OMIM Update List for May, 2007

PubMed

Nucleotide

Protein

Genome

OMIM Update List for May, 2007

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May 31, 2007
New Entries:: 611068 SMALL NUCLEOLAR RNA, C/D BOX, 43; SNORD43; 611069 RNA, U86 SMALL NUCLEOLAR; 611070 SMALL NUCLEOLAR RNA, C/D BOX, 83A; SNORD83A; 611071 SMALL NUCLEOLAR RNA, C/D BOX, 83B; SNORD83B
Changed Entries:: 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE; 100730 CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE; CHRNG; 104311 PRESENILIN 1; PSEN1; 107272 CD72 ANTIGEN; CD72; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 120270 COLLAGEN, TYPE IX, ALPHA-3; COL9A3; 158600 SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT; 163950 NOONAN SYNDROME 1; NS1; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 188470 THYROID CARCINOMA, FOLLICULAR; FTC; 223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL; 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C; 256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5; 300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 2, X-LINKED; CFTD2; 600451 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4; AKR1C4; 600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR; 600759 PRESENILIN 2; PSEN2; 600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3; 601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK; 603966 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C3; AKR1C3; 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B; 605173 ECTODERMAL-NEURAL CORTEX 1; ENC1; 605204 TORSIN-A; DYT1; 605340 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 7; CYP3A7; 606873 HEXOSAMINIDASE B; HEXB; 607453 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 44; DFNA44; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608102 CLN5 GENE; CLN5; 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR; 609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; 609396 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE; PHLPP; 610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; 611051 COILED-COIL DOMAIN-CONTAINING PROTEIN 50; CCDC50; 611068 SMALL NUCLEOLAR RNA, C/D BOX, 43; SNORD43; Clinical Synopsis for 254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H; Clinical Synopsis for 254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL; Clinical Synopsis for 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; Clinical Synopsis for 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; Clinical Synopsis for 604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E; Clinical Synopsis for 604801 MUSCULAR DYSTROPHY, CONGENITAL, 1B; Clinical Synopsis for 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C; Clinical Synopsis for 608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL; Clinical Synopsis for 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR; Clinical Synopsis for 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

May 30, 2007
New Entries:: 611062 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER A; FAM20A; 611063 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER B; FAM20B; 611064 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5; 611065 PROTEIN PHOSPHATASE, PP2C DOMAIN-CONTAINING, 1K; PPM1K; 611066 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE-LIKE; PHLPPL
Changed Entries:: 104310 ALZHEIMER DISEASE 2; 107741 APOLIPOPROTEIN E; APOE; 113705 BREAST CANCER 1 GENE; BRCA1; 142590 HLA-B-ASSOCIATED TRANSCRIPT 3; BAT3; 142959 HOMEOBOX A13; HOXA13; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 163950 NOONAN SYNDROME 1; NS1; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 176270 PRADER-WILLI SYNDROME; PWS; 182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN; 185490 SUPEROXIDE DISMUTASE 3; SOD3; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 201000 CARPENTER SYNDROME; 267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS; 300257 DANON DISEASE; 308700 KALLMANN SYNDROME 1; KAL1; 600807 ASTHMA, SUSCEPTIBILITY TO; 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT; 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601684 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 1; RPS6KA1; 601955 CYCLIN-DEPENDENT KINASE 7; CDK7; 602054 T-BOX 1; TBX1; 602162 SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1; 602451 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 6; P2RY6; 602568 METHIONINE SYNTHASE REDUCTASE; MTRR; 602731 FYN-BINDING PROTEIN; FYB; 603943 CYSTEINE DIOXYGENASE, TYPE I; CDO1; 604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3; 604466 METHYLTRANSFERASE-LIKE 1; METTL1; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 604687 PROSTAGLANDIN D2 RECEPTOR; PTGDR; 607209 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 10; CARD10; 607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 608177 EXOSTOSIN 1; EXT1; 609110 F-BOX ONLY PROTEIN 43; FBXO43; 609327 MICRO RNA 124A1; MIRN124A1; 610221 AKT1 SUBSTRATE 1, PROLINE-RICH; AKT1S1; 610312 PIWI-LIKE 2: PIWIL2; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; 611061 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C; Clinical Synopsis for 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY

May 29, 2007
New Entries:: 611058 PEROXISOME BIOGENESIS FACTOR 5-LIKE; PEX5L; 611061 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C
Changed Entries:: 113000 BRACHYDACTYLY, TYPE B1; BDB1; 118509 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4; 120810 COMPLEMENT COMPONENT 4A; C4A; 138079 GLUCOKINASE; GCK; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2; 202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM; 207900 ARGININOSUCCINIC ACIDURIA; 235730 MOWAT-WILSON SYNDROME; 253250 MULIBREY NANISM; 261100 MEGALOBLASTIC ANEMIA 1; MGA1; 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1; 600414 PEROXISOME BIOGENESIS FACTOR 5; PEX5; 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2; 601641 ACYL-CoA OXIDASE 2, BRANCHED-CHAIN; ACOX2; 601963 TETRATRICOPEPTIDE REPEAT DOMAIN 1; TTC1; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2; 605073 TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37; 605799 AMNIONLESS, MOUSE, HOMOLOG OF; AMN; 606144 RAS-ASSOCIATED PROTEIN RAB23; RAB23; 607449 G PROTEIN-COUPLED RECEPTOR 74; GPR74; 607622 PHOSPHOMEVALONATE KINASE; PMVK; 610382 PROSOPAGNOSIA, HEREDITARY; 610954 PITT-HOPKINS SYNDROME; PTHS; 610969 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 1; TRAPPC1; 611058 PEROXISOME BIOGENESIS FACTOR 5-LIKE; PEX5L; Clinical Synopsis for 201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II

