OMIM Update List for April, 2007

PubMed

Nucleotide

Protein

Genome

OMIM Update List for April, 2007

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April 30, 2007
New Entries:: 300647 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B; 610991 OBSCURIN-LIKE 1; OBSL1
Changed Entries:: 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 147950 KALLMANN SYNDROME 2; KAL2; 151530 ALANYL AMINOPEPTIDASE; ANPEP; 162095 PLEIOTROPHIN; PTN; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 193400 VON WILLEBRAND DISEASE; 194070 WILMS TUMOR 1; WT1; 246300 LEPROSY, SUSCEPTIBILITY TO; 300647 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B; 305371 GATA-BINDING PROTEIN 1; GATA1; 600453 TRIPARTITE MOTIF-CONTAINING PROTEIN 25; TRIM25; 600483 FIBROBLAST GROWTH FACTOR 8; FGF8; 601254 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 6; MAP2K6; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 604311 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP; 604557 ZINC FINGER PROTEIN 423; ZNF423; 604615 EOMESODERMIN, XENOPUS, HOMOLOG OF; EOMES; 604862 CD207 ANTIGEN; CD207; 605442 WILMS TUMOR 1-ASSOCIATING PROTEIN; WTAP; 607444 SBDS GENE; SBDS; 607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; PARL; 607939 SULFATASE-MODIFYING FACTOR 1; SUMF1; 608400 USH2A GENE; USH2A; 608639 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 8;; 608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX; 610991 OBSCURIN-LIKE 1; OBSL1

April 27, 2007
New Entries:: 610983 MICRO RNA 368; MIRN368; 610985 UBIQUITIN E2 VARIANT AND LACTATE/MALATE DEHYDROGENASE DOMAINS-CONTAINING; 610986 LEUCINE-RICH REPEAT KINASE 1; LRRK1; 610987 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2B; ASAH2B; 610988 LEPROSY, SUSCEPTIBILITY TO, 4; 610989 LEMUR TYROSINE KINASE 2; LMTK2; 610990 KIAA1949 GENE; KIAA1949
Changed Entries:: 109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 153440 LYMPHOTOXIN-ALPHA; LTA; 246300 LEPROSY, SUSCEPTIBILITY TO; 300188 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE,; 300321 FG SYNDROME 2; FGS2; 300406 FG SYNDROME 3; FGS3; 300422 FG SYNDROME 4; FGS4; 300581 FG SYNDROME 5; FGS5; 305450 OPITZ-KAVEGGIA SYNDROME; OKS; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 601663 ESTROGEN RECEPTOR 2; ESR2; 602769 DNA METHYLTRANSFERASE 3A; DNMT3A; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 604297 SYNAPTOJANIN 1; SYNJ1; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605164 HISTONE DEACETYLASE 2; HDAC2; 605565 RESISTIN; RETN; 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4; 607945 ADIPONECTIN RECEPTOR 1; ADIPOR1; 607946 ADIPONECTIN RECEPTOR 2; ADIPOR2; 608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1; 610959 MICRO RNA 376A-1; MIRN376A-1; 610960 MICRO RNA 376A-2; MIRN376A-2; 610969 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 1; TRAPPC1; Clinical Synopsis for 305450 OPITZ-KAVEGGIA SYNDROME; OKS; Clinical Synopsis for 600224 SPINOCEREBELLAR ATAXIA 5; SCA5

April 26, 2007
New Entries:: 610982 CHROMOSOME 14 OPEN READING FRAME 173; C14ORF173
Changed Entries:: 153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1; 180200 RETINOBLASTOMA; RB1; 193400 VON WILLEBRAND DISEASE; 601378 CRISPONI SYNDROME; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1; 604966 PROTOCADHERIN-ALPHA GENE CLUSTER; 610976 APOLIPOPROTEIN B mRNA EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3H;; Clinical Synopsis for 278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

April 25, 2007
New Entries:: 610974 ZINC FINGER PROTEIN 521; ZNF521; 610975 SKIN-, EMBRYO-, BRAIN-, AND OOCYTE-SPECIFIC HOMEOBOX; 610976 APOLIPOPROTEIN B mRNA EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3H;; 610977 TETRACYCLINE TRANSPORTER-LIKE PROTEIN; 610979 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 2A; HISPPD2A; 610980 KCNQ1 DOWNSTREAM NEIGHBOR; KCNQ1DN; 610981 WWBP2 N-TERMINAL-LIKE PROTEIN; WBP2NL
Changed Entries:: 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD; 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM; 130080 EHLERS-DANLOS SYNDROME, TYPE VIII; 133430 ESTROGEN RECEPTOR 1; ESR1; 160776 MYOSIN, HEAVY CHAIN 10, NONMUSCLE; MYH10; 170650 PERIODONTITIS, AGGRESSIVE, 1; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 225400 EHLERS-DANLOS SYNDROME, TYPE VI; 245010 HAIM-MUNK SYNDROME; HMS; 260950 PERIODONTITIS, CHRONIC; 311750 PERIODONTITIS; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600970 MYOSIN VI; MYO6; 601014 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 1; DLG1; 601304 NON-HISTONE CHROMOSOME PROTEIN 2, S. CEREVISIAE, HOMOLOG-LIKE 1; NHP2L1; 601381 EPHRIN A3; EFNA3; 601535 EPHRIN A5; EFNA5; 601665 OBESITY; 602756 EPHRIN A2; EFNA2; 603023 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1; 603380 LIN7, C. ELEGANS, HOMOLOG A; LIN7A; 605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4; 606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31; 606708 SPLIT-HAND/FOOT MALFORMATION 5; 609280 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 4; EIF2AK4; 610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; 610969 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 1; TRAPPC1; 610971 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 4; TRAPPC4; Clinical Synopsis for 604841 STICKLER SYNDROME, TYPE II; STL2

April 24, 2007
New Entries:: 610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED; 610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2; 610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3; 610965 XFE PROGEROID SYNDROME; 610966 FATSO, MOUSE, HOMOLOG OF; FTO; 610967 OSTEOGENESIS IMPERFECTA, TYPE V; 610968 OSTEOGENESIS IMPERFECTA, TYPE VI; 610969 TRAFFICKING PROTEIN PARTICLE COMPLEX 1; TRAPPC1; 610970 TRAFFICKING PROTEIN PARTICLE COMPLEX 2-LIKE; TRAPPC2L; 610971 TRAFFICKING PROTEIN PARTICLE COMPLEX 4; TRAPPC4; 610972 ADHERENS JUNCTION-ASSOCIATED PROTEIN 1; AJAP1; 610973 MEMBRANE PROTEIN, PALMITOYLATED 7; MPP7
Changed Entries:: 109480 BASIGIN; BSG; 126380 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1; 133520 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4; 138960 COLONY-STIMULATING FACTOR 2; CSF2; 138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB; 142460 SYNDECAN 2; SDC2; 173393 PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC; 178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB; 181000 SARCOIDOSIS; 182257 PROTEINASE INHIBITOR 3; PI3; 185605 SYNAPTOTAGMIN 1; SYT1; 191092 TSC2 GENE; TSC2; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP; 265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1; 300292 FORKHEAD BOX P3; FOXP3; 300631 TRANSMEMBRANE PROTEIN 27; TMEM27; 600104 SYNAPTOTAGMIN 2; SYT2; 600970 MYOSIN VI; MYO6; 601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4; 602972 PHOSPHODIESTERASE 8A; PDE8A; 605185 DELTA-LIKE 4; DLL4; 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY; 608483 AKT-INTERACTING PROTEIN; AKTIP; 608584 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2; 609677 AMPLIFIED IN OSTEOSARCOMA 9; 610385 LR8 PROTEIN; LR8; 610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED; 610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2; 610958 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE 3; 610959 MICRO RNA 376A-1; MIRN376A-1; 610965 XFE PROGEROID SYNDROME; Clinical Synopsis for 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

April 23, 2007
New Entries:: 610954 PITT-HOPKINS SYNDROME; PTHS; 610956 ASPARTYL-tRNA SYNTHETASE 2; DARS2; 610957 TYROSYL-tRNA SYNTHETASE 2; YARS2; 610958 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE 3; 610959 MICRO RNA 376A-1; MIRN376A-1; 610960 MICRO RNA 376A-2; MIRN376A-2; 610961 MICRO RNA 376-B; 610962 SMG5, C. ELEGANS, HOMOLOG OF; SMG5; 610963 SMG6, C. ELEGANS, HOMOLOG OF; SMG6; 610964 SMG7, C. ELEGANS, HOMOLOG OF; SMG7
Changed Entries:: 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 164009 NUCLEAR MITOTIC APPARATUS PROTEIN 1; NUMA1; 165196 OPIOID RECEPTOR, KAPPA-1; OPRK1; 300017 FILAMIN A; FLNA; 305400 FACIOGENITAL DYSPLASIA; 601014 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 1; DLG1; 601118 CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG; 601430 REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1; 602272 TRANSCRIPTION FACTOR 4; TCF4; 602395 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE, MITOCHONDRIAL; GPAM; 603343 RNA EXPORT 1, S. POMBE, HOMOLOG OF; RAE1; 604031 STEAROYL-CoA DESATURASE; SCD; 608701 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 2; NMNAT2; 610224 SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN; 610436 ROTATIN; RTTN; 610473 LYSOPHOSPHATIDYLGLYCEROL ACYLTRANSFERASE 1; LPGAT1; 610669 TNFAIP3-INTERACTING PROTEIN 2; TNIP2; 610841 STROMAL INTERACTION MOLECULE 2; STIM2; 610872 IBR DOMAIN-CONTAINING PROTEIN 3; IBRDC3; 610954 PITT-HOPKINS SYNDROME; PTHS; 610962 SMG5, C. ELEGANS, HOMOLOG OF; SMG5

April 20, 2007
New Entries:: 610948 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7; 610949 SYNAPTOTAGMIN 14; SYT14; 610950 SYNAPTOTAGMIN 16; SYT16; 610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7; 610952 CROOKED NECK PRE-mRNA SPLICING FACTOR-LIKE 1; CRNKL1; 610953 PIF1, S. CEREVISIAE, HOMOLOG OF; PIF1; 610955 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 3; TRAPPC3
Changed Entries:: 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1; 123970 CYTOCHROME C, SOMATIC; CYCS; 134371 COMPLEMENT FACTOR H-RELATED 1; CFHR1; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 135500 ZIMMERMANN-LABAND SYNDROME; ZLS; 145500 HYPERTENSION, ESSENTIAL; 147750 IVIC SYNDROME; 147796 JANUS KINASE 2; JAK2; 151290 BETA-1,3-GLUCURONYLTRANSFERASE 1; B3GAT1; 153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS; 187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2; 245150 KEUTEL SYNDROME; 265120 PULMONARY ALVEOLAR PROTEINOSIS; 265450 PULMONARY VENOOCCLUSIVE DISEASE; PVOD; 300202 TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2; 300282 ECTO-NOX DISULFIDE-THIOL EXCHANGER 2; ENOX2; 300309 UBIQUITIN-SPECIFIC PROTEASE 26; USP26; 300646 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 9; ZDHHC9; 305700 SERTOLI CELL-ONLY SYNDROME; 600029 DISTAL-LESS HOMEOBOX 1; DLX1; 600030 DISTAL-LESS HOMEOBOX 6; DLX6; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8; 600507 ADP-RIBOSYLATION FACTOR 2; ARF2; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601909 G PROTEIN-COUPLED RECEPTOR 21; GPR21; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC; 604137 MOVED TO 192150; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 604378 BECLIN 1; BECN1; 604570 SHROOM FAMILY MEMBER 3; SHROOM3; 605336 COMPLEMENT FACTOR H-RELATED 3; CFHR3; 606366 RAS HOMOLOG GENE FAMILY, MEMBER U; RHOU; 607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU; 608021 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING; 608071 F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4; 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3; 609222 CEPHALOCELE, ATRETIC; 610339 LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1; LEPRE1; 610397 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6B; TRAPPC6B; 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4; 610844 SPG11 GENE; SPG11; 610852 CILIARY DYSKINESIA, PRIMARY, 6; 610855 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 26; ANKRD26; 610875 SAPS DOMAIN FAMILY, MEMBER 1; SAPS1; 610876 HECT DOMAIN- AND ANKYRIN REPEAT-CONTAINING E3 UBIQUITIN PROTEIN LIGASE; 610877 SAPS DOMAIN FAMILY, MEMBER 2; SAPS2; 610878 VESICOURETERAL REFLUX 2; VUR2; 610879 SAPS DOMAIN FAMILY, MEMBER 3; SAPS3; 610880 CHROMOSOME 11 OPEN READING FRAME 24; C11ORF24; 610881 SUPPRESSOR OF VARIEGATION 4-20, DROSOPHILA, HOMOLOG OF, 1; SUV420H1; 610882 SJOGREN SYNDROME NUCLEAR AUTOANTIGEN 1; SSNA1; 610883 POTOCKI-LUPSKI SYNDROME; PTLS; 610884 FANCONI ANEMIA-ASSOCIATED PROTEIN, 24-KD; 610885 ESSENTIAL MEIOTIC ENDONUCLEASE 1, S. POMBE, HOMOLOG OF, 1; EME1; 610886 ESSENTIAL MEIOTIC ENDONUCLEASE 1, S. POMBE, HOMOLOG OF, 2; EME2; 610887 POLYMERASE, DNA, NU; POLN; 610888 GASTRIC CANCER-RELATED GENE 224; 610889 IMPORTIN 11; IPO11; 610890 REGULATOR OF G PROTEIN SIGNALING 7-BINDING PROTEIN; RGS7BP; 610891 FAMILY WITH SEQUENCE SIMILARITY 102, MEMBER A; FAM102A; 610892 SYNAPTOTAGAMIN 14-LIKE PROTEIN; SYT14L; 610893 CHMP FAMILY, MEMBER 2A; CHMP2A; 610894 NEUREGULIN 4; NRG4; 610895 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING; 610896 BRANCHIOOTORENAL SYNDROME 2; BOR2; 610897 CHMP FAMILY, MEMBER 4B; CHMP4B; 610898 SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3; 610900 CHMP FAMILY, MEMBER 5; CHMP5; 610901 CHMP FAMILY, MEMBER 6; CHMP6; 610902 CHROMOSOME 6 OPEN READING FRAME 55; C6ORF55; 610903 VACUOLAR PROTEIN SORTING 36, S. CEREVISIAE, HOMOLOG OF; VPS36; 610904 SNF8, S. CEREVISIAE, HOMOLOG OF; SNF8; 610905 AICARDI-GOUTIERES SYNDROME 5; AGS5; 610906 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4; 610907 VACUOLAR PROTEIN SORTING 25, S. CEREVISIAE, HOMOLOG OF; VPS25; 610911 CDC42 GTPase-ACTIVATING PROTEIN; 610912 AMELOTIN; AMTN; 610914 ECTO-NOX DISULFIDE-THIOL EXCHANGER 1; ENOX1; 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; 610916 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 2; NSUN2; 610917 RAS-ASSOCIATED PROTEIN 34; RAB34; 610918 SELENOPROTEIN M; 610919 GTP-BINDING PROTEIN 5; GTPBP5; 610920 GTP-BINDING PROTEIN 10; GTPBP10; 610922 CHROMOSOME 15 OPEN READING FRAME 2; C15ORF2; 610923 SOLUTE CARRIER FAMILY 35 (UDP-XYLOSE/UDP-N-ACETYLGLUCOSAMINE TRANSPORTER),; 610924 RANBP-TYPE AND C3HC4-TYPE ZINC FINGER-CONTAINING 1; RBCK1; 610925 INTERLEUKIN 17 RECEPTOR C; IL17RC; 610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; 610928 SRY-BOX 17; SOX17; 610929 TRANSMEMBRANE PROTEIN 142B; TMEM142B; 610930 TRANSMEMBRANE PROTEIN 142C; TMEM142C; 610931 ZINC FINGER GENE IN AUTOIMMUNE THYROID DISEASE 1; ZFAT1; 610932 TWINFILIN, DROSOPHILA, HOMOLOG OF, 1; TWF1; 610933 LEUCINE-RICH REPEAT- AND STERILE ALPHA MOTIF-CONTAINING 1; LRSAM1; 610934 NEWBORN OVARY HOMEOBOX, MOUSE, HOMOLOG OF; NOBOX; 610935 LIGAND-GATED ION CHANNEL, ZINC-ACTIVATED, 1; LGICZ1; 610936 PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1; 610937 KIAA1005 GENE; 610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; 610939 MICRO RNA 192; MIRN192; 610940 MICRO RNA 194-1; MIRN194-1; 610941 MICRO RNA 194-2; MIRN194-2; 610942 MICRO RNA 204; MIRN204; 610943 MICRO RNA 215; MIRN215; 610944 MICRO RNA 216; MIRN216; 610945 MICRO RNA 296; MIRN296; 610946 MICRO RNA 133B; MIRN133B; 610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2; 610948 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7; 610949 SYNAPTOTAGMIN 14; SYT14

April 19, 2007
New Entries:: 610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2
Changed Entries:: 102490 MOVED TO 607323; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2; 126255 DISTAL-LESS HOMEOBOX 2; DLX2; 133430 ESTROGEN RECEPTOR 1; ESR1; 151100 LEOPARD SYNDROME; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 163950 NOONAN SYNDROME 1; NS1; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 191170 TUMOR PROTEIN p53; TP53; 238500 MOVED TO 144650; 251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK; 600028 DISTAL-LESS HOMEOBOX 5; DLX5; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600516 BCL2 ANTAGONIST KILLER 1; BAK1; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3; 601997 BH3-INTERACTING DOMAIN DEATH AGONIST; BID; 602365 CATHEPSIN C; CTSC; 603496 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 2; DYRK2; 603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6; 603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N; 603827 BCL2-LIKE 11; BCL2L11; 604824 KLOTHO; KL; 605854 BCL2-BINDING COMPONENT 3; BBC3; 606636 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 1;; 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2; 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1; 610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; 610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2; Clinical Synopsis for 102490 MOVED TO 607323; Clinical Synopsis for 238500 MOVED TO 144650

April 18, 2007
New Entries:: 610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; 610939 MICRO RNA 192; MIRN192; 610940 MICRO RNA 194-1; MIRN194-1; 610941 MICRO RNA 194-2; MIRN194-2; 610942 MICRO RNA 204; MIRN204; 610943 MICRO RNA 215; MIRN215; 610944 MICRO RNA 216; MIRN216; 610945 MICRO RNA 296; MIRN296; 610946 MICRO RNA 133B; MIRN133B
Changed Entries:: 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY; 106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES; 108961 NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B; NPR2; 114800 CARBONIC ANHYDRASE I; CA1; 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1; 126450 DOPAMINE RECEPTOR D2; DRD2; 126451 DOPAMINE RECEPTOR D3; DRD3; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 135500 ZIMMERMANN-LABAND SYNDROME; ZLS; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 147670 INSULIN RECEPTOR; INSR; 154700 MARFAN SYNDROME; MFS; 163950 NOONAN SYNDROME 1; NS1; 173510 CD36 ANTIGEN; CD36; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 188840 TITIN; TTN; 189909 TRANSCRIPTION FACTOR 8; TCF8; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 209900 BARDET-BIEDL SYNDROME; BBS; 241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND; 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,; 246200 DONOHUE SYNDROME; 257350 NUCHAL BLEB, FAMILIAL; 277700 WERNER SYNDROME; WRN; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; 601164 MOVED TO 241080; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 601785 PHOSPHOMANNOMUTASE 2; PMM2; 601786 PHOSPHOMANNOMUTASE 1; PMM1; 602914 AQUAPORIN 9; AQP9; 604570 SHROOM FAMILY MEMBER 3; SHROOM3; 604743 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 1; DDAH1; 605048 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 605516 CADHERIN 23; CDH23; 605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2; 609693 CHROMOSOME 6 OPEN READING FRAME 27; C6ORF27; 610254 MICRO RNA 133A1; MIRN133A1; 610255 MICRO RNA 133A2; MIRN133A2; 610939 MICRO RNA 192; MIRN192

April 17, 2007
New Entries:: 300646 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 9; ZDHHC9; 610935 LIGAND-GATED ION CHANNEL, ZINC-ACTIVATED, 1; LGICZ1; 610936 PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1; 610937 KIAA1005 GENE
Changed Entries:: 103275 ADRENOMEDULLIN; ADM; 123500 CROUZON SYNDROME; 138079 GLUCOKINASE; GCK; 145500 HYPERTENSION, ESSENTIAL; 158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2; 176882 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, BETA; PTPRB; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 232200 GLYCOGEN STORAGE DISEASE I; 232240 GLYCOGEN STORAGE DISEASE Ic; 232300 GLYCOGEN STORAGE DISEASE II; 232400 GLYCOGEN STORAGE DISEASE III; 232500 GLYCOGEN STORAGE DISEASE IV; 232600 GLYCOGEN STORAGE DISEASE V; 232700 GLYCOGEN STORAGE DISEASE VI; 232800 GLYCOGEN STORAGE DISEASE VII; 240600 GLYCOGEN STORAGE DISEASE 0; 261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE; 270685 SPASTIC PARAPLEGIA 17; SPG17; 277900 WILSON DISEASE; 300559 MUSCLE GLYCOGENOSIS, X-LINKED; 306000 GLYCOGEN STORAGE DISEASE IXa; 400010 DEAD/H BOX 3, Y-LINKED; DBY; 600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5; 600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2; 601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D; 602358 HYPOCRETIN; HCRT; 603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH; 604031 STEAROYL-CoA DESATURASE; SCD; 604549 MOVED TO 172471; 605185 DELTA-LIKE 4; DLL4; 605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 605747 LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1; 607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1; 608163 EXOCYST COMPLEX COMPONENT 7; EXOC7; 609453 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 7; GOLGA7; 610935 LIGAND-GATED ION CHANNEL, ZINC-ACTIVATED, 1; LGICZ1

April 16, 2007
New Entries:: 610931 ZINC FINGER GENE IN AUTOIMMUNE THYROID DISEASE 1; ZFAT1; 610932 TWINFILIN, DROSOPHILA, HOMOLOG OF, 1; TWF1; 610933 LEUCINE-RICH REPEAT- AND STERILE ALPHA MOTIF-CONTAINING 1; LRSAM1; 610934 NEWBORN OVARY HOMEOBOX, MOUSE, HOMOLOG OF; NOBOX
Changed Entries:: 120330 PAPILLORENAL SYNDROME; 140300 HASHIMOTO THYROIDITIS; 144650 HYPERLIPOPROTEINEMIA, TYPE V; 146110 HYPOGONADOTROPIC HYPOGONADISM; 167409 PAIRED BOX GENE 2; PAX2; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 222470 TRICHOHEPATOENTERIC SYNDROME; 238500 MOVED TO 144650; 275000 GRAVES DISEASE; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101; 602383 OSTEOGLYCIN; OGN; 604141 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARFGEF1; 605371 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARFGEF2; 606127 MYOCARDIN; MYOCD; 607323 DUANE-RADIAL RAY SYNDROME; DRRS; 607433 PROTEIN TYROSINE KINASE 9-LIKE; PTK9L; 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3; 610224 SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN; 610932 TWINFILIN, DROSOPHILA, HOMOLOG OF, 1; TWF1

April 13, 2007
New Entries:: 610928 SRY-BOX 17; SOX17; 610929 TRANSMEMBRANE PROTEIN 142B; TMEM142B; 610930 TRANSMEMBRANE PROTEIN 142C; TMEM142C
Changed Entries:: 108300 STICKLER SYNDROME, TYPE I; STL1; 109150 MACHADO-JOSEPH DISEASE; MJD; 118420 CHIARI MALFORMATION TYPE I; 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 123740 CRYSTALLIN, MU; CRYM; 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, DOMINANT FORM; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 130000 EHLERS-DANLOS SYNDROME, TYPE I; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 133180 ERYTHROLEUKEMIA, FAMILIAL; 143050 HUMERORADIAL SYNOSTOSIS; 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; 158170 MONOSOMY 9p SYNDROME; 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 163905 HIGH MOBILITY GROUP BOX 1; HMGB1; 170280 PERFORIN 1; PRF1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 180500 RIEGER SYNDROME, TYPE 1; RIEG1; 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; 186590 SYNTAXIN 1A; STX1A; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS; 194364 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; XRCC5; 236400 HUMERORADIAL SYNOSTOSIS; 236410 HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES; 249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE; 257920 OCULOPALATOSKELETAL SYNDROME; 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY; 265050 CARNEVALE SYNDROME; 300126 DYSKERIN; DKC1; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 300386 CD40 LIGAND; CD40LG; 300552 MIDLINE 1; MID1; 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601031 RHOPHILIN 1; RHPN1; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4; 602229 SRY-BOX 10; SOX10; 602322 TELOMERASE RNA COMPONENT; TERC; 602401 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL RECESSIVE; 604137 MOVED TO 192150; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1; 604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5; 604841 STICKLER SYNDROME, TYPE II; STL2; 605233 DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE; 605309 MACROCEPHALY/AUTISM SYNDROME; 605921 STROMAL INTERACTION MOLECULE 1; STIM1; 606375 MOVED TO 151290; 606584 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 23; PTPN23; 606829 FRATAXIN; FXN; 607047 ATAXIN 3; ATXN3; 608847 FERRITIN, MITOCHONDRIAL; FTMT; 608968 V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B;; 610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2; 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A; Clinical Synopsis for 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Clinical Synopsis for 124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, DOMINANT FORM; Clinical Synopsis for 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; Clinical Synopsis for 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; Clinical Synopsis for 210600 SECKEL SYNDROME 1; Clinical Synopsis for 225280 EEM SYNDROME; Clinical Synopsis for 234100 HALLERMANN-STREIFF SYNDROME; HSS; Clinical Synopsis for 305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD; Clinical Synopsis for 311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1; Clinical Synopsis for 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME

April 12, 2007
New Entries:: 610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9
Changed Entries:: 102200 ACROMEGALY; 109675 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GAL1; 114835 CARBOXYLESTERASE 1; CES1; 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2; 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 193200 VITILIGO; 240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1; 246600 LIPASE, CONGENITAL ABSENCE OF PANCREATIC; 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2; 277700 WERNER SYNDROME; WRN; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300304 CULLIN 4B; CUL4B; 300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;; 600253 ARYL HYDROCARBON RECEPTOR; AHR; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600742 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE III; TGFBR3; 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601530 SEQUESTOSOME 1; SQSTM1; 601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3; 601980 LIPASE, GASTRIC; LIPF; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 603149 INTERLEUKIN 17A; IL17A; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX; 605555 ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; AIP; 606127 MYOCARDIN; MYOCD; 606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1;; 606636 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 1;; 606764 GASTROINTESTINAL STROMAL TUMOR; GIST; 607187 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 1; ST3GAL1; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2; 608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3; Clinical Synopsis for 135500 ZIMMERMANN-LABAND SYNDROME; ZLS

April 11, 2007
New Entries:: 610925 INTERLEUKIN 17 RECEPTOR C; IL17RC; 610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 147280 INSULIN-LIKE GROWTH FACTOR II RECEPTOR; IGF2R; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147796 JANUS KINASE 2; JAK2; 167416 PAIRED BOX GENE 9; PAX9; 269200 SCHMIDT SYNDROME; 600393 FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1; 600448 PROTEIN KINASE C, THETA; PRKCQ; 603149 INTERLEUKIN 17A; IL17A; 603381 FILAMIN B; FLNB; 603589 FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION; 604611 RECQ PROTEIN-LIKE 2; RECQL2; 604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3; 605461 INTERLEUKIN 17 RECEPTOR A; IL17RA; 606496 INTERLEUKIN 17F; IL17F; 606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1;; 606636 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 1;; 607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1; 608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2; 608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3; 608515 NEUTROPHIL CYTOSOLIC FACTOR 2; NCF2; 609400 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4; AIS4; 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7; 610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5; Clinical Synopsis for 605309 MACROCEPHALY/AUTISM SYNDROME

April 10, 2007
New Entries:: 610920 GTP-BINDING PROTEIN 10; GTPBP10; 610922 CHROMOSOME 15 OPEN READING FRAME 2; C15ORF2; 610923 SOLUTE CARRIER FAMILY 35 (UDP-XYLOSE/UDP-N-ACETYLGLUCOSAMINE TRANSPORTER),; 610924 RANBP-TYPE AND C3HC4-TYPE ZINC FINGER-CONTAINING 1; RBCK1
Changed Entries:: 106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1; 114480 BREAST CANCER; 125240 CD55 ANTIGEN; CD55; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 167416 PAIRED BOX GENE 9; PAX9; 176847 PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 601531 LEUKOTRIENE B4 RECEPTOR; LTB4R; 601556 ATAXIN 1; ATXN1; 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8; 602115 FIBROBLAST GROWTH FACTOR 10; FGF10; 603757 CHEMOKINE, CC MOTIF, LIGAND 18; CCL18; 604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3; 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1D; PPM1D; 605773 LEUKOTRIENE B4 RECEPTOR 2; LTB4R2; 606000 BUTYROPHILIN-LIKE PROTEIN 2; BTNL2; 606611 DEFENSIN, BETA, 103A; DEFB103A; 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2; 607834 NEUROTICISM; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8; 610892 SYNAPTOTAGAMIN 14-LIKE PROTEIN; SYT14L

April 9, 2007
New Entries:: 610917 RAS-ASSOCIATED PROTEIN 34; RAB34; 610918 SELENOPROTEIN M; 610919 GTP-BINDING PROTEIN 5; GTPBP5
Changed Entries:: 115310 PARAGANGLIOMAS 4; PGL4; 126337 DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 147680 INTERLEUKIN 2; IL2; 150330 LAMIN A/C; LMNA; 168000 PARAGANGLIOMAS 1; PGL1; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 211350 KYPHOMELIC DYSPLASIA; 262600 PITUITARY DWARFISM III; 313700 ANDROGEN RECEPTOR; AR; 600577 LIM HOMEOBOX GENE 3; LHX3; 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5; 603733 SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 1;; 605836 UNC13, C. ELEGANS, HOMOLOG OF, B; UNC13B; 610919 GTP-BINDING PROTEIN 5; GTPBP5

April 6, 2007
Changed Entries:: 120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1; 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2; 123910 GRANZYME B; GZMB; 139250 GROWTH HORMONE 1; GH1; 140210 HAPTOGLOBIN-RELATED PROTEIN GENE; HPR; 300574 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3; 300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS; 600946 GROWTH HORMONE RECEPTOR; GHR; 601826 DIACYLGLYCEROL KINASE, DELTA, 130-KD; DGKD; 603584 MAP KINASE-ACTIVATING DEATH DOMAIN; MADD; 604071 DIACYLGLYCEROL KINASE, ETA, 130-KD; DGKH; 604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL

April 5, 2007
New Entries:: 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; 610916 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 2; NSUN2; Clinical Synopsis for 608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1
Changed Entries:: 106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1; 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2; 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI; 147660 INTERFERON, ALPHA-1; IFNA1; 150400 TOOTH AGENESIS, SELECTIVE, 4; STHAG4; 158340 MUCIN 1, TRANSMEMBRANE; MUC1; 167416 PAIRED BOX GENE 9; PAX9; 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; 259420 OSTEOGENESIS IMPERFECTA, TYPE III; 265450 PULMONARY VENOOCCLUSIVE DISEASE; PVOD; 300103 SHROOM FAMILY MEMBER 2; SHROOM2; 300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; 300579 SHROOM FAMILY MEMBER 4; SHROOM4; 313500 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1; 600480 TRANSCRIPTION FACTOR 12; TCF12; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12; 602639 TOOTH AGENESIS, SELECTIVE, 2; STHAG2; 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7; 603149 INTERLEUKIN 17A; IL17A; 603667 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12;; 603946 HELICASE, LYMPHOID-SPECIFIC; HELLS; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 604570 SHROOM FAMILY MEMBER 3; SHROOM 3; 604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3; 605461 INTERLEUKIN 17 RECEPTOR A; IL17RA; 606496 INTERLEUKIN 17F; IL17F; 608163 EXO70, S. CEREVISIAE, HOMOLOG OF; 608397 CUB AND SUSHI MULTIPLE DOMAINS 1; CSMD1; 609397 STORKHEAD BOX 1; STOX1; 610339 LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1; LEPRE1; 610816 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 33; SLC25A33; 610844 SPG11 GENE; SPG11; 610909 MINICHROMOSOME MAINTENANCE COMPLEX-BINDING PROTEIN; 610911 CDC42 GTPase-ACTIVATING PROTEIN; 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; Clinical Synopsis for 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

April 4, 2007
New Entries:: 610894 NEUREGULIN 4; NRG4; 610914 ECTO-NOX DISULFIDE-THIOL EXCHANGER 1; ENOX1
Changed Entries:: 142445 NEUREGULIN 1; NRG1; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 165370 RAS HOMOLOG GENE FAMILY, MEMBER B; RHOB; 165380 RAS HOMOLOG GENE FAMILY, MEMBER C; RHOC; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; RHOA; 179505 RAS HOMOLOG GENE FAMILY, MEMBER G; RHOG; 180200 RETINOBLASTOMA; RB1; 189500 WITKOP SYNDROME; 190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 206780 ANODONTIA OF PERMANENT DENTITION; 245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; 259420 OSTEOGENESIS IMPERFECTA, TYPE III; 277900 WILSON DISEASE; 302400 CENTRAL INCISORS, ABSENCE OF; 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1; 601555 RHO FAMILY GTPase 2; RND2; 602924 RHO FAMILY GTPase 3; RND3; 605193 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 3; DIRAS3; 605781 RAS HOMOLOG GENE FAMILY, MEMBER D; RHOD; 605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; RHOQ; 606366 RAS HOMOLOG GENE FAMILY, MEMBER U; RHOU; 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B; 607653 RAS HOMOLOG GENE FAMILY, MEMBER J; RHOJ; 607862 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 1; DIRAS1; 608071 F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4; 608389 BRANCHIOOTIC SYNDROME 3; BOS3; 608462 HIRSCHSPRUNG DISEASE MODIFIER 2; 608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX

April 3, 2007
New Entries:: 610871 SAKODA COMPLEX; 610906 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4; 610909 MINICHROMOSOME MAINTENANCE COMPLEX-BINDING PROTEIN; 610911 CDC42 GTPase-ACTIVATING PROTEIN; 610912 AMELOTIN; AMTN
Changed Entries:: 104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 147880 INTERLEUKIN 6 RECEPTOR; IL6R; 147950 KALLMANN SYNDROME 2; KAL2; 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; 170650 PERIODONTITIS, AGGRESSIVE, 1; 260950 PERIODONTOSIS, JUVENILE; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 300282 ECTO-NOX DISULFIDE-THIOL EXCHANGER 2; ENOX2; 300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY; 300451 ECTODYSPLASIN A; EDA; 300606 HYPODONTIA, X-LINKED; 300644 GALACTOSIDASE, ALPHA; GLA; 301500 FABRY DISEASE; 305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1; 311750 PERIODONTOSIS; 312600 RETINITIS PIGMENTOSA 2, X-LINKED; RP2; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600807 ASTHMA, SUSCEPTIBILITY TO; 601665 OBESITY; 604095 ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR; EDAR; 608526 PERIODONTITIS, AGGRESSIVE, 2; 609188 TTDN1 GENE; TTDN1

April 2, 2007
New Entries:: 610903 VACUOLAR PROTEIN SORTING 36, S. CEREVISIAE, HOMOLOG OF; VPS36; 610904 SNF8, S. CEREVISIAE, HOMOLOG OF; SNF8; 610905 AICARDI-GOUTIERES SYNDROME 5; AGS5; 610907 VACUOLAR PROTEIN SORTING 25, S. CEREVISIAE, HOMOLOG OF; VPS25
Changed Entries:: 134797 FIBRILLIN 1; FBN1; 147750 IVIC SYNDROME; 162091 SCHWANNOMATOSIS; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 176830 PROOPIOMELANOCORTIN; POMC; 180381 G PROTEIN-DEPENDENT RECEPTOR KINASE 1; GRK1; 180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT; 219090 CUSHING DISEASE, PITUITARY; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 226150 ENTEROCOLITIS; 232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA; 232050 PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB; 258100 OGUCHI DISEASE; 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; 300179 X INACTIVATION, FAMILIAL SKEWED, 2; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 602082 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2; 603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 605051 CANNABINOID RECEPTOR 2; CNR2; 605164 HISTONE DEACETYLASE 2; HDAC2; 606054 PROPIONIC ACIDEMIA; 606486 CHMP FAMILY, MEMBER 1B; CHMP1B; 606605 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 607323 DUANE-RADIAL RAY SYNDROME; DRRS; 607343 SAL-LIKE 4; SALL4; 608470 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1; 609049 PIERSON SYNDROME; 609512 CHMP FAMILY, MEMBER 2B; CHMP2B; 610448 CHILBLAIN LUPUS; 610895 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING; 610897 CHMP FAMILY, MEMBER 4B; CHMP4B; 610901 CHMP FAMILY, MEMBER 6; CHMP6; 610903 VACUOLAR PROTEIN SORTING 36, S. CEREVISIAE, HOMOLOG OF; VPS36; 610904 SNF8, S. CEREVISIAE, HOMOLOG OF; SNF8

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