OMIM Update List for August, 2009

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Nucleotide

Protein

Genome

OMIM Update List for August, 2009

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August 31, 2009
New Entries:: 300793 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A2; CT45A2; 300794 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A3; CT45A3; 300795 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A4; CT45A4; 300796 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A5; CT45A5; 300797 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A6; CT45A6; 612988 TRANSMEMBRANE PROTEIN 126A; TMEM126A; 612989 OPTIC ATROPHY 7; OPA7; 612990 ADDITIONAL SEX COMBS-LIKE 1; ASXL1; 612991 ADDITIONAL SEX COMBS-LIKE 2; ASXL2; 612992 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 3; NBPF3; 612993 FILAMIN A-INTERACTING PROTEIN 1-LIKE; FILIP1L; 612994 RAS-ASSOCIATED PROTEIN 28; RAB28
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; 138244 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 2; GRIK2; 138245 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 1; GRIK1; 138246 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 4; GRIA4; 162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA; 165500 OPTIC ATROPHY 1; OPA1; 175780 PORENCEPHALY, FAMILIAL; 180620 TRANSFER RNA METHIONINE 2; TRNAM2; 180640 TRANSFER RNA GLUTAMIC ACID; TRNAE1; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 189880 TRANSFER RNA ASPARAGINE 1; TRNAN1; 189910 TRANSFER RNA SERINE 2; TRNAS2; 189911 TRANSFER RNA GLYCINE 1; TRNAG1; 189912 TRANSFER RNA PROLINE 3; TRNAP3; 189913 TRANSFER RNA THREONINE 1; TRNAT1; 189919 TRANSFER RNA GLUTAMINE 1; TRNAQ1; 189923 TRANSFER RNA GLUTAMINE 2; TRNAQ2; 189931 TRANSFER RNA PROLINE 2; TRNAP2; 189932 TRANSFER RNA LEUCINE 1; TRNAL1; 189933 TRANSFER RNA THREONINE 2; TRNAT2; 210900 BLOOM SYNDROME; BLM; 218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,; 300088 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR; 300180 ARYLSULFATASE E; ARSE; 300460 PROTOCADHERIN 19; PCDH19; 300531 SPROUTY, DROSOPHILA, HOMOLOG OF, 3; SPRY3; 300648 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A1; CT45A1; 300790 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER B1; CT47B1; 313470 CD99 ANTIGEN, X CHROMOSOME; CD99; 450000 CD99 ANTIGEN, Y CHROMOSOME; 545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF; 590075 TRANSFER RNA, MITOCHONDRIAL, PROLINE; MTTP; 600498 MOVED TO 313470; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601431 TRANSFER RNA ALANINE 1; TRNAA1; 601432 TRANSFER RNA ARGININE 3; TRNAR3; 601433 TRANSFER RNA METHIONINE 1; TRNAM1; 602711 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 3; APBB3; 604061 SEPTIN 9; SEPT9; 605435 PROTEIN KINASE D1; PRKD1; 605835 TRANSMEMBRANE PROTEIN 2; TMEM2; 606171 TRANSFER RNA SERINE 1; TRNAS1; 606172 TRANSFER RNA SERINE 3; TRNAS3; 606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7; 607275 HOP HOMEOBOX; HOPX; 607307 FILAMIN A-INTERACTING PROTEIN 1; FILIP1; 607730 DNA DAMAGE-INDUCIBLE TRANSCRIPT 4-LIKE; DDIT4L; 608187 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 8; MCM8; 608438 TOUSLED-LIKE KINASE 1; TLK1; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608790 ADA2, YEAST, HOMOLOG OF, BETA; 610406 TRANSFER RNA ARGININE 1; TRNAR1; 610407 TRANSFER RNA GLYCINE 2; TRNAG2; 612367 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; 612722 ELONGATION PROTEIN 3, S. CEREVISIAE, HOMOLOG OF; ELP3; 612957 VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B6QTL1; 612989 OPTIC ATROPHY 7; OPA7; Clinical Synopsis for 607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP

August 28, 2009
New Entries:: 612953 DYSTONIA-PARKINSONISM, ADULT-ONSET; 612954 MYOPATHY, MYOFIBRILLAR, BAG3-RELATED
Changed Entries:: 104219 ALPHA-1D-ADRENERGIC RECEPTOR; ADRA1D; 108410 ASPARAGINYL-tRNA SYNTHETASE; NARS; 108729 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, GAMMA SUBUNIT; 109660 BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 125643 DESMOCOLLIN 1; DSC1; 125650 MOVED TO 606418; 136425 FOLATE RECEPTOR 2, FETAL; FOLR2; 136840 FULL-LENGTH RETROVIRAL SEQUENCE 1; FRV1; 136870 FULL-LENGTH RETROVIRAL SEQUENCE 2; FRV2; 136890 FULL-LENGTH RETROVIRAL SEQUENCE 3; FRV3; 142390 HEPATIC PROTEIN; HEP10; 173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1; 174750 POLYKARYOCYTOSIS INDUCER; FUSE; 176770 PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF; PROA; 179555 RAS SUPPRESSOR PROTEIN 1; RSU1; 190940 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 1; ERVT1; 190950 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 2; ERVT2; 190960 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 3; ERVT3; 190970 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 4; ERVT4; 190980 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 5; ERVT5; 270100 HETEROTAXY, VISCERAL, 5, AUTOSOMAL; 300113 X-LINKED B CELL SURFACE ANTIGEN, MOUSE, HOMOLOG-LIKE 1; XLRL; 300606 HYPODONTIA, X-LINKED; 300755 AGAMMAGLOBULINEMIA, X-LINKED; XLA; 600200 MOVED TO 133440; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600417 5-PRIME-@NUCLEOTIDASE, CYTOSOLIC II; NT5C2; 601069 ZINC FINGER PROTEIN 239; ZNF239; 601265 NODAL, MOUSE, HOMOLOG OF; NODAL; 601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12; 601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; 601689 TAF4B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 601796 TAF4 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 602207 RAS-ASSOCIATED PROTEIN RAB18; RAB18; 603187 CENTRIN 1; CETN1; 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6; 603754 KINESIN FAMILY MEMBER 3B; KIF3B; 603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2; 603883 BCL2-ASSOCIATED ATHANOGENE 3; BAG3; 604031 STEAROYL-CoA DESATURASE; SCD; 604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; 604908 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 1; PPP4R1; 604993 PRECURSOR mRNA-PROCESSING FACTOR 18, S. CEREVISIAE, HOMOLOG OF; PRPF18; 605118 SUPPRESSOR OF CYTOKINE SIGNALING 4; SOCS4; 605120 GROWTH/DIFFERENTIATION FACTOR 2; GDF2; 605372 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A3; HNRNPA3; 605482 GLUTATHIONE S-TRANSFERASE, OMEGA-1; GSTO1; 605516 CADHERIN 23; CDH23; 605703 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN A; VAPA; 605796 TUDOR DOMAIN-CONTAINING PROTEIN 1; TDRD1; 605937 SORTING NEXIN 5; SNX5; 606115 RIBONUCLEASE P/MRP, 30-KD SUBUNIT; RPP30; 606116 RIBONUCLEASE P/MRP, 38-KD SUBUNIT; RPP38; 606343 POLYMERASE, DNA, LAMBDA; POLL; 606418 24-@DEHYDROCHOLESTEROL REDUCTASE; DHCR24; 606421 ENGULFMENT AND CELL MOTILITY GENE 2; ELMO2; 606503 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 2; SUV39H2; 606577 SRC-LIKE ADAPTOR 2; SLA2; 606607 PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7; 606641 BODY MASS INDEX; BMI; 606701 DORSAL ROOT GANGLIA HOMEOBOX; DRGX; 606726 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER; 606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3; 606930 THO COMPLEX, SUBUNIT 1; THOC1; 607106 MINOR HISTOCOMPATIBILITY 13; HM13; 607162 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 5; ST8SIA5; 607451 GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 2; GMEB2; 607589 SERUM/GLUCOCORTICOID-REGULATED KINASE 2; SGK2; 607662 SPERMATOGENESIS-ASSOCIATED PROTEIN 2; SPATA2; 608200 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1; CDK5RAP1; 610945 MICRO RNA 296; MIRN296; 612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2

August 27, 2009
New Entries:: 300792 MICRO RNA 106A; MIR106A; 612980 IMP3, S. CEREVISIAE, HOMOLOG OF; IMP3; 612981 IMP4, S. CEREVISIAE, HOMOLOG OF; IMP4; 612983 MICRO RNA 106B; MIR106B; 612984 MICRO RNA 93; MIR93; 612985 IROQUOIS HOMEOBOX PROTEIN 3; IRX3; 612986 E1A-LIKE INHIBITOR OF DIFFERENTIATION 3; EID3; 612987 NON-SMC ELEMENT 4, S. CEREVISIAE, HOMOLOG OF, A; NSMCE4A
Changed Entries:: 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E; 159540 LEUKEMIA-INHIBITORY FACTOR; LIF; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 192070 REMOVED FROM DATABASE; 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX; 600200 MOVED TO 133440; 600366 ISL LIM HOMEOBOX 1; ISL1; 600592 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 7; MCM7; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601621 T-BOX 3; TBX3; 602234 CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9; 602253 KRUPPEL-LIKE FACTOR 4; KLF4; 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6; 603754 KINESIN FAMILY MEMBER 3B; KIF3B; 604167 CCCTC-BINDING FACTOR; CTCF; 605374 MYCN, OPPOSITE STRAND; MYCNOS; 607153 INTEGRIN, BETA-1, BINDING PROTEIN OF, 1; ITGB1BP1; 607701 KELCH AND BTB/POZ DOMAINS-CONTAINING PROTEIN 10; KBTBD10; 607880 EXOCYST COMPLEX COMPONENT 6B; EXOC6B; 609113 TELOMERE LENGTH, MEAN LEUKOCYTE; 609641 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M; 612150 MICRO RNA 25; MIR25; 612983 MICRO RNA 106B; MIR106B; 612984 MICRO RNA 93; MIR93; Clinical Synopsis for 192070 REMOVED FROM DATABASE; Clinical Synopsis for 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1