May 23, 2007
New Entries:: 611053 RUN AND SH3 DOMAIN-CONTAINING 2; RUSC2; 611054 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING; 611055 SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B; 611056 SELENOCYSTEINE LYASE; SCLY; 611057 ZINC FINGER PROTEIN 588; ZNF588; 611059 TRANSMEMBRANE PROTEIN 113; TMEM113; 611060 SET-BINDING PROTEIN 1; SETBP1; Clinical Synopsis for 300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10; Clinical Synopsis for 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; Clinical Synopsis for 608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B; Clinical Synopsis for 610420 PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1; Clinical Synopsis for 610422 ALOPECIA-MENTAL RETARDATION SYNDROME 2
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 114480 BREAST CANCER; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 164015 MATRIN 3; MATR3; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 167400 PAROXYSMAL EXTREME PAIN DISORDER; 176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 182940 NEURAL TUBE DEFECTS; 184450 STUTTERING, FAMILIAL PERSISTENT 1; STUT1; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1; 209850 AUTISM; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP; 265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1; 267450 RESPIRATORY DISTRESS SYNDROME; RDS; 273300 TESTICULAR TUMORS; 300032 ATR-X GENE; ATRX; 300647 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B; 305700 SERTOLI CELL-ONLY SYNDROME; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE; 600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C; 600697 RETINOBLASTOMA-BINDING PROTEIN 5; RBBP5; 600960 SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED; SET; 601093 FORKHEAD BOX I1; FOXI1; 601263 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2; 601378 CRISPONI SYNDROME; 602287 CHROMOSOME 12 OPEN READING FRAME 8; C12ORF8; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602972 PHOSPHODIESTERASE 8A; PDE8A; 603141 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING; 603142 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING; 603143 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING; 603144 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING; 603145 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING; 603545 ENLARGED VESTIBULAR AQUEDUCT; 604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3; 604481 SIRTUIN 3; SIRT3; 604557 ZINC FINGER PROTEIN 423; ZNF423; 604782 ASH2-LIKE; ASH2L; 605389 HYPOTRICHOSIS SIMPLEX; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 606080 ACIDIC MAMMALIAN CHITINASE; 607449 G PROTEIN-COUPLED RECEPTOR 74; GPR74; 607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; PARL; 608483 AKT-INTERACTING PROTEIN; AKTIP; 608636 AUTISM, SUSCEPTIBILITY TO, 4; AUTS4; 608765 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3; 609012 WD REPEAT-CONTAINING PROTEIN 5; WDR5; 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8; 609150 CXXC FINGER PROTEIN 1; CXXC1; 609261 STUTTERING, FAMILIAL PERSISTENT 2; STUT2; 609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6; 610132 VANG-LIKE 1; VANGL1; 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7; 610420 PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1; 610422 ALOPECIA-MENTAL RETARDATION SYNDROME 2; 610676 AUTISM, SUSCEPTIBILITY TO, 7; AUTS7; 610747 STERILE ALPHA MOTIF DOMAIN-CONTAINING 4A; SAMD4A; 610836 AUTISM, SUSCEPTIBILITY TO, 11; AUTS11; 610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2; 610914 ECTO-NOX DISULFIDE-THIOL EXCHANGER 1; ENOX1; 610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3; 610944 MICRO RNA 216; MIRN216; 610948 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7; 610949 SYNAPTOTAGMIN 14; SYT14; 610950 SYNAPTOTAGMIN 16; SYT16; 610952 CROOKED NECK PRE-mRNA SPLICING FACTOR-LIKE 1; CRNKL1; 610953 PIF1, S. CEREVISIAE, HOMOLOG OF; PIF1; 610954 PITT-HOPKINS SYNDROME; PTHS; 610955 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 3; TRAPPC3; 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; MIRN376B; 610962 SMG5, C. ELEGANS, HOMOLOG OF; SMG5; 610963 SMG6, C. ELEGANS, HOMOLOG OF; SMG6; 610964 SMG7, C. ELEGANS, HOMOLOG OF; SMG7; 610965 XFE PROGEROID SYNDROME; 610966 FATSO, MOUSE, HOMOLOG OF; FTO; 610969 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 1; TRAPPC1; 610970 TRAFFICKING PROTEIN PARTICLE COMPLEX 2-LIKE; TRAPPC2L; 610971 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 4; TRAPPC4; 610972 ADHERENS JUNCTION-ASSOCIATED PROTEIN 1; AJAP1; 610973 MEMBRANE PROTEIN, PALMITOYLATED 7; MPP7; 610975 SKIN-, EMBRYO-, BRAIN-, AND OOCYTE-SPECIFIC HOMEOBOX; 610976 APOLIPOPROTEIN B mRNA EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3H;; 610977 TETRACYCLINE TRANSPORTER-LIKE PROTEIN; 610978 CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS; 610979 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 2A; HISPPD2A; 610980 KCNQ1 DOWNSTREAM NEIGHBOR; KCNQ1DN; 610981 WWBP2 N-TERMINAL-LIKE PROTEIN; WBP2NL; 610982 CHROMOSOME 14 OPEN READING FRAME 173; C14ORF173; 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 2C; ASAH2C; 610989 LEMUR TYROSINE KINASE 2; LMTK2; 610990 KIAA1949 GENE; KIAA1949; 610991 OBSCURIN-LIKE 1; OBSL1; 610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; 610993 UBIQUITIN-SPECIFIC PROTEASE 44; USP44; 610995 PRENYLCYSTEINE OXIDASE 1; PCYOX1; 610996 D-TYROSYL-tRNA DEACYLASE 1, S. CEREVISIAE, HOMOLOG OF; DTD1; 611003 SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1; 611004 SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2; 611015 AUTISM, SUSCEPTIBILITY TO, 9; AUTS9; 611016 AUTISM, SUSCEPTIBILITY TO, 10; AUTS10; 611041 TRIPARTITE MOTIF-CONTAINING PROTEIN 47; TRIM47; 611052 SET DOMAIN-CONTAINING PROTEIN 1A; SETD1A; 611053 RUN AND SH3 DOMAIN-CONTAINING 2; RUSC2; 611055 SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B; 611056 SELENOCYSTEINE LYASE; SCLY; 611059 TRANSMEMBRANE PROTEIN 113; TMEM113; Clinical Synopsis for 128230 DYSTONIA, DOPA-RESPONSIVE; DRD; Clinical Synopsis for 167400 PAROXYSMAL EXTREME PAIN DISORDER; Clinical Synopsis for 203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1; Clinical Synopsis for 218040 COSTELLO SYNDROME; Clinical Synopsis for 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH; Clinical Synopsis for 232800 GLYCOGEN STORAGE DISEASE VII; Clinical Synopsis for 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3; Clinical Synopsis for 601764 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1; Clinical Synopsis for 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; Clinical Synopsis for 607745 SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE; Clinical Synopsis for 608687 SPINOCEREBELLAR ATAXIA 20; SCA20; Clinical Synopsis for 608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1

May 22, 2007
New Entries:: 300648 CANCER/TESTIS ANTIGEN 45; 611050 MYELOPROLIFERATIVE DISEASE-ASSOCIATED ANTIGEN, 6-KD; 611051 COILED-COIL DOMAIN-CONTAINING PROTEIN 50; CCDC50; 611052 SET DOMAIN-CONTAINING PROTEIN 1A; SETD1A; Clinical Synopsis for 300614 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY; Clinical Synopsis for 604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20; Clinical Synopsis for 608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2; Clinical Synopsis for 609814 COMPLEMENT FACTOR H DEFICIENCY; Clinical Synopsis for 610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL; Clinical Synopsis for 610419 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68; Clinical Synopsis for 610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY; Clinical Synopsis for 610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2; Clinical Synopsis for 610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1; Clinical Synopsis for 610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2; Clinical Synopsis for 610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3; Clinical Synopsis for 610978 CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
Changed Entries:: 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 122559 CORTICOTROPIN-RELEASING HORMONE-BINDING PROTEIN; CRHBP; 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1; 138090 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD; 142920 HLA-DO HISTOCOMPATIBILITY TYPE; HLA-DO; 153370 INTEGRIN, ALPHA-L; ITGAL; 159500 MYELINATED OPTIC NERVE FIBERS; 163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 176830 PROOPIOMELANOCORTIN; POMC; 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B; 180200 RETINOBLASTOMA; RB1; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 218040 COSTELLO SYNDROME; 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE; 254195 MOVED TO 608931; 300292 FORKHEAD BOX P3; FOXP3; 600065 INTEGRIN, BETA-2; ITGB2; 600526 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 2; MARK2; 601421 LYSYL-tRNA SYNTHETASE; KARS; 601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6; 602687 MOVED TO 603072; 603072 AURORA KINASE A; AURKA; 604931 CORTISONE REDUCTASE DEFICIENCY; 605152 COILED-COIL DOMAIN-CONTAINING PROTEIN 19; CCDC19; 606484 MYOTROPHIN; MTPN; 606622 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 607528 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 4; ROBO4; 609150 CXXC FINGER PROTEIN 1; CXXC1; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 609708 LIPOPROTEIN LIPASE; LPL; 610315 PIWI-LIKE 4; PIWIL4; 610970 TRAFFICKING PROTEIN PARTICLE COMPLEX 2-LIKE; TRAPPC2L; 611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2; 611052 SET DOMAIN-CONTAINING PROTEIN 1A; SETD1A; Clinical Synopsis for 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Clinical Synopsis for 117550 SOTOS SYNDROME; Clinical Synopsis for 118700 CHOREA, BENIGN HEREDITARY; BHC; Clinical Synopsis for 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; Clinical Synopsis for 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,; Clinical Synopsis for 122559 CORTICOTROPIN-RELEASING HORMONE-BINDING PROTEIN; CRHBP; Clinical Synopsis for 125520 CAYLER CARDIOFACIAL SYNDROME; Clinical Synopsis for 130720 LATERAL MENINGOCELE SYNDROME; Clinical Synopsis for 135900 COFFIN-SIRIS SYNDROME; Clinical Synopsis for 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE; Clinical Synopsis for 142900 HOLT-ORAM SYNDROME; HOS; Clinical Synopsis for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS; Clinical Synopsis for 146510 PALLISTER-HALL SYNDROME; PHS; Clinical Synopsis for 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; Clinical Synopsis for 160980 CARNEY COMPLEX, TYPE 1; CNC1; Clinical Synopsis for 164210 HEMIFACIAL MICROSOMIA; HFM; Clinical Synopsis for 164280 FEINGOLD SYNDROME; Clinical Synopsis for 169100 CHAR SYNDROME; Clinical Synopsis for 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1; Clinical Synopsis for 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; Clinical Synopsis for 188400 DIGEORGE SYNDROME; DGS; Clinical Synopsis for 192350 VATER ASSOCIATION; Clinical Synopsis for 201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II; Clinical Synopsis for 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; Clinical Synopsis for 211750 C SYNDROME; Clinical Synopsis for 214100 ZELLWEGER SYNDROME; ZS; Clinical Synopsis for 233500 GORLIN-CHAUDHRY-MOSS SYNDROME; Clinical Synopsis for 235200 HEMOCHROMATOSIS; HFE; Clinical Synopsis for 235730 MOWAT-WILSON SYNDROME; Clinical Synopsis for 239711 HYPERTELORISM AND TETRALOGY OF FALLOT; Clinical Synopsis for 239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA; Clinical Synopsis for 241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND; Clinical Synopsis for 243310 IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION; Clinical Synopsis for 246570 FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME; Clinical Synopsis for 249000 MECKEL SYNDROME, TYPE 1; MKS1; Clinical Synopsis for 254195 MOVED TO 608931; Clinical Synopsis for 256520 NEU-LAXOVA SYNDROME; NLS; Clinical Synopsis for 268300 ROBERTS SYNDROME; RBS; Clinical Synopsis for 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; Clinical Synopsis for 275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL; Clinical Synopsis for 300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT; Clinical Synopsis for 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Clinical Synopsis for 309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1; Clinical Synopsis for 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; Clinical Synopsis for 600065 INTEGRIN, BETA-2; ITGB2; Clinical Synopsis for 601803 PALLISTER-KILLIAN SYNDROME; PKS; Clinical Synopsis for 601927 LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES; Clinical Synopsis for 602535 MARSHALL-SMITH SYNDROME; Clinical Synopsis for 606156 SENER SYNDROME; Clinical Synopsis for 607872 MONOSOMY 1p36 SYNDROME; Clinical Synopsis for 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND; Clinical Synopsis for 608454 KNOBLOCH SYNDROME, TYPE II; Clinical Synopsis for 608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; Clinical Synopsis for 609029 EMANUEL SYNDROME; Clinical Synopsis for 609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1; Clinical Synopsis for 609192 LOEYS-DIETZ SYNDROME; LDS; Clinical Synopsis for 609308 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K; Clinical Synopsis for 609625 CHROMOSOME 10q DELETION SYNDROME; Clinical Synopsis for 609814 COMPLEMENT FACTOR H DEFICIENCY; Clinical Synopsis for 610814 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10

