PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for February, 2002

February 28, 2002

New Entries:

606728 SERUM DEPRIVATION RESPONSE PHOSPHATIDYLSERINE-BINDING PROTEIN; SDPR

606729 OXYSTEROL-BINDING PROTEIN 2; OSBP2

606730 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 1A; OSBPL1A

606731 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 2; OSBPL2

606732 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 3; OSBPL3

606733 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 5; OSBPL5

606734 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 6; OSBPL6

606735 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 7; OSBPL7

606736 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 8; OSBPL8

606737 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 9; OSBPL9

606738 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 10; OSBPL10

606739 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 11; OSBPL11

Changed Entries:

110700 BLOOD GROUP--DUFFY SYSTEM; FY

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

124092 INTERLEUKIN 10; IL10

130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; EDS4

137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2

141250 HEME OXYGENASE 1; HMOX1

147185 IMMUNOGLOBULIN KAPPA VARIABLE 1/OR2-108; IGKV1OR2108

173470 INTEGRIN, BETA-3; ITGB3

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB

188550 THYROID CARCINOMA, PAPILLARY

191160 TUMOR NECROSIS FACTOR; TNF

215700 CITRULLINEMIA, CLASSIC

222600 DIASTROPHIC DYSPLASIA

273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI

308230 IMMUNODEFICIENCY WITH HYPER-IgM

601407 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2

603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1

606718 SOLUTE CARRIER FAMILY 26, MEMBER 2; SLC26A2

606728 SERUM DEPRIVATION RESPONSE PHOSPHATIDYLSERINE-BINDING PROTEIN; SDPR

606729 OXYSTEROL-BINDING PROTEIN 2; OSBP2

606730 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 1A; OSBPL1A

February 27, 2002

New Entries:

606718 SOLUTE CARRIER FAMILY 26, MEMBER 2; SLC26A2

606722 NEUROCALCIN, DELTA; NCALD

606724 MITOGEN-ACTIVATED PROTEIN KINASE-INTERACTING SERINE/THREONINE KINASE

606725 CLN6 GENE; CLN6

606726 SOLUTE CARRIER FAMILY 12, MEMBER 5; SLC12A5

606727 NK2, DROSOPHILA, HOMOLOG OF, C; NKX2C

Clinical Synopsis for 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib

Clinical Synopsis for 603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic

Clinical Synopsis for 603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix

Changed Entries:

102670 MUCOSAL VASCULAR ADDRESSIN CELL ADHESION MOLECULE 1; MADCAM1

103900 HYPERALDOSTERONISM, FAMILIAL, TYPE I

107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19

118485 CYTOCHROME P450, SUBFAMILY XIA; CYP11A

119800 CLUBFOOT

133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E

142622 HIPPOCALCIN; HPCA

154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME 1; TCOF1

161561 INTERLEUKIN 12B; IL12B

176761 PROLACTIN RECEPTOR; PRLR

176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1

182455 SOMATOSTATIN RECEPTOR 5; SSTR5

188470 THYROID CARCINOMA, FOLLICULAR; FTC

201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA

204500 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2

222600 DIASTROPHIC DYSPLASIA

226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4

251450 MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND

256050 NEONATAL OSSEOUS DYSPLASIA I

475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY

600207 HIPPOCALCIN-LIKE 1; HPCAL1

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 1; EIF4G1

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

600972 ACHONDROGENESIS, TYPE IB; ACG1B

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

601780 CEROID LIPOFUSCINOSIS, NEURONAL, LATE-INFANTILE, VARIANT

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

602325 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 2; EIF4G2

602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib

603005 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2

603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic

603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix

604309 SOLUTE CARRIER FAMILY 13, MEMBER 4; SLC13A4

605069 G PROTEIN-COUPLED RECEPTOR KINASE 7; GPRK7

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

606193 SOLUTE CARRIER FAMILY 13, MEMBER 1; SLC13A1

606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP

606719 MELANOMA-PANCREATIC CANCER SYNDROME

606722 NEUROCALCIN, DELTA; NCALD

606723 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 5; MAPKAPK5

Clinical Synopsis for 203450 ALEXANDER DISEASE

Clinical Synopsis for 209900 BARDET-BIEDL SYNDROME; BBS

Clinical Synopsis for 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

Clinical Synopsis for 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS

Clinical Synopsis for 249000 MECKEL SYNDROME, TYPE 1; MKS1

Clinical Synopsis for 603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic

February 26, 2002

New Entries:

300379 PUTATIVE RING ZINC FINGER PROTEIN NY-REN-43 ANTIGEN

300380 CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2; CTPS2

606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1

606719 MELANOMA-PANCREATIC CANCER SYNDROME

606721 LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION

606723 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 5; MAPKAPK5

Changed Entries:

122500 CORTICOSTEROID-BINDING GLOBULIN; CBG

124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB

202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-@BETA-HYDROXYLASE DEFICIENCY

260350 PANCREATIC CARCINOMA

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600630 UV-SENSITIVE SYNDROME; UVS

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

603859 SOLUTE CARRIER FAMILY 25, MEMBER 13; SLC25A13

604751 ZINC FINGER PROTEIN 266; ZNF266

604752 ZINC FINGER PROTEIN 267; ZNF267

605504 KALLIKREIN 9; KLK9

605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET

606655 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 8

606716 N-ACETYLTRANSFERASE 8; NAT8

606719 MELANOMA-PANCREATIC CANCER SYNDROME

606721 LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION

Clinical Synopsis for 209900 BARDET-BIEDL SYNDROME; BBS

Clinical Synopsis for 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS

February 25, 2002

New Entries:

300378 RADIAL RAY DEFICIENCY, X-LINKED

606710 LIPOMA HMGIC FUSION PARTNER; LHFP

606711 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

606712 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

606713 VAN DER WOUDE SYNDROME 2

606714 PROLINE-RICH 2; PROL2

606715 ACID-SENSING ION CHANNEL 4

606716 N-ACETYLTRANSFERASE 8; NAT8

606717 XIAP-ASSOCIATED FACTOR 1

Changed Entries:

118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD

119300 VAN DER WOUDE SYNDROME; VWS

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

142410 TRANSCRIPTION FACTOR 1; TCF1

187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;

209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA

252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB

253200 MUCOPOLYSACCHARIDOSIS TYPE VI

600374 BBS4 GENE; BBS4

600698 HIGH MOBILITY GROUP PROTEIN ISOFORM I-C; HMGIC

601767 HUNTINGTIN-INTERACTING PROTEIN 1; HIP1

602081 SPECIFIC LANGUAGE IMPAIRMENT; SLI

603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ

604999 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1; SHANK1

605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH

606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A

606651 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B

606716 N-ACETYLTRANSFERASE 8; NAT8

Clinical Synopsis for 600374 BBS4 GENE; BBS4

February 25, 2002

Changed Entries:

134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6

181750 SCLERODERMA, FAMILIAL PROGRESSIVE

238310 AMINOMETHYLTRANSFERASE; AMT

238330 GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH

310400 MYOTUBULAR MYOPATHY 1; MTM1

600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2

603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10

February 22, 2002

New Entries:

606709 PROTEASE, SERINE, 12; PRSS12

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

109770 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1

116845 CATHEPSIN S; CTSS

137360 GENOCHONDROMATOSIS

142790 CD74 ANTIGEN; CD74

142960 HOMEO BOX B5; HOXB5

147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI

148030 KERATIN 15; KRT15

148040 KERATIN 5; KRT5

148066 KERATIN 14; KRT14

161200 NAIL-PATELLA SYNDROME; NPS

164210 HEMIFACIAL MICROSOMIA; HFM

164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2

166000 ENCHONDROMATOSIS, MULTIPLE

166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY

168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1

179520 RAS-RELATED PROTEIN 1A; RAP1A

187011 SMALL INDUCIBLE CYTOKINE A5; SCYA5

188410 THYMOCYTE ANTIGEN CD1D; CD1D

225795 MOVED TO 166000

238300 GLYCINE DECARBOXYLASE; GLDC

256730 CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1

300500 ALBINISM, OCULAR, TYPE I; OA1

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600508 NCK ADAPTOR PROTEIN 1; NCK1

600805 LAMININ, ALPHA-3; LAMA3

601664 U5 snRNP-SPECIFIC PROTEIN, 200-KD

603177 VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8

603288 KERATOCAN; KERA

604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14

604895 T-BOX 21; TBX21

604978 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 5; CPSF5

605171 p53-INDUCED GENE 3

605369 AIRWAY TRYPSIN-LIKE PROTEASE

605658 INTERLEUKIN 17E; IL17E

605899 GLYCINE ENCEPHALOPATHY; GCE

606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1

606708 SPLIT-HAND/FOOT MALFORMATION 5

606709 PROTEASE, SERINE, 12; PRSS12

February 21, 2002

New Entries:

300375 CARBOHYDRATE SULFOTRANSFERASE 7; CHST7

606702 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 GENE; PKHD1

606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA

606704 G PROTEIN-COUPLED RECEPTOR 75; GPR75

606705 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 36; DFNA36

606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1

606707 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 2; TMC2

606708 SPLIT-HAND/FOOT MALFORMATION 5

Changed Entries:

118700 CHOREA, HEREDITARY BENIGN; BCH

125647 DESMOPLAKIN; DSP

133171 ERYTHROPOIETIN RECEPTOR; EPOR

142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B

142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1

154870 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX; MGP

168820 PARAOXONASE 1; PON1

183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

186000 SYNDACTYLY, TYPE II

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

204400 REMOVED FROM DATABASE

209850 AUTISTIC DISORDER

213000 CEREBELLAR HYPOPLASIA

213200 CEREBELLAR ATAXIA 1; CLA1

254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

301000 WISKOTT-ALDRICH SYNDROME; WAS

308230 IMMUNODEFICIENCY WITH HYPER-IgM

313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2

313700 ANDROGEN RECEPTOR; AR

600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

600173 JANUS KINASE 3; JAK3

600974 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7

601908 G PROTEIN-COUPLED RECEPTOR 20; GPR20

603273 TUMOR PROTEIN p63

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

603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3

604221 ACTIN-RELATED PROTEIN 2; ACTR2

605035 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4

606265 E1A-BINDING PROTEIN, 400-KD; EP400

606700 MIDNOLIN, MOUSE, HOMOLOG OF; MIDN

606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA

606704 G PROTEIN-COUPLED RECEPTOR 75; GPR75

606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1

606708 SPLIT-HAND/FOOT MALFORMATION 5

Clinical Synopsis for 204400 REMOVED FROM DATABASE

February 20, 2002

New Entries:

606698 SRY-BOX 30

606699 HELICASE WITH ZINC FINGER DOMAIN; HELZ

606700 MIDNOLIN, MOUSE, HOMOLOG OF; MIDN

606701 DRG11, RAT, HOMOLOG OF

Changed Entries:

107265 CD19 ANTIGEN; CD19

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1

136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB

138130 GLUTAMATE DEHYDROGENASE 1; GLUD1

139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR

139250 GROWTH HORMONE 1; GH1

143890 HYPERCHOLESTEROLEMIA, FAMILIAL

146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3

156240 MESOTHELIOMA, MALIGNANT

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

165120 V-YES-1 YAMAGUCHI SARCOMA VIRAL RELATED ONCOGENE HOMOLOG; LYN

177020 PROTEINASE 3; PRTN3

182115 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 1; PSCD1

193400 VON WILLEBRAND DISEASE

209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL

222600 DIASTROPHIC DYSPLASIA

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG

600953 INTERLEUKIN 18; IL18

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

603827 BCL2-LIKE 11; BCL2L11

605268 JUNCTOPHILIN 3; JPH3

605598 DIABETES MELLITUS, INSULIN-DEPENDENT, 18; IDDM18

605987 PROTEIN INHIBITOR OF ACTIVATED STAT3

606592 VANIN 3; VNN3

606697 ZINC FINGER PROTEIN ZK1

606698 SRY-BOX 30

606699 HELICASE WITH ZINC FINGER DOMAIN; HELZ

Clinical Synopsis for 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

Clinical Synopsis for 248700 MARDEN-WALKER SYNDROME

Clinical Synopsis for 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME

Clinical Synopsis for 276700 TYROSINEMIA, TYPE I

February 19, 2002

New Entries:

606697 ZINC FINGER PROTEIN ZK1

Changed Entries:

103275 ADRENOMEDULLIN; ADM

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1

114190 CALCITONIN RECEPTOR-LIKE GENE; CALCRL

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

143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE

160900 DYSTROPHIA MYOTONICA 1

161560 INTERLEUKIN 12A; IL12A

161561 INTERLEUKIN 12B; IL12B

168860 PATELLA APLASIA-HYPOPLASIA; PTLAH

171300 PHEOCHROMOCYTOMA

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3

218040 COSTELLO SYNDROME

227400 FACTOR V DEFICIENCY

229300 FRIEDREICH ATAXIA 1; FRDA

248300 MAL DE MELEDA

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

308300 INCONTINENTIA PIGMENTI; IP

314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG

600044 THROMBOPOIETIN; THPO

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

601224 POTOCKI-SHAFFER SYNDROME

601417 17-@BETA-HYDROXYSTEROID DEHYDROGENASE VIII; HSD17B8

601611 SOLUTE CARRIER FAMILY 14, MEMBER 2; SLC14A2

602668 DYSTROPHIA MYOTONICA 2; DM2

602671 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1

602703 KATANIN, p80 SUBUNIT, B1; KATNB1

602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7

603101 CARBOXYPEPTIDASE B2, PLASMA; CPB2

603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8;

