OMIM Update List for April, 2008

PubMed

Nucleotide

Protein

Genome

OMIM Update List for April, 2008

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April 30, 2008
New Entries:: 612016 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9
Changed Entries:: 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 135630 INTEGRIN, BETA-1; ITGB1; 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN; 168600 PARKINSON DISEASE; PD; 176915 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA; 181500 SCHIZOPHRENIA; SCZD; 189967 TEA DOMAIN FAMILY MEMBER 1; TEAD1; 193000 VESICOURETERAL REFLUX 1; VUR1; 222600 DIASTROPHIC DYSPLASIA; 254900 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF; 262600 PITUITARY DWARFISM III; 309550 FMR1 GENE; FMR1; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601442 COFILIN 1; CFL1; 602054 T-BOX 1; TBX1; 602257 SCAVENGER RECEPTOR CLASS B, MEMBER 2; SCARB2; 602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3; 604167 CCCTC-BINDING FACTOR; CTCF; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3; 604651 GROWTH/DIFFERENTIATION FACTOR 7; GDF7; 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2; 606807 INTERLEUKIN 17 RECEPTOR D; IL17RD; 606980 CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1; 607426 COENZYME Q10 DEFICIENCY; 608160 SRY-BOX 9; SOX9; 609078 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 10; FBXL10; 609356 NUCLEAR FRAGILE X MENTAL RETARDATION PROTEIN-INTERACTING PROTEIN 2;; 610104 MICRO RNA 125B1; MIRN125B1; 610105 MICRO RNA 125B2; MIRN125B2; 610368 LEUCINE-RICH REPEATS AND CALPONIN HOMOLOGY DOMAIN-CONTAINING 1; LRCH1; 610566 MICRO RNA 146A; MIRN146A; 611020 MICRO RNA 21; MIRN21; 611901 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 1; VWA1; Clinical Synopsis for 606812 FUMARASE DEFICIENCY

April 29, 2008
Changed Entries:: 140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1; 143100 HUNTINGTON DISEASE; HD; 182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN; 255125 MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 268400 ROTHMUND-THOMSON SYNDROME; RTS; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS; 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1; 600119 SARCOGLYCAN, ALPHA; SGCA; 603780 RECQ PROTEIN-LIKE 4; RECQL4; 603825 HYPERMETHYLATED IN CANCER 1; HIC1; 604149 SARCOGLYCAN, EPSILON; SGCE; 604387 NEPHRONOPHTHISIS 3; NPHP3; 605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2; 606995 SENIOR-LOKEN SYNDROME 3; SLSN3; 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D; 610946 MICRO RNA 133B; MIRN133B; 611908 RFT1, S. CEREVISIAE, HOMOLOG OF; RFT1; 611911 IRON-SULFUR CLUSTER SCAFFOLD, E. COLI, HOMOLOG OF; ISCU

April 28, 2008
New Entries:: 611948 KNOBLOCH SYNDROME, TYPE III; 612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
Changed Entries:: 116952 CELL DIVISION CYCLE 42; CDC42; 120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1; 140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1; 142959 HOMEOBOX A13; HOXA13; 191092 TSC2 GENE; TSC2; 208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; 220500 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM; 267750 KNOBLOCH SYNDROME, TYPE I; 313430 SRY-BOX 3; SOX3; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602732 RHO GTPase-ACTIVATING PROTEIN 1; ARHGAP1; 604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3; 605284 TSC1 GENE; TSC1; 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP; 607108 PAIRED BOX GENE 6; PAX6; 607207 STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1; 607538 NDE1-LIKE 1; NDEL1; 608454 KNOBLOCH SYNDROME, TYPE II; 608552 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B; VPS33B; 609168 SHUGOSHIN-LIKE 1; SGOL1; 611271 KINESIN FAMILY MEMBER 18A; KIF18A; 611633 RTF1, S. CEREVISIAE, HOMOLOG OF; RTF1; 611908 RFT1, S. CEREVISIAE, HOMOLOG OF; RFT1; 612014 TETRATRICOPEPTIDE REPEAT DOMAIN 21B; TTC21B

April 27, 2008
New Entries:: 612014 TETRATRICOPEPTIDE REPEAT DOMAIN 21B; TTC21B
Changed Entries:

April 25, 2008
New Entries:: 612012 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26; 612013 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A
Changed Entries:: 103280 H19 GENE; H19; 104510 AMELOGENESIS IMPERFECTA, TYPE IV; AI4; 128710 EAR PITS, POSTERIOR HELICAL; 135900 COFFIN-SIRIS SYNDROME; 150210 LACTOTRANSFERRIN; LTF; 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP; 174763 POLYMERASE, DNA, GAMMA; POLG; 190320 TRICHODENTOOSSEOUS SYNDROME; 191290 TYROSINE HYDROXYLASE; TH; 191830 RENAL ADYSPLASIA; 194070 WILMS TUMOR 1; WT1; 194071 MULTIPLE TUMOR-ASSOCIATED CHROMOSOME REGION 1; MTACR1; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A; 278150 WOOLLY HAIR, AUTOSOMAL RECESSIVE; 312865 SHORT STATURE HOMEOBOX; SHOX; 600525 DISTAL-LESS HOMEOBOX 3; DLX3; 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1; 603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 605104 ATAXIN 2-BINDING PROTEIN 1; 605330 INTERLEUKIN 22; IL22; 606102 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C; 606127 MYOCARDIN; MYOCD; 606517 ARYLHYDROCARBON RECEPTOR REPRESSOR; AHRR; 607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H; 610055 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 1A; CC2D1A; 611942 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6; EIG6; 611973 MITOCHONDRIAL RIBOSOMAL PROTEIN S6; MRPS6; 611981 MITOCHONDRIAL RIBOSOMAL PROTEIN S18A; MRPS18A; 611982 MITOCHONDRIAL RIBOSOMAL PROTEIN S18B; MRPS18B; 611983 MITOCHONDRIAL RIBOSOMAL PROTEIN S18C; MRPS18C; 611984 MITOCHONDRIAL RIBOSOMAL PROTEIN S21; MRPS21; 611985 MITOCHONDRIAL RIBOSOMAL PROTEIN S23; MRPS23; 611986 MITOCHONDRIAL RIBOSOMAL PROTEIN S24; MRPS24; 611987 MITOCHONDRIAL RIBOSOMAL PROTEIN S25; MRPS25; 611988 MITOCHONDRIAL RIBOSOMAL PROTEIN S26; MRPS26; 611989 MITOCHONDRIAL RIBOSOMAL PROTEIN S27; MRPS27; 611990 MITOCHONDRIAL RIBOSOMAL PROTEIN S28; MRPS28; 611991 MITOCHONDRIAL RIBOSOMAL PROTEIN S30; MRPS30; 611992 MITOCHONDRIAL RIBOSOMAL PROTEIN S31; MRPS31; 611993 MITOCHONDRIAL RIBOSOMAL PROTEIN S33; MRPS33; 611994 MITOCHONDRIAL RIBOSOMAL PROTEIN S34; MRPS34; 611995 MITOCHONDRIAL RIBOSOMAL PROTEIN S35; MRPS35; 611996 MITOCHONDRIAL RIBOSOMAL PROTEIN S36; MRPS36; 611997 MITOCHONDRIAL RIBOSOMAL PROTEIN 63; MRP63; 612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME; 612002 DEP DOMAIN-CONTAINING 1; DEPDC1; 612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2

April 24, 2008
New Entries:: 612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7; 612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8; 612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9; 612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10; 612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11; 612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12; 612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
Changed Entries:: 163950 NOONAN SYNDROME 1; NS1; 176807 PROSTATE CANCER; 191290 TYROSINE HYDROXYLASE; TH; 209850 AUTISM; 212750 CELIAC DISEASE; CD; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 300459 TENOMODULIN; TNMD; 300624 FRAGILE X MENTAL RETARDATION SYNDROME; 300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5; 300704 PROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2; 300707 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS;; 300708 FAMILY WITH SEQUENCE SIMILARITY 58, MEMBER A; FAM58A; 601788 MYOSTATIN; MSTN; 602619 C-TERMINAL-BINDING PROTEIN 2; CTBP2; 603165 DERMATITIS, ATOPIC; 603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1; 603711 CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1; 604685 HOMEOBOX A2; HOXA2; 605093 SH2B ADAPTOR PROTEIN 3; SH2B3; 605556 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE TRANSPORTER-LIKE), MEMBER; 607480 MOVED TO 300424; 607820 HOOK, DROSOPHILA, HOMOLOG OF, 1; 609067 SCLERAXIS, MOUSE, HOMOLOG OF, A; SCXA; 609239 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 5; P2RY5; 611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3; 611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6; 611868 PROSTATE CANCER, HEREDITARY, 12; HPC12; 611913 AUTISM, SUSCEPTIBILITY TO, 14; AUTS14; 611928 PROSTATE CANCER, HEREDITARY, 13; HPC13; 611944 LYMPHEDEMA, HEREDITARY, IB; 611946 UBX DOMAIN-CONTAINING GENE 1; UBXD1; 611947 NLR FAMILY MEMBER X1; NLRX1; 611950 MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING 5; MBOAT5; 611951 B9 DOMAIN-CONTAINING PROTEIN 2; B9D2; 611952 VACUOLAR PROTEIN SORTING 28, YEAST, HOMOLOG OF; VPS28; 611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11; 611954 MICRO RNA 373; MIRN373; 611955 PROSTATE CANCER, HEREDITARY, 11; HPC11; 611956 CHROMOSOME 3 OPEN READING FRAME 52; C3ORF52; 611957 MICRO RNA 378; MIRN378; 611958 PROSTATE CANCER, HEREDITARY, 14; HPC14; 611959 PROSTATE CANCER, HEREDITARY, 15; HPC15; 611960 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7; 611963 ACYL-CoA THIOESTERASE 7-LIKE; 611964 CYTOCHROME b5, TYPE B (OUTER MITOCHONDRIAL MEMBRANE); CYB5B; 611965 THO COMPLEX, SUBUNIT 7; THOC7; 611966 NIK- AND IKBKB-BINDING PROTEIN; 611967 KELCH-LIKE 8; KLHL8; 611968 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD, TAU; 611969 HCCA2 GENE; HCCA2; 611970 MKI67-INTERACTING NUCLEOLAR PHOSPHOPROTEIN; MKI67IP; 611971 MITOCHONDRIAL RIBOSOMAL PROTEIN S2; MRPS2; 611972 MITOCHONDRIAL RIBOSOMAL PROTEIN S5; MRPS5; 611974 MITOCHONDRIAL RIBOSOMAL PROTEIN S7; MRPS7; 611975 MITOCHONDRIAL RIBOSOMAL PROTEIN S9; MRPS9; 611976 MITOCHONDRIAL RIBOSOMAL PROTEIN S10; MRPS10; 611977 MITOCHONDRIAL RIBOSOMAL PROTEIN S11; MRPS11; 611978 MITOCHONDRIAL RIBOSOMAL PROTEIN S14; MRPS14; 611979 MITOCHONDRIAL RIBOSOMAL PROTEIN S15; MRPS15; 611980 MITOCHONDRIAL RIBOSOMAL PROTEIN S17; MRPS17; 611998 cAMP RESPONSIVE ELEMENT-BINDING PROTEIN 3-LIKE 3; CREB3L3; 611999 RAB11 FAMILY-INTERACTING PROTEIN 4; RAB11FIP4; 612000 TRIPARTITE MOTIF-CONTAINING PROTEIN 66; TRIM66; 612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7; 612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8; 612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9; 612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10; 612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11; 612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12

