PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for June, 2003

June 30, 2003

New Entries:

300441 SH3 PROTEIN EXPRESSED IN LYMPHOCYTES

300442 TARP SYNDROME

607928 CASK-INTERACTING PROTEIN, 98-KD

607930 CYTOKINE-LIKE PROTEIN C17

607931 ATAXIN 2 DOMAIN PROTEIN

607932 ANOPHTHALMIA WITH POLYDACTYLY

607933 SOLUTE CARRIER FAMILY 7, MEMBER 11; SLC7A11

Changed Entries:

118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT

158070 SOLUTE CARRIER FAMILY 3 (ACTIVATOR OF DIBASIC AND NEUTRAL AMINO ACID

176920 PROTEUS SYNDROME

235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME

600565 NEUREXIN 1; NRXN1

600566 NEUREXIN 2; NRXN2

600567 NEUREXIN 3; NRXN3

601269 COMPLEMENT COMPONENT C1q-BINDING PROTEIN; C1QBP

602368 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 2; GRID2

June 27, 2003

New Entries:

300440 NUCLEAR FACTOR KAPPA-B-REPRESSING FACTOR

607926 HOST CELL FACTOR 2

607927 ANKYRIN REPEATS- AND FYVE DOMAIN-CONTAINING PROTEIN 1; ANKFY1

Changed Entries:

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

131195 ENDOGLIN; ENG

137035 GALANIN; GAL

139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR

146680 INSULIN-DEGRADING ENZYME; IDE

148060 KERATIN 8; KRT8

148070 KERATIN 18; KRT18

148180 FIBROBLAST GROWTH FACTOR 7; FGF7

164017 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRPA1

164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT

165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3

175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

176640 PRION PROTEIN; PRNP

215600 CIRRHOSIS, FAMILIAL

277000 VAGINA, ABSENCE OF

277440 VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL

300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

309900 MUCOPOLYSACCHARIDOSIS TYPE II

600364 GUANYLATE CYCLASE ACTIVATOR 1A; GUCA1A

601665 OBESITY

603030 TOLL-LIKE RECEPTOR 4; TLR4

604447 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607833 TACHYKININ 4; TAC4

607871 F-BOX ONLY PROTEIN 11; FBXO11

June 26, 2003

New Entries:

607923 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 91-KD; SNAP91

607924 ALPHA GENE

607925 B- AND T-LYMPHOCYTE ATTENUATOR

Clinical Synopsis for 156225 LAMININ, ALPHA-2; LAMA2

Clinical Synopsis for 300438 HYDROXYL-CoA DEHYDROGENASE DEFICIENCY

Clinical Synopsis for 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

Changed Entries:

103600 ALBUMIN; ALB

113705 BREAST CANCER, TYPE 1; BRCA1

138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1

143100 HUNTINGTON DISEASE; HD

148060 KERATIN 8; KRT8

148070 KERATIN 18; KRT18

151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC

162640 NEUROPEPTIDE Y; NPY

182120 SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC

182309 SOLUTE CARRIER FAMILY 34 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER

190196 TRANSGLUTAMINASE 2; TGM2

194050 WILLIAMS-BEUREN SYNDROME; WBS

194200 WOLFF-PARKINSON-WHITE SYNDROME

240600 GLYCOGEN STORAGE DISEASE 0

276903 MYOSIN VIIA; MYO7A

312865 SHORT STATURE HOMEO BOX; SHOX

600212 FATTY ACID SYNTHASE; FASN

600744 T-CELL TRANSCRIPTION FACTOR EB; TFEB

601663 ESTROGEN RECEPTOR 2; ESR2

602859 PEROXISOME BIOGENESIS FACTOR 10; PEX10

603025 PHOSPHATIDYLINOSITOL-BINDING CLATHRIN ASSEMBLY PROTEIN; PICALM

603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1

604271 SHORT STATURE; SS

604322 SOLUTE CARRIER FAMILY 17, MEMBER 5; SLC17A5

604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4

606256 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7

607796 PHD FINGER PROTEIN 11; PHF11

Clinical Synopsis for 263570 POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD

June 25, 2003

New Entries:

607920 CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY

607921 RETINITIS PIGMENTOSA 30

607922 ALPHA-1,4-GALACTOSYLTRANSFERASE; A4GALT

Changed Entries:

114480 BREAST CANCER

121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE

142704 HISTIDINE DECARBOXYLASE; HDC

150330 LAMIN A/C; LMNA

204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE

214100 ZELLWEGER SYNDROME; ZS

300019 HOST CELL FACTOR C1; HCFC1

600852 RETINITIS PIGMENTOSA 17; RP17

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

601620 T-BOX 5; TBX5

602544 PARKIN; PARK2

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

603094 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 3;

603149 INTERLEUKIN 17; IL17

606764 GASTROINTESTINAL STROMAL TUMOR; GIST

607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

607643 FASCIN, SEA URCHIN, HOMOLOG OF, 2; FSCN2

607893 OVARIAN CANCER, EPITHELIAL, SUSCEPTIBILITY TO

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

607920 CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY

607921 RETINITIS PIGMENTOSA 30

June 24, 2003

New Entries:

606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA

607910 KINESIN FAMILY MEMBER 9; KIF9

607911 EPM2A-INTERACTING PROTEIN 1; EPM2AIP1

607912 SELENOPROTEIN T

607913 GLUTATHIONE PEROXIDASE 6; GPX6

607914 SELENOPROTEIN H

607915 SELENOPROTEIN I

607916 SELENOPROTEIN K

607917 SELENOPROTEIN O

607918 SELENOPROTEIN S

607919 SELENOPROTEIN V

Changed Entries:

107285 SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI

138040 GLUCOCORTICOID RECEPTOR; GCCR

138720 GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE; GP1BB

142710 HISTONE 1, H1C; HIST1H1C

162150 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1

169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM

173511 GLYCOPROTEIN V, PLATELET; GP5

173515 GLYCOPROTEIN IX, PLATELET; GP9

173900 POLYCYSTIC KIDNEYS

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

177820 PSEUDO-VON WILLEBRAND DISEASE

179605 RETINAL DEGENERATION, SLOW; RDS

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

192430 VELOCARDIOFACIAL SYNDROME

193400 VON WILLEBRAND DISEASE

219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL

231200 GIANT PLATELET SYNDROME

252011 COMPLEX II, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

300032 ATR-X GENE; ATRX

300377 DYSTROPHIN; DMD

600164 GTP-BINDING MITOGEN-INDUCED T-CELL PROTEIN; GEM

600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2

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

600857 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN; SDHA

602098 POLO-LIKE KINASE; PLK

602607 SOLUTE CARRIER FAMILY 22, MEMBER 1; SLC22A1

604683 KINESIN FAMILY MEMBER 3A; KIF3A

604807 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN

605378 ALADIN; AAAS

606216 SELENOPROTEIN X, 1; SEPX1

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

606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA

606928 BONE MINERAL DENSITY VARIATION 3

607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA

607912 SELENOPROTEIN T

607913 GLUTATHIONE PEROXIDASE 6; GPX6

June 23, 2003

New Entries:

607902 RNA, U TRANSPORTER 1; RNUT1

607903 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH

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

607905 ALG2, S. CEREVISIAE, HOMOLOG OF

607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii

607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP

607908 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 2; LIMS2

607909 ORNITHINE DECARBOXYLASE ANTIZYME INHIBITOR; OAZIN

Changed Entries:

103320 AGRIN; AGRN

107741 APOLIPOPROTEIN E; APOE

110800 BLOOD GROUP--I SYSTEM; Ii

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

120502 BRANCHIOOTIC SYNDROME 2

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

142340 HERNIA, DIAPHRAGMATIC

146660 INTERLEUKIN 7; IL7

151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1

155050 MAXILLONASAL DYSPLASIA, BINDER TYPE

155555 MELANOCORTIN 1 RECEPTOR; MC1R

164690 V-ABL ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ABL2

168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1

168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH

168600 PARKINSON DISEASE; PD

171300 PHEOCHROMOCYTOMA

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

181000 SARCOIDOSIS

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB

227050 TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD

230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

253220 MUCOPOLYSACCHARIDOSIS TYPE VII

275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL

276400 TWINNING, DIZYGOTIC

300130 INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2

300391 AMELOGENIN; AMELX

302350 CATARACT-DENTAL SYNDROME

310400 MYOTUBULAR MYOPATHY 1; MTM1

600274 FRONTOTEMPORAL DEMENTIA

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600429 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 2, I-BRANCHING ENZYME; GCNT2

600431 CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B

600618 ETS VARIANT GENE 6; ETV6

600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12

600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5

601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK

601752 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 1; ENTPD1

602567 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 1; LIMS1

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

602738 KARYOPHERIN BETA-1; KPNB1

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

603200 REGULATORY FACTOR X, ANKYRIN REPEAT-CONTAINING; RFXANK

603745 SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3

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

604194 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4

605721 JUNCTION ADHESION MOLECULE 1; JAM1

607491 PROTEIN O-FUCOSYLTRANSFERASE 1; POFUT1

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

607759 INTEGRIN, ALPHA-2B; ITGA2B

607892 DESMOGLEIN 4; DSG4

607899 WIT1 GENE

June 19, 2003

New Entries:

607899 WIT1 GENE

607900 UNC112-RELATED PROTEIN 1

607901 UNC112-RELATED PROTEIN 2

Changed Entries:

103900 HYPERALDOSTERONISM, FAMILIAL, TYPE I

118860 CHORIONIC GONADOTROPIN, BETA CHAIN; CGB

120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

120470 DELETED IN COLORECTAL CARCINOMA; DCC

133430 ESTROGEN RECEPTOR 1; ESR1

137580 GILLES DE LA TOURETTE SYNDROME; GTS

150200 CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1

163890 SYNUCLEIN, ALPHA; SNCA

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

179835 REPLICATION PROTEIN A1, 70-KD; RPA1

179836 REPLICATION PROTEIN A2, 32-KD; RPA2

179837 REPLICATION PROTEIN A3, 14-KD; RPA3

180200 RETINOBLASTOMA; RB1

181000 SARCOIDOSIS

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

201400 ACTH DEFICIENCY

248200 STARGARDT DISEASE 1; STGD1

300017 FILAMIN A; FLNA

305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

308350 INFANTILE SPASM SYNDROME, X-LINKED

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

601128 H3 HISTONE, FAMILY 3A; H3F3A

601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1

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

602182 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 3; ENPP3

602360 L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM

602430 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 1; ROBO1

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

603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2

603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2

603560 SET-BINDING FACTOR 1; SBF1

603746 SLIT, DROSOPHILA, HOMOLOG OF, 2; SLIT2

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

605872 CD209 ANTIGEN-LIKE; CD209L

605980 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 4; CARD4

606605 3-PRIME @REPAIR EXONUCLEASE 1; TREX1

607102 WILMS TUMOR 1 GENE; WT1

607746 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY C, MEMBER 1;

607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5

607899 WIT1 GENE

June 18, 2003

New Entries:

607896 OVARIAN CANCER-ASSOCIATED GENE 2

607897 MUSASHI, DROSOPHILA, HOMOLOG OF, 2; MSI2

607898 TRIBBLES, DROSOPHILA, HOMOLOG OF, 3

Changed Entries:

109636 BETA-ADRENERGIC RECEPTOR KINASE 2; ADRBK2

122000 CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR

136535 FORMIN; FMN

138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2

139330 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE

142956 HOMEO BOX A9; HOXA9

142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10

164740 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 2; ETS2

165070 FMS-RELATED TYROSINE KINASE 1; FLT1

176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1

185300 STURGE-WEBER SYNDROME

191306 KINASE INSERT DOMAIN RECEPTOR; KDR

192090 CADHERIN 1; CDH1

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

251600 MICROPHTHALMOS, AUTOSOMAL RECESSIVE

300345 MICROPHTHALMIA, COLOBOMATOUS

309700 MICROPHTHALMIA

600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3

600153 PHOSPHATIDYLINOSITOL GLYCAN, CLASS F; PIGF

601009 TIGHT JUNCTION PROTEIN 1; TJP1

601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602105 MutS, E. COLI, HOMOLOG OF, 4; MSH4

603054 CYSTEINE KNOT SUPERFAMILY 1, BMP ANTAGONIST 1; CKTSF1B1

603328 MUSASHI, DROSOPHILA, HOMOLOG OF, 1; MSI1

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

603560 SET-BINDING FACTOR 1; SBF1

604370 OVARIAN CANCER, EARLY-ONSET EPITHELIAL

604395 MutL, E. COLI, HOMOLOG OF, 3; MLH3

605721 JUNCTION ADHESION MOLECULE 1; JAM1

606665 OPSIN 4; OPN4

606695 OPSIN 3; OPN3

607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 11

607897 MUSASHI, DROSOPHILA, HOMOLOG OF, 2; MSI2

Clinical Synopsis for 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA

June 17, 2003

New Entries:

607884 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 1; CKLFSF1

607885 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 2; CKLFSF2

607886 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 3; CKLFSF3

607887 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 4; CKLFSF4

607888 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 5; CKLFSF5

607889 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 6; CKLFSF6

607890 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 7; CKLFSF7

607891 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 8; CKLFSF8

607893 OVARIAN CANCER, EPITHELIAL, SUSCEPTIBILITY TO

607894 POLYCYSTIN 1-LIKE 2

607895 POLYCYSTIN 1-LIKE 3

Changed Entries:

102300 RESTLESS LEGS SYNDROME; RLS

102720 DIPEPTIDYL PEPTIDASE IV; DPP4

103780 ALCOHOLISM

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

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

120260 COLLAGEN, TYPE IX, ALPHA-2; COL9A2

138030 GLUCAGON; GCG

147100 IgG HEAVY CHAIN LOCUS; IGHG1

147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1

150200 CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1

155541 MELANOCORTIN 4 RECEPTOR; MC4R

168461 CYCLIN D1; CCND1

185881 VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2

186590 SYNTAXIN 1A; STX1A

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

200400 ACHALASIA, FAMILIAL ESOPHAGEAL

200440 MOVED TO 231550

231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA

235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME

300178 AC-LIKE TRANSPOSABLE ELEMENT; ALTE

600153 PHOSPHATIDYLINOSITOL GLYCAN, CLASS F; PIGF

600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25

600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2

600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A

601121 PLACENTAL GROWTH FACTOR; PGF

601549 ALACRIMA

604532 POLYCYSTIN 2-LIKE 1; PKD2L1

604669 POLYCYSTIN 2-LIKE 2; PKD2L2

605378 ALADIN; AAAS

606702 PKHD1 GENE; PKHD1

607843 PKHD1-LIKE 1; PKHD1L1

Clinical Synopsis for 200440 MOVED TO 231550

June 16, 2003

New Entries:

607892 DESMOGLEIN 4; DSG4

Changed Entries:

103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

105830 ANGELMAN SYNDROME; AS

116810 CATHEPSIN B; CTSB

123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1

138040 GLUCOCORTICOID RECEPTOR; GCCR

184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

225050 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY

254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300100 ADRENOLEUKODYSTROPHY; ALD