May 21, 2007
New Entries:: 611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2; 611046 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2; 611047 RETINOIC ACID EARLY TRANSCRIPT 1L; RAET1L; 611048 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15A; PPP1R15A; 611049 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; Clinical Synopsis for 610984 COMPLEMENT FACTOR I DEFICIENCY
Changed Entries:: 104640 AMPHIREGULIN; AREG; 106150 ANGIOTENSIN I; AGT; 109091 CALRETICULIN; CALR; 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A; 126337 DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3; 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO; 300259 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED; 300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA; 300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1; 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; 601922 ANGIOPOIETIN 2; ANGPT2; 603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6; 603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP; 603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1; 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3; 604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4; 604216 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 604378 BECLIN 1; BECN1; 604683 KINESIN FAMILY MEMBER 3A; KIF3A; 606125 TRIPARTITE MOTIF-CONTAINING PROTEIN 8; TRIM8; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO; 607949 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1; 608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1; 608750 ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3; 610961 MICRO RNA 376-B; MIRN376B; 610987 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2C; ASAH2C; 610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; 611034 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 611048 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15A; PPP1R15A; Clinical Synopsis for 160120 EPISODIC ATAXIA, TYPE 1; EA1; Clinical Synopsis for 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS; Clinical Synopsis for 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C

May 18, 2007
New Entries:: 611043 LIN28, C. ELEGANS, HOMOLOG OF; LIN28; 611044 LIN28, C. ELEGANS, HOMOLOG OF, B; LIN28B; 611045 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3
Changed Entries:: 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 139300 AROMATASE EXCESS SYNDROME; AEXS; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 147810 INTERLEUKIN 1 RECEPTOR, TYPE I; IL1R1; 232200 GLYCOGEN STORAGE DISEASE I; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603046 RING FINGER PROTEIN 139; RNF139; 607406 GENETHONIN 1; 608058 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 2; G6PC2; 608625 PEPTIDYL-tRNA HYDROLASE 2; PTRH2; 608849 U2AF HOMOLOGY MOTIF KINASE 1; UHMK1; 608880 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 16; ZFYVE16; 609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1; 609684 MAL PROTEOLIPID PROTEIN 2; MAL2; 611032 SPERMATOGENESIS-ASSOCIATED PROTEIN 17; SPATA17; 611035 CHROMOSOME 2 OPEN READING FRAME 13; C2ORF13; 611044 LIN28, C. ELEGANS, HOMOLOG OF, B; LIN28B

May 17, 2007
New Entries:: 611032 SPERMATOGENESIS-ASSOCIATED PROTEIN 17; SPATA17; 611035 CHROMOSOME 2 OPEN READING FRAME 13; C2ORF13; 611036 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 611037 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER),; 611038 MICROPHTHALMIA, ISOLATED 3; MCOP3; 611039 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 611040 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS,; 611041 TRIPARTITE MOTIF-CONTAINING PROTEIN 47; TRIM47; 611042 LATE CORNIFIED ENVELOPE-LIKE PROLINE-RICH 1; LELP1
Changed Entries:: 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 157100 MICROPHTHALMIA, PIGMENTARY RETINOPATHY, CATARACT, AND GLAUCOMA; 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B; 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA; 212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2; 236200 HOMOCYSTINURIA; 251600 MICROPHTHALMIA, ISOLATED 1; MCOP1; 300017 FILAMIN A; FLNA; 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2; 301590 MICROPHTHALMIA, SYNDROMIC 4; MCOPS4; 304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2; 309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1; 309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7; 600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1; 601881 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX; 604399 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1B; PPP1R1B; 606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP; 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6; 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2; 607426 COENZYME Q10 DEFICIENCY; 607429 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1; PDSS1; 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6; 609825 COQ2, S. CEREVISIAE, HOMOLOG OF; COQ2; 610093 MICROPHTHALMIA, ISOLATED 2; MCOP2; 610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5; 610126 MOVED TO 607932; 610814 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10; 611038 MICROPHTHALMIA, ISOLATED 3; MCOP3

May 16, 2007
New Entries:: 611033 CHROMOSOME 11 OPEN READING FRAME 21; C11ORF21; 611034 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER
Changed Entries:: 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 111250 LANDSTEINER-WIENER BLOOD GROUP; LW; 120980 INTEGRIN, ALPHA-M; ITGAM; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 146630 INTERCELLULAR ADHESION MOLECULE 2; ICAM2; 146631 INTERCELLULAR ADHESION MOLECULE 3; ICAM3; 147781 INTERLEUKIN 4 RECEPTOR; IL4R; 153370 INTEGRIN, ALPHA-L; ITGAL; 153618 MACROPHAGE MANNOSE RECEPTOR; MRC1; 160900 DYSTROPHIA MYOTONICA 1; 164860 MET PROTOONCOGENE; MET; 176801 PROSAPOSIN; PSAP; 186711 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 7; TNFRSF7; 186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB; 186990 T-LYMPHOCYTE SURFACE CD2 ANTIGEN; CD2; 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1; 192975 INTEGRIN, ALPHA-4; ITGA4; 209850 AUTISM; 212720 MARTSOLF SYNDROME; 600776 FRYNS MICROPHTHALMIA SYNDROME; 600886 HYPERFERRITINEMIA-CATARACT SYNDROME; 600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2; 601852 INTERCELLULAR ADHESION MOLECULE 5; ICAM5; 602037 RAS HOMOLOG GENE FAMILY, MEMBER H; RHOH; 602069 NEUROPILIN 1; NRP1; 602731 FYN-BINDING PROTEIN; FYB; 603961 SEMAPHORIN 3A; SEMA3A; 604216 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 604850 COP9, SUBUNIT 5; COPS5; 604969 SRC FAMILY-ASSOCIATED PHOSPHOPROTEIN 1; SCAP1; 605314 HISTONE DEACETYLASE 4; HDAC4; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 605397 CD226 ANTIGEN; CD226; 605721 JUNCTION ADHESION MOLECULE 1; JAM1; 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2; 606159 BASAL GANGLIA DISEASE, ADULT-ONSET; 607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5; 608457 CHROMOBOX HOMOLOG 7; CBX7; 609337 BIC GENE; 611025 CHROMOSOME 10 OPEN READING FRAME 63; C10ORF63; 611027 SHC SH2 DOMAIN-BINDING PROTEIN 1; SHCBP1; Clinical Synopsis for 606054 PROPIONIC ACIDEMIA

May 15, 2007
New Entries:: 611025 CHROMOSOME 10 OPEN READING FRAME 63; C10ORF63; 611026 FATTY ACID 2-HYDROXYLASE; FA2H; 611027 SHC SH2 DOMAIN-BINDING PROTEIN 1; SHCBP1; 611028 TRANSMEMBRANE PROTEIN 30A; TMEM30A; 611029 TRANSMEMBRANE PROTEIN 30B; TMEM30B; 611030 TRANSMEMBRANE PROTEIN 30C; TMEM30C
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 105850 ANGIOGENIN; ANG; 107941 ARRESTIN, BETA, 2; ARRB2; 111250 LANDSTEINER-WIENER BLOOD GROUP; LW; 115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1; 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1; 120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION; 120980 INTEGRIN, ALPHA-M; ITGAM; 135630 INTEGRIN, BETA-1; ITGB1; 146631 INTERCELLULAR ADHESION MOLECULE 3; ICAM3; 147559 INTEGRIN, BETA-7; ITGB7; 147670 INSULIN RECEPTOR; INSR; 147781 INTERLEUKIN 4 RECEPTOR; IL4R; 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1; 151510 INTEGRIN, ALPHA-X; ITGAX; 153370 INTEGRIN, ALPHA-L; ITGAL; 155770 MELANOMA TUMOR ANTIGEN GP90; 164180 OCULOCEREBROCUTANEOUS SYNDROME; 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 173470 INTEGRIN, BETA-3; ITGB3; 176807 PROSTATE CANCER; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 211890 CAMPOMELIA, CUMMING TYPE; 227650 FANCONI ANEMIA; FA; 601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2; 601665 OBESITY; 602129 MYOSIN IXB; MYO9B; 602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3; 602457 FAS-ASSOCIATED VIA DEATH DOMAIN; FADD; 602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2; 605380 FIBROBLAST GROWTH FACTOR 23; FGF23; 605627 CEREBROOCULONASAL SYNDROME; 605661 TRIPARTITE MOTIF-CONTAINING PROTEIN 13; TRIM13; 605856 SHORT STATURE, MENTAL RETARDATION, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA,; 606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2; 606529 CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE; 606649 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 3; HIVEP3; 606951 INTERFERON INDUCED WITH HELICASE C DOMAIN PROTEIN 1; IFIH1; 607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5; 607130 REGULATORY ASSOCIATED PROTEIN OF MTOR; 607415 G30 GENE; 608071 F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4; 608660 INSULIN-INDUCED GENE 2; INSIG2; 609708 LIPOPROTEIN LIPASE; LPL; 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER; 609958 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3; 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7; 610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1; 610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3; 610859 RGD-, LEUCINE-RICH REPEAT-, TROPOMODULIN DOMAIN-, AND PROLINE-RICH; 610882 SJOGREN SYNDROME NUCLEAR AUTOANTIGEN 1; SSNA1; 610887 POLYMERASE, DNA, NU; POLN; 611025 CHROMOSOME 10 OPEN READING FRAME 63; C10ORF63; 611027 SHC SH2 DOMAIN-BINDING PROTEIN 1; SHCBP1; Clinical Synopsis for 237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO

May 14, 2007
New Entries:: 610676 AUTISM, SUSCEPTIBILITY TO, 7; AUTS7; 610836 AUTISM, SUSCEPTIBILITY TO, 11; AUTS11; 610838 AUTISM, SUSCEPTIBILITY TO, 12; AUTS12; 610908 AUTISM, SUSCEPTIBILITY TO, 13; AUTS13; 610997 PROSTATE CANCER, HEREDITARY, 9; 611010 FIBROMATOSIS, GINGIVAL, 4; GINGF4; 611015 AUTISM, SUSCEPTIBILITY TO, 9; AUTS9; 611016 AUTISM, SUSCEPTIBILITY TO, 10; AUTS10; 611024 ZINC FINGER PROTEIN 667; ZNF667
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES; 112500 BRACHYDACTYLY, TYPE A1; BDA1; 114550 HEPATOCELLULAR CARCINOMA; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 131310 ENGRAILED 2; EN2; 135300 FIBROMATOSIS, GINGIVAL, 1; GINGF; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 139250 GROWTH HORMONE 1; GH1; 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS; 147421 INCLUSION BODY MYOSITIS; 147870 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 164210 HEMIFACIAL MICROSOMIA; HFM; 164860 MET PROTOONCOGENE; MET; 173470 INTEGRIN, BETA-3; ITGB3; 173510 CD36 ANTIGEN; CD36; 176807 PROSTATE CANCER; 180200 RETINOBLASTOMA; RB1; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 188400 DIGEORGE SYNDROME; DGS; 188450 THYROGLOBULIN; TG; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 191339 UBIQUITIN B; UBB; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 209850 AUTISM; 313700 ANDROGEN RECEPTOR; AR; 600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E; 600726 INDIAN HEDGEHOG; IHH; 601142 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER; 602186 VGF, NERVE GROWTH FACTOR-INDUCIBLE; VGF; 603031 TOLL-LIKE RECEPTOR 5; TLR5; 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 607373 AUTISM, SUSCEPTIBILITY TO, 8; AUTS8; 607759 INTEGRIN, ALPHA-2B; ITGA2B; 608636 AUTISM, SUSCEPTIBILITY TO, 4; AUTS4; 608837 CARNEY COMPLEX VARIANT; 609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6; 609397 STORKHEAD BOX 1; STOX1; 609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4; 610031 POLYMICROGYRIA, UNILATERAL; 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7; 610858 CHROMOSOME 14 OPEN READING FRAME 166; C14ORF166; 611015 AUTISM, SUSCEPTIBILITY TO, 9; AUTS9; 611023 tRNA METHYLTRANSFERASE 5; TRMT5

May 11, 2007
New Entries:: 611014 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8; 611017 TRYPSIN DOMAIN-CONTAINING PROTEIN 1; TYSND1; 611018 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2B; PAIP2B; 611019 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E2; ATP6V0E2; 611020 MICRO RNA 21; MIRN21; 611021 NMD3, S. CEREVISIAE, HOMOLOG OF; NMD3; 611023 tRNA METHYLTRANSFERASE 5; TRMT5; Clinical Synopsis for 610814 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10
Changed Entries:: 107730 APOLIPOPROTEIN B; APOB; 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES; 114480 BREAST CANCER; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 135630 INTEGRIN, BETA-1; ITGB1; 144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL; 145500 HYPERTENSION, ESSENTIAL; 150330 LAMIN A/C; LMNA; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 154790 PROTEASE INHIBITOR 5; PI5; 160120 EPISODIC ATAXIA, TYPE 1; EA1; 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL; 170650 PERIODONTITIS, AGGRESSIVE, 1; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 176270 PRADER-WILLI SYNDROME; PWS; 176806 PROSTAGLANDIN E RECEPTOR 3, EP3 SUBTYPE; PTGER3; 176807 PROSTATE CANCER; 182940 NEURAL TUBE DEFECTS; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 191010 TROPOMYOSIN 1; TPM1; 192968 INTEGRIN, ALPHA-1; ITGA1; 206920 MICROPHTHALMIA WITH LIMB ANOMALIES; 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1; 219800 CYSTINOSIS, NEPHROPATHIC; CTNS; 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD; 251700 MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA,; 260950 PERIODONTITIS, CHRONIC; 268320 RODRIGUES BLINDNESS; 272550 TACHYCARDIA, HYPERTENSION, MICROPHTHALMIA, AND HYPERGLYCINURIA; 300292 FORKHEAD BOX P3; FOXP3; 300485 BCL6 COREPRESSOR; BCOR; 303600 COFFIN-LOWRY SYNDROME; CLS; 311750 MOVED TO 170650; 535000 LEBER OPTIC ATROPHY; 600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 600776 FRYNS MICROPHTHALMIA SYNDROME; 601023 VALOSIN-CONTAINING PROTEIN; VCP; 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C; 602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8; 602365 CATHEPSIN C; CTSC; 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2; 603884 BCL2-ASSOCIATED ATHANOGENE 4; BAG4; 603931 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E1; ATP6V0E1; 604214 KREV INTERACTION TRAPPED 1; KRIT1; 604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3; 605184 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 1; PAIP1; 605290 OPA1 GENE; OPA1; 605604 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2; PAIP2; 605856 SHORT STATURE, MENTAL RETARDATION, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA,; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1; 607270 KIAA0442; 607281 LSM1 PROTEIN; LSM1; 607702 CHROMOSOME 8 OPEN READING FRAME 4; C8ORF4; 607929 CCM2 GENE; CCM2; 607961 SEMAPHORIN 7A; SEMA7A; 608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2; 608562 POLYDACTYLY, POSTAXIAL, TYPE A4; 610132 VANG-LIKE 1; VANGL1; 610814 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10; 610949 SYNAPTOTAGMIN 14; SYT14; 611005 RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 2; RKHD2; 611011 CHROMOSOME 19 OPEN READING FRAME 6; C19ORF6; 611014 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8; Clinical Synopsis for 209850 AUTISM; Clinical Synopsis for 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; Clinical Synopsis for 608636 AUTISM, SUSCEPTIBILITY TO, 1A

