OMIM Update List for September, 2008

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Nucleotide

Protein

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OMIM Update List for September, 2008

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September 25, 2008
New Entries:: 612304 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL; 612316 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3A; ATAD3A; 612317 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3B; ATAD3B
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 106150 ANGIOTENSIN I; AGT; 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 108360 ASIALOGLYCOPROTEIN RECEPTOR 1; ASGR1; 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4; 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1; 123280 CREATINE KINASE, BRAIN TYPE; CKB; 126451 DOPAMINE RECEPTOR D3; DRD3; 130160 ELASTIN; ELN; 133430 ESTROGEN RECEPTOR 1; ESR1; 136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 137920 RENAL CYSTS AND DIABETES SYNDROME; 138450 SERINE HYDROXYMETHYLTRANSFERASE, MITOCHONDRIAL; SHMT2; 140000 HAND-FOOT-UTERUS SYNDROME; 142950 HOMEOBOX A7; HOXA7; 146110 HYPOGONADOTROPIC HYPOGONADISM; 146160 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES; 158330 MULLERIAN APLASIA AND HYPERANDROGENISM; 162650 NEUROTENSIN; NTS; 168600 PARKINSON DISEASE; PD; 174763 POLYMERASE, DNA, GAMMA; POLG; 176860 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL; 179820 RENIN; REN; 180490 RIBOPHORIN II; RPN2; 182290 SMITH-MAGENIS SYNDROME; SMS; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 213300 JOUBERT SYNDROME; JBTS; 241090 HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA; 248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT; 255980 NASODIGITOACOUSTIC SYNDROME; 261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS; 266810 RENAL AND MULLERIAN DUCT HYPOPLASIA; 277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME; 300150 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; 300212 REGUCALCIN; RGN; 300694 MICRO RNA 223; MIRN223; 480000 SEX-DETERMINING REGION Y; SRY; 600438 TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM; 600439 SINGLE-STRANDED DNA-BINDING PROTEIN 1; SSBP1; 600956 ANTI-MULLERIAN HORMONE TYPE II RECEPTOR; AMHR2; 600957 ANTI-MULLERIAN HORMONE; AMH; 601076 MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC; 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A; 601555 RHO FAMILY GTPase 2; RND2; 601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A; 601965 SPHINGOSINE 1-PHOSPHATE RECEPTOR 3; S1PR3; 601974 SPHINGOSINE 1-PHOSPHATE RECEPTOR 1; S1PR1; 602389 Tu TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TUFM; 603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4; 603751 SPHINGOSINE 1-PHOSPHATE RECEPTOR 4; S1PR4; 605111 SPHINGOSINE 1-PHOSPHATE RECEPTOR 2; S1PR2; 605122 SUV3-LIKE 1; SUPV3L1; 605146 SPHINGOSINE 1-PHOSPHATE RECEPTOR 5; S1PR5; 606624 NEUROGENIN 2; NEUROG2; 607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC; 607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE; 608091 JOUBERT SYNDROME 2; JBTS2; 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D; 608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1; 608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO; 608629 JOUBERT SYNDROME 3; JBTS3; 609326 MICRO RNA 1-1; MIRN1-1; 609337 MICRO RNA 155; MIRN155; 609583 JOUBERT SYNDROME 4; JBTS4; 609704 MICRO RNA 16-1; MIRN16-1; 610188 JOUBERT SYNDROME 5; JBTS5; 610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M; 610688 JOUBERT SYNDROME 6; JBTS6; 611249 MICRO RNA LET7B; MIRNLET7B; 611276 GLAUCOMA 1, OPEN ANGLE, H; GLC1H; 611560 JOUBERT SYNDROME 7; JBTS7; 611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2; 612283 PROTEIN C; PROC; 612291 JOUBERT SYNDROME 8; JBTS8; 612316 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3A; ATAD3A; Clinical Synopsis for 608091 JOUBERT SYNDROME 2; JBTS2