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

300415 MYOTUBULARIN; MTM1

309700 MICROPHTHALMIA

310400 MYOTUBULAR MYOPATHY 1; MTM1

600165 NANOPHTHALMOS 1; NNO1

600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

600494 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 2; POU3F2

600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1

600776 ANOPHTHALMIA-PLUS SYNDROME

601922 ANGIOPOIETIN 2; ANGPT2

602479 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1

602544 PARKIN; PARK2

603353 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER

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

604698 A-KINASE ANCHOR PROTEIN 12; AKAP12

605024 SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER

605738 NANOPHTHALMOS 2; NNO2

605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;

606531 SECRETOGLOBIN, FAMILY 3A, MEMBER 2; SCGB3A2

June 13, 2003

New Entries:

607868 TRIPARTITE MOTIF-CONTAINING PROTEIN 11; TRIM11

607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2

607881 SIGNAL-TRANSDUCING ADAPTOR PROTEIN 2

607882 G PROTEIN-COUPLED RECEPTOR 41

607883 G PROTEIN-COUPLED RECEPTOR 42

Clinical Synopsis for 607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2

Changed Entries:

107777 AQUAPORIN 2; AQP2

131530 EPIDERMAL GROWTH FACTOR; EGF

139250 GROWTH HORMONE 1; GH1

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

300600 ALBINISM, OCULAR, TYPE II; OA2

600040 BCL2-ASSOCIATED X PROTEIN; BAX

601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1

602229 SRY-BOX 10; SOX10

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

605684 TRIPARTITE MOTIF-CONTAINING PROTEIN 34; TRIM34

605700 TRIPARTITE MOTIF-CONTAINING PROTEIN 39; TRIM39

606004 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN

606120 HUMANIN

607461 FLJ90130 GENE

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2

Clinical Synopsis for 601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1

June 12, 2003

New Entries:

300432 EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY

607877 OTOSPIRALIN

607878 NICOTINAMIDE NUCLEOTIDE TRANSHYDROGENASE; NNT

607879 SEC3, S. CEREVISIAE, HOMOLOG OF

607880 SEC15, S. CEREVISIAE, HOMOLOG OF, B

Clinical Synopsis for 603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D

Changed Entries:

102300 RESTLESS LEGS SYNDROME; RLS

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

131340 PRODYNORPHIN; PDYN

133180 ERYTHROLEUKEMIA, FAMILIAL

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

134797 FIBRILLIN 1; FBN1

142970 HOMEO BOX C8; HOXC8

147450 SUPEROXIDE DISMUTASE 1; SOD1

147683 INTERLEUKIN 13; IL13

147780 INTERLEUKIN 4; IL4

147781 INTERLEUKIN 4 RECEPTOR; IL4R

151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL

161800 NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1

162200 NEUROFIBROMATOSIS, TYPE I; NF1

163731 NITRIC OXIDE SYNTHASE 1; NOS1

176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70

230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

275220 TIBIAL HEMIMELIA

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300119 INTERLEUKIN 13 RECEPTOR, ALPHA-1; IL13RA1

300130 INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2

300278 NYCTALOPIN

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600628 LOOSE ANAGEN HAIR SYNDROME

600725 SONIC HEDGEHOG; SHH

600731 G PROTEIN-COUPLED RECEPTOR 8; GPR8

600807 ASTHMA

602365 CATHEPSIN C; CTSC

602448 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5

603186 DEATH-ASSOCIATED PROTEIN 6; DAXX

603577 NUCLEOLAR PROTEIN 4; NOL4

603788 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 1; KCNG1

603790 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1

604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY

606725 CLN6 GENE; CLN6

607059 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4; SLC39A4

607521 HPS5 GENE; HPS5

607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2

607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

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

Clinical Synopsis for 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B

Clinical Synopsis for 169400 PELGER-HUET ANOMALY; PHA

Clinical Synopsis for 250220 METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL

June 11, 2003

New Entries:

300439 RING FINGER PROTEIN 128; RNF128

607873 SCAVENGER RECEPTOR CLASS F, MEMBER 1; SCARF1

607874 ZINC FINGER PROTEIN 444; ZNF444

607875 SKELETAL MUSCLE- AND KIDNEY-ENRICHED INOSITOL PHOSPHATASE

Changed Entries:

103000 ADENYLATE KINASE 1; AK1

107741 APOLIPOPROTEIN E; APOE

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

136533 FORKHEAD BOX O1A; FOXO1A

139320 GNAS COMPLEX LOCUS; GNAS

140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1

153440 LYMPHOTOXIN-ALPHA; LTA

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

159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

191092 TUBEROUS SCLEROSIS 2 GENE; TSC2

218040 COSTELLO SYNDROME

300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

600040 BCL2-ASSOCIATED X PROTEIN; BAX

600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3

600408 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 1; DDR1

600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2

600853 N-DEACETYLASE/N-SULFOTRANSFERASE 1; NDST1

601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A

603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D

603734 INTERFERON REGULATORY FACTOR 3; IRF3

604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1

604834 TANK-BINDING KINASE 1; TBK1

605047 INTERFERON REGULATORY FACTOR 7; IRF7

605048 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE

606596 FUKUTIN-RELATED PROTEIN

607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I

607461 FLJ90130 GENE

607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN

Clinical Synopsis for 232500 GLYCOGEN STORAGE DISEASE IV

June 11, 2003

New Entries:

607839 GLYCOGEN BRANCHING ENZYME; GBE1

607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

607869 UNC5, C. ELEGANS, HOMOLOG OF, A; UNC5A

607870 UNC5, C. ELEGANS, HOMOLOG OF, B; UNC5B

607871 F-BOX ONLY PROTEIN 11; FBXO11

607872 MONOSOMY 1p36 SYNDROME

Changed Entries:

102700 ADENOSINE DEAMINASE; ADA

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

146661 INTERLEUKIN 7 RECEPTOR; IL7R

151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC

156225 LAMININ, ALPHA-2; LAMA2

202500 SEVERE COMBINED IMMUNODEFICIENCY 1; SCID1

230800 GAUCHER DISEASE, TYPE I

232500 GLYCOGEN STORAGE DISEASE IV

236670 WALKER-WARBURG SYNDROME

247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

263570 POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD

307150 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2

308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG

600536 INTEGRIN, ALPHA-7; ITGA7

600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE

601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM

603610 UNC5, C. ELEGANS, HOMOLOG OF, C; UNC5C

604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1

604824 KLOTHO; KL

605066 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,

606596 FUKUTIN-RELATED PROTEIN

606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C

606682 HPS4 GENE; HPS4

606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS

607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I

June 10, 2003

New Entries:

607864 CAUDAL DUPLICATION ANOMALY

607865 SET DOMAIN PROTEIN, BIFURCATED, 2; SETDB2

607866 CHRONIC LYMPHOCYTIC LEUKEMIA DELETION REGION GENE 6

607867 RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 1; RCBTB1

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

113705 BREAST CANCER, TYPE 1; BRCA1

118490 CHOLINE ACETYLTRANSFERASE; CHAT

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

124092 INTERLEUKIN 10; IL10

125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5

139300 GYNECOMASTIA, HEREDITARY

147720 INTERLEUKIN 1-BETA; IL1B

152430 LONGEVITY

156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1

159440 MYELIN PROTEIN ZERO; MPZ

162200 NEUROFIBROMATOSIS, TYPE I; NF1

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

171200 THIOUREA TASTING

172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF

176802 PROSTAGLANDIN E RECEPTOR 1, EP1 SUBTYPE; PTGER1

176806 PROSTAGLANDIN E RECEPTOR 3, EP3 SUBTYPE; PTGER3

177900 PSORIASIS SUSCEPTIBILITY

191100 TUBEROUS SCLEROSIS; TS

191160 TUMOR NECROSIS FACTOR; TNF

209901 BBS1 GENE; BBS1

232600 GLYCOGEN STORAGE DISEASE V

253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD

254210 MYASTHENIA GRAVIS, FAMILIAL INFANTILE; FIMG

277900 WILSON DISEASE

300096 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2; TM4SF2

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

300438 HYDROXYL-CoA DEHYDROGENASE DEFICIENCY

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

304040 GAP JUNCTION PROTEIN, BETA-1; GJB1

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

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

600028 DISTAL-LESS HOMEO BOX 5; DLX5

600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4

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

602234 CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

602917 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1

604582 A-KINASE ANCHOR PROTEIN 2; AKAP2

606352 ALSIN

607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP

607440 FCMD GENE; FCMD

607796 PHD FINGER PROTEIN 11; PHF11

607864 CAUDAL DUPLICATION ANOMALY

June 6, 2003

New Entries:

300438 HYDROXYL-CoA DEHYDROGENASE DEFICIENCY

607860 HEPATOCELLULAR CARCINOMA-ASSOCIATED PROTEIN 2

607861 DAPPER, ANTAGONIST OF BETA-CATENIN, 1; DACT1

607862 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 1; DIRAS1

607863 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 2; DIRAS2

Changed Entries:

103600 ALBUMIN; ALB

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1

109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1

116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM

125660 DESMIN; DES

167770 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A

168600 PARKINSON DISEASE; PD

194470 ZINC, ELEVATED PLASMA

300256 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2

300409 MORTALITY FACTOR 4-LIKE PROTEIN 2; MORF4L2

600332 RIPPLING MUSCLE DISEASE 1; RMD1

601253 CAVEOLIN 3; CAV3

604214 CCM1 GENE; CCM1

605813 NUCLEAR TRANSPORT FACTOR 2

605855 ATPase, CLASS V, TYPE 10A; ATP10A

606072 RIPPLING MUSCLE DISEASE; RMD

607197 DEAFNESS, AUTOSOMAL RECESSIVE

607303 MORTALITY FACTOR 4-LIKE PROTEIN 1; MORF4L1

607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C

607812 CRANIOLENTICULOSUTURAL DYSPLASIA

Clinical Synopsis for 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM

June 5, 2003

New Entries:

607856 FLJ14957

607857 PSORIASIS SUSCEPTIBILITY 8

607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN

607859 ANGIOMA, TUFTED

Changed Entries:

102300 RESTLESS LEGS SYNDROME; RLS

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

139300 GYNECOMASTIA, HEREDITARY

147245 CD79B ANTIGEN; CD79B

147450 SUPEROXIDE DISMUTASE 1; SOD1

177900 PSORIASIS SUSCEPTIBILITY

188070 THROMBOXANE A2 RECEPTOR, PLATELET; TBXA2R

190000 TRANSFERRIN; TF

191130 TUBULIN, BETA; TUBB

265100 PULMONARY ALVEOLAR MICROLITHIASIS

600725 SONIC HEDGEHOG; SHH

600912 TRANSCRIPTION FACTOR 19; TCF19

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

602593 CORNEODESMOSIN; CDSN

604895 T-BOX 21; TBX21

605112 TROPOMODULIN 3; TMOD3

605310 ALPHA-HELIX COILED-COIL ROD HOMOLOG

605380 FIBROBLAST GROWTH FACTOR 23; FGF23

605514 PROTOCADHERIN 15; PCDH15

605980 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 4; CARD4

607472 MITOCHONDRIAL ESCAPE 1-LIKE 1; YME1L1

607841 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, DUE TO MUTATION

607850 HAND OSTEOARTHRITIS; HOA

June 5, 2003

New Entries:

607849 RETINOL DEHYDROGENASE 11; RDH11

607850 HAND OSTEOARTHRITIS; HOA

607851 NAKED CUTICLE, DROSOPHILA, HOMOLOG OF, 1; NKD1

607852 NAKED CUTICLE, DROSOPHILA, HOMOLOG OF, 2; NKD2

Changed Entries:

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

147780 INTERLEUKIN 4; IL4

165720 OSTEOARTHRITIS

168890 PARVALBUMIN; PVALB

176795 PRO-MELANIN-CONCENTRATING HORMONE; PMCH

191170 TUMOR PROTEIN p53; TP53

193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME

231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA

300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

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

308350 INFANTILE SPASM SYNDROME, X-LINKED

600017 SYNDECAN 4; SDC4

602109 MATRILIN 3; MATN3

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

605845 DERMATITIS, ATOPIC, 6; ATOD6

607408 G72 GENE

607415 G30 GENE

June 3, 2003

New Entries:

607834 NEUROTICISM

607843 POLYCYSTIC KIDNEY AND HEPATIC DISEASE-LIKE 1 GENE; PKHD1L1

607844 INTEGRAL INNER NUCLEAR MEMBRANE PROTEIN

607845 EXPORTIN 5; XPO5

607846 METHYLTRANSFERASE-LIKE 2; METTL2

607847 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS

607848 RAB-INTERACTING LYSOSOMAL PROTEIN

Changed Entries:

114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

136533 FORKHEAD BOX O1A; FOXO1A

140300 HASHIMOTO THYROIDITIS

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

146520 HYPOTRICHOSIS SIMPLEX OF SCALP

147050 IgE RESPONSIVENESS, ATOPIC; IGER

163950 NOONAN SYNDROME 1; NS1

167870 PANIC DISORDER SYNDROME

176802 PROSTAGLANDIN E RECEPTOR 1, EP1 SUBTYPE; PTGER1

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

192500 LONG QT SYNDROME 1; LQT1

202700 NEUTROPENIA, SEVERE CONGENITAL; SCN

212905 MOVED TO 606854

227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D

256700 NEUROBLASTOMA

266200 PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE

275000 GRAVES DISEASE

600185 BREAST CANCER 2, EARLY-ONSET; BRCA2

600726 INDIAN HEDGEHOG; IHH

600807 ASTHMA

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

600927 CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D

601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12

601567 LECTIN, MANNOSE-BINDING, 1; LMAN1

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

602234 CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9

602593 CORNEODESMOSIN; CDSN

602784 CORTISTATIN; CORT

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

603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2

603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3

604089 DNAX-ACTIVATION PROTEIN 10

604176 SUPPRESSOR OF CYTOKINE SIGNALING 3

604264 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3

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

604628 INTERLEUKIN 17C; IL17C

604688 A-KINASE ANCHOR PROTEIN 5; AKAP5

604925 RAB ACCEPTOR 1; RABAC1

605402 B7 HOMOLOG 1

605658 INTERLEUKIN 17E; IL17E

606496 INTERLEUKIN 17F; IL17F

606557 B-CELL CLL/LYMPHOMA 11A; BCL11A

606558 B-CELL CLL/LYMPHOMA 11B; BCL11B

606702 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 GENE; PKHD1

606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML

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

607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2

607796 PHD FINGER PROTEIN 11; PHF11

607813 PLASTICITY-RELATED GENE 1

607843 POLYCYSTIC KIDNEY AND HEPATIC DISEASE-LIKE 1 GENE; PKHD1L1

Clinical Synopsis for 212905 MOVED TO 606854

June 3, 2003

New Entries:

607812 CRANIOLENTICULOSUTURAL DYSPLASIA

607841 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, DUE TO MUTATION

607842 AURAL ATRESIA, CONGENITAL

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

162200 NEUROFIBROMATOSIS, TYPE I; NF1

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB

176640 PRION PROTEIN; PRNP

180380 RHODOPSIN; RHO

182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600595 TG737, MOUSE, HOMOLOG OF

601478 MYOSIN IA; MYO1A

604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2

606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A

606702 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 GENE; PKHD1

607600 EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC