PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for February, 2004

February 27, 2004

New Entries:

608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA

608491 CYCLIN D-BINDING MYB-LIKE TRANSCRIPTION FACTOR 1; DMTF1

608492 OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY F, MEMBER 1; OR5F1

608493 OLFACTORY RECEPTOR, FAMILY 10, SUBFAMILY A, MEMBER 1; OR10A1

608494 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY D, MEMBER 2; OR2D2

608495 OLFACTORY RECEPTOR, FAMILY 6, SUBFAMILY A, MEMBER 1; OR6A1

608496 OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY I, MEMBER 1; OR5I1

608497 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY F, MEMBER 1; OR2F1

608498 ZONA PELLUCIDA-BINDING PROTEIN; ZPBP

608499 ZONA PELLUCIDA BINDING PROTEIN 2

Changed Entries:

118494 CHOLINERGIC RECEPTOR, MUSCARINIC, 3; CHRM3

118495 CHOLINERGIC RECEPTOR, MUSCARINIC, 4; CHRM4

118510 CHOLINERGIC RECEPTOR, MUSCARINIC, 1; CHRM1

138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1

155720 MELANOMA, UVEAL

164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1

168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1

181500 SCHIZOPHRENIA; SCZD

182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A

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

219700 CYSTIC FIBROSIS; CF

600880 BUDD-CHIARI SYNDROME

601682 GLAUCOMA 1, OPEN ANGLE, C; GLC1C

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

608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA

February 26, 2004

New Entries:

300480 TAK1-BINDING PROTEIN 3

608486 METASTASIS SUPPRESSOR 1; MTSS1

608487 TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5

608488 SPARC-RELATED MODULAR CALCIUM-BINDING 1; SMOC1

608489 STROMALIN 3; STAG3

608490 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 1; SLC38A1

Changed Entries:

132880 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 6; NR2F6

134797 FIBRILLIN 1; FBN1

150330 LAMIN A/C; LMNA

273300 TESTICULAR TUMORS

311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA

312600 RETINITIS PIGMENTOSA 2; RP2

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

601398 VASCULAR ENDOTHELIAL GROWTH FACTOR B; VEGFB

601769 VITAMIN D RECEPTOR; VDR

601784 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 1; ACCN1

601833 ALLOGRAFT INFLAMMATORY FACTOR 1; AIF1

604668 ZINC FINGER PROTEIN 264; ZNF264

606158 BSCL2 GENE; BSCL2

606191 FORMIN-BINDING PROTEIN 1; FNBP1

606524 FORMIN-BINDING PROTEIN 2; FNBP2

607444 SBDS GENE; SBDS

608486 METASTASIS SUPPRESSOR 1; MTSS1

608487 TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5

608488 SPARC-RELATED MODULAR CALCIUM-BINDING 1; SMOC1

February 25, 2004

New Entries:

606691 CARCINOEMBRYONIC ANTIGEN-LIKE 1; CEAL1

608483 FUSED TOES, MOUSE, HOMOLOG OF; FTS

608485 TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 2; TRAM2

Changed Entries:

100500 ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER

100678 ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2

102642 STEROL O-ACYLTRANSFERASE 1; SOAT1

108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2

182960 SPINAL MUSCULAR ATROPHY, DISTAL

200150 CHOREOACANTHOCYTOSIS; CHAC

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

269700 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY; BSCL

270685 SPASTIC PARAPLEGIA 17; SPG17

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600726 INDIAN HEDGEHOG; IHH

600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV

600862 HIV-1 REV-BINDING PROTEIN; HRB

601311 STEROL O-ACYLTRANSFERASE 2; SOAT2

605190 TRANSLOCATION-ASSOCIATING MEMBRANE PROTEIN 1; TRAM1

605645 RESISTIN-LIKE PROTEIN, BETA; RETNLB

605978 VACUOLAR PROTEIN SORTING 13A; VPS13A

606158 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY GENE 2; BSCL2

606438 HUNTINGTON DISEASE-LIKE 2; HDL2

February 24, 2004

New Entries:

607100 NEPHROCYSTIN; NPHP1

Clinical Synopsis for 300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES

Changed Entries:

107670 APOLIPOPROTEIN A-II; APOA2

109535 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5

140100 HAPTOGLOBIN; HP

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

164160 LEPTIN; LEP

185640 RIBOSOMAL PROTEIN L7a; RPL7A

205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2

256100 NEPHRONOPHTHISIS 1; NPHP1

300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2

300085 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2

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

300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES

602109 MATRILIN 3; MATN3

603197 NEUROPATHY TARGET ESTERASE

603272 CONNECTOR ENHANCER OF KSR, DROSOPHILA, HOMOLOG OF

603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

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

605552 ABDOMINAL OBESITY-METABOLIC SYNDROME

605572 ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2

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

606352 ALSIN

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

Clinical Synopsis for 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

Clinical Synopsis for 300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES

February 23, 2004

New Entries:

300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1

Changed Entries:

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

108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2

118485 CYTOCHROME P450, SUBFAMILY XIA; CYP11A

146110 HYPOGONADOTROPIC HYPOGONADISM

150330 LAMIN A/C; LMNA

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

184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1

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

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

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

300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS

300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA

300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1

305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

306190 GONADOTROPIN DEFICIENCY; GTD

308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI; KFSD

313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE; SAT

313430 SRY-BOX 3; SOX3

600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR

602537 CALPAIN 5; CAPN5

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

604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2

605817 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 3; RIPK3

606043 ZINC FINGER PROTEIN 331; ZNF331

607102 WILMS TUMOR 1 GENE; WT1

608160 SRY-BOX 9; SOX9

608441 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1

February 20, 2004

New Entries:

300474 GLYCEROL KINASE; GK

608479 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 7; SLC26A7

608480 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 8; SLC26A8

608481 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 9; SLC26A9

608482 MATRIX METALLOPROTEINASE 25; MMP25

Changed Entries:

103050 ADENYLOSUCCINASE DEFICIENCY

112500 BRACHYDACTYLY, TYPE A1; BDA1

131240 ENDOTHELIN 1; EDN1

138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR

139320 GNAS COMPLEX LOCUS; GNAS

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

182230 SEPTOOPTIC DYSPLASIA

187050 TEETH PRESENT AT BIRTH

300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA

300474 GLYCEROL KINASE; GK

306190 GONADOTROPIN DEFICIENCY; GTD

307030 HYPERGLYCEROLEMIA

601464 LYMPHOID NUCLEAR PROTEIN RELATED TO AF4; LAF4

601609 L-3-@HYDROXYACYL-CoA DEHYDROGENASE, SHORT CHAIN; HADHSC

601802 HOMEO BOX GENE EXPRESSED IN ES CELLS; HESX1

603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1

603959 CLAUDIN 16; CLDN16

604980 GTPase-ACTIVATING PROTEIN, RAC, 1; RACGAP1

608232 LEUKEMIA, CHRONIC MYELOID; CML

608382 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 3; DNAJA3

February 20, 2004

New Entries:

608477 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A3; AKR7A3

608478 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A4

Changed Entries:

603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA

603418 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A2; AKR7A2

608467 STONIN 2

608472 BETA-GALACTOSIDE ALPHA-2,6-SIALYLTRANSFERASE II

608478 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A4

February 19, 2004

New Entries:

606889 ALZHEIMER DISEASE, FAMILIAL, TYPE 4; AD4

608472 BETA-GALACTOSIDE ALPHA-2,6-SIALYLTRANSFERASE II

608474 MYOPIA 5

608475 3-@HYDROXYISOBUTYRATE DEHYDROGENASE; HIBADH

608476 TBK1-BINDING PROTEIN 1

Changed Entries:

100800 ACHONDROPLASIA; ACH

104300 ALZHEIMER DISEASE; AD

109675 SIALYLTRANSFERASE 1; SIAT1

113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I; PFHBI

118450 ALAGILLE SYNDROME; AGS

120200 COLOBOMA, OCULAR

125660 DESMIN; DES

130160 ELASTIN; ELN

144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL

160700 MYOPIA 2; MYP2

163950 NOONAN SYNDROME 1; NS1

176801 PROSAPOSIN; PSAP

177850 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT; PXE

182381 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 2;

187950 THROMBOCYTHEMIA, ESSENTIAL

188360 THYMOCYTE ANTIGEN CD1B; CD1B

191100 TUBEROUS SCLEROSIS; TS

207750 APOLIPOPROTEIN C-II DEFICIENCY

212750 CELIAC DISEASE; CD

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

219700 CYSTIC FIBROSIS; CF

222300 WOLFRAM SYNDROME

232300 GLYCOGEN STORAGE DISEASE II

245000 PAPILLON-LEFEVRE SYNDROME; PALS

248600 MAPLE SYRUP URINE DISEASE

254210 MYASTHENIA GRAVIS, FAMILIAL INFANTILE; FIMG

263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE

277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE, 1

300352 CREATINE DEFICIENCY SYNDROME, X-LINKED

302380 CATEL-MANZKE SYNDROME

304700 MOHR-TRANEBJAERG SYNDROME; MTS

600047 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2

600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1

600759 PRESENILIN 2; PSEN2

601057 PROGRAMMED CELL DEATH 6; PDCD6

601144 BRUGADA SYNDROME

601329 LIM DOMAIN KINASE 1; LIMK1

601679 GENERAL TRANSCRIPTION FACTOR II-I; GTF2I

602291 FORKHEAD BOX J1; FOXJ1

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

603072 AURORA KINASE A; AURKA

604970 AURORA KINASE B; AURKB

605918 SPONDIN 2; SPON2

606003 TRANSALDOLASE DEFICIENCY

606889 ALZHEIMER DISEASE, FAMILIAL, TYPE 4; AD4

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

608464 VG5Q GENE

608472 BETA-GALACTOSIDE ALPHA-2,6-SIALYLTRANSFERASE II

February 18, 2004

New Entries:

608470 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1

608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A

608473 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 1; ANAPC1

Changed Entries:

104311 PRESENILIN 1; PSEN1

107670 APOLIPOPROTEIN A-II; APOA2

107730 APOLIPOPROTEIN B; APOB

120360 MATRIX METALLOPROTEINASE 2; MMP2

121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER

121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE

121900 GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1

122200 CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1

123900 VILLIN 2; VIL2

133170 ERYTHROPOIETIN; EPO

138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

146930 INTERLEUKIN 8; IL8

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

159440 MYELIN PROTEIN ZERO; MPZ

162200 NEUROFIBROMATOSIS, TYPE I; NF1

174763 POLYMERASE, DNA, GAMMA; POLG

176807 PROSTATE CANCER

176960 PROTEIN KINASE C, ALPHA; PRKCA

177000 PROTOPORPHYRIA, ERYTHROPOIETIC

177061 MYRISTOYLATED ALANINE-RICH PROTEIN KINASE C SUBSTRATE; MARCKS

181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2

190196 TRANSGLUTAMINASE 2; TGM2

191160 TUMOR NECROSIS FACTOR; TNF

204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE

219000 FRASER SYNDROME

252800 ALPHA-L-IDURONIDASE; IDUA

260565 PEHO SYNDROME

300389 RETINITIS PIGMENTOSA 3; RP3

300392 WAS GENE; WAS

301000 WISKOTT-ALDRICH SYNDROME; WAS

309470 MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

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

600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE PROTEIN 1; CCL3L1

601536 NAVAJO BRAIN STEM SYNDROME

601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD

601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI

602082 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2

602544 PARKIN; PARK2

603461 CELL DIVISION CYCLE 16, S. CEREVISIAE, HOMOLOG OF; CDC16

603462 CELL DIVISION CYCLE 23; CDC23

603830 LONG QT SYNDROME 3; LQT3

603937 RETINITIS PIGMENTOSA 1 GENE; RP1

604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5

604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1

605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

606692 RING FINGER- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; RFWD1

606838 APOPTOSIS-ASSOCIATED SPECK-LIKE PROTEIN CONTAINING A CARD

606946 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; ANAPC2

606947 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 4; ANAPC4

606949 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; ANAPC7

607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA

607572 LEPROSY, SUSCEPTIBILITY TO, 2

607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I

607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3

608337 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 1

608427 PARKIN COREGULATED GENE; PACRG

608470 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1

February 18, 2004

New Entries:

608466 ACTIVATOR OF HEAT-SHOCK 90-KD PROTEIN ATPase 1; AHSA1

608467 STONIN 2

608468 CARBON CATABOLITE REPRESSION 4, S. CEREVISIAE, HOMOLOG OF; CCRN4L

608469 DEAD/H BOX 17; DDX17

Clinical Synopsis for 608390 MYOTONIA, POTASSIUM-AGGRAVATED

Changed Entries:

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4

105800 ANEURYSM, INTRACRANIAL BERRY

109535 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5

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

118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP

118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4

120920 MEMBRANE COFACTOR PROTEIN; MCP

123900 VILLIN 2; VIL2

124015 CYTOCHROME P450 REDUCTASE; POR

136430 FOLATE RECEPTOR 1, ADULT; FOLR1

143100 HUNTINGTON DISEASE; HD

147670 INSULIN RECEPTOR; INSR

150330 LAMIN A/C; LMNA

150370 LAMININ RECEPTOR 1; LAMR1

153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1

154040 RD RNA-BINDING PROTEIN; RDBP

158590 MUSCULAR ATROPHY, ADULT SPINAL

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

167414 PAIRED BOX GENE 5; PAX5

167416 PAIRED BOX GENE 9; PAX9

168350 MOVED TO 168300

168600 PARKINSON DISEASE; PD

175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

177020 PROTEINASE 3; PRTN3

178500 PULMONARY FIBROSIS, IDIOPATHIC

182960 SPINAL MUSCULAR ATROPHY, DISTAL

207410 ANTLEY-BIXLER SYNDROME; ABS

227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

235400 HEMOLYTIC-UREMIC SYNDROME; HUS

236200 HOMOCYSTINURIA

246900 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD

248370 MANDIBULOACRAL DYSPLASIA; MAD

248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT

248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB

259500 OSTEOGENIC SARCOMA

268210 RHABDOMYOSARCOMA 1; RMS1

300150 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER A5; SLC25A5

300307 T-BOX 22; TBX22

303400 CLEFT PALATE, X-LINKED; CPX

600264 ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B

600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2

600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1

600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV

600859 JTV1 GENE

601205 SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; SIX1

601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601637 CYTOCHROME P450, FAMILY 51, SUBFAMILY A, POLYPEPTIDE 1; CYP51A1

602291 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 13; FKHL13

602544 PARKIN; PARK2

602783 SPASTIC PARAPLEGIA 7 GENE; SPG7

603013 SCHIZOPHRENIA 6; SCZD6

603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA

603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP

604277 SPG4 GENE; SPG4

604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1

605357 STONED B/TFIIA-ALPHA/BETA-LIKE FACTOR

606002 SPINOCEREBELLAR ATAXIA, RECESSIVE, NON-FRIEDREICH TYPE 1

606410 ANTHRAX TOXIN RECEPTOR 1; ANTXR1

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

606761 MALONYL-CoA DECARBOXYLASE; MLYCD

606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3

607991 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 3; SLC8A3

608465 SENATAXIN

Clinical Synopsis for 160500 MYOPATHY, DISTAL 1; MPD1

Clinical Synopsis for 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

Clinical Synopsis for 168350 MOVED TO 168300

Clinical Synopsis for 170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP

Clinical Synopsis for 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP

Clinical Synopsis for 246900 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD

Clinical Synopsis for 248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT

Clinical Synopsis for 248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB

February 13, 2004

New Entries:

606504 MLN51 GENE

606692 RING FINGER- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; RFWD1

608464 VG5Q GENE

608465 SENATAXIN

Changed Entries:

123900 VILLIN 2; VIL2

125220 DEFENSIN, ALPHA, 1; DEFA1

139320 GNAS COMPLEX LOCUS; GNAS

149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME

179410 RADIXIN; RDX

191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO

228600 FIBROMATOSIS, JUVENILE HYALINE

236490 HYALINOSIS, INFANTILE SYSTEMIC

268800 SANDHOFF DISEASE

309845 MOESIN; MSN

600246 ELK4, ETS-DOMAIN PROTEIN; ELK4

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

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

600716 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601693 UNCOUPLING PROTEIN 2; UCP2

601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1

602695 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12

604378 BECLIN 1; BECN1

604522 DEFENSIN, ALPHA, 3; DEFA3

604933 MutY, E. COLI, HOMOLOG OF; MUTYH

604986 BRCA1-ASSOCIATED PROTEIN; BRAP

606002 SPINOCEREBELLAR ATAXIA, RECESSIVE, NON-FRIEDREICH TYPE 1

606692 RING FINGER- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; RFWD1

608041 ANTHRAX TOXIN RECEPTOR 2; ANTXR2

608465 SENATAXIN

Clinical Synopsis for 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME

February 12, 2004

New Entries:

607234 MAS-RELATED GENE MRGG

608463 APOPTOSIS-ANTAGONIZING TRANSCRIPTION FACTOR; AATF

Changed Entries:

120970 CONE-ROD DYSTROPHY 2; CORD2

123590 CRYSTALLIN, ALPHA-B; CRYAB

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

171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4

188400 DIGEORGE SYNDROME; DGS

192340 ARGININE VASOPRESSIN; AVP

192430 VELOCARDIOFACIAL SYNDROME

193300 VON HIPPEL-LINDAU SYNDROME; VHL

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

208050 ARTERIAL TORTUOSITY

217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM

219080 CUSHING DISEASE, ADRENAL

600156 HIRSCHSPRUNG DISEASE MODIFIER 1

600803 CHOLELITHIASIS

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

601419 DESMIN-RELATED MYOPATHY

601530 SEQUESTOSOME 1; SQSTM1

601556 ATAXIN 1; ATX1

601816 BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUM

601914 PROLINE ARGININE-RICH END LEUCINE-RICH REPEAT PROTEIN; PRELP

602054 T-BOX 1; TBX1

603150 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, DELTA SUBUNIT;

604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1

607042 CLN3 GENE; CLN3

607379 NEUROFIBROMIN 2; NF2

607981 NEDD8 ULTIMATE BUSTER 1

608441 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1

February 11, 2004

New Entries:

300477 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER A; FAM9A

300478 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER B; FAM9B

300479 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER C; FAM9C

608461 COLLAGEN, TYPE XXVII, ALPHA-1; COL27A1

608462 HIRSCHSPRUNG DISEASE MODIFIER 2

Changed Entries:

104300 ALZHEIMER DISEASE; AD

108500 EPISODIC ATAXIA, TYPE 2; EA2

126375 DNA METHYLTRANSFERASE 1; DNMT1

126453 DOPAMINE RECEPTOR D5; DRD5

142623 HIRSCHSPRUNG DISEASE

143000 HORNER SYNDROME, CONGENITAL

147720 INTERLEUKIN 1-BETA; IL1B

163905 HIGH MOBILITY GROUP BOX 1; HMGB1

185250 MATRIX METALLOPROTEINASE 3; MMP3

185620 SURFEIT 1; SURF1

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

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

245200 KRABBE DISEASE

256000 LEIGH SYNDROME; LS

272120 SUDDEN INFANT DEATH SYNDROME

590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK

600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

601995 TENASCIN-R; TNR

603099 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 1; AGPAT1

604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3

605996 DOM3, C. ELEGANS, HOMOLOG OF, Z; DOM3Z

606798 BLEPHAROSPASM, BENIGN ESSENTIAL

606875 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT, 3

607136 SPINOCEREBELLAR ATAXIA 17; SCA17

607139 FANCONI ANEMIA COMPLEMENTATION GROUP A GENE; FANCA

February 10, 2004

New Entries:

608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F

608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE

608457 CHROMOBOX HOMOLOG 7; CBX7

608458 NEUROCHONDRIN

608459 CYCLIN-DEPENDENT KINASE-LIKE 3; CDKL3

608460 ZINC FINGER PROTEIN 276; ZFP276

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

142410 TRANSCRIPTION FACTOR 1; TCF1

144650 HYPERLIPOPROTEINEMIA, TYPE V

166200 OSTEOGENESIS IMPERFECTA, TYPE I

166220 OSTEOGENESIS IMPERFECTA, TYPE IV

176980 PROTEIN KINASE C, GAMMA; PRKCG

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

189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB

190196 TRANSGLUTAMINASE 2; TGM2

191830 UROGENITAL ADYSPLASIA, HEREDITARY

194350 WT LIMB-BLOOD SYNDROME

207800 ARGININEMIA

210000 BEHR SYNDROME

259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE

300259 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY

300292 FORKHEAD BOX P3; FOXP3

304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED;

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600234 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL; HMGCS2

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

601754 UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L

602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3

603501 POLY(ADP-RIBOSE) GLYCOHYDROLASE; PARG

604834 TANK-BINDING KINASE 1; TBK1

604933 MutY, E. COLI, HOMOLOG OF; MUTYH

605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1

605361 SPINOCEREBELLAR ATAXIA 14; SCA14

606232 CHROMOSOME 22q13.3 DELETION SYNDROME

606896 DYSLEXIA, SPECIFIC, 5; DYX5

607432 LISSENCEPHALY I; LIS1

607949 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY, 1

608451 ETHE1 GENE; ETHE1

608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE

Clinical Synopsis for 119530 OROFACIAL CLEFT 1; OFC1

February 9, 2004

New Entries:

608451 ETHYLMALONIC ENCEPHALOPATHY GENE 1; ETHE1

608453 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE C; CBLC

608454 KNOBLOCH SYNDROME, TYPE II

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

123970 CYTOCHROME C

126453 DOPAMINE RECEPTOR D5; DRD5

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1

151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR

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

176805 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1; PTGS1

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

209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL

212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

224500 DYSTONIA MUSCULORUM DEFORMANS 2; DYT2

250100 METACHROMATIC LEUKODYSTROPHY

254780 MYOCLONIC EPILEPSY OF LAFORA

259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE

267750 KNOBLOCH SYNDROME; KNO

300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2

302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1

600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2

600985 TENASCIN-XB; TNXB

601253 CAVEOLIN 3; CAV3

601559 STUVE-WIEDEMANN SYNDROME

601773 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N; PTPRN

602006 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2

602473 ENCEPHALOPATHY, ETHYLMALONIC

604491 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE B; CBLB

604710 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4; LTBP4

604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3

605312 BONE MORPHOGENETIC PROTEIN, PLACENTAL

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

608118 ZINC IN BREAST MILK, REDUCED

608452 PLATELET-DERIVED GROWTH FACTOR C; PDGFC

Clinical Synopsis for 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA

Clinical Synopsis for 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME

Clinical Synopsis for 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

February 6, 2004

New Entries:

608443 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 3

608452 PLATELET-DERIVED GROWTH FACTOR C; PDGFC

Clinical Synopsis for 602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

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

Clinical Synopsis for 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2

113705 BREAST CANCER 1 GENE; BRCA1

119530 OROFACIAL CLEFT 1; OFC1

120960 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II

124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2

125660 DESMIN; DES

139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE

142983 MUSCLE SEGMENT HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; MSX1

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

176000 PORPHYRIA, ACUTE INTERMITTENT

176807 PROSTATE CANCER

185300 STURGE-WEBER SYNDROME

249500 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE

256550 NEURAMINIDASE DEFICIENCY

258480 OPSISMODYSPLASIA

261000 PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR

276000 PROTEASE, SERINE, 1; PRSS1

600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1

600185 BREAST CANCER 2 GENE; BRCA2

600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

600669 EPILEPSY, IDIOPATHIC GENERALIZED; IGE

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601530 SEQUESTOSOME 1; SQSTM1

601564 PROTEASE, SERINE, 2; PRSS2

602006 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2

602109 MATRILIN 3; MATN3

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

603363 CGG-BINDING PROTEIN 1; CGGBP1

603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1

604840 FK506-BINDING PROTEIN 8; FKBP8

605078 TAR DNA-BINDING PROTEIN; TARDBP

605238 HISTAMINE N-METHYLTRANSFERASE; HNMT

605833 BONE MINERAL DENSITY VARIATION 2

606157 PANTOTHENATE KINASE 2; PANK2

606397 USH3A GENE; USH3A

606530 CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1

606800 GLUCOSIDASE, ALPHA, ACID; GAA

606904 EPILEPSY, JUVENILE MYOCLONIC; JME

607102 WILMS TUMOR 1 GENE; WT1

607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,

607566 EPM2A GENE; EPM2A

607631 EPILEPSY, JUVENILE ABSENCE; JAE

608272 NEURAMINIDASE 1; NEU1

Clinical Synopsis for 108500 EPISODIC ATAXIA, TYPE 2; EA2

Clinical Synopsis for 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS

Clinical Synopsis for 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA

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

February 5, 2004

New Entries:

300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3

608444 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 5; MLL5

608445 SPEECH-SOUND DISORDER

608446 MYOCARDIAL INFARCTION, PREMATURE, SUSCEPTIBILITY TO

608447 CAROTID INTIMAL MEDIAL THICKNESS

608448 INFLAMMATORY BOWEL DISEASE 9; IBD9

608449 POLYPYRIMIDINE TRACT-BINDING PROTEIN 2; PTBP2

608450 B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA-EXPRESSED GENE; BLACE

Changed Entries:

104300 ALZHEIMER DISEASE; AD

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

114090 CALPASTATIN; CAST

119580 BLEPHAROCHEILODONTIC SYNDROME

124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2

125220 DEFENSIN, ALPHA, 1; DEFA1

134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1

136425 FOLATE RECEPTOR 2, FETAL; FOLR2

138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1

173900 POLYCYSTIC KIDNEYS

173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2

186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D

193300 VON HIPPEL-LINDAU SYNDROME; VHL

267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

300029 RETINITIS PIGMENTOSA 15; RP15

300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2

300085 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2

300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER

300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3

304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

516060 ATP SYNTHASE 6; MTATP6

600666 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3

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

601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1

601212 PROTEIN-TYROSINE KINASE 2, BETA; PTK2B

601402 MYELOID LEUKEMIA FACTOR 1; MLF1

602096 ALZHEIMER DISEASE, FAMILIAL, TYPE 5

602548 OPIOID RECEPTOR-LIKE 1; OPRL1

602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1

602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR

603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE

603684 LIPASE, ENDOTHELIAL; LIPG

604522 DEFENSIN, ALPHA, 3; DEFA3

605239 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4

605286 CALPAIN 10; CAPN10

606896 DYSLEXIA, SPECIFIC, 5; DYX5

607929 CHROMOSOME 7 OPEN READING FRAME 22; C7ORF22

608271 MICROTUBULE-ACTIN CROSS-LINKING FACTOR 1; MACF1

608410 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 4

February 4, 2004

New Entries:

608441 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1

608442 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 2; SYNE2

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

120700 COMPLEMENT COMPONENT 3; C3

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

133780 EXUDATIVE VITREORETINOPATHY, FAMILIAL; EVR

155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

168461 CYCLIN D1; CCND1

182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4

185300 STURGE-WEBER SYNDROME

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

227650 FANCONI ANEMIA; FA

261600 PHENYLKETONURIA

300121 DOUBLECORTIN; DCX

300156 CANCER/TESTIS ANTIGEN 1; CTAG1

312170 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1

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

602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10

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

603460 CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 1; CDK5R1

603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE; CCL4L

603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B

604087 CYTOCHROME P450, FAMILY 46, SUBFAMILY A, POLYPEPTIDE 1; CYP46A1

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

605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1

605472 USHER SYNDROME, TYPE IIC; USH2C

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

605820 NONAKA MYOPATHY; NM

607278 OSTEOFIBROUS DYSPLASIA

February 3, 2004

New Entries:

300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES

300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,

300475 CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME

608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND

608440 LACTAMASE, BETA; LACTB

Clinical Synopsis for 608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM

Changed Entries:

111680 RHESUS BLOOD GROUP, D ANTIGEN; RHD

113705 BREAST CANCER 1 GENE; BRCA1

122470 CORNELIA DE LANGE SYNDROME 1; CDL1

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

125420 DENTIN DYSPLASIA, TYPE II

125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP

136535 FORMIN; FMN

140300 HASHIMOTO THYROIDITIS

142669 HIP DYSPLASIA, BEUKES TYPE

143100 HUNTINGTON DISEASE; HD

165720 OSTEOARTHRITIS

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

191170 TUMOR PROTEIN p53; TP53

275000 GRAVES DISEASE

300104 GDP DISSOCIATION INHIBITOR 1; GDI1

300139 IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1

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

300398 B-CELL RECEPTOR-ASSOCIATED PROTEIN 31; BCAP31

300475 CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME

306400 GRANULOMATOUS DISEASE, CHRONIC; CGD

600527 EPHRIN B2; EFNB2

600618 ETS VARIANT GENE 6; ETV6

600985 TENASCIN-XB; TNXB

601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1

602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1

602297 EPHRIN B3; EFNB3

604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

606512 PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 1; PACSIN1

607095 ANAUXETIC DYSPLASIA

607139 FANCONI ANEMIA COMPLEMENTATION GROUP A GENE; FANCA

607379 NEUROFIBROMIN 2; NF2

607697 SET-BINDING FACTOR 2; SBF2

608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM

608440 LACTAMASE, BETA; LACTB

Clinical Synopsis for 208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC

Clinical Synopsis for 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME

Clinical Synopsis for 277950 WINCHESTER DISEASE

February 2, 2004

New Entries:

608438 TOUSLED-LIKE KINASE 1; TLK1

608439 TOUSLED-LIKE KINASE 2; TLK2

Changed Entries:

127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

139396 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-3; GUCY1A3

139397 GUANYLATE CYCLASE 1, SOLUBLE, BETA-3; GUCY1B3

141900 HEMOGLOBIN--BETA LOCUS; HBB

142763 H2A HISTONE FAMILY, MEMBER Z; H2AFZ

151623 LI-FRAUMENI SYNDROME; LFS

160900 DYSTROPHIA MYOTONICA 1

176801 PROSAPOSIN; PSAP

180385 LIM DOMAIN ONLY 2; LMO2

182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4

186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D

188370 THYMOCYTE ANTIGEN CD1A; CD1A

188410 THYMOCYTE ANTIGEN CD1D; CD1D

192132 ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM

208500 ASPHYXIATING THORACIC DYSTROPHY; ATD

227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

259730 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG

600418 AMPHIPHYSIN; AMPH

601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2

602322 TELOMERASE RNA COMPONENT; TERC

602384 PHOSPHOLIPASE D2; PLD2

603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE; CCL4L

603902 BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE

605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

608074 PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN; PDCD6IP

608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2