September 24, 2008
New Entries:: 612314 GLUTATHIONE S-TRANSFERASE, OMEGA-2; GSTO2; 612315 KERATIN 6C; KRT6C
Changed Entries:: 100675 ACETAMINOPHEN METABOLISM; 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1; 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; 104260 ALPHA-2B-ADRENERGIC RECEPTOR; ADRA2B; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 106150 ANGIOTENSIN I; AGT; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 114105 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA; 114230 CALPAIN 2; CAPN2; 118503 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3; 118505 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 5; CHRNA5; 131195 ENDOGLIN; ENG; 132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1; 136130 FLAVIN-CONTAINING MONOOXYGENASE 1; FMO1; 136132 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3; 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1; 143095 HUMEROSPINAL DYSOSTOSIS; 147570 INTERFERON, GAMMA; IFNG; 148041 KERATIN 6A; KRT6A; 148042 KERATIN 6B; KRT6B; 158330 MULLERIAN APLASIA AND HYPERANDROGENISM; 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR; 162660 NEUROTROPHIN 3; NTF3; 165680 OSSICULAR MALFORMATIONS, FAMILIAL; 179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT; 190685 DOWN SYNDROME; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 204800 AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF; 208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD; 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY; 238320 HYPERGONADOTROPIC HYPOGONADISM; HHG; 243400 ACETYLATION, SLOW; 244400 KARTAGENER SYNDROME; 256000 LEIGH SYNDROME; LS; 260300 PARKINSONIAN-PYRAMIDAL SYNDROME; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 300037 GLYPICAN 3; GPC3; 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED; 300682 MICRO RNA 424; MIRN424; 300741 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER C; FAM120C; 300742 X ANTIGEN FAMILY, MEMBER 1A; XAGE1A; 300743 X ANTIGEN FAMILY, MEMBER 1B; XAGE1B; 300744 X ANTIGEN FAMILY, MEMBER 1C; XAGE1C; 300745 X ANTIGEN FAMILY, MEMBER 1E; XAGE1E; 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; 600135 CORTEXIN 1; CTXN1; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600443 GLUTAREDOXIN; GLRX; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600773 TAF12 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 600838 FORKHEAD BOX N1; FOXN1; 600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A; 601076 MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1; 601335 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4; 601369 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9; 601562 DYNEIN, LIGHT CHAIN, LC8 TYPE, 1; DYNLL1; 601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY; 602736 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT C,; 602917 REGULATOR OF CALCINEURIN 1; RCAN1; 602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB; 603196 COCHLIN; COCH; 603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3; 604007 REMOVED FROM DATABASE; 604356 DUANE RETRACTION SYNDROME 2; 604492 VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1; 604876 REGULATOR OF CALCINEURIN 2; RCAN2; 605482 GLUTATHIONE S-TRANSFERASE, OMEGA-1; GSTO1; 605583 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25; 605602 MYOZENIN 2; MYOZ2; 605758 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; ASB1; 605760 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 3; ASB3; 605860 RCAN FAMILY MEMBER 3; RCAN3; 605862 TRANSMEMBRANE PROTEIN 5; TMEM5; 605867 ATPase, CLASS I, TYPE 8B, MEMBER 2; ATP8B2; 605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9; 606255 STATURE AS A QUANTITATIVE TRAIT; 606823 G PROTEIN-COUPLED RECEPTOR 124; GPR124; 607204 PUMILIO, DROSOPHILA, HOMOLOG OF, 1; PUM1; 607557 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 607560 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARHGEF2; 607629 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, A; 608637 SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED; 608922 ADP-RIBOSYLATION FACTOR-LIKE 13B; ARL13B; 609313 ERYTHROKERATODERMIA VARIABILIS 3; 609593 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 16A; LRRC16A; 610348 FAMILY WITH SEQUENCE SIMILARITY 178, MEMBER A; FAM178A; 610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY; 611070 SMALL NUCLEOLAR RNA, C/D BOX, 83A; SNORD83A; 611071 SMALL NUCLEOLAR RNA, C/D BOX, 83B; SNORD83B; 611410 FAMILY WITH SEQUENCE SIMILARITY 65, MEMBER B; FAM65B; 612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2; 612182 N-ACETYLTRANSFERASE 2; NAT2; 612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC; 612233 LEUKODYSTROPHY, HYPOMYELINATING, AUTOSOMAL RECESSIVE; 612236 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 2; ERGIC2; 612238 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4; IS4; 612239 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5; IS5; 612244 INFLAMMATORY BOWEL DISEASE 13; IBD13; 612245 INFLAMMATORY BOWEL DISEASE 14; IBD14; 612246 CD302 ANTIGEN; CD302; 612253 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11; 612254 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12; 612260 MYD88 DEFICIENCY; MYD88D; 612269 EPILEPSY, CHILDHOOD ABSENCE, 5; ECA5; 612272 KARTAGENER SYNDROME 2; KTGS2; 612273 KARTAGENER SYNDROME 3; KTGS3; 612274 KARTAGENER SYNDROME 4; KTGS4; 612275 GAMETOGENETIN-BINDING PROTEIN 2; GGNBP2; 612279 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 6; 612281 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, ICHTHYIN-RELATED; 612282 ZINC FINGER PROTEIN 804A; ZNF804A; 612284 MECKEL SYNDROME, TYPE 6; MKS6; 612285 MENTAL RETARDATION AND RETINITIS PIGMENTOSA; 612287 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; 612288 INFLAMMATORY BOWEL DISEASE 20; IBD20; 612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE; 612291 JOUBERT SYNDROME 8; JBTS8; 612292 BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME; 612294 DEP DOMAIN-CONTAINING PROTEIN 7; DEPDC7; 612295 CHROMOSOME 11 OPEN READING FRAME 46; C11ORF46; 612296 LOC283267 GENE; 612297 CHROMOSOME 11 OPEN READING FRAME 41; C11ORF41; 612298 TRIPARTITE MOTIF-CONTAINING PROTEIN 44; TRIM44; 612299 COMM DOMAIN-CONTAINING PROTEIN 9; COMMD9; 612300 CD59 DEFICIENCY; 612301 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7; 612302 G PROTEIN-COUPLED RECEPTOR 123; GPR123; 612303 G PROTEIN-COUPLED RECEPTOR 125; GPR125; 612305 EMR4, MOUSE, HOMOLOG OF; EMR4; 612306 THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1; 612307 G PROTEIN-COUPLED RECEPTOR 128; GPR128; 612308 ZINC FINGER AND BTB DOMAIN-CONTAINING 4; ZBTB4; 612310 PREMATURE OVARIAN FAILURE 6; POF6; 612311 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5; 612312 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6; Clinical Synopsis for 601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY

September 23, 2008
New Entries:: 612310 PREMATURE OVARIAN FAILURE 6; POF6; 612311 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5; 612312 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6
Changed Entries:: 137920 RENAL CYSTS AND DIABETES SYNDROME; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 138391 REMOVED FROM DATABASE; 143095 HUMEROSPINAL DYSOSTOSIS; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 150330 LAMIN A/C; LMNA; 158330 MULLERIAN APLASIA AND HYPERANDROGENISM; 189907 HNF1 HOMEOBOX B; HNF1B; 191830 RENAL ADYSPLASIA; 238320 HYPERGONADOTROPIC HYPOGONADISM; HHG; 245600 LARSEN SYNDROME, RECESSIVE; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME; 311360 PREMATURE OVARIAN FAILURE 1; POF1; 600436 GLUTATHIONE S-TRANSFERASE, THETA-1; GSTT1; 600437 GLUTATHIONE S-TRANSFERASE, THETA-2; GSTT2; 600584 NK2 HOMEOBOX 5; NKX2-5; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 601076 MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC; 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2; 602321 GLUTATHIONE S-TRANSFERASE, KAPPA-1; GSTK1; 603102 CARBOXYPEPTIDASE D; CPD; 603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4; 603758 GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1; 603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO; 608367 MYOPIA 4; 608537 VHL GENE; VHL; 608637 SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE; 608697 FACTOR IN GERMLINE ALPHA, MOUSE, HOMOLOG OF; FIGLA; 611410 FAMILY WITH SEQUENCE SIMILARITY 65, MEMBER B; FAM65B; 611456 TREMOR, HEREDITARY ESSENTIAL, 3; ETM3; 611457 FORKHEAD BOX O6; 611872 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A1; FAM82A1; 611873 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A2; FAM82A2; 612239 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5; IS5; 612285 MENTAL RETARDATION AND RETINITIS PIGMENTOSA

September 22, 2008
Changed Entries:: 100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 1; ASCL1; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 138333 GLUTATHIONE S-TRANSFERASE, MU-4; GSTM4; 138360 GLUTATHIONE S-TRANSFERASE, ALPHA-2; GSTA2; 138380 GLUTATHIONE S-TRANSFERASE, MU-2; GSTM2; 138385 GLUTATHIONE S-TRANSFERASE, MU-5; GSTM5; 138390 GLUTATHIONE S-TRANSFERASE, MU-3; GSTM3; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 171720 ALKALINE PHOSPHATASE, ELEVATED SERUM; 210500 BILIARY ATRESIA, EXTRAHEPATIC; EHBA; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 602307 WW DOMAIN-CONTAINING PROTEIN 1; WWP1; 602308 WW DOMAIN-CONTAINING PROTEIN 2; WWP2; 603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6; 604007 REMOVED FROM DATABASE; 605449 GLUTATHIONE S-TRANSFERASE, ALPHA-3; GSTA3; 605450 GLUTATHIONE S-TRANSFERASE, ALPHA-4; GSTA4; 605862 TRANSMEMBRANE PROTEIN 5; TMEM5; 607605 GLUTATHIONE S-TRANSFERASE, ALPHA-5; GSTA5; 608330 PSO4, S. CEREVISIAE, HOMOLOG OF; 609834 SET AND MARINER TRANSPOSASE DOMAINS-CONTAINING PROTEIN; SETMAR

September 19, 2008
New Entries:: 612305 EMR4, MOUSE, HOMOLOG OF; EMR4; 612306 THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1; 612307 G PROTEIN-COUPLED RECEPTOR 128; GPR128; 612308 ZINC FINGER AND BTB DOMAIN-CONTAINING 4; ZBTB4
Changed Entries:: 100300 ADAMS-OLIVER SYNDROME; AOS; 114400 MOVED TO 120435; 114480 BREAST CANCER; 114500 COLORECTAL CANCER; CRC; 122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6; 137170 GAMMA-GLUTAMYL CYCLOTRANSFERASE; GGCT; 147700 ISOCITRATE DEHYDROGENASE 1; IDH1; 152425 ACYL-CoA SYNTHETASE LONG-CHAIN FAMILY MEMBER 1; ACSL1; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 171700 REMOVED FROM DATABASE; 180901 RYANODINE RECEPTOR 1; RYR1; 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1; 191830 RENAL ADYSPLASIA; 193000 VESICOURETERAL REFLUX 1; VUR1; 255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA; 300157 ACYL-CoA SYNTHETASE LONG-CHAIN FAMILY MEMBER 4; ACSL4; 300269 HISTONE DEACETYLASE 8; HDAC8; 300329 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 33; ZBTB33; 600135 CORTEXIN 1; CTXN1; 600136 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 9; MAP3K9; 600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS; 600274 FRONTOTEMPORAL DEMENTIA; FTD; 602371 ACYL-CoA SYNTHETASE LONG-CHAIN FAMILY MEMBER 3; ACSL3; 603273 TUMOR PROTEIN p63; TP63; 603390 PHOSPHODIESTERASE 8B; PDE8B; 603495 AURORA KINASE C; AURKC; 604443 ACYL-CoA SYNTHETASE LONG-CHAIN FAMILY MEMBER 6; ACSL6; 604970 AURORA KINASE B; AURKB; 605482 GLUTATHIONE S-TRANSFERASE, OMEGA-1; 605677 ACYL-CoA SYNTHETASE LONG-CHAIN FAMILY MEMBER 5; ACSL5; 605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9; 605917 CHROMOSOME 20 OPEN READING FRAME 1; C20ORF1; 606823 G PROTEIN-COUPLED RECEPTOR 124; GPR124; 608592 CTD SMALL PHOSPHATASE-LIKE; CTDSPL; 608645 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 31; DFNA31; 608684 NINEIN; NIN; 608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A; 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; 609593 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 16A; LRRC16A; 609895 CASTOR ZINC FINGER PROTEIN 1; CASZ1; 610348 FAMILY WITH SEQUENCE SIMILARITY 178, MEMBER A; FAM178A; 612218 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38; 612292 BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME; 612305 EMR4, MOUSE, HOMOLOG OF; EMR4; Clinical Synopsis for 114400 MOVED TO 120435

September 18, 2008
New Entries:: 612301 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7; 612302 G PROTEIN-COUPLED RECEPTOR 123; GPR123; 612303 G PROTEIN-COUPLED RECEPTOR 125; GPR125
Changed Entries:: 106210 ANIRIDIA, TYPE II; AN2; 134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1; 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1; 138359 GLUTATHIONE S-TRANSFERASE, ALPHA-1; GSTA1; 147183 RECOMBINATION SIGNAL-BINDING PROTEIN FOR IMMUNOGLOBULIN KAPPA J REGION;; 147650 ISOCITRATE DEHYDROGENASE 2; IDH2; 147700 ISOCITRATE DEHYDROGENASE 1; IDH1; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 200990 ACROCALLOSAL SYNDROME; ACLS; 230800 GAUCHER DISEASE, TYPE I; 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1; 266255 RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION; 600000 SPONDYLOCAMPTODACTYLY; 600006 REGULATORY FACTOR X, 1; RFX1; 600367 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 3, 77-KD; CSTF3; 600841 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-1-LIKE 14; EEF1A1L14; 601149 ISOCITRATE DEHYDROGENASE 3, ALPHA SUBUNIT; IDH3A; 601756 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; 603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A; 604019 HIV-1 REV-BINDING PROTEIN-LIKE; HRBL; 606463 GLUCOSIDASE, BETA, ACID; GBA; 606810 PROLINE DEHYDROGENASE; PRODH; 606823 G PROTEIN-COUPLED RECEPTOR 124; GPR124; 607108 PAIRED BOX GENE 6; PAX6; 608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX; 609089 F-BOX ONLY PROTEIN 3; FBXO3; 609221 N-ACETYLTRANSFERASE 10; NAT10; 609641 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M; 611690 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 4; PRRG4; 612301 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7; Clinical Synopsis for 600841 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-1-LIKE 14; EEF1A1L14

September 17, 2008
New Entries:: 612286 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; 612287 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; 612294 DEP DOMAIN-CONTAINING PROTEIN 7; DEPDC7; 612295 CHROMOSOME 11 OPEN READING FRAME 46; C11ORF46; 612296 LOC283267 GENE; 612297 CHROMOSOME 11 OPEN READING FRAME 41; C11ORF41; 612298 TRIPARTITE MOTIF-CONTAINING PROTEIN 44; TRIM44; 612299 COMM DOMAIN-CONTAINING PROTEIN 9; COMMD9; 612300 CD59 DEFICIENCY
Changed Entries:: 107271 CD59 ANTIGEN; CD59; 114835 CARBOXYLESTERASE 1; CES1; 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 139250 GROWTH HORMONE 1; GH1; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 146300 HYPOPHOSPHATASIA, ADULT; 164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2; 168450 PARATHYROID HORMONE; PTH; 171760 ALKALINE PHOSPHATASE, LIVER; ALPL; 180385 LIM DOMAIN ONLY 2; LMO2; 182309 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 208900 ATAXIA-TELANGIECTASIA; AT; 241500 HYPOPHOSPHATASIA, INFANTILE; 241510 HYPOPHOSPHATASIA, CHILDHOOD; 516006 COMPLEX I, SUBUNIT ND6; MTND6; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4; 604990 SOLUTE CARRIER FAMILY 9, ISOFORM A3, REGULATORY FACTOR 1; SLC9A3R1; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608817 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 4C; LRRC4C; 609861 I-KAPPA-B KINASE-INTERACTING PROTEIN; 610104 MICRO RNA 125B1; MIRN125B1; 610105 MICRO RNA 125B2; MIRN125B2; 610253 CHROMOSOME 9q34.3 DELETION SYNDROME; 612298 TRIPARTITE MOTIF-CONTAINING PROTEIN 44; TRIM44

September 16, 2008
New Entries:: 612284 MECKEL SYNDROME, TYPE 6; MKS6; 612292 BIRK BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME
Changed Entries:: 112265 BONE MORPHOGENETIC PROTEIN 5; BMP5; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1; 176795 PRO-MELANIN-CONCENTRATING HORMONE; PMCH; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 256000 LEIGH SYNDROME; LS; 257350 NUCHAL BLEB, FAMILIAL; 260300 PARKINSONIAN-PYRAMIDAL SYNDROME; 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1; 602137 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2; 605195 MESODERM POSTERIOR 2; MESP2; 605648 F-BOX ONLY PROTEIN 7; FBXO7; 605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9; 605968 RET FINGER PROTEIN-LIKE 1; RFPL1; 605969 RET FINGER PROTEIN-LIKE 2; RFPL2; 605970 RET FINGER PROTEIN-LIKE 3; RFPL3; 607280 CONTACTIN 4; CNTN4; 608681 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2; 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; 612013 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A