May 9, 2007
New Entries:: 611006 IRON-SULFUR CLUSTER ASSEMBLY 1, S. CEREVISIAE, HOMOLOG OF; ISCA1; 611007 MEX3, C. ELEGANS, HOMOLOG OF, A; 611008 RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 3; RKHD3; 611009 RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 1; RKHD1; 611011 CHROMOSOME 19 OPEN READING FRAME 6; C19ORF6; 611012 REGULATOR OF G PROTEIN SIGNALING-LIKE 1; RGSL1; 611013 REGULATOR OF G PROTEIN SIGNALING-LIKE 2; RGSL2
Changed Entries:: 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B; 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1; 211350 KYPHOMELIC DYSPLASIA; 232400 GLYCOGEN STORAGE DISEASE III; 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS; 245190 KNIEST-LIKE DYSPLASIA, LETHAL; 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300032 ATR-X GENE; ATRX; 300646 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 9; ZDHHC9; 309520 MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS; 600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 601665 OBESITY; 604140 DEATH INDUCER-OBLITERATOR 1; DIDO1; 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12; 606683 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 6; FXYD6; 610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11; 610780 LARGE SUBUNIT GTPase 1, S. CEREVISIAE, HOMOLOG OF; LSG1; 610874 SPERMATOGENESIS- AND CENTRIOLE-ASSOCIATED 1; SPATC1; 611005 RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 2; RKHD2; 611007 MEX3, C. ELEGANS, HOMOLOG OF, A; 611012 REGULATOR OF G PROTEIN SIGNALING-LIKE 1; RGSL1; 611013 REGULATOR OF G PROTEIN SIGNALING-LIKE 2; RGSL2

May 8, 2007
New Entries:: 610998 METEORIN; METRN; 610999 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 1; EPC1; 611000 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 2; EPC2; 611001 CHROMOSOME 1 OPEN READING FRAME 149; C1ORF149; 611002 CHROMOSOME 16 OPEN READING FRAME 30; C16ORF30; 611003 SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1; 611004 SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2; 611005 RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 2; RKHD2
Changed Entries:: 106210 ANIRIDIA, TYPE II; AN2; 109636 BETA-ADRENERGIC RECEPTOR KINASE 2; ADRBK2; 109800 BLADDER CANCER; 120200 COLOBOMA, OCULAR; 120430 COLOBOMA OF OPTIC NERVE; 132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; 137215 GASTRIC CANCER; 137800 GLIOMA OF BRAIN, FAMILIAL; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; 151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT; 153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS; 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B; 162900 NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; 165550 OPTIC NERVE HYPOPLASIA, BILATERAL; 167415 PAIRED BOX GENE 8; PAX8; 174900 JUVENILE POLYPOSIS SYNDROME; JPS; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 176920 PROTEUS SYNDROME; 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC; 184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO; 207410 ANTLEY-BIXLER SYNDROME; ABS; 215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 271700 SPONDYLOPERIPHERAL DYSPLASIA; 275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL; 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS; 277700 WERNER SYNDROME; WRN; 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1; 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; 601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP; 602116 YEATS DOMAIN-CONTAINING PROTEIN 4; YEATS4; 603124 UBIQUITIN-CONJUGATING ENZYME E2G 2; UBE2G2; 603956 CERVICAL CANCER; 604867 TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16; 605309 MACROCEPHALY/AUTISM SYNDROME; 605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; 607174 MENINGIOMA, FAMILIAL; 607303 MORTALITY FACTOR 4-LIKE PROTEIN 1; MORF4L1; 607493 INHIBITOR OF GROWTH 3; ING3; 607920 CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY; 608056 LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY,; 608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY; 609189 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, A; ASF1A; 610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; 611004 SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2

May 7, 2007
New Entries:: 610994 KUA GENE; 610995 PRENYLCYSTEINE OXIDASE 1; PCYOX1; 610996 D-TYROSYL-tRNA DEACYLASE 1, S. CEREVISIAE, HOMOLOG OF; DTD1
Changed Entries:: 109700 BETA-2-MICROGLOBULIN; B2M; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 147570 INTERFERON, GAMMA; IFNG; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 166220 OSTEOGENESIS IMPERFECTA, TYPE IV; 176873 CELL DIVISION CYCLE 2-LIKE 1; CDC2L1; 180300 RHEUMATOID ARTHRITIS; RA; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191160 TUMOR NECROSIS FACTOR; TNF; 253250 MULIBREY NANISM; 259420 OSTEOGENESIS IMPERFECTA, TYPE III; 300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2; 300646 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 9; ZDHHC9; 309520 MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS; 309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 601290 STRATIFIN; SFN; 601991 NEUROONCOLOGIC VENTRAL ANTIGEN 2; NOVA2; 602995 UBIQUITIN-CONJUGATING ENZYME E2 VARIANT 1; UBE2V1; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 606934 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR; 608388 EVOLUTIONARILY-CONSERVED SIGNALING INTERMEDIATE IN TOLL PATHWAY; ECSIT; 610093 MICROPHTHALMIA, ISOLATED 2; MCOP2; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; 610814 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10; Clinical Synopsis for 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B

