PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for September, 2003

September 30, 2003

New Entries:

608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV

608115 OVARIAN HYPERSTIMULATION SYNDROME

608118 ZINC IN BREAST MILK, REDUCED

608134 PARALEMMIN; PALM

608135 ASPORIN; ASPN

608136 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10; ARHGEF10

608137 NASAL EMBRYONIC LUTEINIZING HORMONE-RELEASING HORMONE FACTOR

608138 PROGRAMMED CELL DEATH 7; PDCD7

608139 NUCLEAR PROTEIN p30

608140 MITOTIC PHOSPHOPROTEIN 44

608141 NUCLEOPORIN, 43-KD; NUP43

Changed Entries:

107941 ARRESTIN, BETA, 2; ARRB2

109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1

112267 BONE MORPHOGENETIC PROTEIN 7; BMP7

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

123970 CYTOCHROME C

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

126380 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1

133239 ESOPHAGEAL CANCER

136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR

137215 GASTRIC CANCER

137580 GILLES DE LA TOURETTE SYNDROME; GTS

137800 GLIOMA OF BRAIN, FAMILIAL

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

146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA

146450 HYPOSPADIAS

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA

176760 PROLACTIN; PRL

176761 PROLACTIN RECEPTOR; PRLR

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

188470 THYROID CARCINOMA, FOLLICULAR; FTC

188550 THYROID CARCINOMA, PAPILLARY

191040 TROPONIN C, SLOW; TNNC1

191044 TROPONIN I, CARDIAC; TNNI3

191045 TROPONIN T2, CARDIAC; TNNT2

201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

227600 FACTOR X DEFICIENCY

229000 FLETCHER FACTOR DEFICIENCY

238600 HYPERLIPOPROTEINEMIA, TYPE I

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES

270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS

300204 MIDLINE 2

300451 ED1 GENE; ED1

306900 HEMOPHILIA B; HEMB

600726 INDIAN HEDGEHOG; IHH

600742 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE III; TGFBR3

601032 PROTEIN KINASE C-LIKE 1; PRKCL1

601153 FRAGILE HISTIDINE TRIAD GENE; FHIT

601912 UBIQUITIN-LIKE 1; UBL1

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

602151 DISHEVELLED 2; DVL2

602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC

602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7

602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1

602652 KALLIKREIN 6; KLK6

602729 GAMMA-AMINOBUTYRIC ACID RECEPTOR, PI; GABRP

602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7

603208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13; KCNJ13

603231 ZINC FINGER PROTEIN 200; ZNF200

603232 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY F, MEMBER 1; OR1F1

603436 ZINC FINGER PROTEIN 205; ZNF205

603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2

604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4

606001 NATURAL KILLER CELL TRANSCRIPT 4

606636 DEATH EFFECTOR FILAMENT-FORMING CED4-LIKE APOPTOSIS PROTEIN

606838 APOPTOSIS-ASSOCIATED SPECK-LIKE PROTEIN CONTAINING A CARD

September 29, 2003

New Entries:

608128 SERINE/THREONINE PROTEIN KINASE WITH DBL HOMOLOGY AND PLECKSTRIN HOMOLOGY

608129 GLIOBLASTOMA DIFFERENTIATION-RELATED PROTEIN 1

608130 AMPK-RELATED PROTEIN KINASE 5

608131 SNF1/AMPK-RELATED PROTEIN KINASE

608132 TETRATRICOPEPTIDE REPEAT DOMAIN 8; TTC8

Changed Entries:

109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2

126452 DOPAMINE RECEPTOR D4; DRD4

139320 GNAS COMPLEX LOCUS; GNAS

140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA

153370 INTEGRIN, ALPHA-L; ITGAL

167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1

176960 PROTEIN KINASE C, ALPHA; PRKCA

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

209900 BARDET-BIEDL SYNDROME; BBS

600065 INTEGRIN, BETA-2; ITGB2

601696 NOVELTY SEEKING PERSONALITY TRAIT

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

September 26, 2003

New Entries:

608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij

608123 PEROXISOMAL ACYL-CoA THIOESTERASE 1; PTE1

608124 XYLOSYLTRANSFERASE 1; XYLT1

608125 XYLOSYLTRANSFERASE 2; XYLT2

608126 ACIDIC NUCLEOPLASMIC DNA-BINDING PROTEIN 1, XENOPUS, HOMOLOG OF

608127 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 4; PBX4

Changed Entries:

191350 DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1

228960 FLAUJEAC FACTOR DEFICIENCY

608111 PHD FINGER PROTEIN 9; PHF9

September 26, 2003

New Entries:

300454 MENTAL RETARDATION, X-LINKED 77; MRX77

608083 APOLIPOPROTEIN C-II; APOC2

608111 PHD FINGER PROTEIN 9; PHF9

608112 OGT-INTERACTING PROTEIN, 106-KD

608113 SARCOGLYCAN, ZETA; SGCZ

608114 CENTAURIN, ALPHA-1; CENTA1

608116 CHROMOSOME 3 OPEN READING FRAME 3

608117 PHOSPHODIESTERASE 4D-INTERACTING PROTEIN; PDE4DIP

608119 HOMEODOMAIN LEUCINE ZIPPER-CONTAINING FACTOR

608120 PARVIN, ALPHA; PARVA

608121 PARVIN, BETA; PARVB

608122 PARVIN, GAMMA; PARVG

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

104310 ALZHEIMER DISEASE 2, LATE-ONSET; AD2

111200 BLOOD GROUP--LUTHERAN SYSTEM; LU

113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I; PFHBI

118860 CHORIONIC GONADOTROPIN, BETA CHAIN; CGB

119530 OROFACIAL CLEFT 1; OFC1

123310 CREATINE KINASE, MUSCLE TYPE; CKM

125263 SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER

131340 PRODYNORPHIN; PDYN

137241 GASTRIC INHIBITORY POLYPEPTIDE RECEPTOR; GIPR

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

147910 KALLIKREIN 1; KLK1

148820 WAARDENBURG SYNDROME, TYPE III; WS3

153390 LYMPHOCYTE-SPECIFIC PROTEIN-TYROSINE KINASE; LCK

153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1

157300 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 1

160900 DYSTROPHIA MYOTONICA 1

165060 TRANSFER RNA PHOSPHOSERINE; TRSP

168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

170100 PEPTIDASE D; PEPD

182410 SNEDDON SYNDROME

191525 URACIL-DNA GLYCOSYLASE; UNG

194355 X BOX-BINDING PROTEIN 1; XBP1

207750 APOLIPOPROTEIN C-II DEFICIENCY

227650 FANCONI ANEMIA; FA

260565 PEHO SYNDROME

300046 MENTAL RETARDATION, X-LINKED 23; MRX23

300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO

300324 MENTAL RETARDATION, X-LINKED 53; MRX53

300453 XAP5 GENE

300454 MENTAL RETARDATION, X-LINKED 77; MRX77

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

516006 COMPLEX I, SUBUNIT ND6; MTND6

530000 KEARNS-SAYRE SYNDROME; KSS

600065 INTEGRIN, BETA-2; ITGB2

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

600375 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; XRCC2

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

600745 APOLIPOPROTEIN C-IV; APOC4

600798 HERPESVIRUS ENTRY MEDIATOR B; HVEB

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601556 ATAXIN 1; ATX1

601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN

601979 HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION

602354 LINKER FOR ACTIVATION OF T CELLS; LAT

604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, LOCUS 1

606170 GENITOPATELLAR SYNDROME

606597 PAIRED BOX GENE 3; PAX3

607334 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CHROMOSOME REGION GENE

607432 LISSENCEPHALY I; LIS1

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

608071 SHFM3 GENE; SHFM3

608112 OGT-INTERACTING PROTEIN, 106-KD

608117 PHOSPHODIESTERASE 4D-INTERACTING PROTEIN; PDE4DIP

September 23, 2003

New Entries:

300453 DXS9928E

608099 DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, TYPE 2; DMDA2

608102 CLN5 GENE; CLN5

608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND

608108 CRANIOFACIAL DEVELOPMENT PROTEIN 1; CFDP1

608109 PSEUDOURIDINE SYNTHASE 1; PUS1

608110 p21-ACTIVATED KINASE 6; PAK6

Changed Entries:

107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1

109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1

114290 CAMPOMELIC DYSPLASIA

120361 MATRIX METALLOPROTEINASE 9; MMP9

133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1

140555 HEAT-SHOCK 70-KD PROTEIN 6; HSPA6

147050 IgE RESPONSIVENESS, ATOPIC; IGER

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT

173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB

173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

193300 VON HIPPEL-LINDAU SYNDROME; VHL

204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3

204500 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2

232200 GLYCOGEN STORAGE DISEASE I

246300 LEPROSY, SUSCEPTIBILITY TO

253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A

253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B

256731 CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5

271900 CANAVAN DISEASE

300025 CAUDAL-TYPE HOMEO BOX TRANSCRIPTION FACTOR 4; CDX4

300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO

300377 DYSTROPHIN; DMD

301300 ANEMIA, SIDEROBLASTIC, X-LINKED

308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

600119 SARCOGLYCAN, ALPHA; SGCA

600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

600900 SARCOGLYCAN, BETA; SGCB

601173 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE

601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601780 CEROID LIPOFUSCINOSIS, NEURONAL, LATE INFANTILE, VARIANT

602104 SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2

602415 DYSTROBREVIN, BETA; DTNB

602910 CLAUDIN 3; CLDN3

603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

604812 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 2; LILRA2

604906 SCHIZOPHRENIA 9; SCZD9

605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14

605941 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 1; SART1

606816 SID1, C. ELEGANS, HOMOLOG OF

606829 FRDA GENE; FRDA

608034 ASPARTOACYLASE; ASPA

608102 CLN5 GENE; CLN5

September 22, 2003

New Entries:

608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

111100 FUCOSYLTRANSFERASE 3; FUT3

151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL

171760 ALKALINE PHOSPHATASE, LIVER; ALPL

176640 PRION PROTEIN; PRNP

182100 FUCOSYLTRANSFERASE 2; FUT2

191525 URACIL-DNA GLYCOSYLASE; UNG

228000 FARBER LIPOGRANULOMATOSIS

230900 GAUCHER DISEASE, TYPE II

239000 PAGET DISEASE, JUVENILE

241500 HYPOPHOSPHATASIA, INFANTILE

255110 MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II

257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1

261600 PHENYLKETONURIA

308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

600721 D-2-@HYDROXYGLUTARICACIDURIA

601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2

602016 KRUPPEL-LIKE FACTOR 2; KLF2

602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B

603176 SCHIZOPHRENIA 7; SCZD7

603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

604284 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5

605714 OCCIPITAL CALCIFICATIONS, FAMILIAL, WITH HEMORRHAGIC STROKES, LEUKOENCEPHALOPATHY,

607042 CLN3 GENE; CLN3

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

608091 CEREBELLOOCULORENAL SYNDROME 2; CORS2

September 22, 2003

New Entries:

608096 EPILEPSY, FAMILIAL TEMPORAL LOBE

Changed Entries:

104221 ALPHA-1A-ADRENERGIC RECEPTOR; ADRA1A

114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

115440 CASEIN KINASE II, ALPHA-1; CSNK2A1

115441 CASEIN KINASE II, BETA; CSNK2B

115442 CASEIN KINASE II, ALPHA-2; CSNK2A2

138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

161400 NARCOLEPSY

163500 NIGHT BLINDNESS, CONGENITAL STATIONARY; CSNB3

166000 ENCHONDROMATOSIS, MULTIPLE

167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME

179605 RETINAL DEGENERATION, SLOW; RDS

186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A

186940 CD4 ANTIGEN; CD4

191170 TUMOR PROTEIN p53; TP53

194050 WILLIAMS-BEUREN SYNDROME; WBS

200700 CHONDRODYSPLASIA, GREBE TYPE

213700 CEREBROTENDINOUS XANTHOMATOSIS

230800 GAUCHER DISEASE, TYPE I

231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA

231690 GLUTARYL-CoA OXIDASE DEFICIENCY

236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,

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

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

313700 ANDROGEN RECEPTOR; AR

602544 PARKIN; PARK2

602568 METHIONINE SYNTHASE REDUCTASE; MTRR

603918 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1

604566 ALG6, S. CEREVISIAE, HOMOLOG OF

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

607048 START DOMAIN-CONTAINING PROTEIN 3

September 17, 2003

New Entries:

608089 ENDOMETRIAL CANCER

608103 ALG8, S. CEREVISIAE, HOMOLOG OF

608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

117100 CENTRALOPATHIC EPILEPSY

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1

142989 HOMEO BOX D13; HOXD13

167415 PAIRED BOX GENE 8; PAX8

168600 PARKINSON DISEASE; PD

176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1

186000 SYNDACTYLY, TYPE II

188230 THY-1 T-CELL ANTIGEN; THY1

232200 GLYCOGEN STORAGE DISEASE I

242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME

243400 ISONIAZID INACTIVATION

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

260000 HYPEROXALURIA, PRIMARY, TYPE II

261600 PHENYLKETONURIA

265800 PYCNODYSOSTOSIS

266500 REFSUM DISEASE

272200 MULTIPLE SULFATASE DEFICIENCY; MSD

273300 TESTICULAR TUMORS

274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300032 ATR-X GENE; ATRX

300037 GLYPICAN 3; GPC3

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300349 GAMMA-AMINOBUTYRIC ACID RECEPTOR, THETA; GABRQ

300377 DYSTROPHIN; DMD

300438 HYDROXYL-CoA DEHYDROGENASE DEFICIENCY

300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS

300449 MOVED TO 300448

600114 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 3; CCT3

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

600666 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3

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

600740 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3

600887 MutS, E. COLI, HOMOLOG OF, 3; MSH3

600960 SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED; SET

601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5

601403 DEDICATOR OF CYTOKINESIS 1; DOCK1

601426 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 2; NR2C2

601488 NEUTROPHIL CYTOSOLIC FACTOR 4; NCF4

601566 INHIBITOR OF GROWTH 1; ING1

601652 MYOCILIN; MYOC

601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30

601967 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7B; WNT7B

602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88

602358 HYPOCRETIN; HCRT

602393 HYPOCRETIN RECEPTOR 2; HCRTR2

602410 BROMODOMAIN AND PHD FINGER-CONTAINING PROTEIN; BRPF1

602542 BASIC TRANSCRIPTION FACTOR 3; BTF3

602593 CORNEODESMOSIN; CDSN

602646 G PROTEIN-COUPLED RECEPTOR 35; GPR35

603911 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 2; EIF3S2

603916 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 8; EIF3S8

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

604328 STRUCTURE-SPECIFIC RECOGNITION PROTEIN 1; SSRP1

604364 EPILEPSY, PARTIAL, WITH VARIABLE FOCI

604898 PREFOLDIN 4; PFDN4

605012 SUPPRESSOR OF TY 16, S. CEREVISIAE, HOMOLOG OF; SUPT16H

605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1

605422 ZINC FINGER PROTEIN 350; ZNF350

605551 C-TERMINAL PDZ DOMAIN LIGAND OF NEURONAL NITRIC OXIDE SYNTHASE

605644 KALLIKREIN 8; KLK8

605675 RING FINGER PROTEIN 14; RNF14

605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14

605977 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 2, YEAST, HOMOLOG

606269 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13C; TNFRSF13C

606362 ACID PHOSPHATASE, TESTICULAR; ACPT

606447 RNA-BINDING PROTEIN S1; RNPS1

607412 PALATE, LUNG, AND NASAL EPITHELIUM CARCINOMA-ASSOCIATED PROTEIN; PLUNC

607939 SULFATASE-MODIFYING FACTOR 1

607940 SULFATASE-MODIFYING FACTOR 2

608041 CAPILLARY MORPHOGENESIS GENE 2

608057 DNASE2-LIKE ACID DNase

Clinical Synopsis for 129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2

Clinical Synopsis for 225000 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1

Clinical Synopsis for 225060 ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE

Clinical Synopsis for 256731 CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5

September 16, 2003

New Entries:

300452 INHIBITOR OF GROWTH 2; ING2

608100 HIRA-INTERACTING PROTEIN 5; HIRIP5

608101 SPERMATID-SPECIFIC LINKER HISTONE H1-LIKE PROTEIN

Changed Entries:

131390 NIDOGEN; NID

138079 GLUCOKINASE; GCK

142750 H4 HISTONE FAMILY, MEMBER N; H4FN

147680 INTERLEUKIN 2; IL2

176807 PROSTATE CANCER

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

176911 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, BETA; PRKAR1B

186830 CD3 ANTIGEN, EPSILON SUBUNIT; CD3E

600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

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

600669 EPILEPSY, IDIOPATHIC GENERALIZED; IGE

600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2

601153 FRAGILE HISTIDINE TRIAD GENE; FHIT

601566 INHIBITOR OF GROWTH 1; ING1

602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1

603167 BCL2 ANTAGONIST OF CELL DEATH; BAD

604328 STRUCTURE-SPECIFIC RECOGNITION PROTEIN 1; SSRP1

604827 MYOCLONIC EPILEPSY, JUVENILE, 2; EJM2

605012 SUPPRESSOR OF TY 16, S. CEREVISIAE, HOMOLOG OF; SUPT16H

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

606127 MYOCARDIN

Clinical Synopsis for 601680 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B; AMCD2B