September 15, 2008
New Entries:: 612289 PROGEROID SYNDROME, CONGENITAL, PETTY TYPE; 612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE; 612291 JOUBERT SYNDROME 8; JBTS8
Changed Entries:: 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 124089 CYTOCHROME c OXIDASE, SUBUNIT VIb, POLYPEPTIDE 1; COX6B1; 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3; 143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2; 146740 Fc FRAGMENT OF IgG, LOW AFFINITY IIIa, RECEPTOR FOR; FCGR3A; 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL; 167030 NEPHROLITHIASIS, CALCIUM OXALATE; 187930 COAGULATION FACTOR II RECEPTOR; F2R; 191700 UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT; 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY; 220150 HYPOURICEMIA, RENAL; 300009 DENT DISEASE 1; 300392 WAS GENE; WAS; 310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN; 600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1; 600933 COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1; 601033 LAMININ, ALPHA-5; LAMA5; 602430 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 1; ROBO1; 603735 AMINE OXIDASE, COPPER-CONTAINING, 3; AOC3; 604627 INTERLEUKIN 17B; IL17B; 604628 INTERLEUKIN 17C; IL17C; 604685 HOMEOBOX A2; HOXA2; 605990 NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO; 606747 VASCULAR ENDOTHELIAL ZINC FINGER 1; VEZF1; 608922 ARL2-LIKE PROTEIN 1; ARL2L1; 612269 EPILEPSY, CHILDHOOD ABSENCE, 5; ECA5; 612289 PROGEROID SYNDROME, CONGENITAL, PETTY TYPE

September 12, 2008
New Entries:: 612283 PROTEIN C; PROC; 612285 MENTAL RETARDATION AND RETINITIS PIGMENTOSA; 612288 INFLAMMATORY BOWEL DISEASE 20; IBD20; Clinical Synopsis for 609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,
Changed Entries:: 108800 ATRIAL SEPTAL DEFECT 1; ASD1; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 115150 CARDIOFACIOCUTANEOUS SYNDROME; 118423 CHIMERIN 1; CHN1; 120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 126800 DUANE RETRACTION SYNDROME 1; DURS1; 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1; 135900 COFFIN-SIRIS SYNDROME; 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS; 139605 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 1; HES1; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 159990 MYOGENIC FACTOR 5; MYF5; 162640 NEUROPEPTIDE Y; NPY; 176860 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY; 176883 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6; 176895 PROTEIN Z; PROZ; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 188050 THROMBOPHILIA; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A; 218040 COSTELLO SYNDROME; 235730 MOWAT-WILSON SYNDROME; 241500 HYPOPHOSPHATASIA, INFANTILE; 264090 PROGEROID SYNDROME, NEONATAL; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 267750 KNOBLOCH SYNDROME, TYPE I; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 306700 HEMOPHILIA A; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 312750 RETT SYNDROME; RTT; 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D; 601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1; 601693 UNCOUPLING PROTEIN 2; UCP2; 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP; 602461 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, SUBSTRATE 1; PTPNS1; 602490 NUCLEAR RECEPTOR-INTERACTING PROTEIN 1; NRIP1; 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5; 604356 DUANE RETRACTION SYNDROME 2; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 605353 GHRELIN; GHRL; 605402 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1; 605557 PR DOMAIN-CONTAINING PROTEIN 16; PRDM16; 605659 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER D; CLEC2D; 606062 STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3; 607358 AUTOIMMUNE REGULATOR; AIRE; 608212 IMMUNITY-RELATED GTPase FAMILY, M; IRGM; 608750 ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3; 608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY; 609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,; 609509 INTERLEUKIN 31; IL31; 609674 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 1; ESCO1; 612013 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A; 612087 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER A; CLEC2A; 612283 PROTEIN C; PROC

September 11, 2008
Changed Entries:: 137070 FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA; FUS; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1; 151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR; 168461 CYCLIN D1; CCND1; 180630 DEAD/H BOX 5; DDX5; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY; 300127 OLIGOPHRENIN 1; OPHN1; 301500 FABRY DISEASE; 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3; 600140 CREB-BINDING PROTEIN; CREBBP; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4; 601346 DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,; 601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2; 601458 INFLAMMATORY BOWEL DISEASE 2; IBD2; 601559 STUVE-WIEDEMANN SYNDROME; 601595 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 1; SMAD1; 601841 PROTEIN C INHIBITOR; PCI; 601987 CARNITINE PALMITOYLTRANSFERASE I, MUSCLE; CPT1B; 602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 603110 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 5; SMAD5; 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3; 604613 T-BOX 18; TBX18; 604990 SOLUTE CARRIER FAMILY 9, ISOFORM A3, REGULATORY FACTOR 1; SLC9A3R1; 607102 WT1 GENE; WT1; 608610 PROGRAMMED CELL DEATH 4; PDCD4; 608828 RIBONUCLEASE III, NUCLEAR; RNASEN; 609751 ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1; 611020 MICRO RNA 21; MIRN21; Clinical Synopsis for 602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC

September 10, 2008
New Entries:: 612272 KARTAGENER SYNDROME 2; KTGS2; 612273 KARTAGENER SYNDROME 3; KTGS3; 612274 KARTAGENER SYNDROME 4; KTGS4; 612279 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 6; 612280 FUCOSIDASE, ALPHA-L, 1; FUCA1; 612281 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, ICHTHYIN-RELATED; 612282 ZINC FINGER PROTEIN 804A; ZNF804A
Changed Entries:: 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING; 106100 ANGIOEDEMA, HEREDITARY; HAE; 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE; 114480 BREAST CANCER; 125220 DEFENSIN, ALPHA, 1; DEFA1; 136820 FUCOSIDASE, ALPHA-L, 2; FUCA2; 140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1; 148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC; 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; 153330 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 1; LAMP1; 154700 MARFAN SYNDROME; MFS; 162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ; 167030 NEPHROLITHIASIS, CALCIUM OXALATE; 171760 ALKALINE PHOSPHATASE, LIVER; ALPL; 192340 ARGININE VASOPRESSIN; AVP; 230000 FUCOSIDOSIS; 244400 KARTAGENER SYNDROME; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 256550 NEURAMINIDASE DEFICIENCY; 260920 HYPER-IgD SYNDROME; HIDS; 261600 PHENYLKETONURIA; 263400 ERYTHROCYTOSIS, FAMILIAL, 2; 300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F; 300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3; 600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8; 600471 DEFENSIN, ALPHA, 6; DEFA6; 600472 DEFENSIN, ALPHA, 5; DEFA5; 600666 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3; 600702 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A; 600946 GROWTH HORMONE RECEPTOR; GHR; 601613 CHEMOKINE, CXC MOTIF, RECEPTOR 5; CXCR5; 601665 OBESITY; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 602056 DEFENSIN, BETA, 1; DEFB1; 602322 TELOMERASE RNA COMPONENT; TERC; 602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB; 603122 DEDICATOR OF CYTOKINESIS 2; DOCK2; 603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5; 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11; 603731 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 8; CNOT8; 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+; 604366 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1; 604479 SIRTUIN 1; SIRT1; 604738 CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9; 604909 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 2; CNOT2; 604910 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 3; CNOT3; 604911 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 4; CNOT4; 604913 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 7; CNOT7; 604917 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 1; CNOT1; 605240 CHEMOKINE, CC MOTIF, LIGAND 28; CCL28; 605447 G8 PROTEIN; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 605647 F-BOX ONLY PROTEIN 6; FBXO6; 605649 F-BOX ONLY PROTEIN 8; FBXO8; 605741 EPSTEIN-BARR VIRUS-INDUCED GENE 2; EBI2; 606013 F-BOX ONLY PROTEIN 5; FBXO5; 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7; 606604 F-BOX ONLY PROTEIN 32; FBXO32; 607003 THYMIC STROMAL LYMPHOPOIETIN; TSLP; 607112 F-BOX ONLY PROTEIN 2; FBXO2; 607222 F-BOX ONLY PROTEIN 18; FBXO18; 607837 CLN8 GENE; CLN8; 607871 F-BOX ONLY PROTEIN 11; FBXO11; 608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD; 608272 NEURAMINIDASE 1; NEU1; 608468 CARBON CATABOLITE REPRESSION 4-LIKE; CCRN4L; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608533 F-BOX ONLY PROTEIN 38; FBXO38; 608537 VHL GENE; VHL; 608644 CILIARY DYSKINESIA, PRIMARY, 3; 608660 INSULIN-INDUCED GENE 2; INSIG2; 608951 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 6; CNOT6; 609073 F-BOX AND WD40 DOMAIN PROTEIN 8; FBXW8; 609075 F-BOX AND WD40 DOMAIN PROTEIN 12; FBXW12; 609083 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 17; FBXL17; 609089 F-BOX ONLY PROTEIN 3; FBXO3; 609090 F-BOX ONLY PROTEIN 4; FBXO4; 609091 F-BOX ONLY PROTEIN 9; FBXO9; 609092 F-BOX ONLY PROTEIN 10; FBXO10; 609093 F-BOX ONLY PROTEIN 15; FBXO15; 609094 F-BOX ONLY PROTEIN 17; FBXO17; 609095 F-BOX ONLY PROTEIN 21; FBXO21; 609096 F-BOX ONLY PROTEIN 22; FBXO22; 609097 F-BOX ONLY PROTEIN 24; FBXO24; 609098 F-BOX ONLY PROTEIN 25; FBXO25; 609099 F-BOX ONLY PROTEIN 27; FBXO27; 609100 F-BOX ONLY PROTEIN 28; FBXO28; 609101 F-BOX ONLY PROTEIN 30; FBXO30; 609103 F-BOX ONLY PROTEIN 33; FBXO33; 609104 F-BOX ONLY PROTEIN 34; FBXO34; 609105 F-BOX ONLY PROTEIN 36; FBXO36; 609106 F-BOX ONLY PROTEIN 39; FBXO39; 609107 F-BOX ONLY PROTEIN 40; FBXO40; 609108 F-BOX ONLY PROTEIN 41; FBXO41; 609109 F-BOX ONLY PROTEIN 42; FBXO42; 609110 F-BOX ONLY PROTEIN 43; FBXO43; 609111 F-BOX ONLY PROTEIN 44; FBXO44; 609112 F-BOX ONLY PROTEIN 45; FBXO45; 609117 F-BOX ONLY PROTEIN 46; FBXO46; 609383 ICHTHYIN; 609594 VENTRICULAR ZONE-EXPRESSED PH DOMAIN-CONTAINING PROTEIN, ZEBRAFISH,; 610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT; 610076 CELL CYCLE-RELATED KINASE; CCRK; 610369 HEAT-SHOCK 70-KD PROTEIN 14; HSPA14; 611251 PATCHED DOMAIN-CONTAINING PROTEIN 2; PTCHD2; 611456 TREMOR, HEREDITARY ESSENTIAL, 3; ETM3; 611519 POLYMERASE DELTA-INTERACTING PROTEIN 2; POLDIP2; 611884 CILIARY DYSKINESIA, PRIMARY, 7; 612241 INFLAMMATORY BOWEL DISEASE 12; IBD12; Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE; Clinical Synopsis for 225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5; Clinical Synopsis for 275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4; Clinical Synopsis for 601559 STUVE-WIEDEMANN SYNDROME

