OMIM Update List for January, 2008

PubMed

Nucleotide

Protein

Genome

OMIM Update List for January, 2008

Please send your questions to the NCBI Help Desk.

January 31, 2008
New Entries:: 611725 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 7; KCTD7; 611726 EPILEPSY, PROGRESSIVE MYOCLONIC 3; EPM3
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 114500 COLORECTAL CANCER; CRC; 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 124900 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1; 124910 MOVED TO 124900; 139600 HAIRY ELBOWS; 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 221600 MOVED TO 220290; 221650 MOVED TO 220290; 236000 HODGKIN LYMPHOMA; 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD; 258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6; 602378 DYNAMIN 2; DNM2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B; 605312 GROWTH/DIFFERENTIATION FACTOR 15; GDF15; 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM; 607136 SPINOCEREBELLAR ATAXIA 17; SCA17; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610532 HYPOMYELINATION AND CONGENITAL CATARACT; 611755 LEBER CONGENITAL AMAUROSIS, TYPE X; LCA10

January 30, 2008
New Entries:: 611763 LIMB BUD AND HEART DEVELOPMENT, MOUSE, HOMOLOG OF; LBH; 611764 CORNIFELIN; CNFN; 611765 SKIN ASPARTIC PROTEASE
Changed Entries:: 147620 INTERLEUKIN 6; IL6; 157900 MOEBIUS SYNDROME; MBS; 164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS; 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS; 166710 OSTEOPOROSIS; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 176920 PROTEUS SYNDROME; 180300 RHEUMATOID ARTHRITIS; RA; 191730 URIDINE PHOSPHORYLASE 1; UPP1; 251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME; 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS; 300688 BCL6 COREPRESSOR-LIKE 1; BCORL1; 300689 START DOMAIN-CONTAINING PROTEIN 8; STARD8; 600751 SIALOADHESIN; SN; 600757 OROFACIAL CLEFT 3; OFC3; 600840 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER),; 601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS; 605309 MACROCEPHALY/AUTISM SYNDROME; 607347 ALPHA-KINASE 1; ALPK1; 608721 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 2; CAMK2N2; 611419 CHROMOSOME 6 OPEN READING FRAME 1; C6ORF1; 611644 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9; 611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5; 611721 COMBINED SAPOSIN DEFICIENCY; 611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; 611732 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 1; MBOAT1; 611736 GREB1 PROTEIN; 611737 SEPTIN 10; SEPT10; 611738 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7; 611739 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8; BMND8; 611740 BETA-CAROTENE DIOXYGENASE 2; BCDO2; 611741 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL 3; ACCN3; 611743 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 6;; 611744 OTU DOMAIN-CONTAINING PROTEIN 4; OTUD4; 611745 VCP/p47 COMPLEX-INTERACTING PROTEIN 1; VCPIP1; 611746 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN; 611747 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN; 611748 OTU DOMAIN-CONTAINING PROTEIN 7B; OTUD7B; 611749 ZINC FINGER- AND RAN-BINDING DOMAIN-CONTAINING PROTEIN 1; ZRANB1; 611750 SYNCOILIN 1; SYNC1; 611751 THUMP DOMAIN-CONTAINING 2; THUMPD2; 611752 CHROMOSOME 2 OPEN READING FRAME 40; C2ORF40; 611753 TRANSMEMBRANE PROTEIN 49; TMEM49; 611754 ALPHA-AMINOADIPATE AMINOTRANSFERASE; AADAT; 611755 LEBER CONGENITAL AMAUROSIS, TYPE X; LCA10; 611756 ROPN1-LIKE PROTEIN; ROPN1L; 611757 RHOPHILIN-ASSOCIATED TAIL PROTEIN 1; ROPN1; 611758 OTU DOMAIN-CONTAINING PROTEIN 3; OTUD3; 611759 STARD3 N-TERMINAL LIKE; STARD3NL; Clinical Synopsis for 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME

January 29, 2008
New Entries:: 611760 PROTOCADHERIN 17; PCDH17; 611761 LIPASE MATURATION FACTOR 1; LMF1
Changed Entries:: 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120435 LYNCH SYNDROME I; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 135620 INTEGRIN, ALPHA-5; ITGA5; 158320 MUIR-TORRE SYNDROME; MTS; 166800 OTOSCLEROSIS; OTSC1; 167800 PANCREATITIS, HEREDITARY; PCTT; 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY; 246650 LIPASE DEFICIENCY, COMBINED; 600068 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7; UGT2B7; 600946 GROWTH HORMONE RECEPTOR; GHR; 601665 OBESITY; 604160 INTEGRIN, BETA-8; ITGB8; 605386 MICRO RNA LET7A1; MIRNLET7A1; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1; 608067 RING FINGER- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 2; RFWD2; 608660 INSULIN-INDUCED GENE 2; INSIG2; 608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2; 608973 SNF1-LIKE KINASE 2; SNF1LK2; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3; Clinical Synopsis for 136140 FLOATING-HARBOR SYNDROME; Clinical Synopsis for 177820 PSEUDO-VON WILLEBRAND DISEASE; Clinical Synopsis for 607822 ALZHEIMER DISEASE 3

January 28, 2008
New Entries:: 611756 ROPN1-LIKE PROTEIN; ROPN1L; 611757 RHOPHILIN-ASSOCIATED TAIL PROTEIN 1; ROPN1; 611758 OTU DOMAIN-CONTAINING PROTEIN 3; OTUD3; 611759 STARD3 N-TERMINAL LIKE; STARD3NL
Changed Entries:: 112203 CD80 ANTIGEN; CD80; 113705 BREAST CANCER 1 GENE; BRCA1; 114105 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA; 114480 BREAST CANCER; 114500 COLORECTAL CANCER; CRC; 116806 CATENIN, BETA-1; CTNNB1; 146929 INTERLEUKIN 8 RECEPTOR, ALPHA; IL8RA; 147183 RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA,; 150570 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 1; LGALS1; 164960 ONCOGENE PIM 1; PIM1; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3; 203800 ALSTROM SYNDROME; ALMS; 231000 GAUCHER DISEASE, TYPE III; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 300037 GLYPICAN 3; GPC3; 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1; 300683 SEPTIN 6; SEPT6; 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; 520000 DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED; 590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK; 600185 BRCA2 GENE; BRCA2; 600623 CD82 ANTIGEN; CD82; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH; 601506 SEPTIN 2; SEPT2; 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2; 602186 VGF, NERVE GROWTH FACTOR-INDUCIBLE; VGF; 602866 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 2; ACCN2; 603071 G PROTEIN-COUPLED RECEPTOR 17; GPR17; 603151 SEPTIN 7; SEPT7; 603243 AUTOCRINE MOTILITY FACTOR RECEPTOR; AMFR; 603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4; 604558 INDUCIBLE T-CELL COSTIMULATOR; ICOS; 605516 CADHERIN 23; CDH23; 606182 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 9; TNFSF9; 606844 ALMS1 GENE; ALMS1; 606968 EUKARYOTIC ELONGATION FACTOR 2 KINASE; EEF2K; 607048 START DOMAIN-CONTAINING PROTEIN 3; STARD3; 607212 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9; CARD9; 607347 ALPHA-KINASE 1; ALPK1; 607393 HRPT2 GENE; HRPT2; 608721 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 2; CAMK2N2; 609078 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 10; FBXL10; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 609424 RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING 1; RC3H1

January 25, 2008
New Entries:: 300689 START DOMAIN-CONTAINING PROTEIN 8; STARD8; 611755 LEBER CONGENITAL AMAUROSIS, TYPE X; LCA10
Changed Entries:: 102630 ACTIN, BETA; ACTB; 140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA; 163729 NITRIC OXIDE SYNTHASE 3; NOS3; 176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1; 182290 SMITH-MAGENIS SYNDROME; SMS; 182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1; 191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8; 191339 UBIQUITIN B; UBB; 300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1; 600576 GATA-BINDING PROTEIN 4; GATA4; 600712 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; HNRNPK; 604258 DELETED IN LIVER CANCER 1; DLC1; 604429 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 2; PRRG2; 605018 CYLD GENE; CYLD1; 605351 FIBRINOGEN-LIKE 2; FGL2; 606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610733 NOONAN SYNDROME 4; NS4

