OMIM Update List for October, 2007

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Nucleotide

Protein

Genome

OMIM Update List for October, 2007

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October 31, 2007
New Entries:: 611568 GOLGI-LOCALIZED SYNTAPHILIN-RELATED PROTEIN; 611569 CYTOSKELETON-ASSOCIATED PROTEIN 2; CKAP2; 611571 OTOSCLEROSIS 4; OTSC4; 611572 OTOSCLEROSIS 7; OTSC7; 611573 SPHINGOMYELIN SYNTHASE 1; SGMS1
Changed Entries:: 120900 COMPLEMENT COMPONENT 5; C5; 121009 CONNECTIVE TISSUE GROWTH FACTOR; CTGF; 139380 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1; GNB1; 153456 LYSYL OXIDASE-LIKE 1; LOXL1; 166800 OTOSCLEROSIS; OTSC1; 168810 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 2; PRB2; 168840 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 3; PRB3; 180300 RHEUMATOID ARTHRITIS; RA; 180989 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 1; PRB1; 180990 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 4; PRB4; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 189970 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE; 189974 MOVED TO 139380; 226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB; 300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A; 300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F; 300600 ALAND ISLAND EYE DISEASE; AIED; 601711 TNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1; 603790 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1; 603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2; 605132 TRANSDUCIN-LIKE ENHANCER OF SPLIT 4; TLE4; 605139 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 2; CCT2; 605140 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 7; CCT7; 605142 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 4; CCT4; 605913 BLEEDING DISORDER, EAST TEXAS TYPE; 606064 CD248 ANTIGEN; CD248; 608330 PSO4, S. CEREVISIAE, HOMOLOG OF; 608764 PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1; 608787 OTOSCLEROSIS 5; OTSC5; 611564 BTG3-ASSOCIATED NUCLEAR PROTEIN; BANP; Clinical Synopsis for 135150 BIRT-HOGG-DUBE SYNDROME; BHD; Clinical Synopsis for 177650 EXFOLIATION SYNDROME; XFS; Clinical Synopsis for 191100 TUBEROUS SCLEROSIS; TS

October 30, 2007
New Entries:: 300683 SEPTIN 6; SEPT6; 611564 BTG3-ASSOCIATED NUCLEAR PROTEIN; BANP; 611565 KIAA1109 GENE; KIAA1109; 611566 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 1-LIKE 1; PRPS1L1
Changed Entries:: 120700 COMPLEMENT COMPONENT 3; C3; 128990 EARLY GROWTH RESPONSE 1; EGR1; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10; 153456 LYSYL OXIDASE-LIKE 1; LOXL1; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 164017 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRPA1; 165500 OPTIC ATROPHY 1; OPA1; 177650 EXFOLIATION SYNDROME; XFS; 249100 FAMILIAL MEDITERRANEAN FEVER; FMF; 311850 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1; 311860 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE II; PRPS2; 601506 SEPTIN 2; SEPT2; 601665 OBESITY; 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603151 SEPTIN 7; SEPT7; 603756 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2; 604942 SYNTAPHILIN; SNPH; 606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 610093 MICROPHTHALMIA, ISOLATED 2; MCOP2; 610623 CATARACT, POSTERIOR POLAR, 4; CTPP4; Clinical Synopsis for 122500 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 6; SERPINA6

October 29, 2007
New Entries:: 611562 SEPTIN 12; SEPT12; 611563 SEPTIN 13; SEPT13
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN; 138570 GLYCOGEN SYNTHASE 1; GYS1; 151445 Fc FRAGMENT OF IgE, LOW AFFINITY II, RECEPTOR FOR; FCER2; 180200 RETINOBLASTOMA; RB1; 267800 RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE; 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; 300490 SH2 DOMAIN PROTEIN 1A; SH2D1A; 300560 PHD FINGER PROTEIN 8; PHF8; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 600165 NANOPHTHALMOS 1; NNO1; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10; 603023 IKAROS FAMILY ZINC FINGER 1; IKZF1; 603492 SLAM FAMILY, MEMBER 1; SLAMF1; 607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1; TICAM1; 607732 STERILE ALPHA AND TIR MOTIFS-CONTAINING PROTEIN 1; SARM1; 608091 JOUBERT SYNDROME 2; JBTS2; Clinical Synopsis for 608629 JOUBERT SYNDROME 3; JBTS3

October 26, 2007
New Entries:: 611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE; 611557 UROPLAKIN 1A; UPK1A; 611558 UROPLAKIN 2; UPK2; 611559 UROPLAKIN 3A; UPK3A
Changed Entries:: 116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2; 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1; 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),; 130130 ELASTASE 2; ELA2; 136538 FORMYL PEPTIDE RECEPTOR-LIKE 1; FPRL1; 138570 GLYCOGEN SYNTHASE 1; GYS1; 138571 GLYCOGEN SYNTHASE 2; GYS2; 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF; 163970 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE),; 164160 LEPTIN; LEP; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 171300 PHEOCHROMOCYTOMA; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A; 174761 POLYMERASE (DNA-DIRECTED), DELTA 1, CATALYTIC SUBUNIT; POLD1; 176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 214800 CHARGE SYNDROME; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 240600 GLYCOGEN STORAGE DISEASE 0, LIVER; 264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 601047 CAVEOLIN 1; CAV1; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602380 UROPLAKIN 1B; UPK1B; 602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7; 603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A; 603924 HYALURONAN-BINDING PROTEIN 2; HABP2; 604936 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 604937 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 604938 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC; 605580 INTERLEUKIN 23-ALPHA; IL23A; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609751 ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1; 609847 NOTUM, DROSOPHILA, HOMOLOG OF; NOTUM; 611359 ACTIVATING MOLECULE IN BECLIN 1-REGULATED AUTOPHAGY; 611361 UBIQUITIN-ACTIVATING ENZYME E1-LIKE 2; UBE1L2; 611458 GALACTOSIDASE, BETA-1; GLB1; 611557 UROPLAKIN 1A; UPK1A; Clinical Synopsis for 253200 MUCOPOLYSACCHARIDOSIS TYPE VI