August 26, 2009
New Entries:: 612978 PRECEREBELLIN 3; CBLN3; 612979 SYS1 GOLGI-LOCALIZED INTEGRAL MEMBRANE PROTEIN, S. CEREVISIAE, HOMOLOG; 612982 MICRO RNA 210; MIR210
Changed Entries:: 113995 COMPLEMENT COMPONENT 5 RECEPTOR 1; C5R1; 114170 CALPAIN, SMALL SUBUNIT 1; CAPNS1; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 132880 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 6; NR2F6; 133170 ERYTHROPOIETIN; EPO; 135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; 136537 FORMYL PEPTIDE RECEPTOR 1; FPR1; 136538 FORMYL PEPTIDE RECEPTOR 2; FPR2; 136539 FORMYL PEPTIDE RECEPTOR 3; FPR3; 147890 MYXOVIRUS RESISTANCE 2, MOUSE, HOMOLOG OF; MX2; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 160793 MYOSIN-BINDING PROTEIN C, FAST TYPE; MYBPC2; 164176 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 2; POU2F2; 165090 RELATED RAS VIRAL ONCOGENE HOMOLOG; RRAS; 165250 GLI-KRUPPEL FAMILY MEMBER HKR1; HKR1; 165260 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 22; ZSCAN22; 181500 SCHIZOPHRENIA; SCZD; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 227650 FANCONI ANEMIA; FA; 231090 HYDATIDIFORM MOLE; 248200 STARGARDT DISEASE 1; STGD1; 270100 HETEROTAXY, VISCERAL, 5, AUTOSOMAL; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 400012 VARIABLY CHARGED, Y CHROMOSOME; VCY; 400015 XK-RELATED PROTEIN ON Y CHROMOSOME; 400017 THYMOSIN, BETA-4, Y CHROMOSOME; TMSB4Y; 400019 PTPBL-RELATED GENE ON Y; PRY; 600432 PRECEREBELLIN 1; CBLN1; 600433 PRECEREBELLIN 2; CBLN2; 600487 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 4; PCSK4; 600565 NEUREXIN 1; NRXN1; 601119 CLpP, E. COLI, HOMOLOG OF; CLPP; 601265 NODAL, MOUSE, HOMOLOG OF; NODAL; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL; 602615 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN; 603144 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING; 603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2; 603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3; 603314 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 5; SLC27A5; 603535 ADAPTOR-RELATED PROTEIN COMPLEX 1, MU-1 SUBUNIT; AP1M1; 603602 PHOSPHOLIPASE A2, GROUP IVC; PLA2G4C; 603978 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 12; ZSCAN12; 603980 ZINC FINGER PROTEIN 98; ZNF98; 603981 ZINC FINGER PROTEIN 99; ZNF99; 603996 ZINC FINGER PROTEIN 114; ZNF114; 604214 KREV INTERACTION TRAPPED 1; KRIT1; 604530 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 1; NCR1; 604668 ZINC FINGER PROTEIN 264; ZNF264; 604751 ZINC FINGER PROTEIN 266; ZNF266; 604803 DOPEY FAMILY MEMBER 2; DOPEY2; 604925 RAB ACCEPTOR 1; RABAC1; 604937 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 604953 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC; 604954 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC; 604996 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 3; FXYD3; 605043 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 7; CRSP7; 605118 SUPPRESSOR OF CYTOKINE SIGNALING 4; SOCS4; 605305 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605418 DICKKOPF-LIKE 1; DKKL1; 605451 p21-ACTIVATED KINASE 4; PAK4; 605467 ZINC FINGER PROTEIN 274; ZNF274; 605595 SPLICING FACTOR 3A, SUBUNIT 1; SF3A1; 605717 INDUCIBLE T-CELL COSTIMULATOR LIGAND; ICOSLG; 605794 MOV10-LIKE 1; 605800 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U-LIKE 1; HNRNPUL1; 606004 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN; 606021 PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA; PRAME; 606084 CDC42 EFFECTOR PROTEIN 1; CDC42EP1; 606114 PROCESSING OF PRECURSOR 4, S. CEREVISIAE, HOMOLOG OF; POP4; 606398 ACTIVATING TRANSCRIPTION FACTOR 5; ATF5; 606424 EGL9, C. ELEGANS, HOMOLOG OF, 2; EGLN2; 606481 PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE, A; PIB5PA; 606684 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 7; FXYD7; 606700 MIDNOLIN, MOUSE, HOMOLOG OF; MIDN; 606701 DORSAL ROOT GANGLIA HOMEOBOX; DRGX; 606876 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, BETA; PITPNB; 606942 COATOMER PROTEIN COMPLEX, SUBUNIT EPSILON; COPE; 607074 PROTEIN KINASE D2; 607092 SPHINGOSINE KINASE 2; SPHK2; 607209 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 10; CARD10; 607243 ADAPTOR-RELATED PROTEIN COMPLEX 4, SIGMA-1 SUBUNIT; AP4S1; 607244 ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT; AP4E1; 607245 ADAPTOR-RELATED PROTEIN COMPLEX 4, BETA-1 SUBUNIT; AP4B1; 607284 LSM4 PROTEIN; LSM4; 607287 LSM7 PROTEIN; LSM7; 607419 GEM-ASSOCIATED PROTEIN 7; GEMIN7; 607445 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E NUCLEAR IMPORT FACTOR; 607769 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4;; 607770 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 5;; 607777 SIN3, YEAST, HOMOLOG OF, B; SIN3B; 607874 ZINC FINGER PROTEIN 444; ZNF444; 607929 CCM2 GENE; CCM2; 607962 MICRO RNA 23A; MIRN23A; 609118 PROGRAMMED CELL DEATH 10; PDCD10; 609661 NLR FAMILY, PYRIN DOMAIN-CONTAINING 7; NLRP7

August 25, 2009
New Entries:: 612977 DCN1 DOMAIN-CONTAINING PROTEIN 4; DCUN1D4
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 118490 CHOLINE ACETYLTRANSFERASE; CHAT; 126141 DIPEPTIDYL PEPTIDASE VI; DPP6; 135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; 142989 HOMEOBOX D13; HOXD13; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 163890 SYNUCLEIN, ALPHA; SNCA; 179035 PYRROLINE-5-CARBOXYLATE REDUCTASE 1; PYCR1; 180300 RHEUMATOID ARTHRITIS; RA; 185620 SURFEIT 1; SURF1; 186000 SYNPOLYDACTYLY 1; SPD1; 211180 BOWEN-CONRADI SYNDROME; BWCNS; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2; 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS; 225300 SPLIT-HAND/FOOT MALFORMATION 6; SHFM6; 235600 MOVED TO 400045; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 265380 ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS;; 267500 RETICULAR DYSGENESIS; 300294 MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 2; MBTPS2; 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; 306100 MOVED TO 400044; 308205 ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME; 400014 EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, Y-LINKED; EIF1AY; 400016 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 1; CDY1; 400018 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 2; CDY2; 400041 PTPBL-RELATED GENE ON Y, 2; PRY2; 400044 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED; 400045 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE; 426000 LYSINE-SPECIFIC DEMETHYLASE 5D; KDM5D; 516050 CYTOCHROME c OXIDASE III; MTCO3; 601665 OBESITY; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 601836 KINESIN-ASSOCIATED PROTEIN 3; KIFAP3; 602040 CELL ADHESION MOLECULE, NEURAL, 2; NCAM2; 602059 IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR; 602062 NERVE INJURY-INDUCED PROTEIN 1; NINJ1; 602125 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10; COX10; 602296 ADAPTOR-RELATED PROTEIN COMPLEX 4, MU-1 SUBUNIT; AP4M1; 602307 WW DOMAIN-CONTAINING PROTEIN 1; WWP1; 602373 CALPONIN 2; CNN2; 602414 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 1; APBA1; 602518 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 4; LGALS4; 602884 GDP-MANNOSE 4,6-DEHYDRATASE; GMDS; 602988 PROTOCADHERIN 7; PCDH7; 603646 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15; COX15; 603977 ZINC FINGER PROTEIN 208; ZNF208; 605386 MICRO RNA LET7A1; MIRNLET7A1; 605905 DCN1 DOMAIN-CONTAINING PROTEIN 1; DCUN1D1; 605951 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3; 605961 PLEIOTROPIC REGULATOR 1; PLRG1; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 606754 SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1; SAMHD1; 606760 MOVED TO 603977; 608025 NEUROBLASTOMA-AMPLIFIED SEQUENCE; NBAS; 608095 SODIUM CHANNEL MODIFIER 1; SCNM1; 608180 SYNPOLYDACTYLY 2; SPD2; 608265 DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39; 610838 AUTISM, SUSCEPTIBILITY TO, 12; AUTS12; 610908 AUTISM, SUSCEPTIBILITY TO, 13; AUTS13; 612432 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 3; WIPF3; 612899 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8; 612921 THREE M SYNDROME 2; 3M2; 612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3; 612937 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O; 612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY; 612940 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B; 612943 RETINITIS PIGMENTOSA 42; RP42; 612949 HYPOMYELINATION, GLOBAL CEREBRAL; 612950 PSORIASIS SUSCEPTIBILITY 12; PSORS12; 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY; 612952 AICARDI-GOUTIERES SYNDROME 5; AGS5; 612955 LONG QT SYNDROME 12; LQT12; 612956 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2; 612957 VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B6QTL1; 612961 MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3; 612964 PREMATURE OVARIAN FAILURE 7; POF7; 612965 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, NR5A1-RELATED; 612967 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 15; BMIQ15; 612968 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3; CATC3; 612969 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 7; TIGD7; 612975 SHORT SLEEPER; 612976 AGE-RELATED HEARING IMPAIRMENT 2; ARHI2