603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5

604396 SET DOMAIN PROTEIN, BIFURCATED, 1; SETDB1

604687 PROSTAGLANDIN D2 RECEPTOR; PTGDR

604837 G PROTEIN-COUPLED RECEPTOR 44; GPR44

605154 RECEPTOR ACTIVITY-MODIFYING PROTEIN 2; RAMP2

605307 ADRENOMEDULLIN RECEPTOR; ADMR

605821 ERYTHROID-ASSOCIATED FACTOR; ERAF

606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2

606516 MUSCLEBLIND-LIKE PROTEIN; MBNL

Clinical Synopsis for 114290 CAMPOMELIC DYSPLASIA

Clinical Synopsis for 230400 GALACTOSEMIA

Clinical Synopsis for 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

Clinical Synopsis for 276700 TYROSINEMIA, TYPE I

February 19, 2002

New Entries:

606592 VANIN 3; VNN3

606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C

606694 NUCLEOPORIN, 155-KD; NUP155

606695 OPSIN 3; OPN3

606696 KATANIN, p60 SUBUNIT, A1; KATNA1

Changed Entries:

100730 CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE; CHRNG

106210 PAIRED BOX GENE 6; PAX6

118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A

118825 CHOROIDEREMIA-LIKE; CHML

126452 DOPAMINE RECEPTOR D4; DRD4

144110 HYPERHIDROSIS PALMARIS ET PLANTARIS

146880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1

147450 SUPEROXIDE DISMUTASE 1; SOD1

153700 MACULAR DYSTROPHY, VITELLIFORM; VMD2

176730 INSULIN; INS

180849 RUBINSTEIN SYNDROME

191050 TRYPTOPHANYL-tRNA SYNTHETASE; WARS

200990 ACROCALLOSAL SYNDROME; ACLS

201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF

209900 BARDET-BIEDL SYNDROME; BBS

214500 CHEDIAK-HIGASHI SYNDROME; CHS1

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

225790 ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV

227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA

232300 GLYCOGEN STORAGE DISEASE II

235200 HEMOCHROMATOSIS; HFE

236200 HOMOCYSTINURIA

242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME

268100 ENHANCED S-CONE SYNDROME; ESCS

277900 WILSON DISEASE

300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4

300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX

301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

303600 COFFIN-LOWRY SYNDROME; CLS

308840 L1 CELL ADHESION MOLECULE; L1CAM

312750 RETT SYNDROME; RTT

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600424 SOLUTE CARRIER FAMILY 19, MEMBER 1; SLC19A1

600442 AQUAPORIN 5; AQP5

600597 PHOSPHOLIPASE C-LIKE 1; PLCL1

600725 SONIC HEDGEHOG; SHH

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601283 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1

601556 ATAXIN 1; ATX1

601618 SRY-BOX 18; SOX18

602386 ZINC FINGER PROTEIN 212; ZNF212

602615 TAK1-BINDING PROTEIN 1

602703 KATANIN, p80 SUBUNIT, B1; KATNB1

603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8;

603538 KYNURENINE 3-MONOOXYGENASE; KMO

603570 VANIN 1; VNN1

603948 NUCLEOPORIN, 153-KD; NUP153

603972 ZINC FINGER PROTEIN 43; ZNF43

604290 ACERULOPLASMINEMIA

604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3

604748 SRY-BOX 13; SOX13

604975 SRY-BOX 5; SOX5

605286 CALPAIN 10; CAPN10

606592 VANIN 3; VNN3

606618 DUAL-SPECIFICITY PHOSPHATASE 14; DUSP14

606620 B-LYMPHOCYTE ACTIVATOR, MACROPHAGE-EXPRESSED

606696 KATANIN, p60 SUBUNIT, A1; KATNA1

February 16, 2002

Changed Entries:

603948 NUCLEOPORIN, 153-KD; NUP153

604646 NUCLEOPORIN, 50-KD; NUP50

605815 NUCLEOPORIN, 62-KD; NUP62

February 15, 2002

New Entries:

606693 PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND

Changed Entries:

137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG

146710 INTERLEUKIN 2 RECEPTOR, BETA; IL2RB

147680 INTERLEUKIN 2; IL2

147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA

158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14

168820 PARAOXONASE 1; PON1

171790 PHOSPHATASE, PROSTATE-SPECIFIC ACID; ACPP

211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1

226650 EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE

300292 FORKHEAD BOX P3

308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG

600805 LAMININ, ALPHA-3; LAMA3

600832 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER A; ANP32A

601265 NODAL, MOUSE, HOMOLOG OF; NODAL

602033 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 1; EML1

602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1

602552 NUCLEOPORIN, 88-KD; NUP88

602695 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12

603527 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 2, S. CEREVISIAE, HOMOLOG-LIKE 1;

604740 SOLUTE CARRIER FAMILY 39, ZINC TRANSPORTER, MEMBER 1; SLC39A1

605815 NUCLEOPORIN, 62-KD; NUP62

605914 TYPE I TRANSMEMBRANE PROTEIN FN14

606178 HEDGEHOG-INTERACTING PROTEIN; HHIP

606265 TRINUCLEOTIDE REPEAT-CONTAINING GENE 12; TNRC12

606273 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3

606655 GLYCOPROTEIN HORMONE, ALPHA-2; GPHA2

606677 LECTIN, C-TYPE, SUPERFAMILY MEMBER 11; CLECSF11

606693 PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND

February 14, 2002

New Entries:

606690 LYMPHANGIOLEIOMYOMATOSIS; LAM

Clinical Synopsis for 606688 PRION DISEASE WITH PROTRACTED COURSE

Changed Entries:

107400 PROTEASE INHIBITOR 1; PI

118955 CLATHRIN, HEAVY POLYPEPTIDE; CLTC

137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG

143100 HUNTINGTON DISEASE; HD

164160 LEPTIN; LEP

176270 PRADER-WILLI SYNDROME; PWS

176640 PRION PROTEIN; PRNP

181430 SCAPULOPERONEAL MYOPATHY; SPM

185800 SYMPHALANGISM, PROXIMAL; SYM1

191092 TUBEROUS SCLEROSIS 2 GENE; TSC2

191290 TYROSINE HYDROXYLASE; TH

192430 VELOCARDIOFACIAL SYNDROME

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

235200 HEMOCHROMATOSIS; HFE

254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

261600 PHENYLKETONURIA

300017 FILAMIN A; FLNA

309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1

600119 SARCOGLYCAN, ALPHA; SGCA

600242 CHEMOKINE (C-C) RECEPTOR 7; CCR7

600702 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A

600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2

601007 LEPTIN RECEPTOR; LEPR

601026 ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-1 SUBUNIT; AP2A1

601145 CYSTATIN B; CSTB

601628 MODIFIER OF VON WILLEBRAND FACTOR

601767 HUNTINGTIN-INTERACTING PROTEIN 1; HIP1

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602432 OPTINEURIN; OPTN

602737 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 21; SCYA21

602768 DELTA-LIKE 3; DLL3

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603803 DACHSHUND, DROSOPHILA, HOMOLOG OF; DACH

604592 T CELL IMMUNE REGULATOR 1; TCIRG1

604655 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 14; MAP3K14

604862 LECTIN, C-TYPE, LANGERHANS CELL-SPECIFIC

605284 TUBEROUS SCLEROSIS 1 GENE; TSC1

606688 PRION DISEASE WITH PROTRACTED COURSE

Clinical Synopsis for 176640 PRION PROTEIN; PRNP

Clinical Synopsis for 191092 TUBEROUS SCLEROSIS 2 GENE; TSC2

Clinical Synopsis for 191100 TUBEROUS SCLEROSIS; TS

February 13, 2002

New Entries:

606688 PRION DISEASE WITH PROTRACTED COURSE

606689 GLAUCOMA 1, OPEN ANGLE, B; GLC1B

Changed Entries:

106150 ANGIOTENSIN I; AGT

135630 INTEGRIN, BETA-1; ITGB1

137440 GERSTMANN-STRAUSSLER DISEASE; GSD

137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET; JOAG

137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG

147280 INSULIN-LIKE GROWTH FACTOR 2 RECEPTOR; IGF2R

147450 SUPEROXIDE DISMUTASE 1; SOD1

147557 INTEGRIN, BETA-4; ITGB4

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1

176640 PRION PROTEIN; PRNP

188340 THYMOCYTE ANTIGEN CD1C; CD1C

188360 THYMOCYTE ANTIGEN CD1B; CD1B

188370 THYMOCYTE ANTIGEN CD1A; CD1A

188410 THYMOCYTE ANTIGEN CD1D; CD1D

188411 THYMOCYTE ANTIGEN CD1E; CD1E

248600 MAPLE SYRUP URINE DISEASE, TYPE IA

256550 NEURAMINIDASE DEFICIENCY

276700 TYROSINEMIA, TYPE I

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

601253 CAVEOLIN 3; CAV3

601652 MYOCILIN; MYOC

601682 GLAUCOMA 1, OPEN ANGLE, C; GLC1C

602429 GLAUCOMA 1, OPEN ANGLE, D; GLC1D

602432 OPTINEURIN; OPTN

602575 LIM HOMEO BOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

602608 SOLUTE CARRIER FAMILY 22, MEMBER 2; SLC22A2

602851 VERY LARGE G PROTEIN-COUPLED RECEPTOR 1

603009 DYSFERLIN; DYSF

603797 CARBOHYDRATE SULFOTRANSFERASE 1; CHST1

603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3

604842 SOLUTE CARRIER FAMILY 22, MEMBER 3; SLC22A3

604893 ANTISENSE IGF2R

605264 SH3 DOMAIN PROTEIN 5; SH3D5

606118 HERMANSKY-PUDLAK SYNDROME GENE 3; HPS3

606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

606683 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 6; FXYD6

606684 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 7; FXYD7

Clinical Synopsis for 170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

February 12, 2002

New Entries:

606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L

606686 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1; EIF2B1

606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML

104175 GLYCOPROTEIN ALPHA-GALACTOSYLTRANSFERASE 1; GGTA1

113705 BREAST CANCER, TYPE 1; BRCA1

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

143100 HUNTINGTON DISEASE; HD

147450 SUPEROXIDE DISMUTASE 1; SOD1

169100 CHAR SYNDROME

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

231300 GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A

231500 MOVED TO 231300

301000 WISKOTT-ALDRICH SYNDROME; WAS

600393 FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

601069 ZINC FINGER PROTEIN 239; ZNF239

601411 SARCOGLYCAN, DELTA; SGCD

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1

604065 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1G SUBUNIT; CACNA1G

606118 HERMANSKY-PUDLAK SYNDROME GENE 3; HPS3

606519 PHACE ASSOCIATION

606665 OPSIN 4; OPN4

Clinical Synopsis for 231500 MOVED TO 231300

February 11, 2002

New Entries:

606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX

606682 HERMANSKY-PUDLAK SYNDROME GENE 4; HPS4

606683 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 6; FXYD6

606684 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 7; FXYD7

Changed Entries:

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET; JOAG

147870 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2

164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1

173360 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1

176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70

179520 RAS-RELATED PROTEIN 1A; RAP1A

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

203300 HERMANSKY-PUDLAK SYNDROME; HPS

208900 ATAXIA-TELANGIECTASIA; AT

209850 AUTISTIC DISORDER

251000 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY

261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2

261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1

300053 SYNAPTOBREVIN-LIKE 1; SYBL1

300188 TRINUCLEOTIDE REPEAT-CONTAINING GENE 11; TNRC11

309850 MONOAMINE OXIDASE A; MAOA

600085 PROTEIN-TYROSINE KINASE SYK; SYK

600446 ADENOSINE A2B RECEPTOR; ADORA2B

600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2

600554 INTERLEUKIN 15; IL15

600665 MELATONIN RECEPTOR 1A; MTNR1A

600807 ASTHMA

601021 NUCLEOPORIN, 98-KD; NUP98

601115 GLUTAMATE RECEPTOR, METABOTROPIC, 3; GRM3

601814 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2; FXYD2

602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1

602359 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 1; FXYD1

602705 SYNAPSIN III; SYN3

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

603023 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1

603302 ADENYLATE CYCLASE 9; ADCY9

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603401 ADAPTIN, BETA-3A; AP3B1

603597 SUPPRESSOR OF CYTOKINE SIGNALING 1

603968 POLYMERASE, DNA, ETA; POLH

604099 GLUTAMATE RECEPTOR, METABOTROPIC, 2; GRM2

604126 SUPERVILLIN; SVIL

604982 HERMANSKY-PUDLAK SYNDROME GENE 1; HPS1

604996 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 3; FXYD3

605474 TOLL-LIKE RECEPTOR 9; TLR9

606118 HERMANSKY-PUDLAK SYNDROME GENE 3; HPS3

606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8;

606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX

606683 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 6; FXYD6

February 8, 2002

Changed Entries:

114480 BREAST CANCER

123900 VILLIN 2; VIL2

126375 DNA METHYLTRANSFERASE 1; DNMT1

141900 HEMOGLOBIN--BETA LOCUS; HBB

142994 HOMEO BOX GENE HB9; HLXB9

159991 MYOGENIC FACTOR 6; MYF6

172420 PHOSPHOLIPASE C, GAMMA-1; PLCG1

176450 CURRARINO SYNDROME

182160 SIALOPHORIN; SPN

228000 FARBER LIPOGRANULOMATOSIS

251000 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY

309845 MOESIN; MSN

601056 BCL2-RELATED PROTEIN A1; BCL2A1

602172 CYTOCHROME P450, SUBFAMILY VIIIB, POLYPEPTIDE 1; CYP8B1

604896 MCKUSICK-KAUFMAN SYNDROME GENE; MKKS

605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1

605476 PHOSPHOINOSITIDE 3-KINASE ENHANCER

Clinical Synopsis for 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI

Clinical Synopsis for 303350 MASA SYNDROME

Clinical Synopsis for 601803 PALLISTER-KILLIAN SYNDROME; PKS

February 7, 2002

New Entries:

606665 OPSIN 4; OPN4

Changed Entries:

104219 ALPHA-1D-ADRENERGIC RECEPTOR; ADRA1D

104221 ALPHA-1A-ADRENERGIC RECEPTOR; ADRA1A

104222 MOVED TO 104219

124092 INTERLEUKIN 10; IL10

138160 SOLUTE CARRIER FAMILY 2, MEMBER 2; SLC2A2

150292 LAMININ, GAMMA-2; LAMC2

150310 LAMININ, BETA-3; LAMB3

160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2

163890 SYNUCLEIN, ALPHA; SNCA

168600 PARKINSON DISEASE; PD

182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB

185880 VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; VAMP1

186590 SYNTAXIN 1A; STX1A

226650 EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE

227810 FANCONI-BICKEL SYNDROME; FBS

229300 FRIEDREICH ATAXIA 1; FRDA

310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER

600140 CREB-BINDING PROTEIN; CREBBP

600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25

601179 RAS-RELATED NUCLEAR PROTEIN; RAN

601180 RAN-BINDING PROTEIN 1; RANBP1

601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3

602303 p300/CBP-ASSOCIATED FACTOR; PCAF

602362 GTPase-ACTIVATING PROTEIN, RAN, 1; RANGAP1

604420 HEMATOPOIETICALLY EXPRESSED HOMEO BOX; HHEX

604439 GRB2-ASSOCIATED BINDING PROTEIN 1; GAB1

605242 USHER SYNDROME TYPE IC GENE; USH1C

605417 DICKKOPF, XENOPUS, HOMOLOG OF, 4; DKK4

606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2

606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A

606651 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B

February 6, 2002

New Entries:

606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8;

606679 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5;

606680 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 6;

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

107748 APEX NUCLEASE; APEX

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

118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A

119530 OROFACIAL CLEFT 1; OFC1

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1

134790 FERRITIN LIGHT CHAIN; FTL

137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3

151660 LIPODYSTROPHY, FAMILIAL PARTIAL; FPLD

152430 LONGEVITY

168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1

182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB

190000 TRANSFERRIN; TF

191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1

213300 JOUBERT SYNDROME 1; JBTS1

220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1

232300 GLYCOGEN STORAGE DISEASE II

250250 CARTILAGE-HAIR HYPOPLASIA; CHH

300276 ECTODYSPLASIN RECEPTOR, X-LINKED

305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

313700 ANDROGEN RECEPTOR; AR

314850 KELL BLOOD GROUP PRECURSOR; XK

600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1

600315 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4

600435 CARDIOTROPHIN 1; CTF1

600886 HYPERFERRITINEMIA-CATARACT SYNDROME

601620 T-BOX 5; TBX5

602026 PHYTANOYL-CoA HYDROXYLASE; PHYH

602322 TELOMERASE RNA COMPONENT; TERC

602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;

603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3

604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2

604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

604824 KLOTHO; KL

605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX

605211 BARH-LIKE 1; BARHL1

606256 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7

February 5, 2002

New Entries:

606674 INFLAMMATORY BOWEL DISEASE 6; IBD6

606675 INFLAMMATORY BOWEL DISEASE 4; IBD4

606676 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 2;

606677 DENDRITIC CELL LECTIN

Changed Entries:

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

137350 GELSOLIN; GSN

141900 HEMOGLOBIN--BETA LOCUS; HBB

143100 HUNTINGTON DISEASE; HD

147683 INTERLEUKIN 13; IL13

147781 INTERLEUKIN 4 RECEPTOR; IL4R

159980 MYOGENIC FACTOR 4; MYOG

160900 DYSTROPHIA MYOTONICA 1

162200 NEUROFIBROMATOSIS, TYPE I; NF1

165161 ONCOGENE JUN-B; JUNB

176807 PROSTATE CANCER

180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65

180300 RHEUMATOID ARTHRITIS

180435 RIBONUCLEASE L; RNASEL

188840 TITIN; TTN

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

190685 DOWN SYNDROME

242650 PRIMARY CILIARY DYSKINESIA; PCD

244400 KARTAGENER SYNDROME

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300237 TRANSCRIPTION ELONGATION FACTOR A-LIKE 1; TCEAL1

300334 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 5;

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

400000 AZOOSPERMIA FACTOR 2; AZF2

590105 TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV

600702 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A

600807 ASTHMA

600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A

600985 TENASCIN-XB; TNXB

601518 PROSTATE CANCER, HEREDITARY, 1; HPC1

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;

602345 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3;

602812 H3 HISTONE FAMILY, MEMBER C; H3FC

603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5

603651 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 4;

603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;

604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G

604396 SET DOMAIN PROTEIN, BIFURCATED, 1; SETDB1

604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK

604774 ANGIOPOIETIN-LIKE 3; ANGPTL3

605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

605692 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7;

606621 ESTROGEN-RELATED RECEPTOR-BETA-LIKE 1; ESRRBL1

606632 ODOR, MALE, WOMEN'S CHOICE OF

February 4, 2002

New Entries:

606673 BETA-UREIDOPROPIONASE; UPB1

Changed Entries:

106150 ANGIOTENSIN I; AGT

115150 CARDIOFACIOCUTANEOUS SYNDROME

126453 DOPAMINE RECEPTOR D5; DRD5

146928 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB

147870 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2

162200 NEUROFIBROMATOSIS, TYPE I; NF1

164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A

165330 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3

166200 OSTEOGENESIS IMPERFECTA, TYPE I

186973 T-CELL TYROSINE KINASE EMT; EMT

191321 UBIQUITIN A-52-RESIDUE RIBOSOMAL PROTEIN FUSION PRODUCT; UBA52

209850 AUTISTIC DISORDER

210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF

212750 CELIAC DISEASE; CD

213700 CEREBROTENDINOUS XANTHOMATOSIS

215700 CITRULLINEMIA, CLASSIC

219700 CYSTIC FIBROSIS; CF

229050 FOLIC ACID, TRANSPORT DEFECT INVOLVING

261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS

264080 PROGESTERONE RESISTANCE; PGR

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

300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY

301500 FABRY DISEASE

305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC

600130 APOLIPOPROTEIN B mRNA EDITING ENZYME, CATALYTIC POLYPEPTIDE 1; APOBEC1

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

600957 ANTI-MULLERIAN HORMONE; AMH

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

601098 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C; CMT1C

601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A

602016 KRUPPEL-LIKE FACTOR 2; KLF2

602096 ALZHEIMER DISEASE, FAMILIAL, TYPE 5

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1

603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4

604663 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 6; WNT6

605498 M-PHASE PHOSPHOPROTEIN 1; MPHOSPH1

605923 SRY-BOX 8; SOX8

606352 ALSIN

606361 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5B; WNT5B

606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD

606663 LYSYL OXIDASE-LIKE 2; LOXL2

606667 G PROTEIN-COUPLED RECEPTOR 49; GPR49

February 1, 2002

New Entries:

606671 ALL1-FUSED GENE FROM CHROMOSOME 3p21

Changed Entries:

120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1

126060 DIHYDROFOLATE REDUCTASE; DHFR

126448 MOVED TO 126453

126453 DOPAMINE RECEPTOR D5; DRD5

142702 HISTATIN 3; HTN3

158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1

176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1

601064 ZINC FINGER PROTEIN 36, C3H TYPE-LIKE 1; ZFP36L1

601814 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2; FXYD2

602359 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 1; FXYD1

604996 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 3; FXYD3

605523 TRANSDUCER OF ERBB2, 1; TOB1

605608 CLAUDIN 14; CLDN14

605706 ANKYRIN REPEAT DOMAIN 3; ANKRD3

606641 BODY MASS INDEX

606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7

606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13

606669 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 5; FXYD5

Clinical Synopsis for 602080 PAGET DISEASE OF BONE; PDB