October 25, 2007
New Entries:: 611552 NICOTINATE PHOSPHORIBOSYLTRANSFERASE DOMAIN-CONTAINING 1; NAPRT1; 611553 NOONAN SYNDROME 5; NS5; 611554 LEOPARD SYNDROME 2; 611555 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE,
Changed Entries:: 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; 113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1; 138945 GRANULIN; GRN; 142410 HNF1 HOMEOBOX A; HNF1A; 150310 LAMININ, BETA-3; LAMB3; 150330 LAMIN A/C; LMNA; 151100 LEOPARD SYNDROME 1; 163950 NOONAN SYNDROME 1; NS1; 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1; 176807 PROSTATE CANCER; 188400 DIGEORGE SYNDROME; DGS; 189907 HNF1 HOMEOBOX B; HNF1B; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 192430 VELOCARDIOFACIAL SYNDROME; 226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB; 601007 LEPTIN RECEPTOR; LEPR; 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1; 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL; 602607 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1; SLC22A1; 602914 AQUAPORIN 9; AQP9; 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS; 604118 RAS PROTEIN ACTIVATOR-LIKE 1; RASAL1; 606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4; 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;; 610997 PROSTATE CANCER, HEREDITARY, 9; 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; 611230 NON-SMC CONDENSIN II COMPLEX SUBUNIT H2; NCAPH2; 611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9; 611555 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE,

October 24, 2007
New Entries:: 611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9; 611548 PREMATURE OVARIAN FAILURE 5; POF5; 611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN; 611550 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3; 611551 FIBULIN 7; FBLN7
Changed Entries:: 102574 ACTININ, ALPHA-3; ACTN3; 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 104700 AMYLASE, SALIVARY, A; AMY1A; 109170 LEUKOCYTE-SPECIFIC TRANSCRIPT 1; LST1; 116600 CATARACT, POSTERIOR POLAR, 1; CTPP1; 137295 GATA-BINDING PROTEIN 2; GATA2; 142560 HLA-B-ASSOCIATED TRANSCRIPT 1; BAT1; 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147680 INTERLEUKIN 2; IL2; 147795 JANUS KINASE 1; JAK1; 161560 INTERLEUKIN 12A; IL12A; 161561 INTERLEUKIN 12B; IL12B; 173850 POLIOVIRUS RECEPTOR; PVR; 176941 PROTEIN-TYROSINE KINASE 2; TYK2; 191160 TUMOR NECROSIS FACTOR; TNF; 191200 TUNE DEAFNESS; 226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB; 229900 MOVED TO 258870; 230800 GAUCHER DISEASE, TYPE I; 233420 GONADAL DYSGENESIS, XY TYPE; 243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 314980 ZINC FINGER PROTEIN, X-LINKED; ZFX; 600004 EPHRIN RECEPTOR EphA5; EPHA5; 600031 CHITINASE 1; CHIT1; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 600798 POLIOVIRUS RECEPTOR-LIKE 2; PVRL2; 600978 LYMPHOTOXIN-BETA; LTB; 601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP; 601535 EPHRIN A5; EFNA5; 601719 T-BOX 4; TBX4; 602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;; 602407 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2; 603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11; 604164 ONE CUT HOMEOBOX 1; ONECUT1; 605283 MAGE-LIKE 2; MAGEL2; 605387 CATARACT, POSTERIOR POLAR, 3; CTPP3; 605397 CD226 ANTIGEN; CD226; 605423 DESERT HEDGEHOG; DHH; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606255 STATURE AS A QUANTITATIVE TRAIT; 606446 SLAM FAMILY, MEMBER 6; SLAMF6; 607080 GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY; 608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5; 608996 PREMATURE OVARIAN FAILURE 3; POF3; 609836 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 2; PCBD2; 610252 MICRO RNA 1-2; MIRN1-2; 610897 CHMP FAMILY, MEMBER 4B; CHMP4B; 610934 NEWBORN OVARY HOMEOBOX, MOUSE, HOMOLOG OF; NOBOX; 611546 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6; 611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9

October 23, 2007
New Entries:: 300682 MICRO RNA 424; MIRN424; 611498 NEPHRONOPHTHISIS 7; NPHP7; 611542 ARYLSULFATASE B; ARSB; 611546 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 103800 MOVED TO 253200 AND 258870; 120700 COMPLEMENT COMPONENT 3; C3; 136351 FMS-RELATED TYROSINE KINASE 3; FLT3; 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1; 142250 HEMOGLOBIN, GAMMA G; HBG2; 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5; 142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2; 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3; 154045 LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2; 158340 MUCIN 1, TRANSMEMBRANE; MUC1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 228980 FLECK RETINA, FAMILIAL BENIGN; 229900 MOVED TO 258870; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 253200 MUCOPOLYSACCHARIDOSIS TYPE VI; 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY; 261600 PHENYLKETONURIA; 264150 MOVED TO 177170; 272200 MULTIPLE SULFATASE DEFICIENCY; MSD; 300180 ARYLSULFATASE E; ARSE; 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1; 305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 600201 AGOUTI SIGNALING PROTEIN; ASIP; 602322 TELOMERASE RNA COMPONENT; TERC; 603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A; 603570 VANIN 1; VNN1; 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1; 606050 UBIQUITIN D; UBD; 606557 B-CELL CLL/LYMPHOMA 11A; BCL11A; 606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4; 607574 ARYLSULFATASE A; ARSA; 608539 GLIS FAMILY ZINC FINGER PROTEIN 2; GLIS2; 610057 GLYCOPROTEIN, SYNAPTIC, 2; GPSN2; 610599 RETINITIS PIGMENTOSA 36; RP36; 610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR; 611321 CALSYNTENIN 1; CLSTN1; 611361 UBIQUITIN-ACTIVATING ENZYME E1-LIKE 2; UBE1L2; 611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9; 611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63; 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6; 611542 ARYLSULFATASE B; ARSB