August 24, 2009
Changed Entries:: 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; 136538 FORMYL PEPTIDE RECEPTOR 2; FPR2; 136539 FORMYL PEPTIDE RECEPTOR 3; FPR3; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA; 176946 EPHRIN RECEPTOR EphA2; EPHA2; 179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2; 209850 AUTISM; 300032 ATR-X GENE; ATRX; 300188 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE,; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; 301090 MOVED TO 273395; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST; 600648 MOVED TO 113800; 602449 A-KINASE ANCHOR PROTEIN 1; AKAP1; 602544 PARKIN; PARK2; 604599 EUCHROMATIC HISTONE-LYSINE N-METHYLTRANSFERASE 2; EHMT2; 605317 FORKHEAD BOX P2; FOXP2; 606676 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 2;; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607623 NPC1 GENE; NPC1; 609666 TWO-PORE SEGMENT CHANNEL 1; TPCN1; 611162 MALARIA, SUSCEPTIBILITY TO; 611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G; 612163 TWO-PORE SEGMENT CHANNEL 2; TPCN2; Clinical Synopsis for 301090 MOVED TO 273395; Clinical Synopsis for 600648 MOVED TO 113800

August 21, 2009
New Entries:: 612975 SHORT SLEEPER; 612976 AGE-RELATED HEARING IMPAIRMENT 2; ARHI2; Clinical Synopsis for 612917 GIACHETI SYNDROME
Changed Entries:: 131222 THYMIDINE PHOSPHORYLASE: TYMP; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1; 189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB; 191730 URIDINE PHOSPHORYLASE 1; UPP1; 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY; 256000 LEIGH SYNDROME; LS; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1; 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT; 601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3; 602446 GLYPICAN 5; GPC5; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 603122 DEDICATOR OF CYTOKINESIS 2; DOCK2; 604101 GLUTAMATE RECEPTOR, METABOTROPIC, 7; GRM7; 604798 HOMER, DROSOPHILA, HOMOLOG OF, 1; HOMER1; 606200 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, MEMBER E41; BHLHE41; 606951 INTERFERON INDUCED WITH HELICASE C DOMAIN PROTEIN 1; IFIH1; 607462 ATROPHIN 1; ATN1; 607790 TET ONCOGENE FAMILY, MEMBER 1; TET1; 610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19; 612917 GIACHETI SYNDROME; 612958 TRANSLATIONAL ACTIVATOR OF MITOCHONDRIALLY ENCODED CYTOCHROME c; 612975 SHORT SLEEPER; 612976 AGE-RELATED HEARING IMPAIRMENT 2; ARHI2; Clinical Synopsis for 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; Clinical Synopsis for 612917 GIACHETI SYNDROME

August 20, 2009
New Entries:: 400044 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED; 400045 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE; 612970 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 23; NBPF23; 612971 PDZ DOMAIN-CONTAINING 7; PDZD7; 612972 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 1; TIGD1; 612973 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 2; TIGD2; 612974 DEP DOMAIN-CONTAINING PROTEIN 6; DEPDC6
Changed Entries:: 134370 COMPLEMENT FACTOR H; CFH; 143150 MOVED TO 426000; 154230 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH 9p24.3 DELETION; 158170 CHROMOSOME 9p DELETION SYNDROME; 158330 MULLERIAN APLASIA AND HYPERANDROGENISM; 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 233420 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, DHH-RELATED; 235600 MOVED TO 400045; 246300 LEPROSY, SUSCEPTIBILITY TO; 253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD; 278850 46,XX GONADAL DYSGENESIS, PARTIAL OR COMPLETE, AUTOSOMAL; 306100 MOVED TO 400044; 306970 MOVED TO 426000; 400045 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE; 426000 LYSINE-SPECIFIC DEMETHYLASE 5D; KDM5D; 480000 SEX-DETERMINING REGION Y; SRY; 600242 CHEMOKINE, CC MOTIF, RECEPTOR 7; CCR7; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 602227 CHEMOKINE, CC MOTIF, LIGAND 19; CCL19; 603445 KH-TYPE SPLICING REGULATORY PROTEIN; KHSRP; 605423 DESERT HEDGEHOG; DHH; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 605833 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2; 605906 LIM DOMAIN-BINDING 3; LDB3; 606758 DUAL OXIDASE 1; DUOX1; 606759 DUAL OXIDASE 2; DUOX2; 607042 CLN3 GENE; CLN3; 607080 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY; 607353 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 3; RHOBTB3; 607440 FUKUTIN; FKTN; 607566 EPM2A GENE; EPM2A; 607670 SERINE/THREONINE PROTEIN KINASE 33; STK33; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO; 608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1; 610134 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE; 612969 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 7; TIGD7