January 24, 2008
New Entries:: 611751 THUMP DOMAIN-CONTAINING 2; THUMPD2; 611752 CHROMOSOME 2 OPEN READING FRAME 40; C2ORF40; 611753 TRANSMEMBRANE PROTEIN 49; TMEM49; 611754 ALPHA-AMINOADIPATE AMINOTRANSFERASE; AADAT
Changed Entries:: 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP; 191170 TUMOR PROTEIN p53; TP53; 211980 LUNG CANCER; 313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 600365 ACTIVE BCR-RELATED GENE; ABR; 600547 CYSTEINE CONJUGATE BETA-LYASE 1; CCBL1; 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3; 602809 KINESIN FAMILY MEMBER 5B; KIF5B; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 604645 PHOSPHODIESTERASE 7B, cAMP-SPECIFIC, HIGH-AFFINITY; PDE7B; 605800 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U-LIKE 1; HNRPUL1; 606991 INOSITOL HEXAPHOSPHATE KINASE 1; IHPK1; 606992 INOSITOL HEXAPHOSPHATE KINASE 2; IHPK2; 608069 ERBB RECEPTOR FEEDBACK INHIBITOR 1; ERRFI1; 609383 ICHTHYIN; 609512 CHMP FAMILY, MEMBER 2B; CHMP2B; 610656 CYSTEINE CONJUGATE BETA-LYASE 2; CCBL2; Clinical Synopsis for 600365 ACTIVE BCR-RELATED GENE; ABR

January 23, 2008
New Entries:: 611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5; 611750 SYNCOILIN 1; SYNC1
Changed Entries:: 114106 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, BETA ISOFORM; PPP3CB; 114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC; 115310 PARAGANGLIOMAS 4; PGL4; 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1; 121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1; 143100 HUNTINGTON DISEASE; HD; 143170 MALE-ENHANCED ANTIGEN 1; MEA1; 151623 LI-FRAUMENI SYNDROME 1; LFS1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 159540 LEUKEMIA-INHIBITORY FACTOR; LIF; 161561 INTERLEUKIN 12B; IL12B; 163890 SYNUCLEIN, ALPHA; SNCA; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 187500 TETRALOGY OF FALLOT; 189907 HNF1 HOMEOBOX B; HNF1B; 191170 TUMOR PROTEIN p53; TP53; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 241500 HYPOPHOSPHATASIA, INFANTILE; 249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY; 273750 THREE M SYNDROME; 278850 XX MALE SYNDROME; 516060 ATP SYNTHASE 6; MTATP6; 600013 TRANSCRIPTION FACTOR YY1; YY1; 600104 SYNAPTOTAGMIN 2; SYT2; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600576 GATA-BINDING PROTEIN 4; GATA4; 600725 SONIC HEDGEHOG; SHH; 601021 NUCLEOPORIN, 98-KD; NUP98; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601147 GROWTH/DIFFERENTIATION FACTOR 6; GDF6; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601239 DYSTROBREVIN, ALPHA; DTNA; 601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA ISOFORM 1; PPP3R1; 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 604479 SIRTUIN 1; SIRT1; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 604651 GROWTH/DIFFERENTIATION FACTOR 7; GDF7; 605810 MITOCHONDRIAL RIBOSOMAL PROTEIN S22; MRPS22; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607941 ATRIAL SEPTAL DEFECT 2; ASD2; 608381 CERAMIDE KINASE-LIKE; CERKL; 609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1; 609577 CULLIN 7; CUL7; 611750 SYNCOILIN 1; SYNC1; Clinical Synopsis for 179850 DOWLING-DEGOS DISEASE; DDD; Clinical Synopsis for 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; Clinical Synopsis for 219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I