October 22, 2007
New Entries:: 611545 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 8; CYP4F8
Changed Entries:: 113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1; 150310 LAMININ, BETA-3; LAMB3; 226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB; 226700 EPIDERMOLYSIS BULLOSA LETALIS; 229300 FRIEDREICH ATAXIA 1; FRDA; 249100 FAMILIAL MEDITERRANEAN FEVER; FMF; 602865 DELETED IN BLADDER CANCER 1; DBC1; 606158 BSCL2 GENE; BSCL2; 608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV; 611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12; 611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11

October 19, 2007
New Entries:: 611543 CAVITARY OPTIC DISC ANOMALIES; 611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3
Changed Entries:: 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 191092 TSC2 GENE; TSC2; 191100 TUBEROUS SCLEROSIS; TS; 268000 RETINITIS PIGMENTOSA; RP; 300658 NDP GENE; NDP; 301500 FABRY DISEASE; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 535000 LEBER OPTIC ATROPHY; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600929 CRYSTALLIN, BETA-B1; CRYBB1; 604580 FIBULIN 5; FBLN5; 606350 APRATAXIN; APTX; 606793 AMINOPEPTIDASE, PUROMYCIN-SENSITIVE; NPEPPS; 607042 CLN3 GENE; CLN3; 609978 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2; CADPS2; 611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3

October 18, 2007
New Entries:: 611540 SH3-DOMAIN GRB2-LIKE (ENDOPHILIN)-INTERACTING PROTEIN 1; SGIP1; 611541 SORTING NEXIN 27; SNX27
Changed Entries:: 102581 ACTIVIN A RECEPTOR, TYPE II; ACVR2; 117700 CERULOPLASMIN; CP; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; 176830 PROOPIOMELANOCORTIN; POMC; 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1; 210000 BEHR SYNDROME; 250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; 250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV; 258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III; 261100 MEGALOBLASTIC ANEMIA 1; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 302060 BARTH SYNDROME; BTHS; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1; 600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2; 601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D; 601693 UNCOUPLING PROTEIN 2; UCP2; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4; 602098 POLO-LIKE KINASE 1; PLK1; 602442 INTERSECTIN 1; ITSN1; 602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM; 602769 DNA METHYLTRANSFERASE 3A; DNMT3A; 603651 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 4;; 603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;; 603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB; 604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 605514 PROTOCADHERIN 15; PCDH15; 605516 CADHERIN 23; CDH23; 606580 OPA3 GENE; OPA3; 606588 DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L; 608144 SAM POINTED DOMAIN-CONTAINING ETS TRANSCRIPTION FACTOR; SPDEF; 608639 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 8;; 609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2; 610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; 611313 LOC387715 GENE

October 17, 2007
New Entries:: 611538 OLFACTORY RECEPTOR, FAMILY 7, SUBFAMILY D, MEMBER 4; OR7D4; 611539 FORKHEAD BOX D3; FOXD3
Changed Entries:: 134370 COMPLEMENT FACTOR H; CFH; 137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5; 237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; 257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B; 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC; 300032 ATR-X GENE; ATRX; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 535000 LEBER OPTIC ATROPHY; 600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP; 601371 CATARACT, AGE-RELATED NUCLEAR; 601442 COFILIN 1; CFL1; 601652 MYOCILIN; MYOC; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602345 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3;; 604096 GLUTAMATE RECEPTOR, METABOTROPIC, 6; GRM6; 608300 N-ACETYLGLUTAMATE SYNTHASE; NAGS; 608400 USH2A GENE; USH2A; 609026 CATARACT, AGE-RELATED CORTICAL; 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4; 611313 LOC387715 GENE; 611538 OLFACTORY RECEPTOR, FAMILY 7, SUBFAMILY D, MEMBER 4; OR7D4; Clinical Synopsis for 177170 PSEUDOACHONDROPLASIA; PSACH; Clinical Synopsis for 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;

October 16, 2007
New Entries:: 611277 FEBRILE CONVULSIONS, FAMILIAL, 8; FEB8; 611515 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7; 611533 NUCLEOLAR PROTEIN 7; NOL7; 611534 NUCLEOLAR PROTEIN 8; NOL8; 611537 CATENIN, BETA-LIKE, 1; CTNNBL1
Changed Entries:: 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1; 121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2; 147100 IgG HEAVY CHAIN LOCUS; IGHG1; 155760 AGGRECAN 1; AGC1; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 167414 PAIRED BOX GENE 5; PAX5; 177150 MOVED TO 177170; 177170 PSEUDOACHONDROPLASIA; PSACH; 179615 RECOMBINATION-ACTIVATING GENE 1; RAG1; 179616 RECOMBINATION-ACTIVATING GENE 2; RAG2; 194363 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4; 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM; 261600 PHENYLKETONURIA; 300451 ECTODYSPLASIN A; EDA; 305100 ECTODERMAL DYSPLASIA 1; ED1; 600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP; 600563 PROSTAGLANDIN F RECEPTOR; PTGFR; 601204 PROSTAGLANDIN F2 RECEPTOR NEGATIVE REGULATOR; PTGFRN; 601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4; 602194 HTRA SERINE PEPTIDASE 1; HTRA1; 602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM; 602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1; 602740 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1; 602742 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1; 602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604580 FIBULIN 5; FBLN5; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 605194 CRYPTIC PROTEIN; CFC1; 608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6; 609633 MAJOR AFFECTIVE DISORDER 3; MAFD3; 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7; 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4; 611313 LOC387715 GENE; 611515 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7; 611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11

October 15, 2007
New Entries:: 611530 NEUROLYSIN; NLN; 611531 ESSENTIAL FOR MITOTIC GROWTH 1, S. CEREVISIAE, HOMOLOG OF; EMG1; 611532 NUCLEOLAR PROTEIN 6; NOL6; 611535 MAJOR AFFECTIVE DISORDER 5; MAFD5; 611536 MAJOR AFFECTIVE DISORDER 6; MAFD6
Changed Entries:: 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 134370 COMPLEMENT FACTOR H; CFH; 137920 RENAL CYSTS AND DIABETES SYNDROME; 187500 TETRALOGY OF FALLOT; 189907 TRANSCRIPTION FACTOR 2; TCF2; 600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP; 601117 THIMET OLIGOPEPTIDASE 1; THOP1; 602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B; 603058 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 4; PCDHGB4; 603059 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 12; PCDHGA12; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603627 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 3; PCDHGC3; 604967 PROTOCADHERIN-BETA GENE CLUSTER; 604968 PROTOCADHERIN-GAMMA GENE CLUSTER; 605194 CRYPTIC PROTEIN; CFC1; 605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL; 606290 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 3; PCDHGA3; 606291 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 4; PCDHGA4; 606292 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 5; PCDHGA5; 606293 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 6; PCDHGA6; 606294 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 7; PCDHGA7; 606295 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 8; PCDHGA8; 606296 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 9; PCDHGA9; 606297 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 10; PCDHGA10; 606298 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 11; PCDHGA11; 606299 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 1; PCDHGB1; 606300 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 2; PCDHGB2; 606301 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 3; PCDHGB3; 606302 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 5; PCDHGB5; 606303 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 6; PCDHGB6; 606304 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 7; PCDHGB7; 606305 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 4; PCDHGC4; 606306 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 5; PCDHGC5; 606325 HETEROTAXY, VISCERAL, 3, AUTOSOMAL; 606327 PROTOCADHERIN-BETA 1; PCDHB1; 606328 PROTOCADHERIN-BETA 2; PCDHB2; 606329 PROTOCADHERIN-BETA 3; PCDHB3; 606330 PROTOCADHERIN-BETA 4; PCDHB4; 606331 PROTOCADHERIN-BETA 5; PCDHB5; 606332 PROTOCADHERIN-BETA 6; PCDHB6; 606333 PROTOCADHERIN-BETA 7; PCDHB7; 606334 PROTOCADHERIN-BETA 8; PCDHB8; 606335 PROTOCADHERIN-BETA 9; PCDHB9; 606336 PROTOCADHERIN-BETA 10; PCDHB10; 606337 PROTOCADHERIN-BETA 11; PCDHB11; 606338 PROTOCADHERIN-BETA 12; PCDHB12; 606339 PROTOCADHERIN-BETA 13; PCDHB13; 606340 PROTOCADHERIN-BETA 14; PCDHB14; 606341 PROTOCADHERIN-BETA 15; PCDHB15; 608548 HEMICENTIN; HMCN1; 608771 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 2; THRAP2; 608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1; 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4; 611526 NUCLEOLAR PROTEIN 14; NOL14

October 12, 2007
New Entries:: 611525 POLYMERASE (DNA-DIRECTED), DELTA 4; POLD4; 611526 NUCLEOLAR PROTEIN 14; NOL14; 611527 Na+/H+ EXCHANGER DOMAIN-CONTAINING 1; NHEDC1; 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12; 611529 CYTOCHROME P450, FAMILY 2, SUBFAMILY S, POLYPEPTIDE 1; CYP2S1
Changed Entries:: 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR; 142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G; 156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 173325 JUNCTION PLAKOGLOBIN; JUP; 174761 POLYMERASE (DNA-DIRECTED), DELTA 1, CATALYTIC SUBUNIT; POLD1; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 180200 RETINOBLASTOMA; RB1; 192320 VASOACTIVE INTESTINAL PEPTIDE; VIP; 259775 RAINE SYNDROME; RNS; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 600477 SOLUTE CARRIER FAMILY 9, ISOFORM A5; SLC9A5; 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; 600815 POLYMERASE (DNA-DIRECTED), DELTA 2, REGULATORY SUBUNIT; POLD2; 602287 ENDOPLASMIC RETICULUM PROTEIN, 29-KD; ERP29; 602863 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9A; WNT9A; 604966 PROTOCADHERIN-ALPHA GENE CLUSTER; 604967 PROTOCADHERIN-BETA GENE CLUSTER; 605248 MUCOLIPIN 1; MCOLN1; 606307 PROTOCADHERIN-ALPHA 1; PCDHA1; 606308 PROTOCADHERIN-ALPHA 2; PCDHA2; 606309 PROTOCADHERIN-ALPHA 3; PCDHA3; 606310 PROTOCADHERIN-ALPHA 4; PCDHA4; 606311 PROTOCADHERIN-ALPHA 5; PCDHA5; 606312 PROTOCADHERIN-ALPHA 6; PCDHA6; 606313 PROTOCADHERIN-ALPHA 7; PCDHA7; 606314 PROTOCADHERIN-ALPHA 8; PCDHA8; 606315 PROTOCADHERIN-ALPHA 9; PCDHA9; 606316 PROTOCADHERIN-ALPHA 10; PCDHA10; 606317 PROTOCADHERIN-ALPHA 11; PCDHA11; 606318 PROTOCADHERIN-ALPHA 12; PCDHA12; 606319 PROTOCADHERIN-ALPHA 13; PCDHA13; 606320 PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 1; PCDHAC1; 606321 PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 2; PCDHAC2; 607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1; 607643 FASCIN, SEA URCHIN, HOMOLOG OF, 2; FSCN2; 609507 TOPOISOMERASE I-BINDING ARGININE/SERINE-RICH PROTEIN; TOPORS; 609923 RETINITIS PIGMENTOSA 31; RP31; 610642 ENDOPLASMIC RETICULUM PROTEIN, 27-KD; ERP27; 611061 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C; 611415 POLYMERASE (DNA-DIRECTED), DELTA 3, ACCESSORY SUBUNIT; POLD3; 611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5; 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6; Clinical Synopsis for 181000 SARCOIDOSIS; Clinical Synopsis for 210000 BEHR SYNDROME

October 11, 2007
New Entries:: 300681 DEDICATOR OF CYTOKINESIS 11; DOCK11; 611519 POLYMERASE DELTA-INTERACTING PROTEIN 2; POLDIP2; 611520 POLYMERASE DELTA-INTERACTING PROTEIN 3; POLDIP3; 611521 PROTEIN-TYROSINE KINASE 2 DEFICIENCY; 611522 INTRAOCULAR PRESSURE QUANTITATIVE TRAIT LOCUS; IOPQTL; 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6; 611524 ARGINYL-tRNA SYNTHETASE 2; RARS2; Clinical Synopsis for 300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14
Changed Entries:: 103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2; 107820 ARGINYL-tRNA SYNTHETASE 1; RARS1; 114800 CARBONIC ANHYDRASE I; CA1; 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1; 154045 LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2; 176941 PROTEIN-TYROSINE KINASE 2; TYK2; 179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 211750 C SYNDROME; 225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA; 535000 LEBER OPTIC ATROPHY; 590005 TRANSFER RNA, MITOCHONDRIAL, ARGININE; MTTR; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 604967 PROTOCADHERIN-BETA GENE CLUSTER; 605039 C-LIKE SYNDROME; 606037 CD96 ANTIGEN; CD96; 607325 DEDICATOR OF CYTOKINESIS 9; DOCK9; 608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; 611376 MUNGAN SYNDROME; MGS; 611492 CARBONIC ANHYDRASE II; CA2; 611521 PROTEIN-TYROSINE KINASE 2 DEFICIENCY; 611524 ARGINYL-tRNA SYNTHETASE 2; RARS2; Clinical Synopsis for 255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE

October 10, 2007
New Entries:: 611499 BETA-GLUCURONIDASE; GUSB; 611516 NICOLIN 1; NICN1; 611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11; 611518 DEDICATOR OF CYTOKINESIS 10; DOCK10
Changed Entries:: 102530 GLOBOZOOSPERMIA; 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 113810 DYSTONIN; DST; 114050 CALBINDIN 1; CALB1; 114750 CARBONIC ANHYDRASE III; CA3; 114780 CARBONIC ANHYDRASE VI; CA6; 168820 PARAOXONASE 1; PON1; 172470 PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1; PHKG1; 209850 AUTISM; 219700 CYSTIC FIBROSIS; CF; 229600 FRUCTOSE INTOLERANCE, HEREDITARY; 231610 REMOVED FROM DATABASE; 235200 HEMOCHROMATOSIS; HFE; 248900 MAST SYNDROME; 253220 MUCOPOLYSACCHARIDOSIS TYPE VII; 257980 ODONTOONYCHODERMAL DYSPLASIA; OODD; 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1; 259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3; 300230 CARBONIC ANHYDRASE VB, MITOCHONDRIAL; CA5B; 600164 GTP-BINDING MITOGEN-INDUCED T-CELL PROTEIN; GEM; 601665 OBESITY; 604592 T CELL IMMUNE REGULATOR 1; TCIRG1; 604824 KLOTHO; KL; 604943 SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5; 606268 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A; 606679 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5;; 607325 DEDICATOR OF CYTOKINESIS 9; DOCK9; 607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1; 608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3; 609856 SPERMATOGENESIS-ASSOCIATED PROTEIN 16; SPATA16; 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO; 611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12; 611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5; 611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6; 611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7; 611094 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8; MRT8; 611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9; MRT9; 611096 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10; MRT10; 611097 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11; MRT11; 611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4; MRT4; 611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11; Clinical Synopsis for 231610 REMOVED FROM DATABASE; Clinical Synopsis for 253220 MUCOPOLYSACCHARIDOSIS TYPE VII; Clinical Synopsis for 276901 USHER SYNDROME, TYPE IIA; USH2A

