OMIM Update List for December, 2007

PubMed

Nucleotide

Protein

Genome

OMIM Update List for December, 2007

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December 28, 2007
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 107269 CD44 ANTIGEN; CD44; 143100 HUNTINGTON DISEASE; HD; 180300 RHEUMATOID ARTHRITIS; RA; 191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU; 309530 MENTAL RETARDATION, X-LINKED 1; MRX1; 601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2; 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1; 602666 MYOSIN XVA; MYO15A; 603073 ZINC FINGER PROTEIN OF CEREBELLUM, 2; ZIC2; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 605242 USH1C GENE; USH1C; 605284 TSC1 GENE; TSC1; 605526 ALZHEIMER DISEASE 6; 607696 USH1G GENE; USH1G; 607844 LEM DOMAIN-CONTAINING PROTEIN 3; LEMD3; 607928 WHIRLIN; WHRN

December 27, 2007
Changed Entries:: 120700 COMPLEMENT COMPONENT 3; C3; 134370 COMPLEMENT FACTOR H; CFH; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS; 600861 REGULATOR OF G PROTEIN SIGNALING 2; RGS2; 601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1; 602265 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 9;; 611595 THIOREDOXIN-LIKE 4A; TXNL4A; Clinical Synopsis for 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

December 26, 2007
New Entries:: 611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE; 611703 ZINC FINGER PROTEIN 436; ZNF436
Changed Entries:: 107941 ARRESTIN, BETA, 2; ARRB2; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 116947 CELL DIVISION CYCLE 25A; CDC25A; 133430 ESTROGEN RECEPTOR 1; ESR1; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3; 154365 PROTEASOME 26S SUBUNIT, ATPase, 2; PSMC2; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 191339 UBIQUITIN B; UBB; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 600140 CREB-BINDING PROTEIN; CREBBP; 600185 BRCA2 GENE; BRCA2; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602210 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT E; EIF3E; 602278 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4;; 602303 p300/CBP-ASSOCIATED FACTOR; PCAF; 602544 PARKIN; PARK2; 602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604990 SOLUTE CARRIER FAMILY 9, ISOFORM A3, REGULATORY FACTOR 1; SLC9A3R1; 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1; 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2; 607058 GAP JUNCTION PROTEIN, DELTA-2; GJD2; 607425 GAP JUNCTION PROTEIN, DELTA-3; GJD3; 608655 GAP JUNCTION PROTEIN, GAMMA-1; GJC1; 608803 GAP JUNCTION PROTEIN, GAMMA-2; GJC2; 609818 UBIQUITIN-SPECIFIC PROTEIN 10; USP10; 609867 UBIQUITIN-LIKE DOMAIN-CONTAINING CTD PHOSPHATASE 1; UBLCP1; 610355 PARTNER AND LOCALIZER OF BRCA2; PALB2; 610451 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 35; LRRC35; 610543 CHROMOSOME 16p13.3 DELETION SYNDROME; 610667 UBIQUITIN CARBOXYL-TERMINAL HYDROLASE L5; UCHL5; 611018 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2B; PAIP2B; 611141 MINDBOMB, DROSOPHILA, HOMOLOG OF, 2; MIB2; 611703 ZINC FINGER PROTEIN 436; ZNF436

December 24, 2007
New Entries:: Clinical Synopsis for 258315 OMODYSPLASIA, GENERALIZED FORM; Clinical Synopsis for 601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; Clinical Synopsis for 605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA
Changed Entries:: 252650 MUCOLIPIDOSIS IV; 258315 OMODYSPLASIA, GENERALIZED FORM; 601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; Clinical Synopsis for 153650 EPSTEIN SYNDROME; Clinical Synopsis for 153670 BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT; Clinical Synopsis for 155100 MAY-HEGGLIN ANOMALY; MHA; Clinical Synopsis for 164745 OMODYSPLASIA; Clinical Synopsis for 180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG; Clinical Synopsis for 182250 SINGLETON-MERTEN SYNDROME; Clinical Synopsis for 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; Clinical Synopsis for 212720 MARTSOLF SYNDROME; Clinical Synopsis for 271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE; Clinical Synopsis for 314050 THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED; Clinical Synopsis for 601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,; Clinical Synopsis for 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