August 19, 2009
New Entries:: 612968 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3; CATC3; 612969 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 7; TIGD7
Changed Entries:: 101850 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE III; PPKP3; 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 109691 BETA-3-ADRENERGIC RECEPTOR; ADRB3; 113705 BREAST CANCER 1 GENE; BRCA1; 114110 S100 CALCIUM-BINDING PROTEIN A6; S100A6; 114210 S100 CALCIUM-BINDING PROTEIN A4; S100A4; 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 140571 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 1; HSP90AA1; 143170 MALE-ENHANCED ANTIGEN 1; MEA1; 150400 TOOTH AGENESIS, SELECTIVE, 4; STHAG4; 152430 LONGEVITY 1; 158030 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AJ9; 158040 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY T87; 166220 OSTEOGENESIS IMPERFECTA, TYPE IV; 176940 S100 CALCIUM-BINDING PROTEIN A1; S100A1; 176993 S100 CALCIUM-BINDING PROTEIN A2; S100A2; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 189500 WITKOP SYNDROME; 190980 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 5; ERVT5; 202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC; 206780 ANODONTIA OF PERMANENT DENTITION; 211410 BREAST CANCER, DUCTAL, 1; BRCD1; 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE; 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS; 233420 GONADAL DYSGENESIS, XY TYPE; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1; 257980 ODONTOONYCHODERMAL DYSPLASIA; OODD; 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY; 270970 SPHEROCYTOSIS, TYPE 3; SPH3; 300475 CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME; 300791 NIK-RELATED KINASE; NRK; 313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2; 426000 LYSINE-SPECIFIC DEMETHYLASE 5D; KDM5D; 600085 PROTEIN-TYROSINE KINASE SYK; SYK; 601054 PLEXIN A2; PLXNA2; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 602636 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 8; PPP1R8; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603702 RIBOSOMAL PROTEIN S27; RPS27; 603800 MEDIATOR COMPLEX SUBUNIT 21; MED21; 604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8; 604193 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 3; SLC27A3; 604424 HOMEODOMAIN-INTERACTING PROTEIN KINASE 3; HIPK3; 604984 SERINE/THREONINE PROTEIN KINASE 24; STK24; 605032 COMPLEXIN 1; CPLX1; 605033 COMPLEXIN 2; CPLX2; 605079 SAL-LIKE 3; SALL3; 605087 PHOSPHATIDYLINOSITOL GLYCAN, CLASS K; PIGK; 605182 RAS p21 PROTEIN ACTIVATOR 3; 605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4; 605477 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 7; ARHGEF7; 605593 SPLICING FACTOR 3B, SUBUNIT 4; SF3B4; 605667 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 1; RGL1; 605733 PRELI DOMAIN-CONTAINING PROTEIN 1; PRELID1; 605793 RING FINGER PROTEIN 17; RNF17; 605868 ATPase, CLASS VI, TYPE 11A; ATP11A; 605960 EXOSOME COMPONENT 10; EXOSC10; 605975 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 1; SRRM1; 606019 EXOSONE COMPONENT 8; EXOSC8; 606076 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 3; PIK3R3; 606233 PROKINETICIN 1; PROK1; 606268 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A; 606460 LONGEVITY 2; 606494 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3; ST3GAL3; 606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5; 606903 PYGOPUS, DROSOPHILA, HOMOLOG OF, 2; 606975 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 3; COG3; 606977 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6; 607080 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY; 607325 DEDICATOR OF CYTOKINESIS 9; DOCK9; 607529 SERYL-tRNA SYNTHETASE; SARS; 607615 NUCLEOPORIN-LIKE 1; NUPL1; 607718 SYNAPTOTAGMIN 6; SYT6; 607771 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 6;; 607797 SPLICING FACTOR, 38-KD; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO; 608025 NEUROBLASTOMA-AMPLIFIED SEQUENCE; NBAS; 608098 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES; 608160 SRY-BOX 9; SOX9; 608418 SEPTIN 8; SEPT8; 608441 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1; 608444 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 5; MLL5; 608773 TUBULIN POLYMERIZATION-PROMOTING PROTEIN; TPPP; 608833 REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1; 609513 NEUROPEPTIDE S; 611140 TELOMERE MAINTENANCE 2, S. CEREVISIAE, HOMOLOG OF; TELO2; 611297 ODD-SKIPPED-RELATED 2; OSR2; 612881 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION; 612888 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8B; LRRC8B; 612889 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8C; LRRC8C; 612890 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8D; LRRC8D; 612891 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8E; LRRC8E; 612892 STATURE QUANTITATIVE TRAIT LOCUS 18; STQTL18; 612893 STATURE QUANTITATIVE TRAIT LOCUS 19; STQTL19; 612894 STATURE QUANTITATIVE TRAIT LOCUS 20; STQTL20; 612895 NUCLEOREDOXIN; NXN; 612896 RAD52 MOTIF-CONTAINING PROTEIN 1; RDM1; 612897 SEPTIN 1; SEPT1; 612898 COENZYME Q4, S. CEREVISIAE, HOMOLOG OF; COQ4; 612901 TUBULIN, BETA-1; TUBB1; 612902 LIPOCALIN 8; LCN8; 612903 LIPOCALIN 9; LCN9; 612904 LIPOCALIN 10; LCN10; 612905 LIPOCALIN 12; LCN12; 612906 RAS-ASSOCIATED PROTEIN RAB32; RAB32; 612907 tRNA NUCLEOTIDYLTRANSFERASE, CCA-ADDING, 1; TRNT1; 612908 KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2; 612909 RAS-ASSOCIATED PROTEIN RAB6C; RAB6C; 612910 PHD FINGER PROTEIN 23; PHF23; 612911 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 3; NDUFAF3; 612912 TRANSMEMBRANE PROTEIN 97; TMEM97; 612914 MEDIATOR COMPLEX SUBUNIT 29; MED29; 612915 MEDIATOR COMPLEX SUBUNIT 20; MED20; 612919 LanC-LIKE 2; LANCL2; 612920 CHROMOSOME 21 OPEN READING FRAME 29; C21ORF29; 612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2; 612927 AVL9, S. CEREVISIAE, HOMOLOG OF; AVL9; 612928 ISOCHORISMATASE DOMAIN-CONTAINING 2; ISOC2; 612929 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3; 612930 PHOSPHOTYROSINE INTERACTION DOMAIN-CONTAINING 1; PID1; 612931 PHOSPHOGLYCERATE MUTASE 2; PGAM2; 612932 GLYCOGEN STORAGE DISEASE XIII; GSD13; 612933 GLYCOGEN STORAGE DISEASE XI; GSD11; 612934 GLYCOGEN STORAGE DISEASE XIV; GSD14; 612935 MYOSIN PHOSPHATASE RHO-INTERACTING PROTEIN; MPRIP; 612939 HEAT-SHOCK 70-KD PROTEIN-BINDING PROTEIN 1; HSPBP1; 612941 PRECURSOR mRNA-PROCESSING FACTOR 40, S. CEREVISIAE, HOMOLOG OF, A;; 612942 RAS-ASSOCIATED PROTEIN RAB25; RAB25; 612944 RIBONUCLEASE T2; RNASET2