October 9, 2007
New Entries:: 300680 PREGNANCY-UPREGULATED, NONUBIQUITOUS, CAM KINASE; PNCK
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 116957 RETINOBLASTOMA-LIKE 1; RBL1; 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 138244 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 2; GRIK2; 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; 170280 PERFORIN 1; PRF1; 176640 PRION PROTEIN; PRNP; 180200 RETINOBLASTOMA; RB1; 180203 RETINOBLASTOMA-LIKE 2; RBL2; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE; 266300 HAIR COLOR 2; HCL2; 602600 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 8; LRP8; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 605494 INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP; 607099 MBD2-INTERACTING ZINC FINGER PROTEIN; MIZF; 607358 AUTOIMMUNE REGULATOR; AIRE; 607957 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-DELTA; CAMK1D; 608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1; 609130 APOPTOSIS-INDUCING, TAF9-LIKE DOMAIN 1; APITD1; 610152 CENTROMERIC PROTEIN M; CENPM; 611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6; MRT6; 611153 XPA GENE; XPA; 611509 CENTROMERIC PROTEIN N; CENPN; 611510 CENTROMERIC PROTEIN T; CENPT; 611511 MLF1-INTERACTING PROTEIN; MLF1IP; Clinical Synopsis for 253010 MORQUIO SYNDROME B

October 8, 2007
New Entries:: 611504 CENTROMERIC PROTEIN O; CENPO; 611505 CENTROMERIC PROTEIN P; CENPP; 611506 CENTROMERIC PROTEIN Q; CENPQ; 611509 CENTROMERE PROTEIN N; CENPN; 611510 CENTROMERE PROTEIN T; CENPT; 611511 MLF1-INTERACTING PROTEIN; MLF1IP; 611512 JUMONJI DOMAIN-CONTAINING PROTEIN 1A; JMJD1A; 611513 NEUROGENIC DIFFERENTIATION 6; NEUROD6; 611514 G PROTEIN-COUPLED RECEPTOR 177; GPR177
Changed Entries:: 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; 137440 GERSTMANN-STRAUSSLER DISEASE; GSD; 145500 HYPERTENSION, ESSENTIAL; 168600 PARKINSON DISEASE; PD; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 300065 CENTROMERIC PROTEIN I; CENPI; 600733 INSULIN PROMOTER FACTOR 1; IPF1; 600754 MATRIX METALLOPROTEINASE 14; MMP14; 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK; 602302 HAIRLESS, MOUSE, HOMOLOG OF; HR; 605494 INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP; 606034 RIBONUCLEASE H2, SUBUNIT A; RNASEH2A; 606349 GAMBLING, PATHOLOGIC; 606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 607272 KINETOCHORE-ASSOCIATED PROTEIN 2; KNTC2; 608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX; 609130 APOPTOSIS-INDUCING, TAF9-LIKE DOMAIN 1; APITD1; 609373 JUMONJI DOMAIN-CONTAINING PROTEIN 1B; JMJD1B; 609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A; 610152 CENTROMERE PROTEIN M; CENPM; 610326 RIBONUCLEASE H2, SUBUNIT B; RNASEH2B; 610330 RIBONUCLEASE H2, SUBUNIT C; RNASEH2C; 610448 CHILBLAIN LUPUS; CHBL; 611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9; 611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5; 611513 NEUROGENIC DIFFERENTIATION 6; NEUROD6

October 5, 2007
New Entries:: 611501 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1; CAMTA1; 611502 CENTROMERIC PROTEIN K; CENPK; 611503 CENTROMERIC PROTEIN L; CENPL; 611507 CDGSH IRON SULFUR DOMAIN PROTEIN 2; CISD2; 611508 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 2; CAMTA2
Changed Entries:: 201000 CARPENTER SYNDROME; 222300 WOLFRAM SYNDROME 1; WFS1; 300307 T-BOX 22; TBX22; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1; 602113 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2; 604928 WOLFRAM SYNDROME 2; WFS2; 606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1; 606144 RAS-ASSOCIATED PROTEIN RAB23; RAB23; 606834 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 4; 611502 CENTROMERIC PROTEIN K; CENPK

