PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for August, 2003

August 29, 2003

New Entries:

608066 SCAFFOLD ATTACHMENT FACTOR B2; SAFB2

608067 CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF

608068 NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE

Changed Entries:

103072 ADENYLATE CYCLASE 1; ADCY1

103730 ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH3

131240 ENDOTHELIN 1; EDN1

131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB

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

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

147640 INTERFERON, BETA-1; IFNB1

147660 INTERFERON, ALPHA-1; IFNA1

155720 MELANOMA, UVEAL

166710 OSTEOPOROSIS, INVOLUTIONAL

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

172420 PHOSPHOLIPASE C, GAMMA-1; PLCG1

180300 RHEUMATOID ARTHRITIS; RA

191170 TUMOR PROTEIN p53; TP53

258660 OPTIC NEUROPATHY, ANTERIOR ISCHEMIC

300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

300377 DYSTROPHIN; DMD

313700 ANDROGEN RECEPTOR; AR

516006 COMPLEX I, SUBUNIT ND6; MTND6

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

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

601441 DIACYLGLYCEROL KINASE, ZETA, 104-KD: DGKZ

602895 SCAFFOLD ATTACHMENT FACTOR B; SAFB

603422 LIM DOMAIN PROTEIN RIL

603684 LIPASE, ENDOTHELIAL; LIPG

604131 THALASSEMIAS

604564 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 3; MGST3

August 29, 2003

New Entries:

607936 EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF

608064 KELCH-LIKE 5; KLHL5

608065 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 4; SLC38A4

Changed Entries:

114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC

133430 ESTROGEN RECEPTOR 1; ESR1

140300 HASHIMOTO THYROIDITIS

164761 RET PROTOONCOGENE; RET

164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS

171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

300008 CHLORIDE CHANNEL 5; CLCN5

300348 KELCH-LIKE 4; KLHL4

600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7

600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V

601311 STEROL O-ACYLTRANSFERASE 2; SOAT2

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4

602917 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1

603961 SEMAPHORIN 3A; SEMA3A

604425 LIM HOMEO BOX GENE 8

604437 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 3; SLC38A3

604610 RECQ PROTEIN-LIKE 3; RECQL3

604876 THYROID HORMONE-RESPONSIVE GENE ZAKI4; ZAKI4

605102 MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2

605172 PROSTAGLANDIN E SYNTHASE; PTGES

605180 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 2; SLC38A2

605478 SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN

606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC

607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS

607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G

608058 ISLET-SPECIFIC GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN

August 27, 2003

New Entries:

608059 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 7; HES7

608060 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 4

608061 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 40, YEAST, HOMOLOG OF;

608062 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 1; DCDC1

608063 BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF

Changed Entries:

101800 ACRODYSOSTOSIS

103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

103581 ALBRIGHT HEREDITARY OSTEODYSTROPHY 2

109535 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5

113300 BRACHYDACTYLY, TYPE E; BDE

139320 GNAS COMPLEX LOCUS; GNAS

142989 HOMEO BOX D13; HOXD13

143100 HUNTINGTON DISEASE; HD

158340 MUCIN 1, TRANSMEMBRANE; MUC1

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

164160 LEPTIN; LEP

166350 OSSEOUS HETEROPLASIA, PROGRESSIVE

168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1

191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1

203330 PSEUDOHYPOPARATHYROIDISM, TYPE II

211900 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA

212138 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER

213600 FAHR DISEASE

218040 COSTELLO SYNDROME

234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN

275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION

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

300276 ECTODYSPLASIN RECEPTOR, X-LINKED

300415 MYOTUBULARIN; MTM1

300800 MOVED TO 103580

307800 HYPOPHOSPHATEMIA, X-LINKED

600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME

600798 HERPESVIRUS ENTRY MEDIATOR B; HVEB

600846 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4

601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5

601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB

604095 ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR; EDAR

605018 CYLINDROMATOSIS GENE; CYLD1

607046 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF;

August 26, 2003

New Entries:

608058 ISLET-SPECIFIC GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN

Clinical Synopsis for 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB

Clinical Synopsis for 607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1

Clinical Synopsis for 608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY

Changed Entries:

123840 PEPTIDYL-PROLYL ISOMERASE A; PPIA

131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB

135600 FIBRONECTIN 1; FN1

138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2

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

142623 HIRSCHSPRUNG DISEASE

153450 LYSOZYME; LYZ

162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1

164761 RET PROTOONCOGENE; RET

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

192975 INTEGRIN, ALPHA-4; ITGA4

235000 HEMIHYPERTROPHY

248600 MAPLE SYRUP URINE DISEASE, TYPE IA

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

601496 GDNF FAMILY RECEPTOR ALPHA-1; GFRA1

601626 ACUTE MYELOGENOUS LEUKEMIA, FAMILIAL; AML

602229 SRY-BOX 10; SOX10

602499 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA

604149 SARCOGLYCAN, EPSILON; SGCE

607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1

Clinical Synopsis for 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

Clinical Synopsis for 103581 ALBRIGHT HEREDITARY OSTEODYSTROPHY 2; AHO2

Clinical Synopsis for 203330 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

Clinical Synopsis for 277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2

Clinical Synopsis for 300800 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

Clinical Synopsis for 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME

August 25, 2003

New Entries:

608056 LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY,

608057 DNASE2-LIKE ACID DNase

Changed Entries:

120360 MATRIX METALLOPROTEINASE 2; MMP2

126350 DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141900 HEMOGLOBIN--BETA LOCUS; HBB

147892 DEIODINASE, IODOTHYRONINE, TYPE I; DIO1

150330 LAMIN A/C; LMNA

152422 LOCUS CONTROL REGION, ALPHA

152424 LOCUS CONTROL REGION, BETA

152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR

155720 MELANOMA, UVEAL

157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP

188825 TISSUE INHIBITOR OF METALLOPROTEINASE 2; TIMP2

189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1

231670 GLUTARICACIDEMIA I

231680 MULTIPLE ACYL-CoA DEHYDROGENATION DEFICIENCY; MADD

248370 MANDIBULOACRAL DYSPLASIA; MAD

248600 MAPLE SYRUP URINE DISEASE, TYPE IA

253220 MUCOPOLYSACCHARIDOSIS TYPE VII

600754 MATRIX METALLOPROTEINASE 14; MMP14

600923 PROTOPORPHYRINOGEN OXIDASE; PPOX

602104 SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2

603605 SMALL INDUCIBLE CYTOKINE SUBFAMILY E, MEMBER 1; SCYE1

August 25, 2003

Changed Entries:

116953 CYCLIN-DEPENDENT KINASE 2; CDK2

130130 ELASTASE 2; ELA2

147020 IMMUNOGLOBULIN MU; IGHM

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

177850 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

203300 HERMANSKY-PUDLAK SYNDROME; HPS

229100 FORMIMINOTRANSFERASE DEFICIENCY

264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE

275000 GRAVES DISEASE

300009 DENT DISEASE

300389 RETINITIS PIGMENTOSA 3; RP3

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

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

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601523 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10

601665 OBESITY

603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6

603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1

604440 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR A; CIDEA

605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5

605516 CADHERIN 23; CDH23

606806 FORMIMINOTRANSFERASE CYCLODEAMINASE; FTCD

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

August 21, 2003

Changed Entries:

114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A

121010 PRO-PLATELET BASIC PROTEIN; PPBP

122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6

123930 CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6; CYP2B6

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

140300 HASHIMOTO THYROIDITIS

142410 TRANSCRIPTION FACTOR 1; TCF1

147390 INHIBIN, BETA B; INHBB

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

147620 INTERLEUKIN 6; IL6

152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE

165180 MAS1 ONCOGENE; MAS1

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

232300 GLYCOGEN STORAGE DISEASE II

275000 GRAVES DISEASE

305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP

600338 ARYLACETAMIDE DEACETYLASE; AADAC

601653 EYES ABSENT 1; EYA1

602183 BAGPIPE HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1

602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2

602368 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 2; GRID2

602837 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 1; DNAJA1

603470 ARGININOSUCCINATE SYNTHETASE; ASS

603745 SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3

604378 BECLIN 1; BECN1

604842 SOLUTE CARRIER FAMILY 22, MEMBER 3; SLC22A3

604975 SRY-BOX 5; SOX5

605822 SPONDYLOOCULAR SYNDROME, AUTOSOMAL RECESSIVE

606092 DOPAMINE RECEPTOR-INTERACTING PROTEIN, 78-KD

606725 CLN6 GENE; CLN6

606845 PDZ PROTEIN INTERACTING SPECIFICALLY WITH TC10

607114 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 33; ADAM33

607257 SRY-BOX 6; SOX6

607965 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1;

607966 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2;

607967 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3;

Mini-MIM for 232300 GLYCOGEN STORAGE DISEASE II

August 20, 2003

New Entries:

300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS

608054 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 7; CYP2A7

608055 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 13; CYP2A13

Changed Entries:

108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1

114890 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5; CEACAM5

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

122700 COUMARIN RESISTANCE

122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6

123930 CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6; CYP2B6

123960 MOVED TO 122720

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19

124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2

124070 CYTOCHROME P450, SUBFAMILY IIF, POLYPEPTIDE 1; CYP2F1

124092 INTERLEUKIN 10; IL10

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

126452 DOPAMINE RECEPTOR D4; DRD4

139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR

139250 GROWTH HORMONE 1; GH1

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1

155720 MELANOMA, UVEAL

159900 MYOCLONIC DYSTONIA

160900 DYSTROPHIA MYOTONICA 1

165060 TRANSFER RNA PHOSPHOSERINE; TRSP

168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1

170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

176640 PRION PROTEIN; PRNP

201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

231680 MULTIPLE ACYL-CoA DEHYDROGENATION DEFICIENCY; MADD

248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL

274180 THROMBOXANE A SYNTHASE 1; TBXAS1

300390 CHOROIDEREMIA GENE; CHM

600338 ARYLACETAMIDE DEACETYLASE; AADAC

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

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601696 NOVELTY SEEKING PERSONALITY TRAIT

602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4

602239 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 1; CYP26A1

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

603009 DYSFERLIN; DYSF

603680 SPINOCEREBELLAR ATAXIA 8; SCA8

604149 SARCOGLYCAN, EPSILON; SGCE

604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1

605059 MOVED TO 123930

605552 ABDOMINAL OBESITY-METABOLIC SYNDROME

606463 GLUCOSIDASE, ACID BETA; GBA

August 19, 2003

New Entries:

608051 MACULAR DYSTROPHY, RETINAL, 2, BULL'S EYE

608052 TORSIN 2A; TOR2A

608053 ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA

Clinical Synopsis for 608029 CEREBELLAR ATAXIA 3

Clinical Synopsis for 608051 MACULAR DYSTROPHY, RETINAL, 2, BULL'S EYE

Changed Entries:

100740 ACETYLCHOLINESTERASE; ACHE

104260 ALPHA-2B-ADRENERGIC RECEPTOR; ADRA2B

106210 ANIRIDIA, TYPE II; AN2

107741 APOLIPOPROTEIN E; APOE

118400 CHERUBISM

118490 CHOLINE ACETYLTRANSFERASE; CHAT

118945 CILIARY NEUROTROPHIC FACTOR; CNTF

119915 CLUSTER HEADACHE, FAMILIAL

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1

128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1

130410 ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE; ETFB

132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1

143100 HUNTINGTON DISEASE; HD

145000 HYPERPARATHYROIDISM 1; HRPT1

147760 INTERLEUKIN 1-ALPHA; IL1A

153700 MACULAR DYSTROPHY, VITELLIFORM; VMD

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

166200 OSTEOGENESIS IMPERFECTA, TYPE I

173610 SELECTIN P; SELP

189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1

209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1

211980 LUNG CANCER

218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY

219700 CYSTIC FIBROSIS; CF

231675 ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH

231680 MULTIPLE ACYL-CoA DEHYDROGENATION DEFICIENCY; MADD

300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F

516005 COMPLEX I, SUBUNIT ND5; MTND5

516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1

535000 LEBER OPTIC ATROPHY

600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST

600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2

601693 UNCOUPLING PROTEIN 2; UCP2

602432 OPTINEURIN; OPTN

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

606845 PDZ PROTEIN INTERACTING SPECIFICALLY WITH TC10

607108 PAIRED BOX GENE 6; PAX6

608051 MACULAR DYSTROPHY, RETINAL, 2, BULL'S EYE

Clinical Synopsis for 220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

August 18, 2003

New Entries:

608045 REPRESSOR OF TELOMERASE EXPRESSION 1

608046 HRD1, S. CEREVISIAE, HOMOLOG OF

608047 UBIQUITIN-PROTEIN LIGASE E3B

608048 SNF2, LINKER HISTONE, PHD FINGER, RING FINGER, AND HELICASE DOMAINS-CONTAINING

608049 AUTISM, SUSCEPTIBILITY TO, 4

608050 TORSIN 1B; TOR1B

Changed Entries:

103072 ADENYLATE CYCLASE 1; ADCY1

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1

120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1

137800 GLIOMA OF BRAIN, FAMILIAL

138032 GLUCAGON-LIKE PEPTIDE 1 RECEPTOR; GLP1R

153700 MACULAR DYSTROPHY, VITELLIFORM; VMD

165720 OSTEOARTHRITIS

254090 MUSCULAR DYSTROPHY, SCLEROATONIC

272800 TAY-SACHS DISEASE; TSD

300425 AUTISM, X-LINKED

601955 CYCLIN-DEPENDENT KINASE 7; CDK7

601959 SERINE/THREONINE PROTEIN KINASE 2; STK2

602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2

602575 LIM HOMEO BOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

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

602882 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 2; LECT2

604612 NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B

605583 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25

607150 FIFTH EWING SARCOMA VARIANT

Clinical Synopsis for 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

August 15, 2003

New Entries:

608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY

608029 CEREBELLAR ATAXIA 3

608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT

608034 ASPARTOACYLASE; ASPA

608042 C2 DOMAIN-CONTAINING PROTEIN JFC1

608043 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE

608044 SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8

Changed Entries:

103780 ALCOHOLISM

104620 AMINOACYLASE 1; ACY1

110900 BLOOD GROUP--KELL-CELLANO SYSTEM; KEL

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

126451 DOPAMINE RECEPTOR D3; DRD3

131530 EPIDERMAL GROWTH FACTOR; EGF

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

139320 GNAS COMPLEX LOCUS; GNAS

162060 GROWTH ASSOCIATED PROTEIN 43; GAP43

162640 NEUROPEPTIDE Y; NPY

177900 PSORIASIS SUSCEPTIBILITY

181500 SCHIZOPHRENIA; SCZD

182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),

203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

271900 CANAVAN DISEASE

277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2

602286 STEROL C5-DESATURASE-LIKE; SC5DL

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB

603745 SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3

607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1

608029 CEREBELLAR ATAXIA 3

608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT

608034 ASPARTOACYLASE; ASPA

August 14, 2003

New Entries:

608038 p21-ACTIVATED KINASE 7; PAK7

608039 NYD-SP16

608040 CAPILLARY MORPHOGENESIS GENE 1

608041 CAPILLARY MORPHOGENESIS GENE 2

Changed Entries:

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

131530 EPIDERMAL GROWTH FACTOR; EGF

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG;

181500 SCHIZOPHRENIA; SCZD

193300 VON HIPPEL-LINDAU SYNDROME; VHL

254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1

263400 ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN

270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS

601185 STANNIOCALCIN 1; STC1

601540 BROMODOMAIN-CONTAINING PROTEIN 2; BRD2

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601920 JAGGED 1; JAG1

601922 ANGIOPOIETIN 2; ANGPT2

602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1

604490 SACSIN; SACS

604763 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12; ARHGEF12

606904 EPILEPSY, JUVENILE MYOCLONIC; JME

August 13, 2003

New Entries:

608035 MELANOMA, CUTANEOUS MALIGNANT, 4

608036 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4

608037 CHONDROITIN SULFATE GLUCURONYLTRANSFERASE

Changed Entries:

109150 MACHADO-JOSEPH DISEASE; MJD

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

137580 GILLES DE LA TOURETTE SYNDROME; GTS

139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3

142461 HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

184850 STIFF MAN SYNDROME, HEREDITARY FORM OF

210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY

210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY

256000 LEIGH SYNDROME; LS

270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

600337 BRADYKININ RECEPTOR B1; BDKRB1

600418 AMPHIPHYSIN; AMPH

600493 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 1; EMR1

601283 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

601688 15-@HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD

601866 SEMAPHORIN 4D; SEMA4D

601959 SERINE/THREONINE PROTEIN KINASE 2; STK2

601983 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 1; MAP4K1

603166 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 2; MAP4K2

604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8

604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT

604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2

605286 CALPAIN 10; CAPN10

605337 FACTOR H-RELATED GENE 4; FHR4

605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; ARHQ

606938 UROPORPHYRINOGEN III SYNTHASE; UROS

607584 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24

607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9

607923 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 91-KD; SNAP91

608036 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4

August 12, 2003

New Entries:

300450 FETAL AND ADULT TESTIS-EXPRESSED GENE

608013 GAUCHER DISEASE, PERINATAL LETHAL

608030 AMYOTROPHIC LATERAL SCLEROSIS 6

608031 AMYOTROPHIC LATERAL SCLEROSIS 7

608032 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 2

Changed Entries:

101200 APERT SYNDROME

104311 PRESENILIN 1; PSEN1

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1

127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA

144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK

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

159900 MYOCLONIC DYSTONIA

164200 OCULODENTODIGITAL DYSPLASIA; ODDD

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

176262 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

176266 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

188250 THYMIDINE KINASE, MITOCHONDRIAL; TK2

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME

254130 MIYOSHI MYOPATHY; MM

256731 CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5

600514 REELIN; RELN

600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1

601142 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER

604149 SARCOGLYCAN, EPSILON; SGCE

605820 NONAKA MYOPATHY; NM

607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1

607606 KERATIN 9; KRT9

607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3

608028 THAI SYMPHALANGISM SYNDROME

Clinical Synopsis for 105210 AMYLOIDOSIS VII

Clinical Synopsis for 204300 CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4

Clinical Synopsis for 210900 BLOOM SYNDROME; BLM

Clinical Synopsis for 603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix

August 11, 2003

New Entries:

300449 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS

608022 VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS

608028 THAI SYMPHALANGISM SYNDROME

Changed Entries:

149100 KNUCKLE PADS

300032 ATR-X GENE; ATRX

300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

313700 ANDROGEN RECEPTOR; AR

600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1

603273 TUMOR PROTEIN p73-LIKE; TP73L

608028 THAI SYMPHALANGISM SYNDROME

August 8, 2003

New Entries:

608023 DEAD/H BOX 56; DDX56

608024 PEROXISOMAL D3,D2-ENOYL-CoA ISOMERASE; PECI

608025 NEUROBLASTOMA-AMPLIFIED GENE

608026 HYPERTENSIVE NEPHROPATHY

Changed Entries:

103020 ADENYLATE KINASE 2; AK2

105210 AMYLOIDOSIS VII

107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1

138090 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD

139314 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-15; GNA15

147770 JOHNSON NEUROECTODERMAL SYNDROME

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

176300 TRANSTHYRETIN; TTR

180476 RIBOSOMAL PROTEIN S13; RPS13

203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

211180 BOWEN HUTTERITE SYNDROME

275400 TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION

300205 EMOPAMIL-BINDING PROTEIN; EBP

300446 OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE

314850 KELL BLOOD GROUP PRECURSOR; XK

600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1

603601 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, ALPHA; PIK3C2A

603751 ENDOTHELIAL DIFFERENTIATION GENE 6; EDG6

603780 RECQ PROTEIN-LIKE 4; RECQL4

604303 ACTIN-LIKE 7A; ACTL7A

604304 ACTIN-LIKE 7B; ACTL7B

604610 RECQ PROTEIN-LIKE 3; RECQL3

604611 RECQ PROTEIN-LIKE 2; RECQL2

604785 CATENIN, ALPHA-LIKE, 1; CTNNAL1

606484 MYOTROPHIN; MTPN

607574 ARYLSULFATASE A; ARSA

607782 LUC7, S. CEREVISIAE, HOMOLOG OF; LUC7L

608020 NUCLEOBINDIN 2; NUCB2

August 7, 2003

New Entries:

300446 OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE

300447 HOMEO BOX PROTEIN, PEPP SUBFAMILY, 2

608014 PROTEIN KINASE H11

608015 E2-INDUCED GENE 4

608016 E2-INDUCED GENE 2

608017 E2-INDUCED GENE 5

608020 NUCLEOBINDIN 2; NUCB2

Changed Entries:

120920 MEMBRANE COFACTOR PROTEIN; MCP

138079 GLUCOKINASE; GCK

142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10

182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),

186770 HOMEO BOX 11; HOX11

600004 EPHRIN RECEPTOR EphA5; EPHA5

603347 NEURONAL PAS DOMAIN PROTEIN 2; NPAS2

605873 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 10; KCNK10

607642 RETINOIC ACID-INDUCED GENE 1; RAI1

608014 PROTEIN KINASE H11

608020 NUCLEOBINDIN 2; NUCB2

August 6, 2003

New Entries:

300445 H2A HISTONE FAMILY, MEMBER B; H2AFB

607421 THIOREDOXIN DOMAIN-CONTAINING 3; TXNDC3

608011 NUCLEOSTEMIN

608012 PROTEIN DISULFIDE ISOMERASE, PANCREATIC; PDIP

608018 PANCREASIN

608019 TNFAIP3-INTERACTING PROTEIN 3; TNIP3

608021 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING

Changed Entries:

112261 BONE MORPHOGENETIC PROTEIN 2; BMP2

126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2

128990 EARLY GROWTH RESPONSE 1; EGR1

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

139390 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2; GNB2

148060 KERATIN 8; KRT8

155255 MEDULLOBLASTOMA

162200 NEUROFIBROMATOSIS, TYPE I; NF1

166200 OSTEOGENESIS IMPERFECTA, TYPE I

180200 RETINOBLASTOMA; RB1

254200 MYASTHENIA GRAVIS; MG

600445 ADENOSINE A3 RECEPTOR; ADORA3

601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8

601258 CYTOCHROME P450, SUBFAMILY IIJ, POLYPEPTIDE 2; CYP2J2

601955 CYCLIN-DEPENDENT KINASE 7; CDK7

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

602505 PAXILLIN; PXN

603540 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1

603936 GROWTH/DIFFERENTIATION FACTOR 11; GDF11

603961 SEMAPHORIN 3A; SEMA3A

603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A

605427 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4;

605933 DENDRITIC CELL-SPECIFIC TRANSMEMBRANE PROTEIN

606981 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-2; GNG2

607070 BLU GENE

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H

607961 SEMAPHORIN 7A; SEMA7A

August 5, 2003

New Entries:

608007 PLECKSTRIN 2; PLEK2

608008 ANNEXIN A10; ANXA10

608009 ADENYLATE KINASE 5; AK5

608010 NPC1-LIKE 1; NPC1L1

Changed Entries:

131320 GATA-BINDING PROTEIN 3; GATA3

133430 ESTROGEN RECEPTOR 1; ESR1

147570 INTERFERON, GAMMA; IFNG

147780 INTERLEUKIN 4; IL4

173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1

190930 TROPOMODULIN; TMOD

191160 TUMOR NECROSIS FACTOR; TNF

208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY

602715 LEIOMODIN 1; LMOD1

603217 SYNTAXIN 7; STX7

604895 T-BOX 21; TBX21

605112 TROPOMODULIN 3; TMOD3

606892 SYNTAXIN 12; STX12

607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1

607762 KIN OF IRRE-LIKE 2; KIRREL2

August 4, 2003

Changed Entries:

104300 ALZHEIMER DISEASE; AD

107930 AROMATIC L-AMINO ACID DECARBOXYLASE; AADC

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

138090 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD

138100 MOVED TO 138090

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

151740 ANNEXIN A2; ANXA2

164343 EARLY B-CELL FACTOR; EBF

176763 PEROXIREDOXIN 1; PRDX1

182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A

193245 VOLTAGE-DEPENDENT ANION CHANNEL 2; VDAC2

233420 GONADAL DYSGENESIS, XY TYPE

600516 BCL2 ANTAGONIST KILLER 1; BAK1

600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1

601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1

601255 AXONAL TRANSPORTER OF SYNAPTIC VESICLES; ATSV

602572 ANNEXIN A11; ANXA11

602573 ANNEXIN A13; ANXA13

603072 AURORA KINASE A; AURKA

603319 ANNEXIN A9; ANXA9

604023 MOVED TO 162662

604688 A-KINASE ANCHOR PROTEIN 5; AKAP5

604931 CORTISONE REDUCTASE DEFICIENCY

604951 6-@PHOSPHOGLUCONOLACTONASE; PGLS

604970 AURORA KINASE B; AURKB

606665 OPSIN 4; OPN4

August 1, 2003

Changed Entries:

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3

176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA

194050 WILLIAMS-BEUREN SYNDROME; WBS

204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE

230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

256450 NESIDIOBLASTOSIS OF PANCREAS

272800 TAY-SACHS DISEASE; TSD

305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600635 THYROID TRANSCRIPTION FACTOR 1; TITF1

603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A

606869 HEXOSAMINIDASE A; HEXA

607042 CLN3 GENE; CLN3

607323 DUANE-RADIAL RAY SYNDROME; DRRS

607343 SAL-LIKE 4; SALL4

607574 ARYLSULFATASE A; ARSA

607998 CLN2 GENE; CLN2