August 18, 2009
New Entries:: 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY; 612966 RAS-ASSOCIATED PROTEIN RAB22A; RAB22A; 612967 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 15; BMIQ15
Changed Entries:: 109675 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GAL1; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 147720 INTERLEUKIN 1-BETA; IL1B; 151300 LEUCYL-CYSTINYL AMINOPEPTIDASE; LNPEP; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5; 158330 MULLERIAN APLASIA AND HYPERANDROGENISM; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 164910 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG; REL; 176960 PROTEIN KINASE C, ALPHA; PRKCA; 180202 LYSINE-SPECIFIC DEMETHYLASE 5A; KDM5A; 180300 RHEUMATOID ARTHRITIS; RA; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 191305 TYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK; 194070 WILMS TUMOR 1; WT1; 194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION; 273300 TESTICULAR TUMORS; 600744 T-CELL TRANSCRIPTION FACTOR EB; TFEB; 600807 ASTHMA, SUSCEPTIBILITY TO; 601021 NUCLEOPORIN, 98-KD; NUP98; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 604105 SYNAPTONEMAL COMPLEX PROTEIN 2; SYCP2; 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4; 604282 PLEXIN D1; PLXND1; 605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18; 606416 NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; NLRP3; 606636 NLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1; 606641 BODY MASS INDEX; BMI; 607690 SAR1, S. CEREVISIAE, HOMOLOG B; SAR1B; 607691 SAR1, S. CEREVISIAE, HOMOLOG OF, A; SAR1A; 608166 SEMAPHORIN 3E; SEMA3E; 608232 LEUKEMIA, CHRONIC MYELOID; CML; 611064 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5; 612415 RAS-ASSOCIATED PROTEIN 24; RAB24; 612565 RAS-ASSOCIATED PROTEIN RAB1B; RAB1B; 612672 RAS-ASSOCIATED PROTEIN RAB10; RAB10; 612944 RIBONUCLEASE T2; RNASET2; 612965 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, NR5A1-RELATED; Clinical Synopsis for 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME

August 17, 2009
New Entries:: 612952 AICARDI-GOUTIERES SYNDROME 5; AGS5
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 109535 CD40 ANTIGEN; CD40; 118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1; 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 153420 CD58 MOLECULE; CD58; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 176982 PROTEIN KINASE C, ZETA FORM; PRKCZ; 182139 5-@HYDROXYTRYPTAMINE RECEPTOR 3A; HTR3A; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 186720 CD6 ANTIGEN; CD6; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 191318 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 2; U2AF2; 225300 SPLIT-HAND/FOOT MALFORMATION 6; SHFM6; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2; 600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 601565 INTERFERON REGULATORY FACTOR 8; IRF8; 601906 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10B; WNT10B; 601974 SPHINGOSINE 1-PHOSPHATE RECEPTOR 1; S1PR1; 602307 WW DOMAIN-CONTAINING PROTEIN 1; WWP1; 602308 WW DOMAIN-CONTAINING PROTEIN 2; WWP2; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 602822 HISTONE 1, H4A; HIST1H4A; 603273 TUMOR PROTEIN p63; TP63; 603721 UBIQUITIN-CONJUGATING ENZYME E2L 3; UBE2L3; 604282 PLEXIN D1; PLXND1; 604479 SIRTUIN 1; SIRT1; 604503 JUMONJI DOMAIN-CONTAINING PROTEIN 1C; JMJD1C; 604654 5-@HYDROXYTRYPTAMINE RECEPTOR 3B; HTR3B; 604914 JUMONJI DOMAIN-CONTAINING PROTEIN 6; JMJD6; 605120 GROWTH/DIFFERENTIATION FACTOR 2; GDF2; 606615 HYPOXIA-INDUCIBLE FACTOR 1-ALPHA INHIBITOR; HIF1AN; 606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3; 606754 SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1; SAMHD1; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; 609912 HISTONE ACETYLTRANSFERASE MYST1; MYST1; 610082 MYOSIN REGULATORY LIGHT CHAIN-INTERACTING PROTEIN; MYLIP; 611043 LIN28, C. ELEGANS, HOMOLOG OF; LIN28; 611044 LIN28, C. ELEGANS, HOMOLOG OF, B; LIN28B; 612268 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 5; TTLL5; 612434 CYSTEINE-RICH SECRETORY PROTEIN, LCCL DOMAIN-CONTAINING, 2; CRISPLD2; 612772 DUAL OXIDASE MATURATION FACTOR 2; DUOXA2; 612839 TET ONCOGENE FAMILY, MEMBER 2; TET2; 612851 NARCOLEPSY 5; NRCLP5; 612952 AICARDI-GOUTIERES SYNDROME 5; AGS5; 612964 PREMATURE OVARIAN FAILURE 7; POF7; Clinical Synopsis for 143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2; Clinical Synopsis for 193450 VULVOVAGINITIS, ALLERGIC SEMINAL

