PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for January, 2003

January 30, 2003

New Entries:

607523 TOENAIL DYSTROPHY, ISOLATED

607524 HZFW GENE

607525 ZINC RIBBON DOMAIN-CONTAINING PROTEIN 1; ZNRD1

607526 RIBOSOMAL PROTEIN L27; RPL27

607527 REGULATOR OF DIFFERENTIATION 1; ROD1

607528 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 4; ROBO4

607529 SERYL-tRNA SYNTHETASE; SARS

607530 HOMEO BOX A11, ANTISENSE

607531 KRUPPEL-LIKE FACTOR 12; KLF12

607532 PROGESTERONE-INDUCED BLOCKING FACTOR 1

607533 DIS3, S. POMBE, HOMOLOG OF

Changed Entries:

107580 TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A

107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19

114840 CARBOXYL-ESTER LIPASE; CEL

114841 MOVED TO 114840

116952 CELL DIVISION CYCLE 42; CDC42

120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1

120330 PAPILLORENAL SYNDROME

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP

138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPD

141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; MHP1

145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1

148840 KLEINE-LEVIN HIBERNATION SYNDROME

162091 SCHWANNOMATOSIS

162200 NEUROFIBROMATOSIS, TYPE I; NF1

167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1

170261 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176982 PROTEIN KINASE C, ZETA FORM; PRKCZ

182309 SOLUTE CARRIER FAMILY 34, MEMBER 1; SLC34A1

182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2

186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES

191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8

203450 ALEXANDER DISEASE

208900 ATAXIA-TELANGIECTASIA; AT

213700 CEREBROTENDINOUS XANTHOMATOSIS

231670 GLUTARICACIDEMIA I

241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

253220 MUCOPOLYSACCHARIDOSIS TYPE VII

254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

272800 TAY-SACHS DISEASE; TSD

300205 EMOPAMIL-BINDING PROTEIN; EBP

300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

600039 BCL2-LIKE 1; BCL2L1

600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12

600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1

601600 ETS VARIANT GENE 5; ETV5

601652 MYOCILIN; MYOC

602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; MHP2

602630 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR; TGIF

602902 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 1; BTEB1

603046 TRANSLOCATION IN RENAL CARCINOMA ON CHROMOSOME 8

603259 MOVED TO 191195

603273 TUMOR PROTEIN p73-LIKE; TP73L

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

604362 LIM DOMAIN ONLY 7; LMO7

604571 BARE LYMPHOCYTE SYNDROME, TYPE I

604702 HIGH MOBILITY GROUP PROTEIN 2-LIKE 1; HMG2L1

604703 MOVED TO 604702

605565 RESISTIN

605680 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1A; BAZ1A

605802 ZINC FINGER HOMEO BOX 1B; ZFHX1B

606416 CIAS1 GENE; CIAS1

606594 SET DOMAIN-CONTAINING PROTEIN 7

607174 MENINGIOMA, FAMILIAL

607379 NEUROFIBROMIN 2; NF2

607439 PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2

607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A

607523 TOENAIL DYSTROPHY, ISOLATED

Clinical Synopsis for 203300 HERMANSKY-PUDLAK SYNDROME; HPS

January 28, 2003

New Entries:

607379 NEUROFIBROMIN 2; NF2

607520 ZYGOTE ARREST 1

607521 HERMANSKY-PUDLAK SYNDROME GENE 5; HPS5

607522 HERMANSKY-PUDLAK SYNDROME GENE 6

Clinical Synopsis for 605820 NONAKA MYOPATHY; NM

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2

109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1

118200 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B; CMT1B

123620 CRYSTALLIN, BETA-B2; CRYBB2

123900 VILLIN 2; VIL2

156240 MESOTHELIOMA, MALIGNANT

162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A

162270 NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4

182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2

191092 TUBEROUS SCLEROSIS 2 GENE; TSC2

191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B

201810 ADRENAL HYPERPLASIA II

203300 HERMANSKY-PUDLAK SYNDROME; HPS

309845 MOESIN; MSN

600157 ADAPTOR-RELATED PROTEIN COMPLEX 1, BETA-1 SUBUNIT; AP1B1

600418 AMPHIPHYSIN; AMPH

601248 BRIDGING INTEGRATOR 1; BIN1

601329 LIM DOMAIN KINASE 1; LIMK1

602229 SRY-BOX 10; SOX10

602505 PAXILLIN; PXN

602689 FASCIN, SEA URCHIN, HOMOLOG OF, 1; FSCN1

603249 4-@NITROPHENYLPHOSPHATASE DOMAIN AND NONNEURONAL SNAP25-LIKE 1; NIPSNAP1

603504 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A; CDC14A

603505 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG B; CDC14B

603825 HYPERMETHYLATED IN CANCER; HIC1

604375 HUMAN GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HGS

604990 SOLUTE CARRIER FAMILY 9, ISOFORM A3, REGULATORY FACTOR 1; SLC9A3R1

605284 TUBEROUS SCLEROSIS 1 GENE; TSC1

605331 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 3; EPB41L3

607174 MENINGIOMA, FAMILIAL

607521 HERMANSKY-PUDLAK SYNDROME GENE 5; HPS5

Clinical Synopsis for 600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2

January 27, 2003

New Entries:

607517 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 4

607518 MONOCYTE AND PLASMACYTOID ACTIVATED MOLECULE

607519 ADP-RIBOSYLTRANSFERASE-LIKE 1; ADPRTL1

Changed Entries:

123910 GRANZYME B; GZMB

162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP

176300 TRANSTHYRETIN; TTR

208150 PENA-SHOKEIR SYNDROME, TYPE I

214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A

250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

300125 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO

300222 INTEGRAL MEMBRANE PROTEIN 2A; ITM2A

302800 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1

600600 EPHRIN RECEPTOR EphB1; EPHB1

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

607498 MIGRAINE, FAMILIAL, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO

607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO

January 24, 2003

New Entries:

300422 FG SYNDROME 4

607139 FANCONI ANEMIA COMPLEMENTATION GROUP A GENE; FANCA

607462 DRPLA GENE; DRPLA

607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO

607506 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO

607509 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

607510 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

607511 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

607512 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

607513 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

607514 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10q

607515 PLACENTA-SPECIFIC GENE 8; PLAC8

Changed Entries:

113705 BREAST CANCER, TYPE 1; BRCA1

123740 CRYSTALLIN, MU; CRYM

125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD

138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;

138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPD

140340 HAW RIVER SYNDROME

142445 NEUREGULIN 1; NRG1

142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT

143100 HUNTINGTON DISEASE; HD

147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI

147421 INCLUSION BODY MYOSITIS

155541 MELANOCORTIN 4 RECEPTOR; MC4R

203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2

210600 SECKEL SYNDROME

227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

260400 SHWACHMAN-DIAMOND SYNDROME; SDS

263800 GITELMAN SYNDROME

300125 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO

300126 DYSKERIN; DKC1

305450 FG SYNDROME; FGS1

311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA

600549 IK CYTOKINE, DOWNREGULATOR OF HLA II; IK

600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2

600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL

601400 SQUAMOUS CELL CARCINOMA, HEAD AND NECK

601663 ESTROGEN RECEPTOR 2; ESR2

601665 OBESITY

602025 OBESITY QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20

602308 WW DOMAIN-CONTAINING PROTEIN 2

602625 BAI1-ASSOCIATED PROTEIN 1; BAIAP1

602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9

603188 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10p; OB10P

603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

603516 SPINOCEREBELLAR ATAXIA 10; SCA10

603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE

604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1

604326 SPINOCEREBELLAR ATAXIA 12; SCA12

605226 RE REPEATS-ENCODING GENE; RERE

605353 GHRELIN

605475 BAI1-ASSOCIATED PROTEIN 2; BAIAP2

605820 NONAKA MYOPATHY; NM

605859 FANCONI ANEMIA ZINC FINGER PROTEIN

605937 SORTING NEXIN 5; SNX5

606382 ATROPHIN 1-INTERACTING PROTEIN 1

606409 ITCHY, MOUSE, HOMOLOG OF; ITCH

606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO

607139 FANCONI ANEMIA COMPLEMENTATION GROUP A GENE; FANCA

607462 DRPLA GENE; DRPLA

607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO

607500 CHROMOSOME 18p DELETION SYNDROME

January 23, 2003

New Entries:

607500 CHROMOSOME 18p DELETION SYNDROME

607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO

607502 DISPATCHED, DROSOPHILA, HOMOLOG OF, A

607503 DISPATCHED, DROSOPHILA, HOMOLOG OF, B

607505 PAS DOMAIN-CONTAINING SERINE/THREONINE KINASE; PASK

Clinical Synopsis for 607498 MIGRAINE, FAMILIAL, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO

Changed Entries:

120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3

120920 MEMBRANE COFACTOR PROTEIN; MCP

124092 INTERLEUKIN 10; IL10

134390 COAGULATION FACTOR III; F3

136351 FMS-RELATED TYROSINE KINASE 3; FLT3

138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR

141251 HEME OXYGENASE 2; HMOX2

143050 HUMERORADIAL SYNOSTOSIS

153600 MACROGLOBULINEMIA, WALDENSTROM; WM

156240 MESOTHELIOMA, MALIGNANT

167409 PAIRED BOX GENE 2; PAX2

176670 PROGERIA

191830 UROGENITAL ADYSPLASIA, HEREDITARY

193300 VON HIPPEL-LINDAU SYNDROME; VHL

205900 DIAMOND-BLACKFAN ANEMIA; DBA

215300 CHONDROSARCOMA

230800 GAUCHER DISEASE, TYPE I

271530 SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA

300392 WAS GENE; WAS

300415 MYOTUBULARIN; MTM1

301000 WISKOTT-ALDRICH SYNDROME; WAS

305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC

306700 HEMOPHILIA A

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

310400 MYOTUBULAR MYOPATHY 1; MTM1

600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2

600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3

601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2

601652 MYOCILIN; MYOC

601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1

601808 CHROMOSOME 18q DELETION SYNDROME

602575 LIM HOMEO BOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

602716 NEPHRIN; NPHS1

602900 DNA METHYLTRANSFERASE 3B; DNMT3B

603756 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2

604653 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607311 PROGESTERONE RECEPTOR; PGR

607498 MIGRAINE, FAMILIAL, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO

607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO

January 22, 2003

New Entries:

607497 UDP-GLUCURONYLTRANSFERASE S

607498 MIGRAINE, FAMILIAL, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO; MGR3

Changed Entries:

120920 MEMBRANE COFACTOR PROTEIN; MCP

124092 INTERLEUKIN 10; IL10

143100 HUNTINGTON DISEASE; HD

160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9

174761 POLYMERASE, DNA, DELTA-1, CATALYTIC SUBUNIT; POLD1

235200 HEMOCHROMATOSIS; HFE

305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

600386 INHIBITOR OF DNA BINDING 2; ID2

600942 MOVED TO 600943

600943 COLLAGEN-BINDING PROTEIN 2; CBP2

601808 CHROMOSOME 18q DELETION SYNDROME

603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR

607493 INHIBITOR OF GROWTH FAMILY, MEMBER 3; ING3

January 21, 2003

New Entries:

607490 D-LACTATE DEHYDROGENASE; LDHD

607493 INHIBITOR OF GROWTH FAMILY, MEMBER 3; ING3

607494 INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE II, 105-KD; INPP4B

607495 ANDROGEN-INDUCED BASIC LEUCINE ZIPPER PROTEIN

607496 NITRIC OXIDE SYNTHASE TRAFFICKER; NOSTRIN

Changed Entries:

104175 GLYCOPROTEIN ALPHA-GALACTOSYLTRANSFERASE 1; GGTA1

104311 PRESENILIN 1; PSEN1

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1

134390 COAGULATION FACTOR III; F3

139185 GROWTH ARREST-SPECIFIC 1; GAS1

153240 SELECTIN L; SELL

161950 IgA NEPHROPATHY

176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11

189907 TRANSCRIPTION FACTOR 2; TCF2

193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1

256550 NEURAMINIDASE DEFICIENCY

264700 PSEUDOVITAMIN D DEFICIENCY RICKETS

300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1

600842 GLUCOKINASE REGULATORY PROTEIN; GCKR

600916 INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD; INPP4A

601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR

601515 FIBROBLAST GROWTH FACTOR 14; FGF14

602080 PAGET DISEASE OF BONE; PDB

602742 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1

603130 ATTRACTIN; ATRN

603360 PEROXISOME BIOGENESIS FACTOR 16; PEX16

603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A

605126 ACTIVATOR OF CREM IN TESTIS

607013 BRF2 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR;

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

Clinical Synopsis for 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN

Clinical Synopsis for 310400 MYOTUBULAR MYOPATHY 1; MTM1

January 17, 2003

New Entries:

607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD

607488 DYSTONIA 15, MYOCLONIC; DYT15

607491 PROTEIN O-FUCOSYLTRANSFERASE 1; POFUT1

607492 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1

Changed Entries:

103950 ALPHA-2-MACROGLOBULIN; A2M

127750 DEMENTIA, LEWY BODY; DLB

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1

159900 MYOCLONIC DYSTONIA

178990 MATRIX METALLOPROTEINASE 7; MMP7

186355 SYNDECAN 1; SDC1

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

194200 WOLFF-PARKINSON-WHITE SYNDROME

221745 MITOCHONDRIAL DEAFNESS MODIFIER GENE 1; MDM1

263400 ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN

300013 N-ACETYLTRANSFERASE ARD1, S. CEREVISIAE, HOMOLOG OF; DXS707

600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3

600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3

601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

602390 HEMOCHROMATOSIS, JUVENILE; JH

602576 LUNATIC FRINGE; LFNG

602633 FOUR-AND-A-HALF LIM DOMAINS 2; FHL2

602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2

602790 FOUR-AND-A-HALF LIM DOMAINS 3; FHL3

603347 NEURONAL PAS DOMAIN PROTEIN 2; NPAS2

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

605313 RNA-BINDING MOTIF PROTEIN 8A; RBM8A

605771 CYTOCHROME C OXIDASE SUBUNIT VIIA, POLYPEPTIDE 2-LIKE; COX7A2L

606931 VACUOLAR PROTEIN SORTING 35; VPS35

607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M

607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD

607487 CARDIOMYOPATHY, DILATED, 1N; CMD1N

607492 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1

January 16, 2003

New Entries:

300421 WITTWER SYNDROME

607474 HOMOGENTISATE 1,2-DIOXYGENASE; HGD

607486 KNOPS BLOOD GROUP SYSTEM; KN

607487 CARDIOMYOPATHY, DILATED, 1N; CMD1N

607489 p53-ASSOCIATED PARKIN-LIKE CYTOPLASMIC PROTEIN

Clinical Synopsis for 607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,

Changed Entries:

107285 SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI

109750 BILIVERDIN REDUCTASE A; BLVRA

110310 BLOOD GROUP--ABH ANTIGEN, TYPE 2

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

119530 OROFACIAL CLEFT 1; OFC1

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2

130130 ELASTASE 2; ELA2

134370 H FACTOR 1; HF1

137260 GASTRIN-RELEASING POLYPEPTIDE; GRP

138945 GRANULIN; GRN

139200 GROUP-SPECIFIC COMPONENT; GC

147510 INSULIN-RELATED DNA POLYMORPHISM; IRDN

152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR

159900 MYOCLONIC DYSTONIA

168600 PARKINSON DISEASE; PD

172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A

182309 SOLUTE CARRIER FAMILY 34, MEMBER 1; SLC34A1

188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A

203500 ALKAPTONURIA

218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300421 WITTWER SYNDROME

304040 GAP JUNCTION PROTEIN, BETA-1; GJB1

305670 GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR

312750 RETT SYNDROME; RTT

516003 COMPLEX I, SUBUNIT ND4; MTND4

535000 LEBER OPTIC ATROPHY

600005 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II TRANSACTIVATOR; MHC2TA

600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1

600941 BILIVERDIN REDUCTASE B; BLVRB

601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR

601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601861 REGULATORY FACTOR X-ASSOCIATED PROTEIN; RFXAP

602533 ONCOGENE DJ1

604149 SARCOGLYCAN, EPSILON; SGCE

604263 PRION GENE COMPLEX, DOWNSTREAM; PRND

604488 TITIN-CAP; TCAP

604674 CARDIOVASCULAR BASIC-LOOP-HELIX FACTOR; CHF1

604878 SOLUTE CARRIER FAMILY 12, MEMBER 6; SLC12A6

605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2

605747 AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA GENE; ARH

606324 PARKINSON DISEASE, TYPE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

607215 NEPHROCYSTIN 4; NPHP4

Clinical Synopsis for 159900 MYOCLONIC DYSTONIA

Clinical Synopsis for 203500 ALKAPTONURIA

Clinical Synopsis for 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN

Clinical Synopsis for 607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,

January 15, 2003

New Entries:

607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M

607483 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE

607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A

Clinical Synopsis for 606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES

Clinical Synopsis for 606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY

Changed Entries:

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

138945 GRANULIN; GRN

140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A

140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

152430 LONGEVITY

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

163729 NITRIC OXIDE SYNTHASE 3; NOS3

168820 PARAOXONASE 1; PON1

170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1

179509 RAS-ASSOCIATED PROTEIN RAB2; RAB2

186845 CD81 ANTIGEN; CD81

208900 ATAXIA-TELANGIECTASIA; AT

265100 PULMONARY ALVEOLAR MICROLITHIASIS

271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE

300332 INTEGRIN, BETA-1, BINDING PROTEIN OF, 2; ITGB1BP2

308240 LYMPHOPROLIFERATIVE SYNDROME

600184 CARNITINE ACETYLTRANSFERASE; CRAT

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2

600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3

601534 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 3; KCNJ3

601993 NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2

602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3

602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7

602691 NUCLEAR RECEPTOR COACTIVATOR 1; NCOA1

605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;

606081 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 70, YEAST, HOMOLOG OF,

606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3

607404 INTERLEUKIN 28 RECEPTOR, ALPHA; IL28RA

607466 RAS FAMILY, MEMBER RAB2B; RAB2B

607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A

Clinical Synopsis for 200150 CHOREOACANTHOCYTOSIS; CHAC

Clinical Synopsis for 203500 ALKAPTONURIA

Clinical Synopsis for 269500 SCLEROSTEOSIS; SOST

Clinical Synopsis for 277600 WEILL-MARCHESANI SYNDROME

Clinical Synopsis for 310400 MYOTUBULAR MYOPATHY 1; MTM1

January 15, 2003

Changed Entries:

127750 DEMENTIA, LEWY BODY; DLB

134390 COAGULATION FACTOR III; F3

300100 ADRENOLEUKODYSTROPHY; ALD

600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2

607475 BOTHNIA RETINAL DYSTROPHY

January 14, 2003

New Entries:

300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2

607475 BOTHNIA RETINAL DYSTROPHY

607476 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD

607477 G2- AND S-PHASE EXPRESSED GENE 1; GTSE1

607478 TRYPTOPHAN HYDROXYLASE, NEURONAL

607479 APC, DOWNREGULATED BY, 1; APCDD1

607480 RETINITIS PIGMENTOSA 23; RP23

607481 MMAA GENE

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

104300 ALZHEIMER DISEASE; AD

104311 PRESENILIN 1; PSEN1

104510 AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIC TYPE, WITH TAURODONTISM;

107741 APOLIPOPROTEIN E; APOE

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

123610 CRYSTALLIN, BETA-A1; CRYBA1

123630 CRYSTALLIN, BETA-B3; CRYBB3

125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

134640 FATTY ACID-BINDING PROTEIN 2; FABP2

137580 GILLES DE LA TOURETTE SYNDROME; GTS

147450 SUPEROXIDE DISMUTASE 1; SOD1

152310 TISSUE FACTOR PATHWAY INHIBITOR; TFPI

159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A

162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL

163000 NEVI FLAMMEI, FAMILIAL MULTIPLE

163950 NOONAN SYNDROME 1; NS1

173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2

176640 PRION PROTEIN; PRNP

180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1

181500 SCHIZOPHRENIA; SCZD

190320 TRICHODENTOOSSEOUS SYNDROME

191060 TRYPTOPHAN HYDROXYLASE; TPH

202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,

239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA

250250 CARTILAGE-HAIR HYPOPLASIA; CHH

251100 METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS

251110 METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS

257200 NIEMANN-PICK DISEASE

277380 VITAMIN B12 LYSOSOMAL RELEASE DEFECT

277400 VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA

277410 VITAMIN B12 METABOLIC DEFECT, TYPE 2

277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1

300089 ISOCITRATE DEHYDROGENASE 3, GAMMA SUBUNIT; IDH3G

300100 ADRENOLEUKODYSTROPHY; ALD

300123 MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY;

300214 PLEXIN B3; PLXNB3

300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

304900 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE

309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

313430 SRY-BOX 3; SOX3

600274 FRONTOTEMPORAL DEMENTIA

600929 CRYSTALLIN, BETA-B1; CRYBB1

601081 ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4

601767 HUNTINGTIN-INTERACTING PROTEIN 1; HIP1

601897 ZINC FINGER PROTEIN 148; ZNF148

603214 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4

604103 TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID

604219 CATARACT, AUTOSOMAL DOMINANT

605023 HYDROXYACID OXIDASE 1; HAO1

605176 HYDROXYACID OXIDASE 2; HAO2

605177 REMOVED FROM DATABASE

605204 TORSION DYSTONIA 1 GENE; DYT1

606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES

606169 METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS

606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY

606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE 1

607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,

607463 RELA-ASSOCIATED INHIBITOR

607475 BOTHNIA RETINAL DYSTROPHY

607480 RETINITIS PIGMENTOSA 23; RP23

January 13, 2003

Changed Entries:

107748 APEX NUCLEASE; APEX

126350 DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2

140050 GRANZYME A; GZMA

601883 DNA FRAGMENTATION FACTOR, 40-KD, BETA SUBUNIT; DFFB

January 10, 2003

New Entries:

607460 PHOSPHATIDYLSERINE-SPECIFIC PHOSPHOLIPASE A1-ALPHA; PLA1A

607467 DENDRITIC CELL-ASSOCIATED LECTIN 1

607468 G PROTEIN-COUPLED RECEPTOR 88; GPR88

607469 N-ACYLSPHINGOSINE AMIDOHYDROLASE-LIKE PROTEIN; ASAHL

607470 BREAST CARCINOMA AMPLIFIED SEQUENCE 3; BCAS3

607471 BREAST CARCINOMA AMPLIFIED SEQUENCE 4; BCAS4

607472 MITOCHONDRIAL ESCAPE 1-LIKE 1; YME1L1

Clinical Synopsis for 607454 SPINOCEREBELLAR ATAXIA 21; SCA21

Clinical Synopsis for 607458 SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT

Clinical Synopsis for 607459 ATAXIA, AUTOSOMAL RECESSIVE, WITH THALAMIC LESIONS

Changed Entries:

107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2

125647 DESMOPLAKIN; DSP

125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1

125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2

126800 DUANE RETRACTION SYNDROME 1; DURS1

139250 GROWTH HORMONE 1; GH1

238300 GLYCINE DECARBOXYLASE; GLDC

238330 GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH

245200 KRABBE DISEASE

249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME

300411 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, X-LINKED; TGIF2LX

303600 COFFIN-LOWRY SYNDROME; CLS

400025 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, Y-LINKED; TGIF2LY

600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3

602783 SPASTIC PARAPLEGIA 7 GENE; SPG7

605899 GLYCINE ENCEPHALOPATHY; GCE

607323 DUANE-RADIAL RAY SYNDROME; DRRS

607343 SAL-LIKE 4; SALL4

607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8

607460 PHOSPHATIDYLSERINE-SPECIFIC PHOSPHOLIPASE A1-ALPHA; PLA1A

Clinical Synopsis for 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

Clinical Synopsis for 215400 CHORDOMA; CHDM

Clinical Synopsis for 248300 MAL DE MELEDA

Clinical Synopsis for 601214 NAXOS DISEASE

January 9, 2003

New Entries:

607466 RAS-ASSOCIATED PROTEIN RAB2B

Changed Entries:

107266 CD22 ANTIGEN; CD22

107748 APEX NUCLEASE; APEX

107777 AQUAPORIN 2; AQP2

108960 NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1

110750 BLOOD GROUP--GERBICH; Ge

118485 CYTOCHROME P450, SUBFAMILY XIA; CYP11A

123889 INTERLEUKIN 10 RECEPTOR, BETA; IL10RB

123910 GRANZYME B; GZMB

147570 INTERFERON, GAMMA; IFNG

147780 INTERLEUKIN 4; IL4

147935 PROTEASE INHIBITOR 4; PI4

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

162200 NEUROFIBROMATOSIS, TYPE I; NF1

176880 PROTEIN S, ALPHA; PROS1

178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB

179509 RAS-ASSOCIATED PROTEIN RAB2; RAB2

182230 SEPTOOPTIC DYSPLASIA

188855 GRANULYSIN; GNLY

193300 VON HIPPEL-LINDAU SYNDROME; VHL

203500 ALKAPTONURIA

226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS

248300 MAL DE MELEDA

261600 PHENYLKETONURIA

267700 RETICULOSIS, FAMILIAL HISTIOCYTIC

277400 VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA

516060 ATP SYNTHASE 6; MTATP6

600183 DUAL-SPECIFICITY PHOSPHATASE 3; DUSP3

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP

600725 SONIC HEDGEHOG; SHH

600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2

601214 NAXOS DISEASE

601639 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, ALPHA; PRKACA

601882 DNA FRAGMENTATION FACTOR, 45-KD, ALPHA SUBUNIT; DFFA

604515 B-CELL LINKER PROTEIN; BLNK

604840 FK506-BINDING PROTEIN 8; FKBP8

604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC

605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13

605719 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 5; WBSCR5

606119 SECRETED LY6/UPAR-RELATED PROTEIN 1

607401 INTERLEUKIN 28A; IL28A

607402 INTERLEUKIN 28B; IL28B

607403 INTERLEUKIN 29; IL29

607404 INTERLEUKIN 28 RECEPTOR, ALPHA; IL28RA

607414 FOREBRAIN EMBRYONIC ZINC FINGER-LIKE GENE

607456 CIRHIN; CIRH1A

January 8, 2003

New Entries:

300420 PRAJA 1; PJA1

607463 RELA-ASSOCIATED INHIBITOR

607464 THYROID CARCINOMA, HURTHLE CELL

607465 CODANIN 1; CDAN1

Changed Entries:

108960 NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1

109800 BLADDER CANCER

115470 CAT EYE SYNDROME; CES

118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1

153440 LYMPHOTOXIN-ALPHA; LTA

155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

162200 NEUROFIBROMATOSIS, TYPE I; NF1

164761 RET PROTOONCOGENE; RET

164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI

171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2

181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2

191170 TUMOR PROTEIN p53; TP53

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I

250950 3-@METHYLGLUTACONICACIDURIA, TYPE I

255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION

277900 WILSON DISEASE

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300224 MELANOMA ANTIGEN, FAMILY D, 1; MAGED1

302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

313700 ANDROGEN RECEPTOR; AR

600069 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B15; UGT2B15

600141 HEAT-SHOCK 10-KD PROTEIN; HSPE1

600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2

600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH

600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6

600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,

600927 CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D

601291 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 8; UGT8

601718 RETINITIS PIGMENTOSA 19; RP19

601950 ZINC FINGER PROTEIN, MULTITYPE 1; ZFPM1

603369 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C

604716 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER A1; UGT2A1

605391 MULTIPLE INOSITOL POLYPHOSPHATE PHOSPHATASE 1; MINPP1

606119 SECRETED LY6/UPAR-RELATED PROTEIN 1

606196 IROQUOIS HOMEO BOX PROTEIN 6; IRX6

606240 THYROID CARCINOMA, NONMEDULLARY 1

606407 HOMOZYGOUS 2p16 DELETION SYNDROME

606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME

606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B

January 7, 2003

New Entries:

607453 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 44

607454 SPINOCEREBELLAR ATAXIA 21; SCA21

607458 SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT

607459 ATAXIA, AUTOSOMAL RECESSIVE, WITH THALAMIC LESIONS

Clinical Synopsis for 606851 CREE MENTAL RETARDATION SYNDROME

Changed Entries:

102200 ACROMEGALY

103900 HYPERALDOSTERONISM, FAMILIAL, TYPE I

117140 CENTROMERIC PROTEIN B; CENPB

118850 CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA

118860 CHORIONIC GONADOTROPIN, BETA CHAIN; CGB

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

126065 CYTOCHROME P450, SUBFAMILY XXIV; CYP24

126450 DOPAMINE RECEPTOR D2; DRD2

126650 SOLUTE CARRIER FAMILY 26, MEMBER 3; SLC26A3

139605 HAIRY AND ENHANCER OF SPLIT 1, DROSOPHILA, HOMOLOG OF; HES1

147520 INOSINE TRIPHOSPHATASE; ITPA

152430 LONGEVITY

159900 MYOCLONIC DYSTONIA

161400 NARCOLEPSY

162200 NEUROFIBROMATOSIS, TYPE I; NF1

176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

176300 TRANSTHYRETIN; TTR

185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB

219700 CYSTIC FIBROSIS; CF

256851 NEUROPATHY, GIANT AXONAL, TUNISIAN FORM

267450 RESPIRATORY DISTRESS SYNDROME

300326 SYNOVIAL SARCOMA, X BREAKPOINT 4; SSX4

600225 GTP CYCLOHYDROLASE I; GCH1

600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2

600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,

600970 MYOSIN VI; MYO6

601013 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT; CACNA1E

601253 CAVEOLIN 3; CAV3

601535 EPHRIN A5; EFNA5

602358 HYPOCRETIN; HCRT

602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3

602413 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN,

602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2

603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

604149 SARCOGLYCAN, EPSILON; SGCE

604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR

604610 RECQ PROTEIN-LIKE 3; RECQL3

604611 RECQ PROTEIN-LIKE 2; RECQL2

605204 TORSION DYSTONIA 1 GENE; DYT1

606072 RIPPLING MUSCLE DISEASE; RMD

606272 CYSTINOSIN; CTNS

606786 CMRF35 ANTIGEN

606852 PARKINSON DISEASE 10; PARK10

607458 SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT

Clinical Synopsis for 101800 ACRODYSOSTOSIS

Clinical Synopsis for 605751 BENIGN FAMILIAL INFANTILE CONVULSIONS 2

January 6, 2003

New Entries:

607461 FLJ90130 GENE

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

108355 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2

113705 BREAST CANCER, TYPE 1; BRCA1

123837 CYCLIN E1; CCNE1

125240 DECAY-ACCELERATING FACTOR FOR COMPLEMENT; DAF

138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR

142986 HOMEO BOX D11; HOXD11

145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1

146110 HYPOGONADOTROPIC HYPOGONADISM

147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC

147620 INTERLEUKIN 6; IL6

152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB

171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 1; PIK3R1

172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1

173350 PLASMINOGEN; PLG

180380 RHODOPSIN; RHO

182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

191160 TUMOR NECROSIS FACTOR; TNF

208900 ATAXIA-TELANGIECTASIA; AT

223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

254200 MYASTHENIA GRAVIS; MG

272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION

600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A

601199 CALCIUM-SENSING RECEPTOR; CASR

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

602711 FE65-LIKE 2

603101 CARBOXYPEPTIDASE B2, PLASMA; CPB2

603273 TUMOR PROTEIN p63

603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11

603830 LONG QT SYNDROME 3; LQT3

604277 SPASTIC PARAPLEGIA 4 GENE; SPG4

604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE

605565 RESISTIN

606519 PHACE ASSOCIATION

606837 RB1-INDUCIBLE COILED-COIL 1; RB1CC1

607057 UBIQUITIN-SPECIFIC PROTEASE 18; USP18

607067 SAITOHIN

607326 SMITH-MCCORT DYSPLASIA; SMC

January 3, 2003

New Entries:

607432 LISSENCEPHALY 1; LIS1

607455 TESTIS-EXPRESSED GENE 27; TEX27

607456 TESTIS-EXPRESSED GENE 292

607457 GIL BLOOD GROUP

Changed Entries:

103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2

104311 PRESENILIN 1; PSEN1

106200 ANIRIDIA; AN1

107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19

109800 BLADDER CANCER

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

150330 LAMIN A/C; LMNA

151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL

152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE

153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3

156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR

161950 IgA NEPHROPATHY

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

182290 SMITH-MAGENIS SYNDROME; SMS

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

190090 V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENE; SRC

191170 TUMOR PROTEIN p53; TP53

236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1

247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

254090 MUSCULAR DYSTROPHY, SCLEROATONIC

271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

300121 DOUBLECORTIN; DCX

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

516020 CYTOCHROME b OF COMPLEX III; MTCYB

516060 ATP SYNTHASE 6; MTATP6

600170 AQUAPORIN 3; AQP3

600267 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13

600615 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7; LGALS7

601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;

601652 MYOCILIN; MYOC

601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1

601791 PEROXISOME BIOGENESIS FACTOR 14; PEX14

602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2

602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1

602344 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE 2; PAFAH2

602568 METHIONINE SYNTHASE REDUCTASE; MTRR

602783 SPASTIC PARAPLEGIA 7 GENE; SPG7

602897 MITOGEN-ACTIVATED PROTEIN KINASE 10; MAPK10

603033 COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; COLQ

603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD

603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5

604444 PUTATIVE TRANSMEMBRANE PROTEIN

604610 RECQ PROTEIN-LIKE 3; RECQL3

604611 RECQ PROTEIN-LIKE 2; RECQL2

606416 CIAS1 GENE; CIAS1

607115 CINCA SYNDROME; CINCA

Clinical Synopsis for 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

January 2, 2003

Changed Entries:

109150 MACHADO-JOSEPH DISEASE; MJD

109600 BEETURIA

111000 BLOOD GROUP--KIDD SYSTEM; JK

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2

125310 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS

128230 DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION

147450 SUPEROXIDE DISMUTASE 1; SOD1

158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14

164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF

171760 ALKALINE PHOSPHATASE, LIVER; ALPL

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176705 PROHIBITIN; PHB

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

188250 THYMIDINE KINASE, MITOCHONDRIAL; TK2

190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2

191160 TUMOR NECROSIS FACTOR; TNF

191181 SUPPRESSOR OF TUMORIGENICITY 3; ST3

192500 LONG QT SYNDROME 1

193300 VON HIPPEL-LINDAU SYNDROME; VHL

193400 VON WILLEBRAND DISEASE

201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ

201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II

210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III

211980 LUNG CANCER

218700 THYROID DYSGENESIS

221770 PRESENILE DEMENTIA WITH BONE CYSTS

223100 HYPOLACTASIA, ADULT TYPE

229850 FRYNS SYNDROME; FRNS

233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME

253000 MUCOPOLYSACCHARIDOSIS TYPE IVA

269700 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY; BSCL

300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A

300385 NUCLEOSOMAL BINDING PROTEIN 1; NSBP1

300389 RETINITIS PIGMENTOSA 3; RP3

300395 THO COMPLEX, SUBUNIT 2; THOC2

309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600511 SCHIZOPHRENIA 3; SCZD3

600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12

600709 ISOLEUCYL-tRNA SYNTHETASE; IARS

601562 DYNEIN, CYTOPLASMIC, LIGHT CHAIN 1; DNCL1

601905 RAB GERANYLGERANYL TRANSFERASE, ALPHA SUBUNIT; RABGGTA

602080 PAGET DISEASE OF BONE; PDB

602390 HEMOCHROMATOSIS, JUVENILE; JH

602402 FORKHEAD BOX C2; FOXC2

602695 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12

602851 MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1, MOUSE, HOMOLOG OF;

602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4

603366 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 25; TNFRSF25

603605 SMALL INDUCIBLE CYTOKINE SUBFAMILY E, MEMBER 1; SCYE1

604089 DNAX-ACTIVATION PROTEIN 10

604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP

604167 CCCTC-BINDING FACTOR; CTCF

604171 THO COMPLEX, SUBUNIT 4; THOC4

604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4

604415 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE; STEAP

605094 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 2; STEAP2

605882 BRCA1-INTERACTING PROTEIN 1

605914 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12A; TNFRSF12A

606423 DISRUPTED IN RENAL CARCINOMA 1; DIRC1

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1

606792 HISTAMINE RECEPTOR H4

606832 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE

606929 THO COMPLEX, SUBUNIT 3; THOC3

606930 THO COMPLEX, SUBUNIT 1; THOC1

607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

607044 T-BOX 24

607076 PROTEASE INHIBITOR 15; PI15

607103 ARGINYLTRANSFERASE 1; ATE1

607132 LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES

607198 TYROSYL-DNA PHOSPHODIESTERASE 1; TDP1

607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI

607238 COPPER METABOLISM GENE MURR1

607253 APOLIPOPROTEIN L-III; APOL3

607262 EPSIN 1

607397 MELANOCORTIN 2 RECEPTOR; MC2R