April 23, 2008
New Entries:: 611942 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6; EIG6; 611973 MITOCHONDRIAL RIBOSOMAL PROTEIN S6; MRPS6; 611982 MITOCHONDRIAL RIBOSOMAL PROTEIN S18B; MRPS18B; 611984 MITOCHONDRIAL RIBOSOMAL PROTEIN S21; MRPS21; 611985 MITOCHONDRIAL RIBOSOMAL PROTEIN S23; MRPS23; 611986 MITOCHONDRIAL RIBOSOMAL PROTEIN S24; MRPS24; 611987 MITOCHONDRIAL RIBOSOMAL PROTEIN S25; MRPS25; 611988 MITOCHONDRIAL RIBOSOMAL PROTEIN S26; MRPS26; 611989 MITOCHONDRIAL RIBOSOMAL PROTEIN S27; MRPS27; 611990 MITOCHONDRIAL RIBOSOMAL PROTEIN S28; MRPS28; 611991 MITOCHONDRIAL RIBOSOMAL PROTEIN S30; MRPS30; 611992 MITOCHONDRIAL RIBOSOMAL PROTEIN S31; MRPS31; 611993 MITOCHONDRIAL RIBOSOMAL PROTEIN S33; MRPS33; 611994 MITOCHONDRIAL RIBOSOMAL PROTEIN S34; MRPS34; 611995 MITOCHONDRIAL RIBOSOMAL PROTEIN S35; MRPS35; 611996 MITOCHONDRIAL RIBOSOMAL PROTEIN S36; MRPS36; 611997 MITOCHONDRIAL RIBOSOMAL PROTEIN 63; MRP63; 612004 THROMBOCYTOPENIA 4; THC4
Changed Entries:: 120330 PAPILLORENAL SYNDROME; 123970 CYTOCHROME C, SOMATIC; CYCS; 124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6; 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 167409 PAIRED BOX GENE 2; PAX2; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 188000 THROMBOCYTOPENIA 2; THC2; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 190010 TRANSFERRIN RECEPTOR; TFRC; 191170 TUMOR PROTEIN p53; TP53; 191830 RENAL ADYSPLASIA; 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG; 273900 THROMBOCYTOPENIA 3; THC3; 278150 WOOLLY HAIR, AUTOSOMAL RECESSIVE; 300312 TESTIS-EXPRESSED GENE 13A; TEX13A; 300392 WAS GENE; WAS; 313460 REMOVED FROM DATABASE; 313900 THROMBOCYTOPENIA 1; THC1; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600140 CREB-BINDING PROTEIN; CREBBP; 600274 FRONTOTEMPORAL DEMENTIA; FTD; 600646 PROTEIN C RECEPTOR; PROCR; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 600813 SPLICING FACTOR, ARGININE/SERINE-RICH, 2; SFRS2; 601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1; 601896 TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3; 602074 DEATH-ASSOCIATED PROTEIN 3; DAP3; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 602764 KERATIN 35; KRT35; 603098 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13; 604325 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B; 604326 SPINOCEREBELLAR ATAXIA 12; SCA12; 605104 ATAXIN 2-BINDING PROTEIN 1; 605386 MICRO RNA LET7A1; MIRNLET7A1; 605810 MITOCHONDRIAL RIBOSOMAL PROTEIN S22; MRPS22; 606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H; 608221 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE-LIKE; MASTL; 608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1; 609239 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 5; P2RY5; 609390 KIAA0274; 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1; 611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3; 611559 UROPLAKIN 3A; UPK3A; 611781 PR DOMAIN-CONTAINING PROTEIN 14; PRDM14; 611944 LYMPHEDEMA, HEREDITARY, IB; 611969 HCCA2 GENE; HCCA2; 612002 DEP DOMAIN-CONTAINING 1; DEPDC1; 612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2

April 22, 2008
New Entries:: 611978 MITOCHONDRIAL RIBOSOMAL PROTEIN S14; MRPS14; 611979 MITOCHONDRIAL RIBOSOMAL PROTEIN S15; MRPS15; 611980 MITOCHONDRIAL RIBOSOMAL PROTEIN S17; MRPS17; 611981 MITOCHONDRIAL RIBOSOMAL PROTEIN S18A; MRPS18A; 611983 MITOCHONDRIAL RIBOSOMAL PROTEIN S18C; MRPS18C; 611999 RAB11 FAMILY-INTERACTING PROTEIN 4; RAB11FIP4; 612000 TRIPARTITE MOTIF-CONTAINING PROTEIN 66; TRIM66; 612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME; 612002 DEP DOMAIN-CONTAINING 1; DEPDC1; 612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2
Changed Entries:: 109650 BEHCET SYNDROME; 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7; 148300 KERATOCONUS 1; KTCN1; 180200 RETINOBLASTOMA; RB1; 188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3; 235200 HEMOCHROMATOSIS; HFE; 300086 LYSOPHOSPHATIDIC ACID RECEPTOR 4; LPAR4; 305370 TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1; 600705 SATOYOSHI SYNDROME; 602282 LYSOPHOSPHATIDIC ACID RECEPTOR 1; LPAR1; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604188 SELENIUM-BINDING PROTEIN 1; SELENBP1; 605110 LYSOPHOSPHATIDIC ACID RECEPTOR 2; LPAR2; 605769 TRIPARTITE MOTIF-CONTAINING PROTEIN 33; TRIM33; 606926 LYSOPHOSPHATIDIC ACID RECEPTOR 5; LPAR5; 607854 BESTROPHIN 1; BEST1; 608738 RAB11 FAMILY-INTERACTING PROTEIN 3; RAB11FIP3; 608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8; 609425 CHROMOSOME 3q29 MICRODELETION SYNDROME; 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4; 611978 MITOCHONDRIAL RIBOSOMAL PROTEIN S14; MRPS14; Clinical Synopsis for 106100 ANGIOEDEMA, HEREDITARY; HAE

April 21, 2008
New Entries:: 611970 MKI67-INTERACTING NUCLEOLAR PHOSPHOPROTEIN; MKI67IP; 611971 MITOCHONDRIAL RIBOSOMAL PROTEIN S2; MRPS2; 611972 MITOCHONDRIAL RIBOSOMAL PROTEIN S5; MRPS5; 611974 MITOCHONDRIAL RIBOSOMAL PROTEIN S7; MRPS7; 611975 MITOCHONDRIAL RIBOSOMAL PROTEIN S9; MRPS9; 611976 MITOCHONDRIAL RIBOSOMAL PROTEIN S10; MRPS10; 611977 MITOCHONDRIAL RIBOSOMAL PROTEIN S11; MRPS11; 611998 cAMP RESPONSIVE ELEMENT-BINDING PROTEIN 3-LIKE 3; CREB3L3; Clinical Synopsis for 611926 IMMUNODEFICIENCY, GONADAL DYSGENESIS, AND PULMONARY FIBROSIS
Changed Entries:: 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1; 126900 DUPUYTREN CONTRACTURE; 140559 HEAT-SHOCK 70-KD PROTEIN-LIKE 1; HSPA1L; 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; 181000 SARCOIDOSIS; 300067 LISSENCEPHALY, X-LINKED, 1; LISX1; 300121 DOUBLECORTIN; DCX; 606372 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 10; CHRNA10; 607138 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 4; CREB3L4; 611156 KIAA1815; 611176 CHROMOSOME 14 OPEN READING FRAME 100; C14ORF100; 611926 IMMUNODEFICIENCY, GONADAL DYSGENESIS, AND PULMONARY FIBROSIS; 611971 MITOCHONDRIAL RIBOSOMAL PROTEIN S2; MRPS2

April 18, 2008
New Entries:: 300707 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS;; 300708 FAMILY WITH SEQUENCE SIMILARITY 58, MEMBER A; FAM58A; 611944 LYMPHEDEMA, HEREDITARY, IB; 611966 NIK- AND IKBKB-BINDING PROTEIN; 611967 KELCH-LIKE 8; KLHL8; 611968 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD, TAU; 611969 HCCA2 GENE
Changed Entries:: 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; 126449 DOPAMINE RECEPTOR D1; DRD1; 135940 FILAGGRIN; FLG; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 146700 ICHTHYOSIS VULGARIS; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 152800 LYMPHANGIECTASIA, INTESTINAL; 153100 LYMPHEDEMA, HEREDITARY, IA; 153200 LYMPHEDEMA, HEREDITARY, II; 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL; 173610 SELECTIN P; SELP; 176912 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, BETA; PRKAR2B; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 189907 HNF1 HOMEOBOX B; HNF1B; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD; 274180 THROMBOXANE A SYNTHASE 1; TBXAS1; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600577 LIM HOMEOBOX GENE 3; LHX3; 601446 MOVED TO 300707; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3; 604479 SIRTUIN 1; SIRT1; 604659 ENDOGENOUS RETROVIRAL FAMILY W, ENV-C7, MEMBER 1; ERVWE1; 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5; 605803 DERMATITIS, ATOPIC, 2; ATOD2; 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2; 605845 DERMATITIS, ATOPIC, 6; ATOD6; 606626 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 1; 607860 YY1 ASSOCIATED PROTEIN 1; YY1AP1; 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6; 610376 CHEMOKINE, CXC MOTIF, RECEPTOR 7; CXCR7; 610524 HUMAN ENDOGENOUS RETROVIRUS FRD ENVELOPE PROTEIN; 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8; 611313 LOC387715 GENE; 611632 UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1; 611894 MICRO RNA 140; MIRN140; 611931 PROTEIN PHOSPHATASE 1-LIKE; PPM1L; 611966 NIK- AND IKBKB-BINDING PROTEIN

April 17, 2008
New Entries:: 300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5; 300704 PROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2; 611868 PROSTATE CANCER, HEREDITARY, 12; HPC12; 611928 PROSTATE CANCER, HEREDITARY, 13; HPC13; 611955 PROSTATE CANCER, HEREDITARY, 11; HPC11; 611958 PROSTATE CANCER, HEREDITARY, 14; HPC14; 611959 PROSTATE CANCER, HEREDITARY, 15; HPC15; 611960 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7; 611961 STEVENSON-CAREY SYNDROME; 611962 HUNTER-MACDONALD SYNDROME; 611963 ACYL-CoA THIOESTERASE 7-LIKE; 611964 CYTOCHROME b5, TYPE B (OUTER MITOCHONDRIAL MEMBRANE); CYB5B; 611965 THO COMPLEX, SUBUNIT 7; THOC7
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 157145 MICROSEMINOPROTEIN, BETA; MSMB; 161550 NASOPHARYNGEAL CARCINOMA; 176807 PROSTATE CANCER; 189907 HNF1 HOMEOBOX B; HNF1B; 191170 TUMOR PROTEIN p53; TP53; 203800 ALSTROM SYNDROME; ALMS; 250790 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5; 274180 THROMBOXANE A SYNTHASE 1; TBXAS1; 300114 MENTAL RETARDATION, X-LINKED 49; MRX49; 300553 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3; 300659 MENTAL RETARDATION, X-LINKED 93; MRX93; 300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5; 302500 SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1; 600274 FRONTOTEMPORAL DEMENTIA; FTD; 600807 ASTHMA, SUSCEPTIBILITY TO; 601525 CHITINASE 3-LIKE 1; CHI3L1; 604207 COPINE III; CPNE3; 606127 MYOCARDIN; MYOCD; 606246 JUXTAPOSED WITH ANOTHER ZINC FINGER GENE 1; JAZF1; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607107 NASOPHARYNGEAL CARCINOMA 1; 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;; 607822 ALZHEIMER DISEASE 3; 608658 PROSTATE CANCER, HEREDITARY, 4; 609922 EH DOMAIN-BINDING PROTEIN 1; EHBP1; 610989 LEMUR TYROSINE KINASE 2; LMTK2; 611868 PROSTATE CANCER, HEREDITARY, 12; HPC12; 611963 ACYL-CoA THIOESTERASE 7-LIKE

April 16, 2008
New Entries:: 611946 UBX DOMAIN-CONTAINING GENE 1; UBXD1; 611956 CHROMOSOME 3 OPEN READING FRAME 52; C3ORF52; 611957 MICRO RNA 378; MIRN378
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 105850 ANGIOGENIN; ANG; 114550 HEPATOCELLULAR CARCINOMA; 114760 CARBONIC ANHYDRASE IV; CA4; 116200 CATARACT, ZONULAR PULVERULENT 1; CZP1; 116955 ZINC FINGER PROTEIN 9; ZNF9; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1; 123811 ACTIVATING TRANSCRIPTION FACTOR 2; ATF2; 124092 INTERLEUKIN 10; IL10; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 131530 EPIDERMAL GROWTH FACTOR; EGF; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 200150 CHOREOACANTHOCYTOSIS; CHAC; 208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS; 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE; 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM; 253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; 271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA; 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; 300084 NON-POU DOMAIN-CONTAINING OCTAMER-BINDING PROTEIN; NONO; 301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3; 301835 ARTS SYNDROME; ARTS; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600852 RETINITIS PIGMENTOSA 17; RP17; 601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1; 601153 FRAGILE HISTIDINE TRIAD GENE; FHIT; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 1; CCL3L1; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602668 DYSTROPHIA MYOTONICA 2; DM2; 603031 TOLL-LIKE RECEPTOR 5; TLR5; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 1; CCL4L1; 604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2; 604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1; 605978 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A; VPS13A; 606471 NUCLEOLAR PROTEIN FAMILY A, MEMBER 3; NOLA3; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU; 607052 TUMOR SUPPRESSOR CANDIDATE 2; TUSC2; 607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2; 608764 NICOTINAMIDE PHOSPHORIBOSYLTRANSFERASE; NAMPT; 608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8; 609425 CHROMOSOME 3q29 MICRODELETION SYNDROME; 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM; 611100 PROSTATE CANCER, HEREDITARY, 10; HPC10; 611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9; 611930 INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 2; ISG20L2; 611931 PROTEIN PHOSPHATASE 1-LIKE; PPM1L; 611932 CDGSH IRON SULFUR DOMAIN PROTEIN 1; CISD1; 611933 CDGSH IRON SULFUR DOMAIN PROTEIN 3; CISD3; 611934 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5; 611935 CHROMOSOME 2 OPEN READING FRAME 25; C2ORF25; 611936 CHROMOSOME 3q29 MICRODUPLICATION SYNDROME; 611937 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE 3-3; IGHD3-3; 611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2; 611939 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE 3-23; IGHV3-23; 611940 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 4; MBOAT4; 611941 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 2; ATAD2; Clinical Synopsis for 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; Clinical Synopsis for 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE; Clinical Synopsis for 271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA

April 15, 2008
New Entries:: 611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11; 611954 MICRO RNA 373; MIRN373
Changed Entries:: 106210 ANIRIDIA, TYPE II; AN2; 108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 143100 HUNTINGTON DISEASE; HD; 163890 SYNUCLEIN, ALPHA; SNCA; 192090 CADHERIN 1; CDH1; 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1; 229300 FRIEDREICH ATAXIA 1; FRDA; 230800 GAUCHER DISEASE, TYPE I; 300147 PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1; 303100 CHOROIDEREMIA; CHM; 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD; 500001 LEBER OPTIC ATROPHY AND DYSTONIA; 516000 COMPLEX I, SUBUNIT ND1; MTND1; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 600374 BBS4 GENE; BBS4; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5; 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; 602619 C-TERMINAL-BINDING PROTEIN 2; CTBP2; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2; 603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3; 604214 KREV INTERACTION TRAPPED 1; KRIT1; 604312 CYSTATIN 3; CST3; 607108 PAIRED BOX GENE 6; PAX6; 607929 CCM2 GENE; CCM2; 608625 PEPTIDYL-tRNA HYDROLASE 2; PTRH2; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609118 PROGRAMMED CELL DEATH 10; PDCD10; 610349 MEF2-ACTIVATING SAP TRANSCRIPTIONAL REGULATOR; 611767 MICRO RNA 126; MIRN126; 611947 NLR FAMILY MEMBER X1; NLRX1; 611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11