August 14, 2009
New Entries:: 612964 PREMATURE OVARIAN FAILURE 7; POF7; 612965 GONADAL DYSGENESIS, 46,XY, COMPLETE OR PARTIAL
Changed Entries:: 117650 CEREBROCOSTOMANDIBULAR SYNDROME; 129010 EARLY GROWTH RESPONSE 2; EGR2; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 233420 GONADAL DYSGENESIS, XY TYPE; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 606973 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1; 607199 INTERFERON REGULATORY FACTOR 6; IRF6; 611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G; 612722 ELONGATION PROTEIN 3, S. CEREVISIAE, HOMOLOG OF; ELP3; 612964 PREMATURE OVARIAN FAILURE 7; POF7; 612965 GONADAL DYSGENESIS, 46,XY, COMPLETE OR PARTIAL

August 13, 2009
New Entries:: 612961 MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3; 612962 DYNACTIN 5; DCTN5; 612963 DYNACTIN 6; DCTN6
Changed Entries:: 103020 ADENYLATE KINASE 2; AK2; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 115470 CAT EYE SYNDROME; CES; 116806 CATENIN, BETA-1; CTNNB1; 142445 NEUREGULIN 1; NRG1; 166210 OSTEOGENESIS IMPERFECTA, TYPE IIA; 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1; 188400 DIGEORGE SYNDROME; DGS; 192430 VELOCARDIOFACIAL SYNDROME; 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A; 300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4; 600921 FIBROBLAST GROWTH FACTOR 9; FGF9; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME COMPLEX 2; 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A; 604167 CCCTC-BINDING FACTOR; CTCF; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 605284 TSC1 GENE; TSC1; 606062 STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3; 607058 GAP JUNCTION PROTEIN, DELTA-2; GJD2; 607461 DYMECLIN; DYM; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6; 611548 PREMATURE OVARIAN FAILURE 5; POF5; 612476 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE; BATF

August 12, 2009
New Entries:: 612940 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B; 612957 VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B6QTL1; 612958 TRANSLATIONAL ACTIVATOR OF MITOCHONDRIALLY ENCODED CYTOCHROME c; 612959 EPITHELIAL SPLICING REGULATORY PROTEIN 1; ESRP1; 612960 EPITHELIAL SPLICING REGULATORY PROTEIN 2; ESRP2
Changed Entries:: 103020 ADENYLATE KINASE 2; AK2; 106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES; 142409 HEPATOCYTE GROWTH FACTOR; HGF; 148080 KERATIN 10; KRT10; 159300 MUSICAL PERFECT PITCH; 171760 ALKALINE PHOSPHATASE, LIVER; ALPL; 179035 PYRROLINE-5-CARBOXYLATE REDUCTASE 1; PYCR1; 182100 FUCOSYLTRANSFERASE 2; FUT2; 219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA;; 261670 GLYCOGEN STORAGE DISEASE X; GSD10; 267500 RETICULAR DYSGENESIS; 274600 PENDRED SYNDROME; PDS; 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9; 602864 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9B; WNT9B; 605995 KINESIN FAMILY MEMBER 1B; KIF1B; 608160 SRY-BOX 9; SOX9; 608265 DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39; 612542 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1; 612652 MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR; 612957 VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B6QTL1; 612959 EPITHELIAL SPLICING REGULATORY PROTEIN 1; ESRP1; Clinical Synopsis for 274900 THYROID DYSHORMONOGENESIS 5; TDH5

August 11, 2009
New Entries:: 612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3; 612937 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O; 612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY; 612956 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2
Changed Entries:: 126141 DIPEPTIDYL PEPTIDASE VI; DPP6; 185881 VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2; 186590 SYNTAXIN 1A; STX1A; 190685 DOWN SYNDROME; 191170 TUMOR PROTEIN p53; TP53; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2; 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25; 600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C; 602296 ADAPTOR-RELATED PROTEIN COMPLEX 4, MU-1 SUBUNIT; AP4M1; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 603513 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1; 603821 G PROTEIN-COUPLED RECEPTOR 41; GPR41; 603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1; 604297 SYNAPTOJANIN 1; SYNJ1; 605951 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3; 608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2; 609704 MICRO RNA 16-1; MIR16-1; 610512 SEC23, S. CEREVISIAE, HOMOLOG OF, B; SEC23B; 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO; 611599 MICRO RNA 206; MIR206; 611795 MICRO RNA 145; MIR145; 612117 MICRO RNA 143; MIR143; 612946 HADZISELIMOVIC SYNDROME; 612956 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2

August 10, 2009
New Entries:: 612955 LONG QT SYNDROME 12; LQT12; Clinical Synopsis for 607200 THYROID DYSHORMONOGENESIS 6; TDH6
Changed Entries:: 118445 CHOLECYSTOKININ B RECEPTOR; CCKBR; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 190090 V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENE; SRC; 192500 LONG QT SYNDROME 1; LQT1; 300294 MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 2; MBTPS2; 300451 ECTODYSPLASIN A; EDA; 300606 HYPODONTIA, X-LINKED; 308205 ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2; 601017 SYNTROPHIN, ALPHA-1; SNTA1; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 603550 EYES ABSENT 4; EYA4; 603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; 604592 T CELL IMMUNE REGULATOR 1; TCIRG1; 605820 NONAKA MYOPATHY; NM; 607200 THYROID DYSHORMONOGENESIS 6; TDH6; 608833 REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1; 609327 MICRO RNA 124-1; MIR124-1; Clinical Synopsis for 274400 THYROID DYSHORMONOGENESIS 1; TDH1; Clinical Synopsis for 274600 PENDRED SYNDROME; PDS; Clinical Synopsis for 274700 THYROID DYSHORMONOGENESIS 3; TDH3; Clinical Synopsis for 274800 THYROID DYSHORMONOGENESIS 4; TDH4; Clinical Synopsis for 274900 THYROID DYSHORMONOGENESIS 5; TDH5; Clinical Synopsis for 545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

