PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for July, 2003

July 31, 2003

New Entries:

607998 CLN2 GENE; CLN2

608002 NEPHROCYSTIN 3; NPHP3

608004 INTERLEUKIN 1-INDUCED NUCLEAR ANKYRIN REPEAT PROTEIN

608005 SIL1, S. CEREVISIAE, HOMOLOG OF

608006 LEIOMODIN 2; LMOD2

Changed Entries:

107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1

110600 ADP-RIBOSYLTRANSFERASE 4; ART4

116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA

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

118910 CHROMOGRANIN A; CHGA

154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE

163950 NOONAN SYNDROME 1; NS1

164761 RET PROTOONCOGENE; RET

165020 V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1; ROS1

165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3

174763 POLYMERASE, DNA, GAMMA; POLG

176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO

191045 TROPONIN T2, CARDIAC; TNNT2

191175 TUMOR REJECTION ANTIGEN 1; TRA1

204300 CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4

204500 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2

204600 MOVED TO 204500

243305 INVERSIN; INVS

256730 CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1

263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

268100 ENHANCED S-CONE SYNDROME; ESCS

277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE, 1

300032 ATR-X GENE; ATRX

300221 HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL

301500 FABRY DISEASE

306900 HEMOPHILIA B; HEMB

600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

601441 DIACYLGLYCEROL KINASE, ZETA, 104-KD: DGKZ

601464 LYMPHOID NUCLEAR PROTEIN RELATED TO AF4; LAF4

601780 CEROID LIPOFUSCINOSIS, NEURONAL, LATE INFANTILE, VARIANT

602088 NEPHRONOPHTHISIS 2; NPHP2

602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1

602634 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY B, MEMBER 9; DNAJB9

602768 DELTA-LIKE 3; DLL3

604387 NEPHRONOPHTHISIS 3; NPHP3

604712 RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B

605537 ACTIVATING TRANSCRIPTION FACTOR 6; ATF6

607596 PONTOCEREBELLAR HYPOPLASIA, TYPE I

607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC

608002 NEPHROCYSTIN 3; NPHP3

July 30, 2003

New Entries:

607999 ASH1, DROSOPHILA, HOMOLOG OF

608000 N-ACETYLTRANSFERASE 1, S. CEREVISIAE, HOMOLOG OF

608001 MELANOMA INHIBITORY ACTIVITY PROTEIN 2

608003 HOMEODOMAIN-INTERACTING PROTEIN KINASE 1

Changed Entries:

109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2

126110 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ARNT

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

141900 HEMOGLOBIN--BETA LOCUS; HBB

143100 HUNTINGTON DISEASE; HD

153670 BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT

154790 PROTEASE INHIBITOR 5; PI5

165640 ORNITHINE DECARBOXYLASE 1; ODC1

180750 ROBINOW-SORAUF SYNDROME

204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3

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

313700 ANDROGEN RECEPTOR; AR

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

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600621 STATHMIN-LIKE 2; STMN2

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

600927 CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D

601340 MELANOMA INHIBITORY ACTIVITY PROTEIN; MIA

601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST

601665 OBESITY

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

601693 UNCOUPLING PROTEIN 2; UCP2

601945 SPLICING FACTOR, ARGININE/SERINE-RICH, 8; SFRS8

602711 FE65-LIKE 2

602952 WOLF-HIRSCHHORN SYNDROME CANDIDATE 1; WHSC1

603745 SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3

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

605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9

605974 SLU7, S. CEREVISIAE, HOMOLOG OF

606104 TUBULOPATHY, ENCEPHALOPATHY, AND LIVER FAILURE DUE TO COMPLEX III

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

607765 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4; PFIC4

607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML

July 29, 2003

New Entries:

607989 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN 3; SPOCK3

607992 SPLICING FACTOR 4; SF4

607993 SPLICING FACTOR, ARGININE/SERINE-RICH, 14; SFRS14

607994 STRAND EXCHANGE PROTEIN 1

607995 UNC93, C. ELEGANS, HOMOLOG OF, A; UNC93A

607996 PREPRONEUROPEPTIDE B

607997 PREPRONEUROPEPTIDE W

Changed Entries:

126450 DOPAMINE RECEPTOR D2; DRD2

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

138040 GLUCOCORTICOID RECEPTOR; GCCR

174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1

182120 SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC

182305 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 1; SLC8A1

235200 HEMOCHROMATOSIS; HFE

236750 HYDROPS FETALIS, IDIOPATHIC

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600730 G PROTEIN-COUPLED RECEPTOR 7; GPR7

600731 G PROTEIN-COUPLED RECEPTOR 8; GPR8

601652 MYOCILIN; MYOC

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

601901 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 2; SLC8A2

602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11

603054 CYSTEINE KNOT SUPERFAMILY 1, BMP ANTAGONIST 1; CKTSF1B1

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

603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2

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

604698 A-KINASE ANCHOR PROTEIN 12; AKAP12

604860 MUCOSA-ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1; MALT1

604895 T-BOX 21; TBX21

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

605980 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 4; CARD4

606272 CYSTINOSIN; CTNS

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

606463 GLUCOSIDASE, ACID BETA; GBA

606478 PROTECTION OF TELOMERES 1

606665 OPSIN 4; OPN4

606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS

607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

607281 LSM1 PROTEIN

607282 LSM2 PROTEIN

607283 LSM3 PROTEIN

607284 LSM4 PROTEIN

607285 LSM5 PROTEIN

607286 LSM6 PROTEIN

607287 LSM7 PROTEIN

607847 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS

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

607925 B- AND T-LYMPHOCYTE ATTENUATOR

607941 ATRIAL SEPTAL DEFECT 2; ASD2

July 28, 2003

New Entries:

607986 S100 CALCIUM-BINDING PROTEIN A14; S100A14

607987 ENDOPLASMIC RETICULUM RESIDENT PROTEIN ERDJ5

607988 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN 2; SPOCK2

607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1

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

Changed Entries:

103320 AGRIN; AGRN

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

136535 FORMIN; FMN

139250 GROWTH HORMONE 1; GH1

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

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10

146660 INTERLEUKIN 7; IL7

147100 IgG HEAVY CHAIN LOCUS; IGHG1

147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1

153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR

155541 MELANOCORTIN 4 RECEPTOR; MC4R

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

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

165070 FMS-RELATED TYROSINE KINASE 1; FLT1

168461 CYCLIN D1; CCND1

176640 PRION PROTEIN; PRNP

176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1

180380 RHODOPSIN; RHO

188070 THROMBOXANE A2 RECEPTOR, PLATELET; TBXA2R

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

191306 KINASE INSERT DOMAIN RECEPTOR; KDR

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

202700 NEUTROPENIA, SEVERE CONGENITAL; SCN

247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

313700 ANDROGEN RECEPTOR; AR

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

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

600076 TENSIN; TNS

600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A

600576 GATA-BINDING PROTEIN 4; GATA4

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1

601121 PLACENTAL GROWTH FACTOR; PGF

601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK

601462 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS

601620 T-BOX 5; TBX5

601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5

602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB

602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA

602264 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN; SPOCK

602365 CATHEPSIN C; CTSC

602983 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE,

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

603745 SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3

607600 EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC

Clinical Synopsis for 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR

July 25, 2003

New Entries:

607982 SCY1-LIKE 1; SCYL1

607983 NTKL-BINDING PROTEIN 1

607984 SPROUTY, DROSOPHILA, HOMOLOG OF, 4; SPRY4

607985 N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE;

Changed Entries:

125647 DESMOPLAKIN; DSP

126452 DOPAMINE RECEPTOR D4; DRD4

133430 ESTROGEN RECEPTOR 1; ESR1

134600 FANCONI RENOTUBULAR SYNDROME

135600 FIBRONECTIN 1; FN1

147562 INTERFERON, ALPHA-2; IFNA2

147640 INTERFERON, BETA-1; IFNB1

147660 INTERFERON, ALPHA-1; IFNA1

148043 KERATIN 3; KRT3

173470 INTEGRIN, BETA-3; ITGB3

179505 RAS HOMOLOG GENE FAMILY, MEMBER G; ARHG

182139 5-@HYDROXYTRYPTAMINE RECEPTOR 3A; HTR3A

186745 TALIN 1; TLN1

191170 TUMOR PROTEIN p53; TP53

193210 INTEGRIN, ALPHA-V; ITGAV

305450 FG SYNDROME; FGS1

309850 MONOAMINE OXIDASE A; MAOA

600823 PROTEASE, SERINE, 8; PRSS8

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

601277 ICHTHYOSIS, LAMELLAR, 2; LI2

601403 DEDICATOR OF CYTOKINESIS 1; DOCK1

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

601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA

602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1

604654 5-@HYDROXYTRYPTAMINE RECEPTOR 3B; HTR3B

605875 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 2; WASF2

606127 MYOCARDIN

606421 ENGULFMENT AND CELL MOTILITY GENE 2; ELMO2

606545 ICHTHYOSIS, LAMELLAR, 5

606807 SEF, ZEBRAFISH, HOMOLOG OF

July 24, 2003

New Entries:

607973 NEUROPILIN- AND TOLLOID-LIKE 1; NETO1

607974 NEUROPILIN- AND TOLLOID-LIKE 2; NETO2

607978 SAM DOMAIN, SH3 DOMAIN, AND NUCLEAR LOCALIZATION SIGNALS 1; SAMSN1

607979 SERINE HYDROLASE-LIKE; SERHL

607980 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 7, YEAST, HOMOLOG OF

607981 NEDD8 ULTIMATE BUSTER 1

Changed Entries:

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D

124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2

134920 FIBROBLAST GROWTH FACTOR 2; FGF2

138720 GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE; GP1BB

146680 INSULIN-DEGRADING ENZYME; IDE

147450 SUPEROXIDE DISMUTASE 1; SOD1

147590 MOVED TO 109120

158105 SMALL INDUCIBLE CYTOKINE A2; SCYA2

164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1

164761 RET PROTOONCOGENE; RET

165640 ORNITHINE DECARBOXYLASE 1; ODC1

173511 GLYCOPROTEIN V, PLATELET; GP5

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176730 INSULIN; INS

180260 RETINOL-BINDING PROTEIN 1; RBP1

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

219750 CYSTINOSIS, ADULT NONNEPHROPATHIC

231200 GIANT PLATELET SYNDROME

300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4

300130 INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2

480000 SEX-DETERMINING REGION Y; SRY

590035 TRANSFER RNA, MITOCHONDRIAL, GLYCINE; MTTG

600632 OPIOID-BINDING PROTEIN/CELL ADHESION MOLECULE-LIKE; OPCML

600692 TROPONIN T3, FAST SKELETAL; TNNT3

601007 LEPTIN RECEPTOR; LEPR

601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2

604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT

604370 OVARIAN CANCER, EPITHELIAL

606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA

607047 MJD GENE; MJD

607202 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO

607690 SAR1A, S. CEREVISIAE, HOMOLOG 2; SARA2

607971 TRANSPORTER V7-3, RAT, HOMOLOG OF

607973 NEUROPILIN- AND TOLLOID-LIKE 1; NETO1

607974 NEUROPILIN- AND TOLLOID-LIKE 2; NETO2

Clinical Synopsis for 147590 MOVED TO 109120

July 23, 2003

New Entries:

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;

607969 CDC-LIKE KINASE 4; CLK4

607970 G PROTEIN-COUPLED RECEPTOR 135

607971 TRANSPORTER V7-3, RAT, HOMOLOG OF;;

607972 NEUROTRANSMITTER TRANSPORTER 5

607975 PREGNANCY-INDUCED GROWTH INHIBITOR OKL38

607976 CYTOCHROME c OXIDASE, SUBUNIT IV, ISOFORM 2; COX4I2

607977 HEADCASE, DROSOPHILA, HOMOLOG OF; HECA

Changed Entries:

102520 ACRORENAL SYNDROME

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

134920 FIBROBLAST GROWTH FACTOR 2; FGF2

152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE

154790 PROTEASE INHIBITOR 5; PI5

160900 DYSTROPHIA MYOTONICA 1

181500 SCHIZOPHRENIA; SCZD

194050 WILLIAMS-BEUREN SYNDROME; WBS

212750 CELIAC DISEASE; CD

235730 HIRSCHSPRUNG DISEASE SYNDROME

271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL

300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5

308940 LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY

309520 MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS

600170 AQUAPORIN 3; AQP3

602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE,

607356 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 4; EIF2C4

607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC

607686 FIP1-LIKE 1; FIP1L1

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;

July 22, 2003

New Entries:

607963 METHYL-CpG BINDING DOMAIN PROTEIN 3-LIKE 1; MBD3L1

607964 METHYL-CpG BINDING DOMAIN PROTEIN 3-LIKE 2; MBD3L2

607968 PARATHYROID HORMONE-RESPONSIVE B1 GENE

Changed Entries:

109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE

190196 TRANSGLUTAMINASE 2; TGM2

200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA

301500 FABRY DISEASE

600859 JTV1 GENE

601583 WILMS TUMOR SUPPRESSOR LOCUS

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

601835 CHEMOKINE, CC MOTIF, RECEPTOR 6; CCR6

605163 G PROTEIN-COUPLED RECEPTOR STRL33

605209 CHECKPOINT PROTEIN WITH FHA AND RING FINGER DOMAINS; CHFR

605386 LET7, C. ELEGANS, HOMOLOG OF, A1

605715 B7 HOMOLOG 3

605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9

July 21, 2003

New Entries:

607960 DEAD/H BOX 32; DDX32

607961 SEMAPHORIN 7A; SEMA7A

607962 MICRO RNA 23

Changed Entries:

107400 PROTEASE INHIBITOR 1; PI

107720 APOLIPOPROTEIN C-III; APOC3

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

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

162060 GROWTH ASSOCIATED PROTEIN 43; GAP43

181500 SCHIZOPHRENIA; SCZD

248370 MANDIBULOACRAL DYSPLASIA; MAD

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

256000 LEIGH SYNDROME; LS

301500 FABRY DISEASE

606368 APOLIPOPROTEIN A-V; APOA5

606673 BETA-UREIDOPROPIONASE; UPB1

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607857 PSORIASIS SUSCEPTIBILITY 9

July 18, 2003

New Entries:

300444 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 14;

607955 STERILE ALPHA MOTIFS- AND SH3 DOMAIN-CONTAINING PROTEIN 1;

607956 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 8, S. CEREVISIAE,

607957 CAMK1-LIKE PROTEIN KINASE

607958 SYNTAXIN-BINDING PROTEIN 6; STXBP6

607959 SOLUTE CARRIER FAMILY 7, MEMBER 10; SLC7A10

Changed Entries:

139250 GROWTH HORMONE 1; GH1

162200 NEUROFIBROMATOSIS, TYPE I; NF1

191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB

253000 MUCOPOLYSACCHARIDOSIS TYPE IVA

600725 SONIC HEDGEHOG; SHH

602984 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 6, S. CEREVISIAE,

July 17, 2003

New Entries:

300443 SOLUTE CARRIER FAMILY 7, MEMBER 3; SLC7A3

607952 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER

607953 NEURONAL PROTEIN, 25-KD, RAT, HOMOLOG OF

607954 RAN GUANINE NUCLEOTIDE RELEASE FACTOR

Changed Entries:

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

122470 CORNELIA DE LANGE SYNDROME 1; CDL1

130020 EHLERS-DANLOS SYNDROME, TYPE III

130080 EHLERS-DANLOS SYNDROME, TYPE VIII

136850 FUMARATE HYDRATASE; FH

137580 GILLES DE LA TOURETTE SYNDROME; GTS

139250 GROWTH HORMONE 1; GH1

143100 HUNTINGTON DISEASE; HD

151410 BREAKPOINT CLUSTER REGION; BCR

176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1

179050 PYRUVATE KINASE 3; PK3

188555 MOVED TO 179050

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600532 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2; NDUFV2