September 9, 2008
New Entries:: 612277 ADAMTS-LIKE PROTEIN 2; ADAMTSL2; 612278 INFLAMMATORY BOWEL DISEASE 19; IBD19
Changed Entries:: 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 129490 ECTODERMAL DYSPLASIA 3; ED3; 133200 ERYTHROKERATODERMIA VARIABILIS; EKV; 136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD; 137357 MOVED TO 194072; 140571 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 1; HSP90AA1; 140572 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS B, MEMBER 1; HSP90AB1; 140574 MOVED TO 140571; 140575 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 2; HSP90AA2; 145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH; 152445 LORICRIN; LOR; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 191175 HEAT-SHOCK PROTEIN, 90-KD, BETA, 1; HSP90B1; 194072 WAGR SYNDROME; 224900 ECTODERMAL DYSPLASIA, ANHIDROTIC; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4; 300288 P ANTIGEN FAMILY, MEMBER 1; PAGE1; 300738 P ANTIGEN FAMILY, MEMBER 2; PAGE2; 300739 P ANTIGEN FAMILY, MEMBER 3; PAGE3; 300740 X ANTIGEN FAMILY, MEMBER 3; XAGE3; 305100 ECTODERMAL DYSPLASIA 1; ED1; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600850 SCHIZOPHRENIA 4; SCZD4; 601033 LAMININ, ALPHA-5; LAMA5; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1; 601613 CHEMOKINE, CXC MOTIF, RECEPTOR 5; CXCR5; 602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604095 ECTODYSPLASIN A RECEPTOR; EDAR; 604591 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 1; PEBP1; 604917 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 1; CNOT1; 605606 PSORIASIS SUSCEPTIBILITY 7; 606219 TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; TRAP1; 606747 VASCULAR ENDOTHELIAL ZINC FINGER 1; VEZF1; 606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1; 607003 THYMIC STROMAL LYMPHOPOIETIN; TSLP; 608212 IMMUNITY-RELATED GTPase FAMILY, M; IRGM; 608853 BH3-LIKE MOTIF-CONTAINING CELL DEATH INDUCER; BLID; 609073 F-BOX AND WD40 DOMAIN PROTEIN 8; FBXW8; 609313 ERYTHROKERATODERMIA VARIABILIS 3; 609448 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 12; TXNDC12; 609482 ANTERIOR GRADIENT 3, XENOPUS, HOMOLOG OF; AGR3; 609483 FAMILY WITH SEQUENCE SIMILARITY 84, MEMBER B; FAM84B; 609946 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 47; 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7; 610635 COLLAGEN TRIPLE-HELIX REPEAT-CONTAINING PROTEIN 1; CTHRC1; 611180 COFACTOR OF BRCA1; COBRA1; 611234 FAMILY WITH SEQUENCE SIMILARITY 84, MEMBER A; FAM84A; 612192 ZINC FINGER PROTEIN 57; ZNF57; 612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IX; MODY9; 612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13; 612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14; 612234 CALCIUM HOMEOSTASIS MODULATOR 1; CALHM1; 612235 CALCIUM HOMEOSTASIS MODULATOR 2; CALHM2; 612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7; 612243 G PROTEIN-COUPLED RECEPTOR 126; GPR126; Clinical Synopsis for 209850 AUTISM; Clinical Synopsis for 300425 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1; Clinical Synopsis for 300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; Clinical Synopsis for 300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2; Clinical Synopsis for 300496 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3; Clinical Synopsis for 300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; Clinical Synopsis for 601559 STUVE-WIEDEMANN SYNDROME; Clinical Synopsis for 607373 AUTISM, SUSCEPTIBILITY TO, 8; AUTS8; Clinical Synopsis for 608049 AUTISM, SUSCEPTIBILITY TO, 3; Clinical Synopsis for 608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2; Clinical Synopsis for 608636 AUTISM, SUSCEPTIBILITY TO, 4; AUTS4; Clinical Synopsis for 608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1

September 8, 2008
New Entries:: 612275 GAMETOGENETIN-BINDING PROTEIN 2; GGNBP2; 612276 YRDC DOMAIN-CONTAINING PROTEIN; YRDC
Changed Entries:: 114480 BREAST CANCER; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 125860 NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1; 188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR; 224050 CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL; 243910 ARIMA SYNDROME; 260350 PANCREATIC CARCINOMA; 275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4; 308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; 556500 PARKINSON DISEASE, MITOCHONDRIAL; 600048 BREAST CANCER, 11-22 TRANSLOCATION-ASSOCIATED; 601484 SELENOPROTEIN P, PLASMA, 1; SEPP1; 602041 NK3 HOMEOBOX 1; NKX3-1; 602194 HTRA SERINE PEPTIDASE 1; HTRA1; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5; 609495 GAMETOGENETIN-BINDING PROTEIN 1; GGNBP1; 610185 CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL; 610772 NK6 HOMEOBOX 3; NKX6-3; 611313 LOC387715 GENE; 612255 INFLAMMATORY BOWEL DISEASE 15; IBD15; 612262 INFLAMMATORY BOWEL DISEASE 18; IBD18; 612275 GAMETOGENETIN-BINDING PROTEIN 2; GGNBP2