August 7, 2009
Changed Entries:: 134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1; 600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2; 601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1; 602967 ZINC FINGER PROTEIN 217; ZNF217; 604611 RECQ PROTEIN-LIKE 2; RECQL2; Clinical Synopsis for 130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3

August 6, 2009
Changed Entries:: 135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; 166710 OSTEOPOROSIS; 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; 300647 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B; 606696 KATANIN, p60 SUBUNIT, A1; KATNA1; 607538 NDE1-LIKE 1; NDEL1; 612113 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10

August 5, 2009
New Entries:: 612946 HADZISELIMOVIC SYNDROME; 612947 MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL; 612948 STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,
Changed Entries:: 105550 FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE; FTDMND; 107741 APOLIPOPROTEIN E; APOE; 113800 EPIDERMOLYTIC HYPERKERATOSIS; EHK; 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3; 120131 COLLAGEN, TYPE IV, ALPHA-4; COL4A4; 152430 LONGEVITY 1; 159900 MYOCLONIC DYSTONIA; 162900 NEVUS, EPIDERMAL; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 165330 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3; 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS; 177650 EXFOLIATION SYNDROME; XFS; 188450 THYROGLOBULIN; TG; 214450 GRISCELLI SYNDROME, TYPE 1; GS1; 273390 TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES; 273395 TETRAAMELIA, AUTOSOMAL RECESSIVE; 274400 THYROID DYSHORMONOGENESIS 1; TDH1; 274500 THYROID DYSHORMONOGENESIS 2A; TDH2A; 274600 PENDRED SYNDROME; PDS; 274700 THYROID DYSHORMONOGENESIS 3; TDH3; 274800 THYROID DYSHORMONOGENESIS 4; TDH4; 274900 THYROID DYSHORMONOGENESIS 5; TDH5; 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA; 300680 PREGNANCY-UPREGULATED, NONUBIQUITOUS, CAM KINASE; PNCK; 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; 301090 MOVED TO 273395; 600648 MOVED TO 113800; 601293 RAS HOMOLOG ENRICHED IN BRAIN; RHEB; 601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5; 604928 WOLFRAM SYNDROME 2; WFS2; 606759 DUAL OXIDASE 2; DUOX2; 606765 THYROID PEROXIDASE; TPO; 607200 THYROID DYSHORMONOGENESIS 6; TDH6; 608187 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 8; MCM8; 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1; 609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A; 611007 MEX3, C. ELEGANS, HOMOLOG OF, A; MEX3A; 611008 MEX3, C. ELEGANS, HOMOLOG OF, B; MEX3B; 611507 CDGSH IRON SULFUR DOMAIN PROTEIN 2; CISD2; 612025 IODOTYROSINE DEIODINASE; IYD; 612219 EWING SARCOMA; ES; 612772 DUAL OXIDASE MATURATION FACTOR 2; DUOXA2; 612852 INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY

August 4, 2009
New Entries:: 612921 THREE M SYNDROME 2; 3M2; 612949 HYPOMYELINATION, GLOBAL CEREBRAL; 612950 PSORIASIS SUSCEPTIBILITY 12; PSORS12
Changed Entries:: 105550 FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE; FTDMND; 120131 COLLAGEN, TYPE IV, ALPHA-4; COL4A4; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 120355 MATRIX METALLOPROTEINASE 8; MMP8; 120830 COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA; C4BPA; 135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 161561 INTERLEUKIN 12B; IL12B; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 185900 SYNDACTYLY, TYPE I; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 265380 ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS;; 273750 THREE M SYNDROME 1; 3M1; 300128 UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON X CHROMOSOME;; 600568 NEUROLIGIN 1; NLGN1; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 601089 FORKHEAD BOX F1; FOXF1; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 602060 TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2; 602402 FORKHEAD BOX C2; FOXC2; 603252 FORKHEAD BOX L1; FOXL1; 603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1; 603667 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12;; 603681 OTOFERLIN; OTOF; 603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4; 604479 SIRTUIN 1; SIRT1; 605606 PSORIASIS SUSCEPTIBILITY 7; PSORS7; 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607629 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, A; APH1A; 607630 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, B; APH1B; 608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1; 608582 EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7; 608764 NICOTINAMIDE PHOSPHORIBOSYLTRANSFERASE; NAMPT; 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1; 609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1; 609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2; 610031 POLYMICROGYRIA, ASYMMETRIC; 610991 OBSCURIN-LIKE 1; OBSL1; 611259 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1; 611368 MAELSTROM, DROSOPHILA, HOMOLOG OF; MAEL; 611454 MOVED TO 105550; 611767 MICRO RNA 126; MIR126; 611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4; 612282 ZINC FINGER PROTEIN 804A; ZNF804A; 612361 SCHIZOPHRENIA 14; 612451 RING FINGER PROTEIN 114; RNF114; 612599 PSORIASIS SUSCEPTIBILITY 11; PSORS11; 612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO; 612911 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 3; NDUFAF3; Clinical Synopsis for 162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA; Clinical Synopsis for 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE; Clinical Synopsis for 273395 TETRA-AMELIA, AUTOSOMAL RECESSIVE

August 3, 2009
Changed Entries:: 150330 LAMIN A/C; LMNA; 155760 AGGRECAN; ACAN; 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 165040 RAS-ASSOCIATED PROTEIN RAB8A; RAB8A; 174763 POLYMERASE, DNA, GAMMA; POLG; 184745 KIT LIGAND; KITLG; 211180 BOWEN-CONRADI SYNDROME; BWCNS; 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP; 224900 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE; 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; 261540 PETERS-PLUS SYNDROME; 300377 DYSTROPHIN; DMD; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 604095 ECTODYSPLASIN A RECEPTOR; EDAR; 604939 PHOSPHOLIPASE A2 RECEPTOR 1; PLA2R1; 609544 CENTROSOMAL PROTEIN, 110-KD; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 610308 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL; 611531 ESSENTIAL FOR MITOTIC GROWTH 1, S. CEREVISIAE, HOMOLOG OF; EMG1; 612325 INTESTINAL CELL KINASE; ICK; 612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO

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OMIM Update List for August, 2009

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