January 22, 2008
New Entries:: 300688 BCL6 COREPRESSOR-LIKE 1; BCORL1; 611744 OTU DOMAIN-CONTAINING PROTEIN 4; OTUD4; 611745 VCP/p47 COMPLEX-INTERACTING PROTEIN 1; VCPIP1; 611746 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN; 611747 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN; 611748 OTU DOMAIN-CONTAINING PROTEIN 7B; OTUD7B; 611749 ZINC FINGER- AND RAN-BINDING DOMAIN-CONTAINING PROTEIN 1; ZRANB1
Changed Entries:: 105210 AMYLOIDOSIS VII; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 137920 RENAL CYSTS AND DIABETES SYNDROME; 188450 THYROGLOBULIN; TG; 300688 BCL6 COREPRESSOR-LIKE 1; BCORL1; 603017 CADHERIN 17; CDH17; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604312 CYSTATIN 3; CST3; 604484 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; 605078 TAR DNA-BINDING PROTEIN; TARDBP; 608441 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1; 610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8; 611745 VCP/p47 COMPLEX-INTERACTING PROTEIN 1; VCPIP1; Clinical Synopsis for 251450 DESBUQUOIS SYNDROME; DBQD

January 21, 2008
New Entries:: 611721 COMBINED SAPOSIN DEFICIENCY; 611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
Changed Entries:: 109150 MACHADO-JOSEPH DISEASE; MJD; 133430 ESTROGEN RECEPTOR 1; ESR1; 166710 OSTEOPOROSIS; 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1; 176801 PROSAPOSIN; PSAP; 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2; 231670 GLUTARIC ACIDEMIA I; 249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY; 250100 METACHROMATIC LEUKODYSTROPHY; 272750 TAY-SACHS DISEASE, AB VARIANT; 300035 EPHRIN B1; EFNB1; 304110 CRANIOFRONTONASAL SYNDROME; CFNS; 600974 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7; 604144 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),; 604933 MutY, E. COLI, HOMOLOG OF; MUTYH; 606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1; 608089 ENDOMETRIAL CANCER; 608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; 610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY

January 18, 2008
New Entries:: 611732 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 1; MBOAT1; 611733 DAUWERSE-PETERS SYNDROME; 611736 GREB1 PROTEIN; 611737 SEPTIN 10; SEPT10; 611738 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7; 611739 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8; BMND8; 611740 BETA-CAROTENE DIOXYGENASE 2; BCDO2; 611741 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL 3; ACCN3; 611743 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 6;
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4; 114030 CAFE-AU-LAIT SPOTS, MULTIPLE; 114400 MOVED TO 120435; 114500 COLORECTAL CANCER; CRC; 137800 GLIOMA OF BRAIN, FAMILIAL; 155255 MEDULLOBLASTOMA; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 161950 IgA NEPHROPATHY 1; IGAN1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 166710 OSTEOPOROSIS; 210750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6; 226300 ENTEROPATHY, PROTEIN-LOSING; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5; 266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2; 276300 MISMATCH REPAIR CANCER SYNDROME; 300536 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 4; BMND4; 300687 ERCC6-LIKE; ERCC6L; 480000 SEX-DETERMINING REGION Y; SRY; 601784 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 1; ACCN1; 601800 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3; 601808 CHROMOSOME 18q DELETION SYNDROME; 601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 602492 PENTRAXIN 3; PTX3; 603199 INAD-LIKE; INADL; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603781 RECQ PROTEIN-LIKE 5; RECQL5; 603959 CLAUDIN 16; CLDN16; 604045 PROTEIN ARGININE N-METHYLTRANSFERASE 5; PRMT5; 604101 GLUTAMATE RECEPTOR, METABOTROPIC, 7; GRM7; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604475 RETICULON 4; RTN4; 604608 MOVED TO 604609; 604927 C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF,; 605748 BETA-CAROTENE 15,15-PRIME-MONOOXYGENASE 1; BCMO1; 605833 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2; 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12; 606715 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 4; ACCN4; 606807 INTERLEUKIN 17 RECEPTOR D; IL17RD; 606928 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3; 607646 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7B; ZBTB7B; 608089 ENDOMETRIAL CANCER; 608623 MOVED TO 276300; 609354 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 5; BMND5; 609876 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 6; BMND6; 611409 OCA2 GENE; 611664 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7; 611704 TRANSMEMBRANE PROTEASE, SERINE 11A; TMPRSS11A; 611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY; 611712 HOMEODOMAIN-INTERACTING PROTEIN KINASE 4; HIPK4; 611713 TCTEX1 DOMAIN-CONTAINING 4; TCTEX1D4; 611714 GTPase-ACTIVATING PROTEIN AND VPS9 DOMAINS 1; GAPVD1; 611715 STEROID 5-ALPHA-REDUCTASE 3; SRD5A3; 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2; 611718 HYPOMAGNESEMIA 4, RENAL; HOMG4; 611720 CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4; 611723 CHROMOSOME 21 OPEN READING FRAME 24; C21ORF24; 611724 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8; 611727 CHROMOSOME 1 OPEN READING FRAME 76; C1ORF76; 611728 PROTEIN OBSERVED WITH RICTOR 2; 611729 KINESIN, LIGHT CHAIN 2; KLC2; 611730 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 5; EPB41L5; 611732 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 1; MBOAT1; 611734 WD REPEAT-CONTAINING PROTEIN 77; WDR77; 611735 CUB DOMAIN-CONTAINING PROTEIN 1; CDCP1; 611737 SEPTIN 10; SEPT10; 611738 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7; 611739 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8; BMND8

