OMIM Update List for December, 2006

PubMed

Nucleotide

Protein

Genome

OMIM Update List for December, 2006

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December 29, 2006
New Entries:: 300631 TRANSMEMBRANE PROTEIN 27; TMEM27
Changed Entries:: 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 153100 LYMPHEDEMA, HEREDITARY, I; 243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; 248300 MAL DE MELEDA; 300631 TRANSMEMBRANE PROTEIN 27; TMEM27; 602935 FATTY ACID AMIDE HYDROLASE; FAAH; 610674 CHROMOSOME 20 OPEN READING FRAME 28; C20ORF28

December 28, 2006
New Entries:: 610672 BTB/POZ DOMAIN-CONTAINING PROTEIN 14B; BTBD14B; 610673 CHROMOSOME 9 OPEN READING FRAME 90; C9ORF90; 610674 CHROMOSOME 20 OPEN READING FRAME 28; C20ORF28
Changed Entries:: 160900 DYSTROPHIA MYOTONICA 1; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 300256 17-@BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 10; HSD17B10; 300438 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II, DEFICIENCY; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 606516 MUSCLEBLIND-LIKE PROTEIN 1; MBNL1; 608400 USH2A GENE; USH2A; 608530 BTB/POZ DOMAIN-CONTAINING PROTEIN 1; BTBD1; 610386 BTB/POZ DOMAIN-CONTAINING PROTEIN 7; BTBD7; 610672 BTB/POZ DOMAIN-CONTAINING PROTEIN 14B; BTBD14B

December 27, 2006
Changed Entries:: 101200 APERT SYNDROME; 153650 EPSTEIN SYNDROME; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 164280 FEINGOLD SYNDROME; 164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT; 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA; 265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; 600057 EXSTROPHY OF BLADDER; 602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE; 605442 WILMS TUMOR 1-ASSOCIATING PROTEIN

December 22, 2006
New Entries:: 610670 CYTOCHROME P450, FAMILY 2, SUBFAMILY U, POLYPEPTIDE 1; CYP2U1; 610671 ZINC FINGER PROTEIN 628; ZNF628
Changed Entries:: 243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4; 602386 ZINC FINGER PROTEIN 212; ZNF212; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 610671 ZINC FINGER PROTEIN 628; ZNF628

December 21, 2006
New Entries:: 610655 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4; 610667 UBIQUITIN CARBOXYL-TERMINAL HYDROLASE L5; UCHL5; 610668 INSCUTEABLE, DROSOPHILA, HOMOLOG OF; INSC; 610669 TNFAIP3-INTERACTING PROTEIN 2; TNIP2
Changed Entries:: 114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1; 134370 COMPLEMENT FACTOR H; CFH; 147100 IgG HEAVY CHAIN LOCUS; IGHG1; 154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8; 300032 ATR-X GENE; ATRX; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; 311050 OPTIC ATROPHY 2; OPA2; 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM; 605515 FORKHEAD BOX P1; FOXP1; 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4; 610667 UBIQUITIN CARBOXYL-TERMINAL HYDROLASE L5; UCHL5

December 20, 2006
New Entries:: 610662 PHOSPHATIDYLINOSITOL GLYCAN, CLASS Y; PIGY; 610664 BREAST CANCER-OVEREXPRESSED GENE 1; 610665 Fc FRAGMENT OF IgG, LOW AFFINITY IIIb, RECEPTOR FOR; FCGR3B; 610666 NEURENSIN 2; NRSN2
Changed Entries:: 124092 INTERLEUKIN 10; IL10; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 147557 INTEGRIN, BETA-4; ITGB4; 150310 LAMININ, BETA-3; LAMB3; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 300169 PROGRAMMED CELL DEATH 8; PDCD8; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 602576 LUNATIC FRINGE; LFNG; 602769 DNA METHYLTRANSFERASE 3A; DNMT3A; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 604762 SWITCH-ASSOCIATED PROTEIN 70; 605345 AlkB, E. COLI, HOMOLOG OF, 1; ALKBH1; 605350 INTERLEUKIN 27 RECEPTOR, ALPHA; IL27RA; 605442 WILMS TUMOR 1-ASSOCIATING PROTEIN; 605657 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 11; FBXL11; 606048 LEUKOCYTE RECEPTOR CLUSTER GENE 4; LENG4; 608273 INTERLEUKIN 27; IL27; 608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12; 610323 METADHERIN; MTDH