600692 TROPONIN T3, FAST SKELETAL; TNNT3

600985 TENASCIN-XB; TNXB

601680 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B; AMCD2B

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

602985 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

604634 TRANSGELIN 2; TAGLN2

July 16, 2003

New Entries:

607950 TESTIS-SPECIFIC PROTEASE 50

607951 TRANSLOKIN

Clinical Synopsis for 604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE

Changed Entries:

131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP

143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,

173650 KINDLER SYNDROME

182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A

253250 MULIBREY NANISM

300377 DYSTROPHIN; DMD

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600480 TRANSCRIPTION FACTOR 12; TCF12

601029 MESODERM-SPECIFIC TRANSCRIPT, MOUSE, HOMOLOG OF; MEST

605073 TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37

606066 LIM HOMEO BOX GENE 9; LHX9

606201 WOLFRAM SYNDROME GENE 1; WFS1

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

607900 KINDLIN 1

607901 UNC112-RELATED PROTEIN 2

Clinical Synopsis for 162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE

Clinical Synopsis for 204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3

Clinical Synopsis for 204300 CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4

Clinical Synopsis for 204500 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2

Clinical Synopsis for 256730 CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1

Clinical Synopsis for 600143 CEROID LIPOFUSCINOSIS, NEURONAL 8; CLN8

Clinical Synopsis for 600680 CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC

Clinical Synopsis for 601780 CEROID LIPOFUSCINOSIS, NEURONAL, LATE-INFANTILE, VARIANT

July 15, 2003

New Entries:

607947 POTASSIUM CHANNEL REGULATOR; KCNRG

Changed Entries:

100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1

100710 CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1; CHRNB1

100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

100730 CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE; CHRNG

102720 DIPEPTIDYL PEPTIDASE IV; DPP4

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

133170 ERYTHROPOIETIN; EPO

136140 FLOATING-HARBOR SYNDROME

139393 GUILLAIN-BARRE SYNDROME, FAMILIAL

147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC

150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1

162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ

176270 PRADER-WILLI SYNDROME; PWS

176920 PROTEUS SYNDROME

191845 UROMODULIN; UMOD

210250 SITOSTEROLEMIA

213700 CEREBROTENDINOUS XANTHOMATOSIS

243800 JOHANSON-BLIZZARD SYNDROME; JBS

252150 MOLYBDENUM COFACTOR DEFICIENCY

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR

600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT

600953 INTERLEUKIN 18; IL18

601349 MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM;

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601620 T-BOX 5; TBX5

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4

603680 SPINOCEREBELLAR ATAXIA 8; SCA8

603707 MOLYBDENUM COFACTOR SYNTHESIS 1; MOCS1

603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2

603930 GEPHYRIN; GPH

603961 SEMAPHORIN 3A; SEMA3A

604113 INTERLEUKIN 18-BINDING PROTEIN; IL18BP

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

605930 SORTING NEXIN 3; SNX3

607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC

607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1

607923 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 91-KD; SNAP91

Clinical Synopsis for 176920 PROTEUS SYNDROME

July 15, 2003

New Entries:

607945 ADIPONECTIN RECEPTOR 1

607946 ADIPONECTIN RECEPTOR 2

Changed Entries:

116900 CDC28 PROTEIN KINASE 1B; CKS1B

120470 DELETED IN COLORECTAL CARCINOMA; DCC

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

138040 GLUCOCORTICOID RECEPTOR; GCCR

142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1

147450 SUPEROXIDE DISMUTASE 1; SOD1

174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1

238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME

263570 POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD

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

601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602544 PARKIN; PARK2

603134 CULLIN 1; CUL1

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

603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20

603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2

603861 SOLUTE CARRIER FAMILY 25, MEMBER 15; SLC25A15

603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS

606168 DEAD/H BOX 20; DDX20

606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2

606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7

606969 GEM-ASSOCIATED PROTEIN 4; GEMIN4

607839 GLYCOGEN BRANCHING ENZYME; GBE1

July 11, 2003

New Entries:

607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL

Changed Entries:

102200 ACROMEGALY

131195 ENDOGLIN; ENG

139320 GNAS COMPLEX LOCUS; GNAS

163890 SYNUCLEIN, ALPHA; SNCA

241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

276900 USHER SYNDROME, TYPE IA; USH1A

300199 RNA-BINDING MOTIF PROTEIN, X CHROMOSOME; RBMX

300258 ROIFMAN SYNDROME

300600 ALBINISM, OCULAR, TYPE II; OA2

301500 FABRY DISEASE

400006 RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1, MEMBER A1; RBMY1A1

600609 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, ALPHA SUBUNIT; GABPA

600610 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT; GABPB

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

602617 FORKHEAD BOX E1; FOXE1

602719 SPLICING FACTOR, ARGININE/SERINE-RICH, 10; SFRS10

604408 MOVED TO 600610

604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20

605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;

606938 UROPORPHYRINOGEN III SYNTHASE; UROS

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

Clinical Synopsis for 220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC

Clinical Synopsis for 256000 LEIGH SYNDROME; LS

Clinical Synopsis for 308930 LEIGH SYNDROME, X-LINKED

July 10, 2003

New Entries:

607942 PHOSPHOINOSITIDE 3-KINASE ADAPTOR PROTEIN 1

607943 Ca(2+)-PROMOTED RAS INACTIVATOR

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

108800 ATRIAL SEPTAL DEFECT 1; ASD1

109636 BETA-ADRENERGIC RECEPTOR KINASE 2; ADRBK2

114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC

139900 HAND SKILL, RELATIVE; HSR

140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1

147620 INTERLEUKIN 6; IL6

147880 INTERLEUKIN 6 RECEPTOR; IL6R

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

172420 PHOSPHOLIPASE C, GAMMA-1; PLCG1

173610 SELECTIN P; SELP

176830 PROOPIOMELANOCORTIN; POMC

180435 RIBONUCLEASE L; RNASEL

180902 RYANODINE RECEPTOR 2; RYR2

180903 RYANODINE RECEPTOR 3; RYR3

185620 SURFEIT 1; SURF1

191020 TROPHOBLAST-LYMPHOCYTE CROSSREACTIVE ANTIGEN

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC

221770 PRESENILE DEMENTIA WITH BONE CYSTS

256000 LEIGH SYNDROME; LS

300377 DYSTROPHIN; DMD

306700 HEMOPHILIA A

308930 LEIGH SYNDROME, X-LINKED

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

516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST

600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST

600807 ASTHMA

601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP

601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4

602354 LINKER FOR ACTIVATION OF T CELLS; LAT

602709 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 1; APBB1

603273 TUMOR PROTEIN p73-LIKE; TP73L

603324 GAP JUNCTION PROTEIN, BETA-3; GJB3

603644 SCO1, S. CEREVISIAE, HOMOLOG OF; SCO1

603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L

603962 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1

604020 BASSOON, MOUSE, HOMOLOG OF; BSN

604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE

604610 RECQ PROTEIN-LIKE 3; RECQL3

604906 SCHIZOPHRENIA 9; SCZD9

605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605696 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 2; KCNG2

606266 BCL2-MODIFYING FACTOR

606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3

606829 FRDA GENE; FRDA

606830 ATP/GTP-BINDING PROTEIN 1; AGTPBP1

607116 ALZHEIMER DISEASE 8

607251 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF;

607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1

607537 MASTERMIND-LIKE 2; MAML2

607747 MIG2- AND FILAMIN-INTERACTING PROTEIN

607941 ATRIAL SEPTAL DEFECT 2; ASD2

607943 Ca(2+)-PROMOTED RAS INACTIVATOR

Clinical Synopsis for 530000 KEARNS-SAYRE SYNDROME; KSS

July 9, 2003

New Entries:

Clinical Synopsis for 606072 RIPPLING MUSCLE DISEASE; RMD

Changed Entries:

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

102775 ADENOSINE A1 RECEPTOR; ADORA1

102777 ADENOSINE A2 RECEPTOR-LIKE; ADORA2L1

104300 ALZHEIMER DISEASE; AD

110700 BLOOD GROUP--DUFFY SYSTEM; FY

112203 CD80 ANTIGEN; CD80

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

135600 FIBRONECTIN 1; FN1

147559 INTEGRIN, BETA-7; ITGB7

147620 INTERLEUKIN 6; IL6

147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1

151445 LEUKOCYTE ANTIGEN CD23; CD23

155541 MELANOCORTIN 4 RECEPTOR; MC4R

160777 MYOSIN VA; MYO5A

162200 NEUROFIBROMATOSIS, TYPE I; NF1

162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE

164500 SPINOCEREBELLAR ATAXIA 7; SCA7

173320 RIBONUCLEASE/ANGIOGENIN INHIBITOR; RNH

174763 POLYMERASE, DNA, GAMMA; POLG

182133 5-@HYDROXYTRYPTAMINE RECEPTOR 1D; HTR1D

182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA-1 SUBUNIT; SCN2A1

190685 DOWN SYNDROME

191010 TROPOMYOSIN 1; TPM1

191040 TROPONIN C, SLOW; TNNC1

191044 TROPONIN I, CARDIAC; TNNI3

191045 TROPONIN T2, CARDIAC; TNNT2

192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1

192975 INTEGRIN, ALPHA-4; ITGA4

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

256730 CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1

270230 SKELETAL DYSPLASIA, SAN DIEGO TYPE

277900 WILSON DISEASE

300020 MOVED TO 102610

300304 CULLIN 4B; CUL4B

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

312750 RETT SYNDROME; RTT

313700 ANDROGEN RECEPTOR; AR

516003 COMPLEX I, SUBUNIT ND4; MTND4

590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK

600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST

600621 STATHMIN-LIKE 2; STMN2

600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

601620 T-BOX 5; TBX5

602565 CHEMOKINE, CC MOTIF, LIGAND 25; CCL25

603137 CULLIN 4A; CUL4A

604738 CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9

605353 GHRELIN

605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1

605525 DOUBLE PARKED, DROSOPHILA, HOMOLOG OF

605717 B7 HOMOLOG 2

606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP

607462 DRPLA GENE; DRPLA

607574 ARYLSULFATASE A; ARSA

Clinical Synopsis for 256700 NEUROBLASTOMA

Clinical Synopsis for 300020 MOVED TO 102610

Clinical Synopsis for 530000 KEARNS-SAYRE SYNDROME; KSS

Clinical Synopsis for 600332 RIPPLING MUSCLE DISEASE 1; RMD1

July 8, 2003

New Entries:

607941 ATRIAL SEPTAL DEFECT

Changed Entries:

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

111150 BLOOD GROUP--LUTHERAN INHIBITOR

111400 BLOOD GROUP, P SYSTEM

111410 MOVED TO 111400

124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D

128990 EARLY GROWTH RESPONSE 1; EGR1

132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1

134921 FIBROBLAST GROWTH FACTOR 6; FGF6

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

135150 BIRT-HOGG-DUBE SYNDROME; BHD

151210 THANATOPHORIC DYSPLASIA VARIANTS

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

164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2

164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2

165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN

173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2

242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE

248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA

250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

270230 SKELETAL DYSPLASIA, SAN DIEGO TYPE

300346 HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1

300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

516040 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT II; MTCO2

516050 CYTOCHROME c OXIDASE III; MTCO3

590035 TRANSFER RNA, MITOCHONDRIAL, GLYCINE; MTTG

590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI

600247 ELK3, ETS-DOMAIN PROTEIN; ELK3

600576 GATA-BINDING PROTEIN 4; GATA4

600892 SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 2; SIM2

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

601403 DEDICATOR OF CYTOKINESIS 1; DOCK1

602403 BLEOMYCIN HYDROLASE; BLMH

602506 CYCLIN T1; CCNT1

602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9

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

603251 CYCLIN-DEPENDENT KINASE 9; CDK9

603827 BCL2-LIKE 11; BCL2L11

604616 T-BOX, BRAIN, 1; TBR1

604824 KLOTHO; KL

606170 GENITOPATELLAR SYNDROME

606573 FYN-RELATED KINASE; FRK

606829 FRDA GENE; FRDA

607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5

607273 FOLLICULIN

607845 EXPORTIN 5; XPO5

607922 ALPHA-1,4-GALACTOSYLTRANSFERASE; A4GALT

July 7, 2003

Changed Entries:

103300 AGLOSSIA-ADACTYLIA

105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED

116960 MORTALITY FACTOR 4; MORF4

120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3

120350 COLLAGEN, TYPE XIII, ALPHA-1; COL13A1

131340 PRODYNORPHIN; PDYN

132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1

141200 HEMATURIA, BENIGN FAMILIAL; BFH

150330 LAMIN A/C; LMNA

151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1

155541 MELANOCORTIN 4 RECEPTOR; MC4R

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

214500 CHEDIAK-HIGASHI SYNDROME; CHS

231670 GLUTARICACIDEMIA I

252010 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME

306900 HEMOPHILIA B; HEMB

600731 G PROTEIN-COUPLED RECEPTOR 8; GPR8

601243 TOPOISOMERASE, DNA, III, ALPHA; TOP3A

601410 DIABETES MELLITUS, TRANSIENT NEONATAL

601556 ATAXIN 1; ATX1

601665 OBESITY

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

604610 RECQ PROTEIN-LIKE 3; RECQL3

604965 SERINE/THREONINE PROTEIN KINASE 4; STK4

606202 MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP

606594 SET DOMAIN-CONTAINING PROTEIN 7

607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5

July 3, 2003

New Entries:

607939 SULFATASE-MODIFYING FACTOR 1

607940 SULFATASE-MODIFYING FACTOR 2

Changed Entries:

102573 ACTININ, ALPHA-2; ACTN2

120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

141200 HEMATURIA, BENIGN FAMILIAL; BFH

147780 INTERLEUKIN 4; IL4

147781 INTERLEUKIN 4 RECEPTOR; IL4R

156560 METHIONYL-tRNA SYNTHETASE; MARS

212750 CELIAC DISEASE; CD

233450 GOODPASTURE SYNDROME

262300 ACHROMATOPSIA 3; ACHM3

272200 MULTIPLE SULFATASE DEFICIENCY; MSD

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300377 DYSTROPHIN; DMD

600063 AUTOANTIGEN Ro/SSA, 60-KD; RO60

600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

600859 JTV1 GENE

601556 ATAXIN 1; ATX1

602141 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8; NDUFS8

605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3

607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC

July 2, 2003

New Entries:

607937 HOMEO BOX TRANSCRIPTION FACTOR NANOG

607938 NEUROTRIMIN

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

131240 ENDOTHELIN 1; EDN1

131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB

180200 RETINOBLASTOMA; RB1

180300 RHEUMATOID ARTHRITIS; RA

516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1

590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1

600274 FRONTOTEMPORAL DEMENTIA

600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

600632 OPIOID-BINDING PROTEIN/CELL ADHESION MOLECULE-LIKE; OPCML

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

601850 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME 1, AUTOSOMAL DOMINANT

602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

604176 SUPPRESSOR OF CYTOKINE SIGNALING 3

604370 OVARIAN CANCER, EPITHELIAL

607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31

607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;

607740 UBIQUITIN-SPECIFIC PROTEASE 32; USP32

607928 WHIRLIN; WHRN

July 1, 2003

New Entries:

607934 PEPTIDYLARGININE DEIMINASE, TYPE I; PADI1

607935 PEPTIDYLARGININE DEIMINASE, TYPE II; PADI2

Changed Entries:

180200 RETINOBLASTOMA; RB1

602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7

603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR

605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4

606755 PEPTIDYLARGININE DEIMINASE III; PADI3