January 17, 2008
New Entries:: 611730 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 5; EPB41L5; 611734 WD REPEAT-CONTAINING PROTEIN 77; WDR77; 611735 CUB DOMAIN-CONTAINING PROTEIN 1; CDCP1
Changed Entries:: 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1; 113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4; 117550 SOTOS SYNDROME; 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1; 138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 160500 MYOPATHY, DISTAL 1; MPD1; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176878 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 4; PTPN4; 184745 KIT LIGAND; KITLG; 210750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5; 266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2; 300629 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-2 SUBUNIT; AP1S2; 300630 MENTAL RETARDATION, X-LINKED 59; MRX59; 601800 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3; 603199 INAD-LIKE; INADL; 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2; 606526 MELANOPHILIN; MLPH; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 606933 TYROSINASE; TYR; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 611409 OCA2 GENE; 611664 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7; 611724 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8; 611730 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 5; EPB41L5

January 16, 2008
New Entries:: 300687 ERCC6-LIKE; ERCC6L; 611724 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; 611727 CHROMOSOME 1 OPEN READING FRAME 76; C1ORF76; 611728 PROTEIN OBSERVED WITH RICTOR 2; 611729 KINESIN, LIGHT CHAIN 2; KLC2
Changed Entries:: 113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; 114400 MOVED TO 120435; 114550 HEPATOCELLULAR CARCINOMA; 116806 CATENIN, BETA-1; CTNNB1; 120435 LYNCH SYNDROME I; 120470 DELETED IN COLORECTAL CARCINOMA; DCC; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 121015 GAP JUNCTION PROTEIN, ALPHA-3; GJA3; 135290 DESMOID DISEASE, HEREDITARY; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 158320 MUIR-TORRE SYNDROME; MTS; 166710 OSTEOPOROSIS; 173470 INTEGRIN, BETA-3; ITGB3; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 184745 KIT LIGAND; KITLG; 192090 CADHERIN 1; CDH1; 193000 VESICOURETERAL REFLUX 1; VUR1; 210750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; 211980 LUNG CANCER; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; 266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; 300504 MENTAL RETARDATION, X-LINKED 52; MRX52; 300642 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2; 600025 KINESIN, LIGHT CHAIN 1; KLC1; 601800 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; 601885 CATARACT, ZONULAR PULVERULENT 3; CZP3; 602879 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 1; EPB41L1; 602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1; 603237 ERYTHROCYTE MEMBRANE PROTEIN 4.1-LIKE 2; EPB41L2; 604425 LIM HOMEOBOX GENE 8; LHX8; 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 606933 TYROSINASE; TYR; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 609406 PROLINE-RICH PROTEIN 5; PRR5; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 609840 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 610154 DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44; 611313 LOC387715 GENE; 611409 OCA2 GENE; 611664 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; 611684 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 3; SART3; 611728 PROTEIN OBSERVED WITH RICTOR 2

January 15, 2008
New Entries:: 611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY; 611723 CHROMOSOME 21 OPEN READING FRAME 24; C21ORF24
Changed Entries:: 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1; 155255 MEDULLOBLASTOMA; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 164740 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 2; ETS2; 165080 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG; ERG; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 177820 PSEUDO-VON WILLEBRAND DISEASE; 188840 TITIN; TTN; 276300 MISMATCH REPAIR CANCER SYNDROME; 277900 WILSON DISEASE; 300272 HISTONE DEACETYLASE 6; HDAC6; 300504 MENTAL RETARDATION, X-LINKED 52; MRX52; 309400 MENKES DISEASE; 600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1; 605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA; 606439 SPG3A GENE; SPG3A; 606693 KUFOR-RAKEB SYNDROME; KRS; 608623 MOVED TO 276300; 608802 L3MBT-LIKE; L3MBTL; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; 610513 ATPase, TYPE 13A2; ATP13A2; 611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY; Clinical Synopsis for 112910 BRACHYDACTYLY, TYPE A6; BDA6; Clinical Synopsis for 153640 FECHTNER SYNDROME; FTNS; Clinical Synopsis for 164745 OMODYSPLASIA; Clinical Synopsis for 184400 SPRENGEL DEFORMITY; Clinical Synopsis for 191440 ULNAR HYPOPLASIA; Clinical Synopsis for 212720 MARTSOLF SYNDROME; Clinical Synopsis for 271530 SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA; Clinical Synopsis for 271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE; Clinical Synopsis for 601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,; Clinical Synopsis for 605249 SEBASTIAN SYNDROME; SBS

January 14, 2008
Changed Entries:: 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1; 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; 174763 POLYMERASE, DNA, GAMMA; POLG; 176640 PRION PROTEIN; PRNP; 191170 TUMOR PROTEIN p53; TP53; 255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD; 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A; 300401 PROTEOLIPID PROTEIN 1; PLP1; 312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; 480000 SEX-DETERMINING REGION Y; SRY; 600072 FATAL FAMILIAL INSOMNIA; FFI; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH; Clinical Synopsis for 153650 EPSTEIN SYNDROME; Clinical Synopsis for 155100 MAY-HEGGLIN ANOMALY; MHA; Clinical Synopsis for 182250 SINGLETON-MERTEN SYNDROME; Clinical Synopsis for 271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE

January 11, 2008
Changed Entries:: 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 191170 TUMOR PROTEIN p53; TP53; 209850 AUTISM; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300012 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF; 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A; 603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4; 607576 CAT EYE SYNDROME CHROMOSOME REGION, CANDIDATE 2; CECR2; Clinical Synopsis for 255980 NASODIGITOACOUSTIC SYNDROME

January 10, 2008
Changed Entries:: 602866 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 2; ACCN2; 611704 TRANSMEMBRANE PROTEASE, SERINE 11A; TMPRSS11A

January 9, 2008
New Entries:: 611718 HYPOMAGNESEMIA 4, RENAL; HOMG4; 611720 CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4; Clinical Synopsis for 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
Changed Entries:: 107740 APOLIPOPROTEIN D; APOD; 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA; 131530 EPIDERMAL GROWTH FACTOR; EGF; 146738 INSULIN-LIKE 3; INSL3; 154020 HYPOMAGNESEMIA 2, RENAL; HOMG2; 229300 FRIEDREICH ATAXIA 1; FRDA; 248250 HYPOMAGNESEMIA 3, RENAL; HOMG3; 600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2; 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 602681 FORKHEAD BOX O3A; FOXO3A; 606829 FRATAXIN; FXN; 607009 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6;; 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; Clinical Synopsis for 115150 CARDIOFACIOCUTANEOUS SYNDROME; Clinical Synopsis for 218040 COSTELLO SYNDROME

January 8, 2008
New Entries:: 611704 TRANSMEMBRANE PROTEASE, SERINE 11A; TMPRSS11A; 611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH
Changed Entries:: 116880 CATHEPSIN L; CTSL; 163950 NOONAN SYNDROME 1; NS1; 173470 INTEGRIN, BETA-3; ITGB3; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 227220 EYE COLOR 3; EYCL3; 232300 GLYCOGEN STORAGE DISEASE II; 600064 HAIR FOLLICLE-SPECIFIC GENE 1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601800 HAIR COLOR 3; HCL3; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602378 DYNAMIN 2; DNM2; 603959 CLAUDIN 16; CLDN16; 604161 G PROTEIN-COUPLED RECEPTOR 54; GPR54; 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; 607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2; 608984 ATAXIA, SENSORY, AUTOSOMAL DOMINANT; 611409 OCA2 GENE; 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2; 611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH

January 7, 2008
New Entries:: 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2
Changed Entries:: 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; 117000 CENTRAL CORE DISEASE OF MUSCLE; 119300 VAN DER WOUDE SYNDROME; VWS; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 163890 SYNUCLEIN, ALPHA; SNCA; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 166710 OSTEOPOROSIS; 168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1; 173470 INTEGRIN, BETA-3; ITGB3; 188550 THYROID CARCINOMA, PAPILLARY; 192130 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A1; ATP6V0A1; 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A; 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD; 300100 ADRENOLEUKODYSTROPHY; ALD; 313700 ANDROGEN RECEPTOR; AR; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 603717 ATPase, H+ TRANSPORTING, LYSOSOMAL, 21-KD, V0 SUBUNIT C-PRIME, PRIME;; 604592 T CELL IMMUNE REGULATOR 1; TCIRG1; 605239 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4; 605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4; 606800 GLUCOSIDASE, ALPHA, ACID; GAA; 607136 SPINOCEREBELLAR ATAXIA 17; SCA17; 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION

January 4, 2008
New Entries:: 611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA; 611715 STEROID 5-ALPHA-REDUCTASE 3; SRD5A3
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 114550 HEPATOCELLULAR CARCINOMA; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 137215 GASTRIC CANCER; 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1; 146920 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 158320 MUIR-TORRE SYNDROME; MTS; 158350 COWDEN DISEASE; CD; 161561 INTERLEUKIN 12B; IL12B; 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL; 175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1; 184753 STEROID 5-ALPHA-REDUCTASE 1; SRD5A1; 207790 ARACHNOID CYSTS, INTRACRANIAL; 211980 LUNG CANCER; 229300 FRIEDREICH ATAXIA 1; FRDA; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 300536 BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 4; BMND4; 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS; 300685 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 3; PRRG3; 300686 MICRO RNA 448; MIRN448; 308350 INFANTILE SPASM SYNDROME, X-LINKED; 516060 ATP SYNTHASE 6; MTATP6; 600807 ASTHMA, SUSCEPTIBILITY TO; 601884 BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 1; BMND1; 602640 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 1; NAALADL1; 604432 SPINOCEREBELLAR ATAXIA 11; SCA11; 605096 PROSTATE CANCER-ASSOCIATED PROTEIN 5; PCANAP5; 605833 BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 2; BMND2; 606825 TUMOR ENDOTHELIAL MARKER 6; 606928 BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 3; BMND3; 607026 NEURON NAVIGATOR 2; NAV2; 609207 MELANOREGULIN; MREG; 609354 BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 5; BMND5; 609876 BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 6; BMND6; 611630 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE; FMTLE; 611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4; 611632 UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1; 611633 RTF1, S. CEREVISIAE, HOMOLOG OF; RTF1; 611634 FEBRILE CONVULSIONS, FAMILIAL, 9; FEB9; 611635 NEUROGENIC DIFFERENTIATION 4; NEUROD4; 611636 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE 2; NAALAD2; 611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5; 611681 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 611684 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 3; SART3; 611685 RING FINGER PROTEIN 8; RNF8; 611686 CAS1 DOMAIN-CONTAINING PROTEIN 1; CASD1; 611687 CHROMOSOME 6 OPEN READING FRAME 221; C6ORF221; 611688 KH HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; KHDC1; 611689 OOCYTE-EXPRESSED PROTEIN, DOG, HOMOLOG OF; OOEP; 611690 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 4; PRRG4; 611691 SUSHI, VON WILLEBRAND FACTOR TYPE A, EGF, AND PENTRAXIN DOMAINS-CONTAINING; 611692 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 34; ZBTB34; 611693 ADIPOCYTE-SPECIFIC ADHESION MOLECULE; 611695 TAU TUBULIN KINASE 2; TTBK2; 611696 SOLUTE CARRIER FAMILY 22, MEMBER 20; SLC22A20; 611697 CHROMOSOME 6 OPEN READING FRAME 85; C6ORF85; 611698 SOLUTE CARRIER FAMILY 22, MEMBER 24; 611699 SV2-RELATED PROTEIN; SVOP; 611700 SV2-RELATED PROTEIN-LIKE; SVOPL; 611701 SPINSTER, DROSOPHILA, HOMOLOG OF, 3; SPNS3; 611703 ZINC FINGER PROTEIN 436; ZNF436; 611707 MYELIN PROTEIN ZERO-LIKE 3; MPZL3; 611708 MICRO RNA 431; MIRN431; 611709 MICRO RNA 127; MIRN127; 611710 MICRO RNA 136; MIRN136; 611711 MICRO RNA 433; MIRN433; 611713 TCTEX1 DOMAIN-CONTAINING 4; TCTEX1D4; 611714 GTPase-ACTIVATING PROTEIN AND VPS9 DOMAINS 1; GAPVD1; 611715 STEROID 5-ALPHA-REDUCTASE 3; SRD5A3