December 19, 2006
New Entries:: 610660 NUCLEAR PROTEIN, 60-KD; 610661 N-GLYCANASE 1; NGLY1; 610663 SET AND MYND DOMAIN-CONTAINING PROTEIN 2; SMYD2
Changed Entries:: 603156 BIPHENYL HYDROLASE-LIKE; BPHL; 605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14; 605938 PHOSPHATIDYLINOSITOL GLYCAN, CLASS P; PIGP; 608090 MLX-INTERACTING PROTEIN; MLXIP; 608572 BURN-MCKEOWN SYNDROME; 610332 OCULOOTOFACIAL DYSPLASIA; 610660 NUCLEAR PROTEIN, 60-KD

December 18, 2006
New Entries:: 610649 BONE SIZE QUANTITATIVE TRAIT LOCUS 3; 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB; 610656 KYNURENINE AMINOTRANSFERASE III; 610657 KIAA0196 GENE; KIAA0196; 610658 TRIPARTITE MOTIF-CONTAINING PROTEIN 29; TRIM29; 610659 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 1; GRID1
Changed Entries:: 103275 ADRENOMEDULLIN; ADM; 108300 STICKLER SYNDROME, TYPE I; STL1; 113705 BREAST CANCER 1 GENE; BRCA1; 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3; 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 228000 FARBER LIPOGRANULOMATOSIS; 251500 MOVED TO 600118; 256000 LEIGH SYNDROME; LS; 276400 TWINNING, DIZYGOTIC; 313700 ANDROGEN RECEPTOR; AR; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 516001 COMPLEX I, SUBUNIT ND2; MTND2; 600118 WARBURG MICRO SYNDROME; WARBM; 600547 CYSTEINE CONJUGATE BETA-LYASE 1; CCBL1; 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1; 604843 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1; 605549 CONE-ROD DYSTROPHY 8; CORD8; 605917 CHROMOSOME 20 OPEN READING FRAME 1; C20ORF1; 607292 SEMAPHORIN 4A; SEMA4A; 607393 HRPT2 GENE; HRPT2; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6; 609279 CENTROMERIC PROTEIN J; CENPJ; 609656 BONE SIZE QUANTITATIVE TRAIT LOCUS 1; 609657 BONE SIZE QUANTITATIVE TRAIT LOCUS 2; 610572 MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2; 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB; 610656 KYNURENINE AMINOTRANSFERASE III; Clinical Synopsis for 600057 EXSTROPHY OF BLADDER

December 15, 2006
New Entries:: 610652 PHOSPHODIESTERASE 10A; PDE10A; 610653 NUCLEOLAR PROTEIN, 52-KD; 610654 KIAA0179 GENE; KIAA0179
Changed Entries:: 115700 CATARACT, CRYSTALLINE ACULEIFORM; 116600 CATARACT, POSTERIOR POLAR, 1; 123580 CRYSTALLIN, ALPHA-A; CRYAA; 123590 CRYSTALLIN, ALPHA-B; CRYAB; 123690 CRYSTALLIN, GAMMA-D; CRYGD; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 138900 GOUT SUSCEPTIBILITY 1; 142461 HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2; 143200 WAGNER SYNDROME 1; WGN1; 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1; 248200 STARGARDT DISEASE 1; STGD1; 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; 256710 ELEJALDE DISEASE; 600547 CYSTEINE CONJUGATE BETA-LYASE; 600966 LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 1; LLGL1; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1; 602727 CHLORIDE CHANNEL 7; CLCN7; 604961 PHOSPHODIESTERASE 11A; PDE11A; 605387 CATARACT, POSTERIOR POLAR, 3; 605478 SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN; SIGIRR; 606058 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAPGEF4; 606416 CIAS1 GENE; CIAS1; 606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A; 607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1; 609245 G PROTEIN SIGNALING MODULATOR 2; GPSM2; 610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2; 610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1; 610623 CATARACT, POSTERIOR POLAR, 4; CTPP4; 610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND; Clinical Synopsis for 133540 COCKAYNE SYNDROME, TYPE B; CSB; Clinical Synopsis for 216400 COCKAYNE SYNDROME, TYPE A; CSA

December 14, 2006
New Entries:: Clinical Synopsis for 300624 FRAGILE X MENTAL RETARDATION SYNDROME; Clinical Synopsis for 610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
Changed Entries:: 114480 BREAST CANCER; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 152950 LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME; 156590 CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME; 157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD; MTP; 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1; 176807 PROSTATE CANCER; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 245200 KRABBE DISEASE; 250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV; 251270 MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE; 300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 606120 HUMANIN; 606890 GALACTOSYLCERAMIDASE; GALC; 610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1; Clinical Synopsis for 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA; Clinical Synopsis for 107480 TOWNES-BROCKS SYNDROME; TBS; Clinical Synopsis for 109150 MACHADO-JOSEPH DISEASE; MJD; Clinical Synopsis for 115150 CARDIOFACIOCUTANEOUS SYNDROME; Clinical Synopsis for 123150 JACKSON-WEISS SYNDROME; JWS; Clinical Synopsis for 185800 SYMPHALANGISM, PROXIMAL; SYM1; Clinical Synopsis for 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1; Clinical Synopsis for 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE; Clinical Synopsis for 203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY; Clinical Synopsis for 225500 ELLIS-VAN CREVELD SYNDROME; EVC; Clinical Synopsis for 253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD; Clinical Synopsis for 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; Clinical Synopsis for 304150 CUTIS LAXA, X-LINKED; Clinical Synopsis for 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; Clinical Synopsis for 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD

December 13, 2006
New Entries:: 610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY; 610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1; 610650 ADHESION-REGULATING MOLECULE 1; ADRM1
Changed Entries:: 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4; 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA; 118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1; 123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 126350 DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2; 136880 FUNDUS ALBIPUNCTATUS; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 142982 HOMEOBOX D9; HOXD9; 142984 HOMEOBOX D10; HOXD10; 142986 HOMEOBOX D11; HOXD11; 142988 HOMEOBOX D12; HOXD12; 142989 HOMEOBOX D13; HOXD13; 145500 HYPERTENSION, ESSENTIAL; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 164035 NUCLEOLIN; NCL; 165070 FMS-RELATED TYROSINE KINASE 1; FLT1; 169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM; 170710 PERIPHERIN; PRPH; 179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2; 180100 RETINITIS PIGMENTOSA 1; RP1; 180300 RHEUMATOID ARTHRITIS; RA; 180721 ROD OUTER SEGMENT PROTEIN 1; ROM1; 191160 TUMOR NECROSIS FACTOR; TNF; 201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA; 201750 POR DEFICIENCY; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE; 203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY; 207410 ANTLEY-BIXLER SYNDROME; ABS; 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 600132 RETINITIS PIGMENTOSA 14; RP14; 600725 SONIC HEDGEHOG; SHH; 600852 RETINITIS PIGMENTOSA 17; RP17; 601278 FSHD GENE 1; FRG1; 602093 CONE DYSTROPHY 3; COD3; 603649 CONE-ROD DYSTROPHY 7; CORD7; 603937 RP1 GENE; RP1; 605477 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 7; ARHGEF7; 605670 LATE-ONSET RETINAL DEGENERATION; LORD; 608133 RETINITIS PIGMENTOSA 7; RP7; 608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET; 608797 MEI1, MOUSE, HOMOLOG OF; 608970 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2; 609032 FSHD GENE 2; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1

December 12, 2006
New Entries:: 610642 ENDOPLASMIC RETICULUM PROTEIN, 27-KD; 610643 KIAA1524 GENE; KIAA1524; 610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND; 610645 CALCIUM- AND INTEGRIN-BINDING PROTEIN 3; CIB3; 610646 CALCIUM- AND INTEGRIN-BINDING PROTEIN 4; 610647 N-ACETYLTRANSFERASE 8-LIKE; NAT8L; 610648 CUT-LIKE 2; CUTL2
Changed Entries:: 116896 CUT-LIKE 1; CUTL1; 119580 BLEPHAROCHEILODONTIC SYNDROME; 137141 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4; 164280 FEINGOLD SYNDROME; 181600 SCLEROTYLOSIS; 223370 DUBOWITZ SYNDROME; 251270 MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE; 300037 GLYPICAN 3; GPC3; 300602 CLARK-BARAITSER SYNDROME; 304050 AICARDI SYNDROME; AIC; 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; 600990 REMOVED FROM DATABASE; 602293 CALCIUM- AND INTEGRIN-BINDING PROTEIN 1; CIB1; 602341 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16; 604322 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 605564 CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2; 606232 CHROMOSOME 22q13.3 DELETION SYNDROME; 607147 POLIOVIRUS RECEPTOR-LIKE 3; PVRL3; 607546 CD200 RECEPTOR 1; CD200R1; 608190 N-ACETYLTRANSFERASE 8B; NAT8B; 609595 R-SPONDIN FAMILY, MEMBER 1; RSPO1; 609981 NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; 610382 PROSOPAGNOSIA, HEREDITARY; 610642 ENDOPLASMIC RETICULUM PROTEIN, 27-KD; 610643 KIAA1524 GENE; KIAA1524; 610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND; 610646 CALCIUM- AND INTEGRIN-BINDING PROTEIN 4; Clinical Synopsis for 256000 LEIGH SYNDROME; LS

December 11, 2006
New Entries:: 610638 JUNCTIONAL ADHESION MOLECULE 4; 610639 GRID2-INTERACTING PROTEIN 1; GRID2IP1; 610640 YTH DOMAIN FAMILY MEMBER 2; YTHDF2; 610641 TERMINAL URIDYLYL TRANSFERASE 1, U6 snRNA-SPECIFIC; TUT1
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA; 125645 DESMOCOLLIN 2; DSC2; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 152430 LONGEVITY; 152950 LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME; 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1; 164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 202700 NEUTROPENIA, SEVERE CONGENITAL; SCN; 226750 KOHLSCHUTTER-TONZ SYNDROME; 601253 CAVEOLIN 3; CAV3; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 601922 ANGIOPOIETIN 2; ANGPT2; 603891 FIBROBLAST GROWTH FACTOR 19; FGF19; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1; 607439 PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2; 608674 SH3 DOMAIN PROTEIN 19; 610568 ZINC FINGER PROTEIN 687; ZNF687; 610636 MICRO RNA 27B; MIRN27B; 610640 YTH DOMAIN FAMILY MEMBER 2; YTHDF2

December 8, 2006
New Entries:: 300629 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-2 SUBUNIT; AP1S2; 300630 MENTAL RETARDATION, X-LINKED 59; MRX59; 610634 CATARACT, POSTERIOR POLAR, 5; CTPP5; 610635 COLLAGEN TRIPLE-HELIX REPEAT-CONTAINING PROTEIN 1; CTHRC1; 610636 MICRO RNA 27B; MIRN27B; 610637 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 5; MARCH5
Changed Entries:: 116600 CATARACT, POSTERIOR POLAR 1; 116700 CATARACT, TOTAL CONGENITAL; CC; 116800 CATARACT, LAMELLAR; 138079 GLUCOKINASE; GCK; 138090 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD; 182290 SMITH-MAGENIS SYNDROME; SMS; 300392 WAS GENE; WAS; 301000 WISKOTT-ALDRICH SYNDROME; WAS; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1; 602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7; 603532 MOVED TO 300629; 603534 ADAPTOR-RELATED PROTEIN COMPLEX 1, GAMMA-2 SUBUNIT; AP1G2; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605387 CATARACT, POSTERIOR POLAR 3; 607642 RETINOIC ACID-INDUCED GENE 1; RAI1; 608208 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 4; MARCH4; 609704 MICRO RNA 16-1; MIRN16-1; 610623 CATARACT, POSTERIOR POLAR 4; CTPP4

December 7, 2006
New Entries:: 610630 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 20A; PTPN20A; 610631 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 20B; PTPN20B; 610632 EF-HAND DOMAIN FAMILY, MEMBER A1; EFHA1; 610633 EF-HAND DOMAIN FAMILY, MEMBER A2; EFHA2
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1; 120700 COMPLEMENT COMPONENT 3; C3; 126452 DOPAMINE RECEPTOR D4; DRD4; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR; 163890 SYNUCLEIN, ALPHA; SNCA; 164012 NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2; 164210 HEMIFACIAL MICROSOMIA; HFM; 168600 PARKINSON DISEASE; PD; 177650 PSEUDOEXFOLIATION OF THE LENS; 179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1; 179605 RDS, MOUSE, HOMOLOG OF; RDS; 180721 ROD OUTER SEGMENT PROTEIN 1; ROM1; 182940 NEURAL TUBE DEFECTS; 188400 DIGEORGE SYNDROME; DGS; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 190090 V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENE; SRC; 192430 VELOCARDIOFACIAL SYNDROME; 193220 VITREORETINOCHOROIDOPATHY; VRCP; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2; 225400 EHLERS-DANLOS SYNDROME, TYPE VI; 233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,; 256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5; 600225 GTP CYCLOHYDROLASE I; GCH1; 600570 CHLORIDE CHANNEL 2; CLCN2; 600921 FIBROBLAST GROWTH FACTOR 9; FGF9; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; 601693 UNCOUPLING PROTEIN 2; UCP2; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 603286 KISS1 METASTASIS SUPPRESSOR; KISS1; 603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1; 604161 G PROTEIN-COUPLED RECEPTOR 54; GPR54; 604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1; 605558 FIBROBLAST GROWTH FACTOR 20; FGF20; 605645 RESISTIN-LIKE PROTEIN, BETA; RETNLB; 605907 ALG1, YEAST, HOMOLOG OF; ALG1; 606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3; 606890 GALACTOSYLCERAMIDASE; GALC; 607059 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4; SLC39A4; 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C; 607822 ALZHEIMER DISEASE 3; 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

December 6, 2006
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 106150 ANGIOTENSIN I; AGT; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 120810 COMPLEMENT COMPONENT 4A; C4A; 131210 SELECTIN E; SELE; 138470 COMPLEMENT FACTOR B; CFB; 147950 KALLMANN SYNDROME 2; KAL2; 153240 SELECTIN L; SELL; 158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14; 161950 IgA NEPHROPATHY 1; IGAN1; 173880 POLYMERIC IMMUNOGLOBULIN RECEPTOR; PIGR; 600220 PHOSPHOLIPASE C, GAMMA-2; PLCG2; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 602719 SPLICING FACTOR, ARGININE/SERINE-RICH, 10; SFRS10; 603149 INTERLEUKIN 17A; IL17A; 604116 CONE-ROD DYSTROPHY 3; CORD3; 604515 B-CELL LINKER PROTEIN; BLNK; 604721 SH2 DOMAIN-CONTAINING PROTEIN 3A; SH2D3A; 605350 INTERLEUKIN 27 RECEPTOR, ALPHA; IL27RA; 605536 RAB11 FAMILY-INTERACTING PROTEIN 5; RAB11FIP5; 605570 RAS-ASSOCIATED PROTEIN RAB11A; RAB11A; 605816 EPSTEIN-BARR VIRUS-INDUCED GENE 3; EBI3; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606516 MUSCLEBLIND-LIKE PROTEIN 1; MBNL1; 606831 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 12; CARD12; 607899 WIT1 GENE; 608273 INTERLEUKIN 27; IL27; 608599 RAB11 FAMILY-INTERACTING PROTEIN 2; RAB11FIP2; 608737 RAB11 FAMILY-INTERACTING PROTEIN 1; RAB11FIP1; 608738 RAB11 FAMILY-INTERACTING PROTEIN 3; RAB11FIP3; 610243 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27

December 5, 2006
New Entries:: 610628 KALLMANN SYNDROME 4; KAL4; 610629 DIAMOND-BLACKFAN ANEMIA 3
Changed Entries:: 105650 DIAMOND-BLACKFAN ANEMIA; DBA; 118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147061 IMMUNOGLOBULIN E CONCENTRATION, SERUM; IGES; 147138 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 2; MS4A2; 147950 KALLMANN SYNDROME 2; KAL2; 188400 DIGEORGE SYNDROME; DGS; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 191525 URACIL-DNA GLYCOSYLASE; UNG; 192430 VELOCARDIOFACIAL SYNDROME; 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3; 244200 KALLMANN SYNDROME 3; KAL3; 256000 LEIGH SYNDROME; LS; 308700 KALLMANN SYNDROME 1; KAL1; 600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2; 600185 BREAST CANCER 2 GENE; BRCA2; 600390 UPSTREAM STIMULATORY FACTOR 2; USF2; 600554 INTERLEUKIN 15; IL15; 601205 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; SIX1; 602412 RIBOSOMAL PROTEIN S24; RPS24; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 605747 LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1; 607002 PROKINETICIN 2; PROK2; 607102 WILMS TUMOR 1 GENE; WT1; 607122 PROKINETICIN RECEPTOR 1; PROKR1; 607123 PROKINETICIN RECEPTOR 2; PROKR2; 607426 COENZYME Q10 DEFICIENCY; 610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2

December 4, 2006
Changed Entries:: 106100 ANGIOEDEMA, HEREDITARY; HAE; 116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2; 139320 GNAS COMPLEX LOCUS; GNAS; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147780 INTERLEUKIN 4; IL4; 153440 LYMPHOTOXIN-ALPHA; LTA; 173610 SELECTIN P; SELP; 176891 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1; PTPRZ1; 182290 SMITH-MAGENIS SYNDROME; SMS; 191160 TUMOR NECROSIS FACTOR; TNF; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600807 ASTHMA, SUSCEPTIBILITY TO; 601367 STROKE, ISCHEMIC; 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3; 603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1; 607752 URACIL-DNA GLYCOSYLASE 2; UNG2; 610192 GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3; 610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; 610608 GINS COMPLEX SUBUNIT 1; GINS1; 610609 GINS COMPLEX SUBUNIT 2; GINS2; 610610 GINS COMPLEX SUBUNIT 3; GINS3; 610611 GINS COMPLEX SUBUNIT 4; GINS4

December 1, 2006
New Entries:: 610618 ANGIOEDEMA, HEREDITARY, TYPE III; HAE III; 610619 COAGULATION FACTOR XII; F12; 610623 CATARACT, POSTERIOR POLAR 4; CTPP4; 610626 PPAP2 DOMAIN-CONTAINING PROTEIN 1B; PPAPDC1B; 610627 ALPHA-2-MACROGLOBULIN-LIKE 1; A2ML1
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD; 116600 CATARACT, POSTERIOR POLAR 1; 118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1; 120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2; 123590 CRYSTALLIN, ALPHA-B; CRYAB; 131290 ENGRAILED 1; EN1; 131310 ENGRAILED 2; EN2; 134570 FACTOR XIII, A1 SUBUNIT; F13A1; 137141 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 167414 PAIRED BOX GENE 5; PAX5; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 188040 THROMBOMODULIN; THBD; 190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1; 234000 FACTOR XII DEFICIENCY; 300268 MOVED TO 610618; 300294 MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 2; MBTPS2; 300353 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 4; VSIG4; 600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2; 600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2; 600756 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-PRIME; PPP2R4; 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3; 600970 MYOSIN VI; MYO6; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602533 ONCOGENE DJ1; 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3; 603054 GREMLIN 1 HOMOLOG, CYSTEINE KNOT SUPERFAMILY; GREM1; 603317 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ; 604325 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 604552 HEPATOCYTE GROWTH FACTOR ACTIVATOR; HGFAC; 604931 CORTISONE REDUCTASE DEFICIENCY; 604941 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, ALPHA; PPP2R2A; 605072 GAIP C-TERMINUS-INTERACTING PROTEIN 1; GIPC1; 605383 INTERLEUKIN 21 RECEPTOR; IL21R; 605387 CATARACT, POSTERIOR POLAR 3; 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1; 605997 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, GAMMA ISOFORM; PPP2R2C; 609902 MOVED TO 603317

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OMIM Update List for December, 2006

December 29, 2006

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