December 21, 2007
New Entries:: 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
Changed Entries:: 215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD; 600935 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7; 603966 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C3; AKR1C3; 604432 SPINOCEREBELLAR ATAXIA 11; SCA11; 604643 NEUROPEPTIDE FF-AMIDE PEPTIDE; NPFF; 604645 PHOSPHODIESTERASE 7B, cAMP-SPECIFIC, HIGH-AFFINITY; PDE7B; 611278 KINESIN FAMILY MEMBER 12; KIF12; 611691 SUSHI, VON WILLEBRAND FACTOR TYPE A, EGF, AND PENTRAXIN DOMAINS-CONTAINING; 611693 ADIPOCYTE-SPECIFIC ADHESION MOLECULE; 611696 SOLUTE CARRIER FAMILY 22, MEMBER 20; SLC22A20; 611697 CHROMOSOME 6 OPEN READING FRAME 85; C6ORF85; 611698 SOLUTE CARRIER FAMILY 22, MEMBER 24; Clinical Synopsis for 182125 SEPIAPTERIN REDUCTASE; SPR; Clinical Synopsis for 256000 LEIGH SYNDROME; LS; Clinical Synopsis for 600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B; Clinical Synopsis for 609625 CHROMOSOME 10q DELETION SYNDROME; Clinical Synopsis for 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; Clinical Synopsis for 609821 BLEEDING DISORDER DUE TO P2RY12 DEFECT; Clinical Synopsis for 610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS

December 20, 2007
New Entries:: 300685 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 3; PRRG3; 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
Changed Entries:: 135620 INTEGRIN, ALPHA-5; ITGA5; 135630 INTEGRIN, BETA-1; ITGB1; 138090 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD; 147640 INTERFERON, BETA-1; IFNB1; 158350 COWDEN DISEASE; CD; 161100 NAILBEDS, PIGMENTATION OF; 174763 POLYMERASE, DNA, GAMMA; POLG; 176920 PROTEUS SYNDROME; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 608632 MICRO RNA 196A1; MIRN196A1; 609582 MICRO RNA 122A; MIRN122A; 610945 MICRO RNA 296; MIRN296; 611111 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 5; DPPA5; 611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4; 611692 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 34; ZBTB34; Clinical Synopsis for 115310 PARAGANGLIOMAS 4; PGL4; Clinical Synopsis for 168000 PARAGANGLIOMAS 1; PGL1; Clinical Synopsis for 188400 DIGEORGE SYNDROME; DGS; Clinical Synopsis for 222600 DIASTROPHIC DYSPLASIA; Clinical Synopsis for 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; Clinical Synopsis for 605373 PARAGANGLIOMAS 3; PGL3; Clinical Synopsis for 607136 SPINOCEREBELLAR ATAXIA 17; SCA17; Clinical Synopsis for 608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5

December 19, 2007
New Entries:: 611684 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 3; SART3; 611685 RING FINGER PROTEIN 8; RNF8; 611686 CAS1 DOMAIN-CONTAINING PROTEIN 1; CASD1
Changed Entries:: 114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA; 114480 BREAST CANCER; 114500 COLORECTAL CANCER; CRC; 114550 HEPATOCELLULAR CARCINOMA; 133430 ESTROGEN RECEPTOR 1; ESR1; 138680 ALPHA-2-HS-GLYCOPROTEIN; AHSG; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 147892 DEIODINASE, IODOTHYRONINE, TYPE I; DIO1; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 168100 PARALYSIS AGITANS, JUVENILE, OF HUNT; 175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1; 176846 PROTEASOME SUBUNIT, ALPHA-TYPE, 4; PSMA4; 177650 EXFOLIATION SYNDROME; XFS; 180245 RETINOID X RECEPTOR, ALPHA; RXRA; 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC; 211980 LUNG CANCER; 212750 CELIAC DISEASE; CD; 243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA; 259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300043 MOVED TO 611663; 300465 MOVED TO 301040; 300684 X KELL BLOOD GROUP PRECURSOR-RELATED, X-LINKED; XKRX; 309490 MOVED TO 309580; 309590 MOVED TO 309580; 311241 MOVED TO 258870; 600339 HEPATOMA-DERIVED GROWTH FACTOR; HDGF; 600791 ENLARGED VESTIBULAR AQUEDUCT; EVA; 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8; 602358 HYPOCRETIN; HCRT; 602392 HYPOCRETIN RECEPTOR 1; HCRTR1; 602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR; 602961 UBIQUITIN-CONJUGATING ENZYME E2D 1; UBE2D1; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR; 603684 LIPASE, ENDOTHELIAL; LIPG; 603850 DYNAMIN 1-LIKE; DNM1L; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604370 OVARIAN CANCER, EPITHELIAL; 604425 LIM HOMEOBOX GENE 8; 604942 SYNTAPHILIN; SNPH; 605686 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4; IGSF4; 606515 RNA, 7SK SMALL NUCLEAR; RN7SK; 607043 TRAF3-INTERACTING PROTEIN 2; TRAF3IP2; 607224 ORAL CANCER OVEREXPRESSED GENE 1; ORAOV1; 607271 CASPASE 8 DEFICIENCY; 607692 MOVED TO 248800 AND 246700; 610239 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 610814 MOVED TO 601186; 611162 MALARIA, SUSCEPTIBILITY TO; 611478 METHYLPHOSPHATE CAPPING ENZYME; MEPCE; 611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12; 611539 FORKHEAD BOX D3; FOXD3; 611565 KIAA1109 GENE; KIAA1109; 611568 GOLGI-LOCALIZED SYNTAPHILIN-RELATED PROTEIN; 611569 CYTOSKELETON-ASSOCIATED PROTEIN 2; CKAP2; 611571 OTOSCLEROSIS 4; OTSC4; 611572 OTOSCLEROSIS 7; OTSC7; 611573 SPHINGOMYELIN SYNTHASE 1; SGMS1; 611574 SPHINGOMYELIN SYNTHASE 2; SGMS2; 611575 STERILE ALPHA MOTIF DOMAIN-CONTAINING 8; SAMD8; 611576 MICRO RNA 10B; MIRN10B; 611577 JUMONJI DOMAIN-CONTAINING PROTEIN 3; JMJD3; 611578 FERRIC CHELATE REDUCTASE 1; FRRS1; 611579 TRANSMEMBRANE PROTEIN 114; TMEM114; 611580 FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER A; FAM12A; 611582 FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B; 611583 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 5A; ARID5A; 611584 WAARDENBURG SYNDROME, TYPE IIE; WS2E; 611585 TESCALCIN, MOUSE, HOMOLOG OF; TESC; 611586 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 1; C1QL1; 611587 RHO GTPase-ACTIVATING PROTEIN 19; ARHGAP19; 611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA; 611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6; 611603 LISSENCEPHALY 3; LIS3; 611639 GATA-LIKE PROTEIN 1; 611640 FIBRONECTIN TYPE III AND ANKYRIN REPEAT DOMAINS 1; FANK1; 611641 CANCER SUSCEPTIBILITY GENE HEPN1; 611642 HEPATOCYTE CELL ADHESION MOLECULE; HEPACAM; 611643 ZINC FINGER WITH KRAB AND SCAN DOMAINS 4; ZKSCAN4; 611644 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9; 611645 CXXC FINGER PROTEIN 4; CXXC4; 611646 SPHK1-INTERACTING PROTEIN; SPHKAP; 611647 ARV1, S. CEREVISIAE, HOMOLOG OF; ARV1; 611648 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 1; HISPPD1; 611649 CHROMOSOME 10 OPEN READING FRAME 97; C10ORF97; 611651 PHOSPHOLIPASE A2, GROUP III; PLA2G3; 611652 PHOSPHOLIPASE A2, GROUP XIIA; PLA2G12A; 611653 PHOSPHOLIPASE A2, GROUP XIIB; PLA2G12B; 611654 CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1; 611655 GPI DEACYLASE; 611656 SUPPRESSOR OF IKK-EPSILON; 611657 SPRY DOMAIN- AND SOCS BOX-CONTAINING 1; SPSB1; 611658 SPRY DOMAIN- AND SOCS BOX-CONTAINING 2; SPSB2; 611659 SPRY DOMAIN- AND SOCS BOX-CONTAINING 3; SPSB3; 611660 SPRY DOMAIN- AND SOCS BOX-CONTAINING 4; SPSB4; 611661 DBF4, S. CEREVISIAE, HOMOLOG OF, B; DBF4B; 611662 EOSINOPHIL GRANULE ONTOGENY; 611663 TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20; 611664 SKIN PIGMENTATION, VARIATION IN; 611665 DEAD/H BOX 54; DDX54; 611666 PPAP2 DOMAIN-CONTAINING PROTEIN 2; PPAPDC2; 611667 SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2; SPATS2; 611669 tRNA METHYLTRANSFERASE 1, S. CEREVISIAE, HOMOLOG OF; TRMT1; 611670 MYOINOSITOL 1-PHOSPHATE SYNTHASE A1; 611671 PHOSPHATIDYLINOSITOL GLYCAN, CLASS Z; PIGZ; 611672 SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1; 611673 CHROMOSOME 1 OPEN READING FRAME 25; C1ORF25; 611674 X KELL BLOOD GROUP PRECURSOR-RELATED FAMILY, MEMBER 3; XKR3; 611675 KIAA0513 GENE; KIAA0513; 611676 PHOSDUCIN-LIKE 2; PDCL2; 611677 OLFACTORY RECEPTOR, FAMILY 13, SUBFAMILY G, MEMBER 1; OR13G1; 611678 PHOSDUCIN-LIKE 3; PDCL3; 611679 F-BOX AND WD40 DOMAIN PROTEIN 10; FBXW10; 611680 SPECIFICALLY ANDROGEN-REGULATED GENE; 611682 LIPOPROTEIN(a)-LIKE 2; LPAL2; 611683 FRUCTOSAMINE 3-KINASE-RELATED PROTEIN