January 3, 2008
New Entries:: 611712 HOMEODOMAIN-INTERACTING PROTEIN KINASE 4; HIPK4; 611713 TCTEX1 DOMAIN-CONTAINING 4; TCTEX1D4; 611714 GTPase-ACTIVATING PROTEIN AND VPS9 DOMAINS 1; GAPVD1
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 603406 TRIPARTITE MOTIF-CONTAINING PROTEIN 24; TRIM24; 604312 CYSTATIN 3; CST3; 604608 MOVED TO 604609; 604609 MUCIN 12; MUC12; 608003 HOMEODOMAIN-INTERACTING PROTEIN KINASE 1; HIPK1; 611714 GTPase-ACTIVATING PROTEIN AND VPS9 DOMAINS 1; GAPVD1

January 2, 2008
New Entries:: 300686 MICRO RNA 448; MIRN448; 611707 MYELIN PROTEIN ZERO-LIKE 3; MPZL3; 611708 MICRO RNA 431; MIRN431; 611709 MICRO RNA 127; MIRN127; 611710 MICRO RNA 136; MIRN136; 611711 MICRO RNA 433; MIRN433
Changed Entries:: 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; 146920 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR; 147640 INTERFERON, BETA-1; IFNB1; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 166710 OSTEOPOROSIS, INVOLUTIONAL; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 300685 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 3; PRRG3; 312861 5-@HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 601059 MOVED TO 146920; 601218 ADENOSINE DEAMINASE, RNA-SPECIFIC, B1; ADARB1; 602065 ADENOSINE DEAMINASE, RNA-SPECIFIC, B2; ADARB2; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 604230 ADENOSINE DEAMINASE, tRNA-SPECIFIC, 1; ADAT1; 604873 MYELIN PROTEIN ZERO-LIKE 2; MPZL2; 604990 SOLUTE CARRIER FAMILY 9, ISOFORM A3, REGULATORY FACTOR 1; SLC9A3R1; 606364 SPINOCEREBELLAR ATAXIA 16; SCA16; 606750 Z-DNA BINDING PROTEIN 1; ZBP1; 607280 CONTACTIN 4; CNTN4; 608632 MICRO RNA 196A1; MIRN196A1; 609313 ERYTHROKERATODERMIA VARIABILIS 3; 609582 MICRO RNA 122A; MIRN122A; 610945 MICRO RNA 296; MIRN296; 611122 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 28; ANKRD28; 611454 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 2; ALSFTD2; Clinical Synopsis for 176920 PROTEUS SYNDROME; Clinical Synopsis for 225500 ELLIS-VAN CREVELD SYNDROME; EVC

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

OMIM Update List for January, 2008

January 31, 2008

January 30, 2008

January 29, 2008

January 28, 2008

January 25, 2008

January 24, 2008

January 23, 2008

January 22, 2008

January 21, 2008

January 18, 2008

January 17, 2008

January 16, 2008

January 15, 2008

January 14, 2008

January 11, 2008

January 10, 2008

January 9, 2008

January 8, 2008

January 7, 2008

January 4, 2008

January 3, 2008

January 2, 2008