October 4, 2007
New Entries:: 611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY; 611500 MICRO RNA 219-1; MIRN219-1
Changed Entries:: 106410 ANKYRIN 2; ANK2; 107400 PROTEASE INHIBITOR 1; PI; 107410 PROTEASE INHIBITOR 1-LIKE; PIL; 113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, 1; PFHBI1; 114500 COLORECTAL CANCER; CRC; 116952 CELL DIVISION CYCLE 42; CDC42; 117139 CENTROMERIC PROTEIN A; CENPA; 119915 CLUSTER HEADACHE, FAMILIAL; 120700 COMPLEMENT COMPONENT 3; C3; 122500 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 6; SERPINA6; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 134370 COMPLEMENT FACTOR H; CFH; 136630 MENTAL RETARDATION, FRA12A TYPE; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 143100 HUNTINGTON DISEASE; HD; 147935 PROTEASE INHIBITOR 4; PI4; 152430 LONGEVITY; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 174763 POLYMERASE, DNA, GAMMA; POLG; 176780 PELVIC ORGAN PROLAPSE; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 180381 G PROTEIN-DEPENDENT RECEPTOR KINASE 1; GRK1; 186357 SYNDECAN 3; SDC3; 191060 TRYPTOPHAN HYDROXYLASE 1; TPH1; 213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1; 217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; 230600 GM1-GANGLIOSIDOSIS, TYPE II; 230650 GM1-GANGLIOSIDOSIS, TYPE III; 242300 ICHTHYOSIS, LAMELLAR, 1; LI1; 245400 LACTIC ACIDOSIS, FATAL INFANTILE; 246530 LEUKOTRIENE C4 SYNTHASE; LTC4S; 253010 MORQUIO SYNDROME B; 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1; 259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5; 300279 MOVED TO 300260; 300410 ANGIOMOTIN; AMOT; 300458 MOVED TO 300055; 300553 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3; 300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE; 300659 MENTAL RETARDATION, X-LINKED 93; MRX93; 300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; 305600 FOCAL DERMAL HYPOPLASIA; FDH; 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1; 308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1; 600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1; 600105 RETINITIS PIGMENTOSA 12; RP12; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 600779 MOVED TO 164874; 600807 ASTHMA, SUSCEPTIBILITY TO; 600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601665 OBESITY; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 601753 PEPTIDYL-PROLYL ISOMERASE D; PPID; 602026 PHYTANOYL-CoA HYDROXYLASE; PHYH; 602194 HTRA SERINE PEPTIDASE 1; HTRA1; 602393 HYPOCRETIN RECEPTOR 2; HCRTR2; 602681 FORKHEAD BOX O3A; FOXO3A; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603151 SEPTIN 7; SEPT7; 603337 DYNEIN, AXONEMAL, HEAVY CHAIN 8; DNAH8; 603910 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT J; EIF3J; 603912 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT H; EIF3H; 603913 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT G; EIF3G; 603914 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT F; EIF3F; 603915 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT D; EIF3D; 603916 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT C; EIF3C; 603917 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT B; EIF3B; 603958 REGULATORY FACTOR X, 4; RFX4; 604486 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, MITOCHONDRIAL; PPIF; 604537 LEBER CONGENITAL AMAUROSIS, TYPE V; LCA5; 604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, 2; PFHBI2; 604777 ICHTHYOSIS, LAMELLAR, 3; LI3; 604780 ABHYDROLASE DOMAIN-CONTAINING 5; ABHD5; 604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; 605498 M-PHASE PHOSPHOPROTEIN 1; MPHOSPH1; 605602 MYOZENIN 2; MYOZ2; 606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2; 606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; 606935 RNA-BINDING MOTIF PROTEIN 17; RBM17; 607711 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, A; DIP2A; 608293 RHO GTPase-ACTIVATING PROTEIN 17; ARHGAP17; 608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; 608702 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 3; NMNAT3; 609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE; HCHWAD; 609396 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE; PHLPP; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6; 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO; 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO; 609596 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT K; EIF3K; 609641 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M; 609784 UPSTREAM BINDING PROTEIN 1; UBP1; 610016 MICRO RNA 132; MIRN132; 611109 CINNAMON ODOR, PLEASANTNESS OF; 611112 DAPPER, ANTAGONIST OF BETA-CATENIN, 3; DACT3; 611113 CEMENTUM PROTEIN 1; CEMP1; 611115 VON WILLEBRAND FACTOR C AND EGF DOMAIN-CONTAINING PROTEIN; VWCE; 611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1; 611118 NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL; 611119 KELCH-LIKE 7; KLHL7; 611120 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3; 611121 CALMIN; CLMN; 611122 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 28; ANKRD28; 611123 EPHRIN RECEPTOR EphA10; EPHA10; 611125 DERMATAN SULFATE EPIMERASE-LIKE; DSEL; 611127 UBIQUITIN-LIKE 4B; UBL4B; 611128 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2; MDGA2; 611129 CHROMOSOME 10 OPEN READING FRAME 26; C10ORF26; 611130 CHMP FAMILY, MEMBER 7; CHMP7; 611132 RIBOKINASE; RBKS; 611133 SMALL NUCLEOLAR RNA, C/D BOX, 82; SNORD82; 611135 KLOTHO, BETA; KLB; 611136 EPILEPSY, CHILDHOOD ABSENCE, 4; ECA4; 611137 PROTEASOME SUBUNIT, BETA-TYPE, 11; 611138 SPERMATID PERINUCLEAR RNA-BINDING PROTEIN; STRBP; 611150 ATAXIN 10; ATXN10; 611152 ALZHEIMER DISEASE 13; AD13; 611153 XPA GENE; XPA; 611155 ALZHEIMER DISEASE 15; AD15; 611177 INTRAFLAGELLAR TRANSPORT 80, CHLAMYDOMONAS, HOMOLOG OF; IFT80; 611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G; 611210 PDZ-BINDING KINASE; PBK; 611223 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 3; AKT3; 611224 SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT; SUCLG1; 611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J; 611263 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2; 611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY; 611302 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE; SPAX2; 611313 LOC387715 GENE; 611363 ATRIAL SEPTAL DEFECT 4; ASD4; 611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9; 611379 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, B; DIP2B; 611380 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, C; DIP2C; 611408 LCA5 GENE; LCA5; 611412 N-ACETYLNEURAMINATE PYRUVATE LYASE; NPL; 611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63; 611458 GALACTOSIDASE, BETA-1; GLB1; 611466 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1;; 611483 YIP1 DOMAIN FAMILY, MEMBER 5; YIPF5; 611484 YIP1-INTERACTING FACTOR, S. CEREVISIAE, HOMOLOG OF, A; YIF1A; 611488 MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10; 611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4; 611491 RAP GTPase INTERACTOR; 611492 CARBONIC ANHYDRASE II; CA2; 611495 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22; CYP4F22; 611496 GATA-BINDING PROTEIN 5; GATA5; 611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6; Clinical Synopsis for 606693 KUFOR-RAKEB SYNDROME; KRS