September 5, 2008
Changed Entries:: 115501 TYROSINASE-RELATED PROTEIN 1; TYRP1; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB; 218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2; 225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5; 239510 HYPERPROLINEMIA, TYPE II; HPII; 275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1; 600584 NK2 HOMEOBOX 5; NKX2-5; 606810 PROLINE DEHYDROGENASE; PRODH; 609893 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3; 612267 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10; 612269 EPILEPSY, CHILDHOOD ABSENCE, 5; ECA5; Clinical Synopsis for 225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5; Clinical Synopsis for 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

September 4, 2008
New Entries:: 612247 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN; 612265 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER A; FAM120A; 612266 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER B; FAM120B; 612267 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10; 612268 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 5; TTLL5; 612269 EPILEPSY, CHILDHOOD ABSENCE, 5; ECA5; 612270 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 4; CDCA4; 612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11
Changed Entries:: 113970 BURKITT LYMPHOMA; BL; 115501 TYROSINASE-RELATED PROTEIN 1; TYRP1; 123500 CROUZON SYNDROME; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 147640 INTERFERON, BETA-1; IFNB1; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1; 300564 TSPY-LIKE 2; TSPYL2; 300594 G ANTIGEN 1; GAGE1; 300595 G ANTIGEN 2C; GAGE2C; 300637 G ANTIGEN 12I; GAGE12I; 300720 G ANTIGEN 2A; GAGE2A; 300726 G ANTIGEN 2B; GAGE2B; 300727 G ANTIGEN 12C; GAGE12C; 300728 G ANTIGEN 12D; GAGE12D; 300729 G ANTIGEN 12E; GAGE12E; 300730 G ANTIGEN 12F; GAGE12F; 300731 G ANTIGEN 12G; GAGE12G; 300732 G ANTIGEN 12H; GAGE12H; 300733 G ANTIGEN 12J; GAGE12J; 300734 G ANTIGEN 13; GAGE13; 300735 G ANTIGEN 2D; GAGE2D; 300736 G ANTIGEN 2E; GAGE2E; 300737 G ANTIGEN 10; GAGE10; 300741 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER C; FAM120C; 600201 AGOUTI SIGNALING PROTEIN; ASIP; 600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3; 601367 STROKE, ISCHEMIC; 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2; 606933 TYROSINASE; TYR; 607697 SET-BINDING FACTOR 2; SBF2; 608510 SH2 DOMAIN-CONTAINING 1B; SH2D1B; 610849 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 6; TTLL6; 611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9; 612163 TWO-PORE SEGMENT CHANNEL 2; TPCN2; 612205 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, B; ATG9B; 612207 GOLGI PHOSPHOPROTEIN 3; GOLPH3; 612208 GOLGI PHOSPHOPROTEIN 3-LIKE; GOLPH3L; 612210 HIGHLY UPREGULATED IN LIVER CANCER; HULC; 612211 TUMOR SUPPRESSOR CANDIDATE 5; TUSC5; 612212 PLASMINOGEN-LIKE A; PLGLA; 612213 BOVINE SEMINAL PLASMA PROTEIN-LIKE 1; 612214 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 4; RGL4; 612215 SMALL NUCLEOLAR RNA HOST GENE 6; SNHG6; 612216 SMALL NUCLEOLAR RNA, C/D BOX, 87; SNORD87; 612217 CHROMOSOME 6 OPEN READING FRAME 106; C6ORF106; 612218 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38; 612219 EWING SARCOMA; ES; 612220 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 3; B4GALNT3; 612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10; 612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11; 612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12; 612237 CHONDROSARCOMA, EXTRASKELETAL MYXOID; 612247 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN; 612263 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7; 612265 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER A; FAM120A

September 3, 2008
New Entries:: 612261 INFLAMMATORY BOWEL DISEASE 17; IBD17; 612262 INFLAMMATORY BOWEL DISEASE 18; IBD18; 612263 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CCM7; 612264 MANNOSE RECEPTOR, C-TYPE, 2; MRC2
Changed Entries:: 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 155601 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2; 191175 HEAT-SHOCK PROTEIN, 90-KD, BETA, 1; HSP90B1; 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR; 224050 CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION, VLDLR-ASSOCIATED; VLDLRCH; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 252300 MORQUIO SYNDROME C; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 300743 X ANTIGEN FAMILY, MEMBER 1B; XAGE1B; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V; 600675 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; XRCC3; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4; 603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4; 604453 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2; NR5A2; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 604843 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1; 605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA; 606438 HUNTINGTON DISEASE-LIKE 2; HDL2; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 608035 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4; CMM4; 608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA;; 609048 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3; 611577 JUMONJI DOMAIN-CONTAINING PROTEIN 3; JMJD3; 611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9; 612262 INFLAMMATORY BOWEL DISEASE 18; IBD18

September 2, 2008
Changed Entries:: 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP; 160900 DYSTROPHIA MYOTONICA 1; 203450 ALEXANDER DISEASE; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 249700 LANGER MESOMELIC DYSPLASIA; 300307 T-BOX 22; TBX22; 303400 CLEFT PALATE, X-LINKED; CPX; 312865 SHORT STATURE HOMEOBOX; SHOX; 600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5; 601693 UNCOUPLING PROTEIN 2; UCP2; 602044 UNCOUPLING PROTEIN 3; UCP3; 602098 POLO-LIKE KINASE 1; PLK1; 608798 DFNA5 GENE; DFNA5; 609883 MKS1 GENE; MKS1; 612205 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, B; ATG9B

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OMIM Update List for September, 2008

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