May 4, 2007
New Entries:: 610984 COMPLEMENT FACTOR I DEFICIENCY
Changed Entries:: 120830 COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA; C4BPA; 133520 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4; 134370 COMPLEMENT FACTOR H; CFH; 138470 COMPLEMENT FACTOR B; CFB; 164015 MATRIN 3; MATR3; 217030 COMPLEMENT FACTOR I; CFI; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS; 300126 DYSKERIN; DKC1; 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; 600939 INTERLEUKIN 11 RECEPTOR, ALPHA; IL11RA; 602695 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12; 602697 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 11; P2RY11; 603251 CYCLIN-DEPENDENT KINASE 9; CDK9; 604706 MOVED TO 164015; 605357 STONIN 1; STON1; 606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT; 607793 PETER PAN, DROSOPHILA, HOMOLOG OF; PPAN; 609814 COMPLEMENT FACTOR H DEFICIENCY; 610672 BTB/POZ DOMAIN-CONTAINING PROTEIN 14B; BTBD14B; 610954 PITT-HOPKINS SYNDROME; PTHS; 610965 XFE PROGEROID SYNDROME

May 3, 2007
New Entries:: 610993 UBIQUITIN-SPECIFIC PROTEASE 44; USP44
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A; 176981 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2-LIKE 1; GNB2L1; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 273300 TESTICULAR TUMORS; 600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600230 PHOSPHOLIPASE C, BETA-3; PLCB3; 600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2; 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601665 OBESITY; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603412 CDC42-BINDING PROTEIN KINASE ALPHA; CDC42BPA; 603466 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 1; ELAVL1; 603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1; 604365 PROMININ 1; PROM1; 604479 SIRTUIN 1; SIRT1; 605650 POLYMERASE, DNA, KAPPA; POLK; 607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM; 608071 F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4; 609834 SET AND MARINER TRANSPOSASE DOMAINS-CONTAINING PROTEIN; SETMAR; 610126 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6; 610355 PARTNER AND LOCALIZER OF BRCA2; PALB2; 610569 UBIQUITIN-SPECIFIC PROTEASE 24; USP24; 610570 UBIQUITIN-SPECIFIC PROTEASE 40; USP40; 610672 BTB/POZ DOMAIN-CONTAINING PROTEIN 14B; BTBD14B; 610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4; 610814 ANOPHTHALMIA, SYNDROMIC, WITH MILD FACIAL DYSMORPHISM AND NORMAL INTRAUTERINE; 610844 SPG11 GENE; SPG11

May 2, 2007
New Entries:: 610978 CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS; 610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Changed Entries:: 118700 CHOREA, BENIGN HEREDITARY; BHC; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 181800 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO,; IS1; 303600 COFFIN-LOWRY SYNDROME; CLS; 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 601711 TNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1; 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1; 602253 KRUPPEL-LIKE FACTOR 4; KLF4; 602303 p300/CBP-ASSOCIATED FACTOR; PCAF; 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 605386 MICRO RNA LET7A1; MIRNLET7A1; 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU; 607354 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2; IS2; 608765 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3; 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 609261 STUTTERING, FAMILIAL PERSISTENT 2; STUT2; 609416 MICRO RNA 17; MIRN17; 609422 MICRO RNA 92-1; MIRN92-1; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 610936 PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1

May 1, 2007
Changed Entries:: 107940 ARRESTIN, BETA, 1; ARRB1; 107941 ARRESTIN, BETA, 2; ARRB2; 116806 CATENIN, BETA-1; CTNNB1; 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4; 118510 CHOLINERGIC RECEPTOR, MUSCARINIC, 1; CHRM1; 120700 COMPLEMENT COMPONENT 3; C3; 125855 DIACYLGLYCEROL KINASE, ALPHA, 80-KD; DGKA; 152690 THYROID AUTOANTIGEN, 70-KD; G22P1; 163970 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE),; 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2; 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 176262 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER; 176970 PROTEIN KINASE C, BETA-1; PRKCB1; 188400 DIGEORGE SYNDROME; DGS; 190196 TRANSGLUTAMINASE 2; TGM2; 191170 TUMOR PROTEIN p53; TP53; 194363 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4; 194364 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; XRCC5; 235000 HEMIHYPERPLASIA, ISOLATED; IH; 248600 MAPLE SYRUP URINE DISEASE; 261100 MEGALOBLASTIC ANEMIA 1; MGA1; 300338 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-2; CNGA2; 306700 HEMOPHILIA A; 600533 VANG-LIKE 2; VANGL2; 600560 SHC TRANSFORMING PROTEIN; SHC1; 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1; 601263 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2; 601441 DIACYLGLYCEROL KINASE, ZETA, 104-KD: DGKZ; 602178 CHONDROADHERIN; CHAD; 602358 HYPOCRETIN; HCRT; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603718 CLAUDIN 1; CLDN1; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 604966 PROTOCADHERIN-ALPHA GENE CLUSTER; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605812 DEAD/H BOX 19; DDX19; 606478 PROTECTION OF TELOMERES 1; POT1; 607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1; 608215 LIM HOMEOBOX GENE 6; LHX6; 608389 BRANCHIOOTIC SYNDROME 3; BOS3; 608662 TRANSMEMBRANE PROTEIN 16E; TMEM16E; 609042 OPSIN 5; OPN5; 609377 ACD, MOUSE, HOMOLOG OF; ACD; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; 610988 LEPROSY, SUSCEPTIBILITY TO, 4

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OMIM Update List for May, 2007

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