October 3, 2007
New Entries:: 611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4; 611492 CARBONIC ANHYDRASE II; CA2; 611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4; 611494 ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5; 611495 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22; CYP4F22; 611496 GATA-BINDING PROTEIN 5; GATA5; 611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 106150 ANGIOTENSIN I; AGT; 108770 ATRIAL STANDSTILL; 116890 CATHEPSIN E; CTSE; 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5; 136440 FOLLICULAR LYMPHOMA VARIANT TRANSLOCATION 1; FVT1; 142410 TRANSCRIPTION FACTOR 1; TCF1; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 160900 DYSTROPHIA MYOTONICA 1; 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 190195 TRANSGLUTAMINASE 1; TGM1; 224300 DYSOSTEOSCLEROSIS; 242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1; 242300 ICHTHYOSIS, LAMELLAR, 1; LI1; 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1; 259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2; 259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5; 259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3; 265800 PYCNODYSOSTOSIS; 267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS; 275630 CHANARIN-DORFMAN SYNDROME; CDS; 600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D; 600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601277 ICHTHYOSIS, LAMELLAR, 2; LI2; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 602727 CHLORIDE CHANNEL 7; CLCN7; 603202 LACTASE; LCT; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;; 604592 T CELL IMMUNE REGULATOR 1; TCIRG1; 604777 ICHTHYOSIS, LAMELLAR, 3; LI3; 604780 ABHYDROLASE DOMAIN-CONTAINING 5; ABHD5; 606545 ICHTHYOSIS, LAMELLAR, 5; LI5; 607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3; POU2F3; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607554 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3; 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1; 607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1; 607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12; 608201 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2; 608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1; 608988 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2; 609393 KRUPPEL-LIKE FACTOR 14; KLF14; 611466 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1;; 611496 GATA-BINDING PROTEIN 5; GATA5

October 2, 2007
New Entries:: 611483 YIP1 DOMAIN FAMILY, MEMBER 5; YIPF5; 611491 RAP GTPase INTERACTOR
Changed Entries:: 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120420 COLONY-STIMULATING FACTOR 1; CSF1; 134797 FIBRILLIN 1; FBN1; 138945 GRANULIN; GRN; 154700 MARFAN SYNDROME; MFS; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 167411 PAIRED BOX GENE 1; PAX1; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 176270 PRADER-WILLI SYNDROME; PWS; 176730 INSULIN; INS; 182205 SEX HORMONE-BINDING GLOBULIN; SHBG; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 186357 SYNDECAN 3; SDC3; 189971 E2F TRANSCRIPTION FACTOR 1; E2F1; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 230600 GM1-GANGLIOSIDOSIS, TYPE II; 230650 GM1-GANGLIOSIDOSIS, TYPE III; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600274 FRONTOTEMPORAL DEMENTIA; FTD; 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST; 600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2; 600871 GROWTH FACTOR-INDEPENDENT 1; GFI1; 601059 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR; 601665 OBESITY; 602039 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT A; EIF3A; 602113 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2; 602210 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT E; EIF3E; 602912 EUKARYOTIC TRANSLATION INITIATION FACTOR 6; EIF6; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 603910 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT J; EIF3J; 603911 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT I; EIF3I; 603912 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT H; EIF3H; 603913 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT G; EIF3G; 603914 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT F; EIF3F; 603915 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT D; EIF3D; 603916 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT C; EIF3C; 603917 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT B; EIF3B; 604383 GROWTH FACTOR-INDEPENDENT 1B; GFI1B; 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1; 607240 SET DOMAIN-CONTAINING PROTEIN 8; SETD8; 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;; 607675 REST COREPRESSOR; RCOR; 607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP; 609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2; 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6; 609596 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT K; EIF3K; 609641 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M; 609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2; 611458 GALACTOSIDASE, BETA-1; GLB1; 611484 YIP1-INTERACTING FACTOR, S. CEREVISIAE, HOMOLOG OF, A; YIF1A; Clinical Synopsis for 230500 GM1-GANGLIOSIDOSIS, TYPE I

October 1, 2007
New Entries:: 611458 GALACTOSIDASE, BETA-1; GLB1; 611475 RNA POLYMERASE II-ASSOCIATED PROTEIN 1; RPAP1; 611476 RNA POLYMERASE II-ASSOCIATED PROTEIN 2; RPAP2; 611477 RNA POLYMERASE II-ASSOCIATED PROTEIN 3; RPAP3; 611478 METHYLPHOSPHATE CAPPING ENZYME; MEPCE; 611479 XPA-BINDING PROTEIN 1; XAB1; 611480 PIH1 DOMAIN-CONTAINING PROTEIN 1; PIH1D1; 611484 RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO, 3; RA3; 611488 MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10
Changed Entries:: 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 146738 INSULIN-LIKE 3; INSL3; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 165195 OPIOID RECEPTOR, DELTA-1; OPRD1; 165196 OPIOID RECEPTOR, KAPPA-1; OPRK1; 180300 RHEUMATOID ARTHRITIS; RA; 194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1; 230500 GM1-GANGLIOSIDOSIS, TYPE I; 230600 GM1-GANGLIOSIDOSIS, TYPE II; 230650 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III; 245200 KRABBE DISEASE; 253010 MORQUIO SYNDROME B; 256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY; 268800 SANDHOFF DISEASE; 272800 TAY-SACHS DISEASE; TSD; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4; 600940 LIGASE III, DNA, ATP-DEPENDENT; LIG3; 601506 SEPTIN 2; SEPT2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603151 SEPTIN 7; SEPT7; 603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2; 605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8; 606515 RNA, 7SK SMALL NUCLEAR; RN7SK; 606869 HEXOSAMINIDASE A; HEXA; 607014 HURLER SYNDROME; 611153 XPA GENE; XPA; 611453 DYSBINDIN DOMAIN-CONTAINING 2; DBNDD2; 611457 FORKHEAD BOX O6; 611462 CHROMOSOME 17 OPEN READING FRAME 38; C17ORF38; 611463 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 2; SAT2; 611467 GUANYLATE-BINDING PROTEIN 5: GBP5; 611471 ACID PHOSPHATASE 6, LYSOPHOSPHATIDE; ACP6; 611478 METHYLPHOSPHATE CAPPING ENZYME; MEPCE; 611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12

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OMIM Update List for October, 2007

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