COH1; 239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA; 305800 GLOMERULONEPHRITIS, X-LINKED MESANGIOCAPILLARY; 600889 COMPLEMENT FACTOR H-RELATED 2; CFHR2; 600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1; 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9; 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP; 603681 OTOFERLIN; OTOF; 605336 COMPLEMENT FACTOR H-RELATED 3; CFHR3; 605337 COMPLEMENT FACTOR H-RELATED 4; CFHR4; 607817 COH1 GENE; COH1; 608593 COMPLEMENT FACTOR H-RELATED 5; CFHR5; 610177 INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 1; ISG20L1; 610412 CHROMOSOME 3 OPEN READING FRAME 57; C3ORF57; 610413 INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN-LIKE 1; IGFBPL1; 610414 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15

September 14, 2006
New Entries:: 610405 CHONDROITIN POLYMERIZING FACTOR; 610406 TRANSFER RNA ARGININE 1; TRR1; 610407 TRANSFER RNA GLYCINE 2; TRG2; 610408 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 3; SLC15A3; 610409 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 610410 DEHYDROGENASE/REDUCTASE SDR FAMILY MEMBER 1; DHRS1
Changed Entries:: 103200 ADIPOSIS DOLOROSA; 108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA; 109480 BASIGIN; BSG; 120970 CONE-ROD DYSTROPHY 2; CORD2; 122470 CORNELIA DE LANGE SYNDROME; CDLS; 142900 HOLT-ORAM SYNDROME; HOS; 164280 FEINGOLD SYNDROME; 182125 SEPIAPTERIN REDUCTASE; SPR; 184429 SRY-BOX 2; SOX2; 189918 TRANSFER RNA LYSINE 1; TRK1; 189919 TRANSFER RNA GLUTAMINE 1; TRQ1; 189920 TRANSFER RNA LEUCINE 2; TRL2; 189932 TRANSFER RNA LEUCINE 1; TRL1; 189960 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA; 189967 TEA DOMAIN FAMILY MEMBER 1; TEAD1; 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; 208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;; 269920 INFANTILE SIALIC ACID STORAGE DISORDER; 272120 SUDDEN INFANT DEATH SYNDROME; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 601620 T-BOX 5; TBX5; 602273 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3; 603877 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 603878 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 603879 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 603880 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 604369 SIALURIA, FINNISH TYPE; 606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1; 607934 PEPTIDYLARGININE DEIMINASE, TYPE I; PADI1; 608091 JOUBERT SYNDROME 2; JBTS2; 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; 609963 CHONDROITIN SULFATE SYNTHASE 3; 610405 CHONDROITIN POLYMERIZING FACTOR; 610406 TRANSFER RNA ARGININE 1; TRR1; 610407 TRANSFER RNA GLYCINE 2; TRG2; 610408 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 3; SLC15A3

September 13, 2006
New Entries:: 610399 TRANSMEMBRANE PROTEASE, SERINE 11E; TMPRSS11E; 610400 LRP16 PROTEIN; 610401 NETRIN 4; NTN4; 610403 CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED 2; CAND2; 610404 RECQ-MEDIATED GENOME INSTABILITY 1, S. CEREVISIAE, HOMOLOG OF; RMI1; Clinical Synopsis for 610031 POLYMICROGYRIA, UNILATERAL
Changed Entries:: 106100 ANGIOEDEMA, HEREDITARY; HAE; 133780 EXUDATIVE VITREORETINOPATHY 1; EVR1; 181500 SCHIZOPHRENIA; SCZD; 300389 RETINITIS PIGMENTOSA 3; RP3; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600105 RETINITIS PIGMENTOSA 12; RP12; 601243 TOPOISOMERASE, DNA, III, ALPHA; TOP3A; 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4; 605369 TRANSMEMBRANE PROTEASE, SERINE 11D; TMPRSS11D; 606272 CYSTINOSIN; CTNS; 606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH; 607727 CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED PROTEIN 1; CAND1; 610354 CONNEXIN 43-INTERACTING PROTEIN, 150-KD; CIP150; 610382 PROSOPAGNOSIA, HEREDITARY; 610403 CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED 2; CAND2; Clinical Synopsis for 158250 NONDISJUNCTION; Clinical Synopsis for 176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS; Clinical Synopsis for 180200 RETINOBLASTOMA; RB1; Clinical Synopsis for 194050 WILLIAMS-BEUREN SYNDROME; WBS; Clinical Synopsis for 257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA; Clinical Synopsis for 266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS; Clinical Synopsis for 271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; Clinical Synopsis for 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3; Clinical Synopsis for 605259 SPINOCEREBELLAR ATAXIA 13; SCA13

September 12, 2006
New Entries:: 610398 SAP30-LIKE PROTEIN; SAP30L; Clinical Synopsis for 300571 HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE; Clinical Synopsis for 605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; Clinical Synopsis for 606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ; Clinical Synopsis for 607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP; Clinical Synopsis for 609941 DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51
Changed Entries:: 106100 ANGIOEDEMA, HEREDITARY; HAE; 107720 APOLIPOPROTEIN C-III; APOC3; 107741 APOLIPOPROTEIN E; APOE; 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD; 143100 HUNTINGTON DISEASE; HD; 176807 PROSTATE CANCER; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS; 231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A; 600819 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1; FXR1; 601371 CATARACT, AGE-RELATED NUCLEAR; 601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1; 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3; 604229 PETERS ANOMALY; 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+; 604653 SOLUTE CARRIER FAMILY 40 (IRON-REGULATED TRANSPORTER), MEMBER 1; SLC40A1; 606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH; 606904 EPILEPSY, JUVENILE MYOCLONIC; JME; 609708 LIPOPROTEIN LIPASE; LPL; Clinical Synopsis for 101400 SAETHRE-CHOTZEN SYNDROME; SCS; Clinical Synopsis for 118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT; Clinical Synopsis for 125250 OPTIC ATROPHY 1 AND DEAFNESS; Clinical Synopsis for 142690 ACNE INVERSA, FAMILIAL; Clinical Synopsis for 148900 SEGMENTATION SYNDROME 1; SGM1; Clinical Synopsis for 165500 OPTIC ATROPHY 1; OPA1; Clinical Synopsis for 188400 DIGEORGE SYNDROME; DGS; Clinical Synopsis for 205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2; Clinical Synopsis for 214300 KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE; Clinical Synopsis for 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; Clinical Synopsis for 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; Clinical Synopsis for 256000 LEIGH SYNDROME; LS; Clinical Synopsis for 300438 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II, DEFICIENCY; Clinical Synopsis for 311200 OROFACIODIGITAL SYNDROME I; OFD1; Clinical Synopsis for 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; Clinical Synopsis for 601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA; Clinical Synopsis for 602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION; Clinical Synopsis for 607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP

September 11, 2006
New Entries:: 610392 MYC-BINDING PROTEIN 2; MYCBP2; 610393 GON4-LIKE PROTEIN; GON4L; 610394 GLIPR1-LIKE PROTEIN 2; GLIPR1L2; 610395 GLIPR1-LIKE PROTEIN 1; GLIPR1L1; 610396 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6A; TRAPPC6A; 610397 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6B; TRAPPC6B; Clinical Synopsis for 610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME; Clinical Synopsis for 610256 APHAKIA, CONGENITAL PRIMARY
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 114240 CALPAIN 3; CAPN3; 118938 CHYMASE 1; CMA1; 142968 HOMEOBOX B1; HOXB1; 146690 IMP DEHYDROGENASE 1; IMPDH1; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147100 IgG HEAVY CHAIN LOCUS; IGHG1; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 185605 SYNAPTOTAGMIN 1; SYT1; 186590 SYNTAXIN 1A; STX1A; 188840 TITIN; TTN; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 600110 STARGARDT DISEASE 3; STGD3; 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25; 600759 PRESENILIN 2; PSEN2; 601652 MYOCILIN; MYOC; 602021 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A; 602692 GLIOMA PATHOGENESIS-RELATED PROTEIN 1; GLIPR1; 603615 RAD54, S. CEREVISIAE, HOMOLOG-LIKE; RAD54L; 603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 605032 COMPLEXIN 1; CPLX1; 607379 NEUROFIBROMIN 2; NF2; 607860 YY1 ASSOCIATED PROTEIN 1; YY1AP1; 608153 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14A; PPP1R14A; 608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET; 610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME; 610256 APHAKIA, CONGENITAL PRIMARY; 610395 GLIPR1-LIKE PROTEIN 1; GLIPR1L1; Clinical Synopsis for 223000 LACTASE DEFICIENCY, CONGENITAL; Clinical Synopsis for 265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; Clinical Synopsis for 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY

September 8, 2006
New Entries:: 610387 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL IRON CARRIER), MEMBER 37;; 610388 RAS (RAD AND GEM)-LIKE GTP-BINDING 1; REM1; 610389 MAPBP-INTERACTING PROTEIN; 610390 MACROPHAGE EXPRESSED GENE 1; 610391 PLASTICITY-RELATED GENE 2
Changed Entries:: 108345 N-ACETYLTRANSFERASE 1; NAT1; 134570 FACTOR XIII, A1 SUBUNIT; F13A1; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 134850 FIBRINOGEN, G GAMMA POLYPEPTIDE; FGG; 139250 GROWTH HORMONE 1; GH1; 146390 CHROMOSOME 18p DELETION SYNDROME; 170280 PERFORIN 1; PRF1; 176710 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT,; 176982 PROTEIN KINASE C, ZETA FORM; PRKCZ; 180200 RETINOBLASTOMA; RB1; 191170 TUMOR PROTEIN p53; TP53; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 305423 FACTOR VIII-ASSOCIATED GENE 1; F8A; 600068 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7; UGT2B7; 600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2; 600397 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1;; 600411 GUANYLATE BINDING PROTEIN 1, INTERFERON-INDUCIBLE, 67-KD; GBP1; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602280 TUBBY-LIKE PROTEIN 1; TULP1; 603296 MEK PARTNER 1; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 604813 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX17; COX17; 605000 CORONIN 1A; CORO1A; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 606709 PROTEASE, SERINE, 12; PRSS12; 607336 BESTROPHIN 4; BEST4; 607500 MOVED TO 146390; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607813 PLASTICITY-RELATED GENE 1; 607854 BESTROPHIN 1; BEST1; 608067 CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF; 609625 CHROMOSOME 10q DELETION SYNDROME; 609933 REGENERATING ISLET-DERIVED 3-GAMMA; REG3G; 610372 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 610385 LR8 PROTEIN; LR8; 610388 RAS (RAD AND GEM)-LIKE GTP-BINDING 1; REM1; 610389 MAPBP-INTERACTING PROTEIN; 610390 MACROPHAGE EXPRESSED GENE 1

September 7, 2006
New Entries:: 610380 AORTIC ANEURYSM, FAMILIAL THORACIC 5; 610381 CONE-ROD DYSTROPHY 11; 610382 PROSOPAGNOSIA, HEREDITARY; 610383 PEPTIDYLGLYCINE ALPHA-AMIDATING MONOOXYGENASE C-TERMINAL INTERACTOR;; 610384 HECT, C2, AND WW DOMAINS-CONTAINING E3 UBIQUITIN-PROTEIN LIGASE 1;; 610385 LR8 PROTEIN; LR8; 610386 BTB/POX DOMAIN-CONTAINING PROTEIN 7; BTBD7
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 115800 CATARACT, CRYSTALLINE CORALLIFORM; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 137141 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4; 139250 GROWTH HORMONE 1; GH1; 145750 HYPERTRIGLYCERIDEMIA, FAMILIAL; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1; 191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B; 209850 AUTISM; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 230200 GALACTOKINASE DEFICIENCY; 234350 HALOTHANE HEPATITIS; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 252150 MOLYBDENUM COFACTOR DEFICIENCY; 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15; 308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED; 600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8; 600185 BREAST CANCER 2 GENE; BRCA2; 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C; 600865 RETICULON 1; RTN1; 601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1; 601601 TRANSCRIPTION FACTOR AP2-BETA; TFAP2B; 601652 MYOCILIN; MYOC; 603139 RAD17, S. POMBE, HOMOLOG OF; RAD17; 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC; 604214 KREV INTERACTION TRAPPED 1; KRIT1; 604263 PRION GENE COMPLEX, DOWNSTREAM; PRND; 604277 SPG4 GENE; SPG4; 604313 GALACTOKINASE 1; GALK1; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 605434 CLASPIN, XENOPUS, HOMOLOG OF; CLSPN; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 606439 SPG3A GENE; SPG3A; 606781 TRANSKETOLASE; TKT; 606928 BONE MINERAL DENSITY VARIATION 3; BMND3; 607117 MCPH1 GENE; MCPH1; 607566 EPM2A GENE; EPM2A; 607822 ALZHEIMER DISEASE 3; 607837 CLN8 GENE; CLN8; 608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5; 609672 SEC15-LIKE 1; SEC15L1; 610362 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; RAXL1; 610365 C1Q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 1; C1QTNF1; 610371 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 610385 LR8 PROTEIN; LR8

September 6, 2006
New Entries:: 610376 CHEMOKINE ORPHAN RECEPTOR 1; CMKOR1; 610377 MEVALONIC ACIDURIA; 610378 GLIS FAMILY ZINC FINGER PROTEIN 1; GLIS1; 610379 WEST NILE VIRUS, SUSCEPTIBILITY TO
Changed Entries:: 114217 CALNEXIN; CANX; 123855 CYSTATIN 1; CST1; 123856 CYSTATIN 2; CST2; 123857 CYSTATIN 4; CST4; 123858 CYSTATIN 5; CST5; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB; 180250 RETINOL-BINDING PROTEIN 4; RBP4; 191080 TRYPTASE, ALPHA/BETA-1; TPSAB1; 192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1; 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS; 251170 MEVALONATE KINASE; MVK; 300126 DYSKERIN; DKC1; 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; 430000 INTERLEUKIN 3 RECEPTOR, Y-CHROMOSOMAL; IL3RA; 600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 601178 GPI-ANCHORED MEMBRANE PROTEIN 1; GPIAP1; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 602049 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2; RAC2; 602656 ENDONUCLEASE III-LIKE 1; NTHL1; 603039 MAX-BINDING PROTEIN; MNT; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 606201 WFS1 GENE; WFS1; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 606350 APRATAXIN; APTX; 606573 FYN-RELATED KINASE; FRK; 606967 LECITHIN:CHOLESTEROL ACYLTRANSFERASE; LCAT; 609272 TRYPTASE, DELTA-1; TPSD1; 610378 GLIS FAMILY ZINC FINGER PROTEIN 1; GLIS1; Clinical Synopsis for 260920 HYPER-IgD SYNDROME; HIDS

September 5, 2006
New Entries:: 610359 RETINITIS PIGMENTOSA 33; RP33; 610362 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; RAXL1; 610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL; 610372 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 610373 DEAD/H BOX 50; DDX50; 610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2; 610375 C1Q DOMAIN-CONTAINING PROTEIN 1; C1QDC1
Changed Entries:: 107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1; 107720 APOLIPOPROTEIN C-III; APOC3; 118938 CHYMASE 1; CMA1; 120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 131222 ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED; ECGF1; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147170 IMMUNOGLOBULIN: HEAVY DELTA CHAIN; IGHD; 147310 CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10; 147571 INTERFERON-INDUCED PROTEIN IFI-15K; G1P2; 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1; 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2; 162660 NEUROTROPHIN 3; NTF3; 168820 PARAOXONASE 1; PON1; 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1; 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3; 191730 URIDINE PHOSPHORYLASE 1; UPP1; 210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; 214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; 222748 DIHYDROPYRIMIDINASE; DPYS; 229300 FRIEDREICH ATAXIA 1; FRDA; 242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE; 251850 DIARRHEA 2, WITH MICROVILLOUS ATROPHY; 270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL; 276000 PROTEASE, SERINE, 1; PRSS1; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED; 300519 MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME; 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8; 600807 ASTHMA, SUSCEPTIBILITY TO; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1; 601891 CYSTATIN 6; CST6; 602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL; 603122 DEDICATOR OF CYTOKINESIS 2; DOCK2; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604882 NEUROGENIN 3; NEUROG3; 606145 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 606357 DEAD/H BOX 21; DDX21; 606368 APOLIPOPROTEIN A-V; APOA5; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608242 HECT DOMAIN AND RCC1-LIKE DOMAIN 5; HERC5; 608667 NIPPED-B-LIKE; NIPBL; 610372 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2; Clinical Synopsis for 607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD

September 1, 2006
New Entries:: 610369 HEAT-SHOCK 70-KD PROTEIN 14; HSPA14; 610371 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
Changed Entries:: 147571 INTERFERON-INDUCED PROTEIN IFI-15K; G1P2; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 165720 OSTEOARTHRITIS; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB; 226670 EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY; 226700 EPIDERMOLYSIS BULLOSA LETALIS; 226730 EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA; 300032 ATR-X GENE; ATRX; 300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F; 300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; 304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1; 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2; 602758 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, BETA; PIK4CB; 603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 605502 ZUOTIN-RELATED FACTOR 1; ZRF1; 606384 UBIQUITIN PROTEIN LIGASE NEDD4-LIKE; NEDD4L; 607659 ELL-ASSOCIATED FACTOR 2; EAF2; 608315 ELL-ASSOCIATED FACTOR 1; EAF1; 610166 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 1; IQSEC1; 610368 LEUCINE-RICH REPEATS AND CALPONIN HOMOLOGY DOMAIN-CONTAINING 1; LRCH1; 610369 HEAT-SHOCK 70-KD PROTEIN 14; HSPA14; 610371 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

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OMIM Update List for September, 2006

September 29, 2006

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September 27, 2006

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September 11, 2006

September 8, 2006

September 7, 2006

September 6, 2006

September 5, 2006

September 1, 2006