April 14, 2008
New Entries:: 611947 NLR FAMILY MEMBER X1; NLRX1; 611949 MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING 2; MBOAT2; 611950 MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING 5; MBOAT5; 611951 B9 DOMAIN-CONTAINING PROTEIN 2; B9D2; 611952 VACUOLAR PROTEIN SORTING 28, YEAST, HOMOLOG OF; VPS28
Changed Entries:: 107730 APOLIPOPROTEIN B; APOB; 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD; 135940 FILAGGRIN; FLG; 142910 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR; 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF; 160120 EPISODIC ATAXIA, TYPE 1; EA1; 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 218300 CRANIODIAPHYSEAL DYSPLASIA; CDD; 270685 SPASTIC PARAPLEGIA 17; SPG17; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2; 600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5; 601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101; 602005 SORTILIN-RELATED RECEPTOR; SORL1; 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2; 602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 603165 DERMATITIS, ATOPIC; 604479 SIRTUIN 1; SIRT1; 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5; 605284 TSC1 GENE; TSC1; 605803 DERMATITIS, ATOPIC, 2; ATOD2; 606001 INTERLEUKIN 32; IL32; 606158 BSCL2 GENE; BSCL2; 606167 G PROTEIN-COUPLED RECEPTOR 132; GPR132; 606437 MYOKYMIA WITH NEONATAL EPILEPSY; 607359 DELETED IN BREAST CANCER 1; 609676 VIRUS-INDUCED SIGNALING ADAPTOR; 609927 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, A; VPS37A; 610037 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, B; VPS37B; 610038 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, C; VPS37C; 611732 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 1; MBOAT1; 611916 COLLAGEN, TYPE XXIX, ALPHA-1; COL29A1; Clinical Synopsis for 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE; Clinical Synopsis for 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9

April 11, 2008
New Entries:: 611943 RIDDLE SYNDROME
Changed Entries:: 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1; 100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 116805 CATENIN, ALPHA-1; CTNNA1; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 123690 CRYSTALLIN, GAMMA-D; CRYGD; 126150 HEPARIN-BINDING EGF-LIKE GROWTH FACTOR; HBEGF; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 134370 COMPLEMENT FACTOR H; CFH; 138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 162700 NEUTROPENIA, CHRONIC FAMILIAL; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA; 194080 DENYS-DRASH SYNDROME; DDS; 200610 ACHONDROGENESIS, TYPE II; ACG2; 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 313700 ANDROGEN RECEPTOR; AR; 600112 DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1; 600726 INDIAN HEDGEHOG; IHH; 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 602809 KINESIN FAMILY MEMBER 5B; KIF5B; 603165 DERMATITIS, ATOPIC; 603381 FILAMIN B; FLNB; 604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2; 605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1; 605248 MUCOLIPIN 1; MCOLN1; 605705 SNF1-LIKE KINASE; SNF1LK; 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2; 605844 DERMATITIS, ATOPIC, 5; ATOD5; 605845 DERMATITIS, ATOPIC, 6; ATOD6; 606471 NUCLEOLAR PROTEIN FAMILY A, MEMBER 3; NOLA3; 606505 PIN2-INTERACTING PROTEIN 1; 607397 MELANOCORTIN 2 RECEPTOR; MC2R; 607399 MUCOLIPIN 2; MCOLN2; 607400 MUCOLIPIN 3; MCOLN3; 609576 ACYL-CoA DEHYDROGENASE, LONG-CHAIN; ACADL; 609683 DNA CROSS-LINK REPAIR PROTEIN 1B; DCLRE1B; 611731 APC GENE; 611862 WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1

April 10, 2008
New Entries:: 611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
Changed Entries:: 106100 ANGIOEDEMA, HEREDITARY; HAE; 109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3; 114251 CALSEQUESTRIN 2; CASQ2; 116806 CATENIN, BETA-1; CTNNB1; 126700 BASAL LAMINAR DRUSEN; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 134370 COMPLEMENT FACTOR H; CFH; 136533 FORKHEAD BOX O1A; FOXO1A; 137575 GIGANTIFORM CEMENTOMA, FAMILIAL; 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP; 168600 PARKINSON DISEASE; PD; 171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4; 176640 PRION PROTEIN; PRNP; 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE; 233400 GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; 268130 REVESZ SYNDROME; 271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 312750 RETT SYNDROME; RTT; 600620 FK506-BINDING PROTEIN 1B; FKBP1B; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1; 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3; 604277 SPG4 GENE; SPG4; 604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2; 604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1; 606009 DOUBLE HOMEOBOX PROTEIN 4; DUX4; 606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2; 606463 GLUCOSIDASE, BETA, ACID; GBA; 606471 NUCLEOLAR PROTEIN FAMILY A, MEMBER 3; NOLA3; 606597 PAIRED BOX GENE 3; PAX3; 607060 PARKINSON DISEASE 8; PARK8; 607358 AUTOIMMUNE REGULATOR; AIRE; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609491 G PROTEIN SIGNALING MODULATOR 1; GPSM1

April 9, 2008
New Entries:: 611934 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5; 611936 CHROMOSOME 3q29 MICRODUPLICATION SYNDROME; 611940 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 4; MBOAT4; 611941 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 2; ATAD2
Changed Entries:: 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1; 100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND; 104510 AMELOGENESIS IMPERFECTA, TYPE IV; AI4; 118502 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2; 119530 OROFACIAL CLEFT 1; OFC1; 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; 123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON; 130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3; 146970 IMMUNOGLOBULIN KAPPA LIGHT CHAIN JOINING GENE CLUSTER; IGKJ@; 146980 IMMUNOGLOBULIN KAPPA LIGHT CHAIN VARIABLE GENE CLUSTER; IGKV@; 147230 IMMUNOGLOBULIN LAMBDA LIGHT CHAIN JOINING GENE CLUSTER; IGLJ@; 147240 IMMUNOGLOBULIN LAMBDA LIGHT CHAIN VARIABLE GENE CLUSTER; IGLV@; 151100 LEOPARD SYNDROME 1; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 190320 TRICHODENTOOSSEOUS SYNDROME; 204650 AMELOGENESIS IMPERFECTA, TYPE IC; AI1C; 208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS; 214800 CHARGE SYNDROME; 253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; 600525 DISTAL-LESS HOMEOBOX 3; DLX3; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 600757 OROFACIAL CLEFT 3; OFC3; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 601665 OBESITY; 601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA; 604966 PROTOCADHERIN-ALPHA GENE CLUSTER; PCDHA@; 604967 PROTOCADHERIN-BETA GENE CLUSTER; PCDHB@; 604968 PROTOCADHERIN-GAMMA GENE CLUSTER; PCDHG@; 605353 GHRELIN; GHRL; 606585 ENAMELIN; ENAM; 607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607108 PAIRED BOX GENE 6; PAX6; 607342 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 1; CPEB1; 608563 MOVED TO 204650; 609425 CHROMOSOME 3q29 MICRODELETION SYNDROME; 610376 CHEMOKINE, CXC MOTIF, RECEPTOR 7; CXCR7; 610855 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 26; ANKRD26; 611632 UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1; 611927 FAMILY WITH SEQUENCE SIMILARITY, MEMBER H; FAM83H; Clinical Synopsis for 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA; Clinical Synopsis for 204650 AMELOGENESIS IMPERFECTA, TYPE IC; AI1C; Clinical Synopsis for 257980 ODONTOONYCHODERMAL DYSPLASIA; OODD; Clinical Synopsis for 608563 MOVED TO 204650; Clinical Synopsis for 609162 CZECH DYSPLASIA, METATARSAL TYPE

April 8, 2008
New Entries:: 611930 INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 2; ISG20L2; 611939 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE 3-23; IGHV3-23
Changed Entries:: 104510 AMELOGENESIS IMPERFECTA, TYPE 4; AI4; 116806 CATENIN, BETA-1; CTNNB1; 128990 EARLY GROWTH RESPONSE 1; EGR1; 146910 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE CLUSTER; IGHD@; 147010 IMMUNOGLOBULIN HEAVY CHAIN JOINING GENE CLUSTER; IGHJ@; 147070 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE CLUSTER; IGHV@; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 153550 CHROMOSOME 5q DELETION SYNDROME; 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL; 164160 LEPTIN; LEP; 180902 RYANODINE RECEPTOR 2; RYR2; 206920 MICROPHTHALMIA WITH LIMB ANOMALIES; 266920 RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA,; 300243 MENTAL RETARDATION, X-LINKED, SOUTH AFRICAN TYPE; 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; 600620 FK506-BINDING PROTEIN 1B; FKBP1B; 601626 LEUKEMIA, ACUTE MYELOID; AML; 601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES; 603759 LIM HOMEOBOX GENE 2; LHX2; 604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1; 608764 NICOTINAMIDE PHOSPHORIBOSYLTRANSFERASE; NAMPT; 611552 NICOTINATE PHOSPHORIBOSYLTRANSFERASE DOMAIN-CONTAINING 1; NAPRT1; 611731 APC GENE; 611937 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE 3-3; IGHD3-3; Clinical Synopsis for 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6

April 7, 2008
New Entries:: 611937 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE 3-3; IGHD3-3
Changed Entries:: 109150 MACHADO-JOSEPH DISEASE; MJD; 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL; 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; 187950 THROMBOCYTHEMIA, ESSENTIAL; 218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN; 254450 MYELOFIBROSIS; 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 604878 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 6;; 606169 MOVED TO 277410; 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 610844 SPG11 GENE; SPG11; 611935 CHROMOSOME 2 OPEN READING FRAME 25; C2ORF25; Clinical Synopsis for 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA; Clinical Synopsis for 257980 ODONTOONYCHODERMAL DYSPLASIA; OODD; Clinical Synopsis for 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; Clinical Synopsis for 607330 LATHOSTEROLOSIS; Clinical Synopsis for 609162 CZECH DYSPLASIA, METATARSAL TYPE

April 4, 2008
New Entries:: 611935 CHROMOSOME 2 OPEN READING FRAME 25; C2ORF25
Changed Entries:: 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 137800 GLIOMA OF BRAIN, FAMILIAL; 160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 162220 MOVED TO 162200 AND 606764; 162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 190990 TROPOMYOSIN 2; TPM2; 191290 TYROSINE HYDROXYLASE; TH; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM; 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID; 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; 300142 p21-ACTIVATED KINASE 3; PAK3; 300558 MENTAL RETARDATION, X-LINKED 30; MRX30; 602378 DYNAMIN 2; DNM2; 603009 DYSFERLIN; DYSF; 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE; 606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2; 606428 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A3; UGT1A3; 606429 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A4; UGT1A4; 606431 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A6; UGT1A6; 606432 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A7; UGT1A7; 606433 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A8; UGT1A8; 606434 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A9; UGT1A9; 606435 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A10; UGT1A10; 606764 GASTROINTESTINAL STROMAL TUMOR; GIST; 607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE; 607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS; 609285 NEMALINE MYOPATHY 4; NEM4; 609831 MMACHC GENE; MMACHC; 611409 OCA2 GENE

April 3, 2008
New Entries:: 611931 PROTEIN PHOSPHATASE 1-LIKE; PPM1L; 611932 CDGSH IRON SULFUR DOMAIN PROTEIN 1; CISD1; 611933 CDGSH IRON SULFUR DOMAIN PROTEIN 3; CISD3
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL; 174700 POLYDACTYLY, PREAXIAL IV; 185300 STURGE-WEBER SYNDROME; 188400 DIGEORGE SYNDROME; DGS; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 218040 COSTELLO SYNDROME; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 602109 MATRILIN 3; MATN3; 602286 STEROL C5-DESATURASE-LIKE; SC5DL; 602448 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5; 602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7; 602666 MYOSIN XVA; MYO15A; 604928 WOLFRAM SYNDROME 2; WFS2; 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2; 606432 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A7; UGT1A7; 606433 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A8; UGT1A8; 606434 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A9; UGT1A9; 606435 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A10; UGT1A10; 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5; 607330 LATHOSTEROLOSIS; 607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; 608363 MICRODUPLICATION 22q11.2; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 611409 OCA2 GENE; 611507 CDGSH IRON SULFUR DOMAIN PROTEIN 2; CISD2; Clinical Synopsis for 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD

April 2, 2008
New Entries:: 611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9; 611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III
Changed Entries:: 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING; 103780 ALCOHOL DEPENDENCE; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 105850 ANGIOGENIN; ANG; 107730 APOLIPOPROTEIN B; APOB; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1; 134850 FIBRINOGEN, G GAMMA POLYPEPTIDE; FGG; 142910 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR; 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; 151670 LIPASE, HEPATIC; LIPC; 162323 TACHYKININ RECEPTOR 1; TACR1; 168600 PARKINSON DISEASE; PD; 176400 PRECOCIOUS PUBERTY, CENTRAL; 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; 211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1; 211920 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II; 219090 PITUITARY ADENOMA, ACTH-SECRETING; 300100 ADRENOLEUKODYSTROPHY; ALD; 300699 MENTAL RETARDATION, X-LINKED 94; MRX94; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600634 PITUITARY ADENOMA, PROLACTIN-SECRETING; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 604107 G PROTEIN-COUPLED RECEPTOR 55; GPR55; 605361 SPINOCEREBELLAR ATAXIA 14; SCA14; 605373 PARAGANGLIOMAS 3; PGL3; 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6; 609025 KERATIN 75; KRT75; 609134 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 2; UBR2; 611907 EPISODIC ATAXIA, TYPE 7; EA7; 611913 AUTISM, SUSCEPTIBILITY TO, 14; AUTS14; 611914 TSC22 DOMAIN FAMILY, MEMBER 4; TSC22D4; 611915 EGFR-COAMPLIFIED AND OVEREXPRESSED PROTEIN; 611916 COLLAGEN, TYPE XXIX, ALPHA-1; COL29A1; 611917 JUMONJI DOMAIN-CONTAINING PROTEIN 5; JMJD5; 611918 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72; 611919 MYC-ASSOCIATED PROTEIN WITH JMJC DOMAIN; 611920 C-REACTIVE PROTEIN QUANTITATIVE TRAIT LOCUS; 611921 GAP JUNCTION PROTEIN, BETA-7; GJB7; 611922 GAP JUNCTION PROTEIN, DELTA-4; GJD4; 611923 GAP JUNCTION PROTEIN, ALPHA-9; GJA9; 611924 GAP JUNCTION PROTEIN, ALPHA-10; GJA10; 611925 GAP JUNCTION PROTEIN, GAMMA-3; GJC3; 611927 FAMILY WITH SEQUENCE SIMILARITY, MEMBER H; FAM83H

April 1, 2008
New Entries:: 300699 MENTAL RETARDATION, X-LINKED 94; MRX94; Clinical Synopsis for 611918 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72
Changed Entries:: 104155 AT MOTIF-BINDING FACTOR 1; ATBF1; 107730 APOLIPOPROTEIN B; APOB; 107741 APOLIPOPROTEIN E; APOE; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 133170 ERYTHROPOIETIN; EPO; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 142910 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 151670 LIPASE, HEPATIC; LIPC; 157600 MIRROR MOVEMENTS, HEREDITARY; 168600 PARKINSON DISEASE; PD; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 301500 FABRY DISEASE; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600244 PROGRAMMED CELL DEATH 1; PDCD1; 600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2; 601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1; 603148 ACTIVATING TRANSCRIPTION FACTOR 3; ATF3; 603406 TRIPARTITE MOTIF-CONTAINING PROTEIN 24; TRIM24; 604475 RETICULON 4; RTN4; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 605317 FORKHEAD BOX P2; FOXP2; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605558 FIBROBLAST GROWTH FACTOR 20; FGF20; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 606991 INOSITOL HEXAPHOSPHATE KINASE 1; IHPK1; 607060 PARKINSON DISEASE 8; PARK8; 607218 INTERFERON REGULATORY FACTOR 5; IRF5; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 608678 INTERLEUKIN 33; IL33; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6; 609708 LIPOPROTEIN LIPASE; LPL; 611162 MALARIA, SUSCEPTIBILITY TO; 611711 MICRO RNA 433; MIRN433; 611918 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72; Clinical Synopsis for 130900 AMELOGENESIS IMPERFECTA, TYPE 3; AI3; Clinical Synopsis for 606437 MYOKYMIA WITH NEONATAL EPILEPSY

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