December 18, 2007
New Entries:: 611681 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
Changed Entries:: 121015 GAP JUNCTION PROTEIN, ALPHA-3; GJA3; 601885 CATARACT, ZONULAR PULVERULENT 3; CZP3; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 605421 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 611565 KIAA1109 GENE; KIAA1109; 611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6

December 17, 2007
New Entries:: 611683 FRUCTOSAMINE 3-KINASE-RELATED PROTEIN
Changed Entries:: 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 113705 BREAST CANCER 1 GENE; BRCA1; 114835 CARBOXYLESTERASE 1; CES1; 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; 134790 FERRITIN LIGHT CHAIN; FTL; 142250 HEMOGLOBIN, GAMMA G; HBG2; 146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 164160 LEPTIN; LEP; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 182230 SEPTOOPTIC DYSPLASIA; 191845 UROMODULIN; UMOD; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 201810 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 232200 GLYCOGEN STORAGE DISEASE I; 240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1; 266500 REFSUM DISEASE; 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 300247 BONE MORPHOGENETIC PROTEIN 15; BMP15; 300474 GLYCEROL KINASE; GK; 300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS; 300644 GALACTOSIDASE, ALPHA; GLA; 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1; 590005 TRANSFER RNA, MITOCHONDRIAL, ARGININE; MTTR; 600781 PEPTIDE YY; PYY; 600811 DNA DAMAGE-BINDING PROTEIN 2; DDB2; 600895 PROLACTIN-RELEASING HORMONE RECEPTOR; PRLHR; 600946 GROWTH HORMONE RECEPTOR; GHR; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601802 HOMEOBOX GENE EXPRESSED IN ES CELLS; HESX1; 602077 MOVED TO 604292; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 604277 SPG4 GENE; SPG4; 606796 SUPPRESSION OF TUMORIGENICITY 13; ST13; 607358 AUTOIMMUNE REGULATOR; AIRE; 607854 BESTROPHIN 1; BEST1; 608425 FRUCTOSAMINE 3-KINASE; 609505 TRIPARTITE MOTIF-CONTAINING PROTEIN 16; TRIM16; 609708 LIPOPROTEIN LIPASE; LPL; Clinical Synopsis for 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

December 14, 2007
New Entries:: 611603 LISSENCEPHALY 3; LIS3; 611676 PHOSDUCIN-LIKE 2; PDCL2; 611677 OLFACTORY RECEPTOR, FAMILY 13, SUBFAMILY G, MEMBER 1; OR13G1; 611678 PHOSDUCIN-LIKE 3; PDCL3; 611679 F-BOX AND WD40 DOMAIN PROTEIN 10; FBXW10; 611680 SPECIFICALLY ANDROGEN-REGULATED GENE; 611682 LIPOPROTEIN(a)-LIKE 2; LPAL2
Changed Entries:: 131290 ENGRAILED 1; EN1; 131310 ENGRAILED 2; EN2; 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 165020 V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1; ROS1; 203800 ALSTROM SYNDROME; ALMS; 277900 WILSON DISEASE; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,; 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;; 602104 SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2; 602529 TUBULIN, ALPHA-1A; TUBA1A; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2; 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX; 606844 ALMS1 GENE; ALMS1; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607108 PAIRED BOX GENE 6; PAX6; 607432 LISSENCEPHALY 1; LIS1; 608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD; 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY; 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; 609627 TASTE RECEPTOR, TYPE 2, MEMBER 50; TAS2R50; 611565 KIAA1109 GENE; KIAA1109; 611668 CORONIN 7; CORO7

December 13, 2007
New Entries:: 300684 X KELL BLOOD GROUP PRECURSOR-RELATED, X-LINKED; XKRX; 611667 SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2; SPATS2; 611668 CORONIN 7; CORO7; 611669 tRNA METHYLTRANSFERASE 1, S. CEREVISIAE, HOMOLOG OF; TRMT1; 611670 MYOINOSITOL 1-PHOSPHATE SYNTHASE A1; 611671 PHOSPHATIDYLINOSITOL GLYCAN, CLASS Z; PIGZ; 611672 SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1; 611673 CHROMOSOME 1 OPEN READING FRAME 25; C1ORF25; 611674 X KELL BLOOD GROUP PRECURSOR-RELATED FAMILY, MEMBER 3; XKR3; 611675 KIAA0513 GENE; KIAA0513
Changed Entries:: 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 131240 ENDOTHELIN 1; EDN1; 172425 PHOSPHOLIPID TRANSFER PROTEIN; PLTP; 176846 PROTEASOME SUBUNIT, ALPHA-TYPE, 4; PSMA4; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 603570 VANIN 1; VNN1; 608956 SOLUTE CARRIER FAMILY 46, MEMBER 2; SLC46A2; 609708 LIPOPROTEIN LIPASE; LPL; 611385 MOVED TO 176846; 611663 TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20; 611669 tRNA METHYLTRANSFERASE 1, S. CEREVISIAE, HOMOLOG OF; TRMT1; 611670 MYOINOSITOL 1-PHOSPHATE SYNTHASE A1; 611673 CHROMOSOME 1 OPEN READING FRAME 25; C1ORF25

December 12, 2007
New Entries:: 611664 SKIN PIGMENTATION, VARIATION IN; 611665 DEAD/H BOX 54; DDX54; 611666 PPAP2 DOMAIN-CONTAINING PROTEIN 2; PPAPDC2
Changed Entries:: 160700 MYOPIA 2; MYP2; 179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1; 180200 RETINOBLASTOMA; RB1; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC; 300137 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 1; IGSF1; 600085 PROTEIN-TYROSINE KINASE SYK; SYK; 600339 HEPATOMA-DERIVED GROWTH FACTOR; HDGF; 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1; 604281 DBF4, S. CEREVISIAE, HOMOLOG OF; DBF4; 604824 KLOTHO; KL; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 606230 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3; 606933 TYROSINASE; TYR; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 611661 DBF4, S. CEREVISIAE, HOMOLOG OF, B; DBF4B; 611662 EOSINOPHIL GRANULE ONTOGENY; 611663 TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20; 611664 SKIN PIGMENTATION, VARIATION IN

December 11, 2007
New Entries:: 611657 SPRY DOMAIN- AND SOCS BOX-CONTAINING 1; SPSB1; 611658 SPRY DOMAIN- AND SOCS BOX-CONTAINING 2; SPSB2; 611659 SPRY DOMAIN- AND SOCS BOX-CONTAINING 3; SPSB3; 611660 SPRY DOMAIN- AND SOCS BOX-CONTAINING 4; SPSB4; 611661 DBF4, S. CEREVISIAE, HOMOLOG OF, B; DBF4B; 611662 EOSINOPHIL GRANULE ONTOGENY; 611663 HEPATOMA-DERIVED GROWTH FACTOR; HDGF
Changed Entries:: 113970 BURKITT LYMPHOMA; BL; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A; 147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 161560 INTERLEUKIN 12A; IL12A; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA; 232050 PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB; 253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B; 254130 MIYOSHI MYOPATHY; MM; 271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; 300043 MOVED TO 611663; 600132 RETINITIS PIGMENTOSA 14; RP14; 600274 FRONTOTEMPORAL DEMENTIA; FTD; 600387 BONE MARROW STROMAL CELL ANTIGEN 1; BST1; 601652 MYOCILIN; MYOC; 602229 SRY-BOX 10; SOX10; 602280 TUBBY-LIKE PROTEIN 1; TULP1; 603009 DYSFERLIN; DYSF; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 605816 EPSTEIN-BARR VIRUS-INDUCED GENE 3; EBI3; 609058 METHYLMALONYL-CoA MUTASE; MUT; 609207 MELANOREGULIN; MREG; 611584 WAARDENBURG SYNDROME, TYPE IIE; WS2E; 611654 CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1; 611655 GPI DEACYLASE; 611656 SUPPRESSOR OF IKK-EPSILON; 611662 EOSINOPHIL GRANULE ONTOGENY; 611663 HEPATOMA-DERIVED GROWTH FACTOR; HDGF

December 10, 2007
New Entries:: 611584 WAARDENBURG SYNDROME, TYPE IIE; WS2E; 611654 CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1; 611655 GPI DEACYLASE; 611656 SUPPRESSOR OF IKK-EPSILON
Changed Entries:: 103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS; 164160 LEPTIN; LEP; 193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A; 203450 ALEXANDER DISEASE; 300600 ALAND ISLAND EYE DISEASE; AIED; 602229 SRY-BOX 10; SOX10

December 7, 2007
New Entries:: 611650 PERIPAPILLARY ATROPHY, BETA TYPE; PPAB; 611651 PHOSPHOLIPASE A2, GROUP III; PLA2G3; 611652 PHOSPHOLIPASE A2, GROUP XIIA; PLA2G12A; 611653 PHOSPHOLIPASE A2, GROUP XIIB; PLA2G12B; Clinical Synopsis for 611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5
Changed Entries:: 113705 BREAST CANCER 1 GENE; BRCA1; 114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA; 114480 BREAST CANCER; 114500 COLORECTAL CANCER; CRC; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 126451 DOPAMINE RECEPTOR D3; DRD3; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 164950 FIBROBLAST GROWTH FACTOR 3; FGF3; 166710 OSTEOPOROSIS, INVOLUTIONAL; 167400 PAROXYSMAL EXTREME PAIN DISORDER; 186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES; 190990 TROPOMYOSIN 2; TPM2; 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY; 308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1; 311240 TBC1 DOMAIN FAMILY, MEMBER 25; TBC1D25; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 535000 LEBER OPTIC ATROPHY; 600185 BRCA2 GENE; BRCA2; 600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2; 600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2; 600936 HYALURONAN-MEDIATED MOTILITY RECEPTOR; HMMR; 600997 EPHRIN RECEPTOR EphB2; EPHB2; 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 601712 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2; BIRC2; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 604167 CCCTC-BINDING FACTOR; CTCF; 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2; 606510 Fc RECEPTOR-LIKE PROTEIN 3; FCRL3; 607136 SPINOCEREBELLAR ATAXIA 17; SCA17; 607224 ORAL CANCER OVEREXPRESSED GENE 1; ORAOV1; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 609838 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5; 611647 ARV1, S. CEREVISIAE, HOMOLOG OF; ARV1; 611650 PERIPAPILLARY ATROPHY, BETA TYPE; PPAB; 611651 PHOSPHOLIPASE A2, GROUP III; PLA2G3

December 6, 2007
New Entries:: 611647 ARV1, S. CEREVISIAE, HOMOLOG OF; ARV1; 611648 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 1; HISPPD1; 611649 CHROMOSOME 10 OPEN READING FRAME 97; C10ORF97
Changed Entries:: 106150 ANGIOTENSIN I; AGT; 131242 ENDOTHELIN 3; EDN3; 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 147796 JANUS KINASE 2; JAK2; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 190195 TRANSGLUTAMINASE 1; TGM1; 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR; 242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1; 248200 STARGARDT DISEASE 1; STGD1; 600155 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 602783 PARAPLEGIN; SPG7; 605704 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAPB; 607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7; 610979 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 2A; HISPPD2A; Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE; Clinical Synopsis for 243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA

December 5, 2007
New Entries:: 611644 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9; 611645 CXXC FINGER PROTEIN 4; CXXC4; 611646 SPHK1-INTERACTING PROTEIN
Changed Entries:: 106150 ANGIOTENSIN I; AGT; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 131242 ENDOTHELIN 3; EDN3; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 138945 GRANULIN; GRN; 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1; 147796 JANUS KINASE 2; JAK2; 190195 TRANSGLUTAMINASE 1; TGM1; 242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1; 242300 ICHTHYOSIS, LAMELLAR, 1; LI1; 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY; 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A; 300257 DANON DISEASE; 311240 TBC1 DOMAIN FAMILY, MEMBER 25; TBC1D25; 311241 MOVED TO 258870; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600155 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2; 600156 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5; 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF; 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1; 601740 MEIS1, MOUSE, HOMOLOG OF, 2; MEIS2; 602018 NEURTURIN; NRTN; 602606 COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT; 602961 UBIQUITIN-CONJUGATING ENZYME E2D 1; UBE2D1; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603274 MOVED TO 602961; 604780 ABHYDROLASE DOMAIN-CONTAINING 5; ABHD5; 604863 LECITHIN RETINOL ACYLTRANSFERASE; LRAT; 606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1; 606874 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6; 606875 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7; HSCR7; 607108 PAIRED BOX GENE 6; PAX6; 607206 ARACHIDONATE LIPOXYGENASE 3; ALOXE3; 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;; 608462 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8; HSCR8

December 4, 2007
New Entries:: 611643 ZINC FINGER WITH KRAB AND SCAN DOMAINS 4; ZKSCAN4
Changed Entries:: 107271 CD59 ANTIGEN; CD59; 129010 EARLY GROWTH RESPONSE 2; EGR2; 138570 GLYCOGEN SYNTHASE 1; GYS1; 142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15; 300677 CHROMOSOME X OPEN READING FRAME 15; CXORF15; 604277 SPG4 GENE; SPG4; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 606439 SPG3A GENE; SPG3A; 606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1; 606619 GLUCOSIDASE, BETA, ACID 3; GBA3; 606829 FRATAXIN; FXN; 609383 ICHTHYIN; 610844 SPG11 GENE; SPG11; 611290 NONHOMOLOGOUS END-JOINING FACTOR 1; NHEJ1; 611438 TAXILIN, BETA; TXLNB; 611463 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 2; SAT2; 611641 CANCER SUSCEPTIBILITY GENE HEPN1; 611642 HEPATOCYTE CELL ADHESION MOLECULE; HEPACAM; 611643 ZINC FINGER WITH KRAB AND SCAN DOMAINS 4; ZKSCAN4; Clinical Synopsis for 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

December 3, 2007
New Entries:: 611641 CANCER SUSCEPTIBILITY GENE HEPN1; 611642 HEPATOCYTE CELL ADHESION MOLECULE; HEPACAM
Changed Entries:: 135940 FILAGGRIN; FLG; 146750 ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 256500 NETHERTON SYNDROME; NETH; 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604219 CATARACT, AUTOSOMAL DOMINANT; 604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD; 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 607929 CCM2 GENE; CCM2; 609118 PROGRAMMED CELL DEATH 10; PDCD10; 609383 ICHTHYIN; 611641 CANCER SUSCEPTIBILITY GENE HEPN1

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OMIM Update List for December, 2007

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