Clinical Synopsis for 606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED

September 16, 2003

New Entries:

300451 ED1 GENE; ED1

608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE

608098 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES

Clinical Synopsis for 601680 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B; AMCD2B

Clinical Synopsis for 606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED

Clinical Synopsis for 607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME

Changed Entries:

109760 5-@HYDROXYTRYPTAMINE RECEPTOR 1A; HTR1A

116806 CATENIN, BETA-1; CTNNB1

123995 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 1; COX7A1

123996 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 2; COX7A2

123997 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 3; COX7A3

129490 ECTODERMAL DYSPLASIA 3, ANHIDROTIC; ED3

129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2

144700 RENAL CELL CARCINOMA 1; RCC1

189963 GENERAL TRANSCRIPTION FACTOR IIB; GTF2B

224900 ECTODERMAL DYSPLASIA, ANHIDROTIC

225000 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1

225060 ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE

300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY

305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

600528 CARNITINE PALMITOYLTRANSFERASE I, LIVER; CPT1A

600725 SONIC HEDGEHOG; SHH

601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH

601333 SUPPRESSOR OF TY 6, S. CEREVISIAE, HOMOLOG OF; SUPT6H

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

602055 INSULIN-INDUCED GENE 1; INSIG1

602072 CYTOCHROME c OXIDASE, SUBUNIT VIa, POLYPEPTIDE 1; COX6A1

603741 ARACHIDONATE 12-LIPOXYGENASE, R TYPE; ALOX12B

604479 SIRTUIN 1; SIRT1

605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3

606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED

607206 ARACHIDONATE LIPOXYGENASE 3; ALOXE3

607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME

608095 SODIUM CHANNEL MODIFIER 1

608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE

Clinical Synopsis for 108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC

Clinical Synopsis for 108120 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1; AMCD1

Clinical Synopsis for 114300 CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT

Clinical Synopsis for 170100 PEPTIDASE D; PEPD

Clinical Synopsis for 216550 COHEN SYNDROME; COH1

Clinical Synopsis for 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4

Clinical Synopsis for 256050 NEONATAL OSSEOUS DYSPLASIA I

Clinical Synopsis for 258480 OPSISMODYSPLASIA

Clinical Synopsis for 309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

Clinical Synopsis for 600972 ACHONDROGENESIS, TYPE IB; ACG1B

Clinical Synopsis for 601076 MURCS ASSOCIATION

September 13, 2003

New Entries:

608095 SODIUM CHANNEL MODIFIER 1; SCNM1

Changed Entries:

September 12, 2003

New Entries:

608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1

Clinical Synopsis for 602668 DYSTROPHIA MYOTONICA 2; DM2

Changed Entries:

113705 BREAST CANCER 1 GENE; BRCA1

142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G

152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1

152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR

153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1

166200 OSTEOGENESIS IMPERFECTA, TYPE I

166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4

203500 ALKAPTONURIA

227200 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC

229070 FOLLICLE-STIMULATING HORMONE, ISOLATED DEFICIENCY OF

238320 HYPERGONADOTROPIC HYPOGONADISM; HHG

241080 HYPOGONADISM, DIABETES MELLITUS, ALOPECIA, MENTAL RETARDATION, AND

249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE

254780 MYOCLONIC EPILEPSY OF LAFORA

268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM

300258 ROIFMAN SYNDROME

600185 BREAST CANCER 2 GENE; BRCA2

600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7

602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA

607474 HOMOGENTISATE 1,2-DIOXYGENASE; HGD

Clinical Synopsis for 129490 ECTODERMAL DYSPLASIA 3, ANHIDROTIC; ED3

Clinical Synopsis for 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE

Clinical Synopsis for 203800 ALSTROM SYNDROME; ALMS

Clinical Synopsis for 210350 BIEMOND SYNDROME II

Clinical Synopsis for 224900 ECTODERMAL DYSPLASIA, ANHIDROTIC

Clinical Synopsis for 268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM

Clinical Synopsis for 305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

Clinical Synopsis for 309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

Clinical Synopsis for 600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ

September 11, 2003

New Entries:

608094 SOLUTE CARRIER FAMILY 37 (GLYCEROL-3-PHOSPHATE TRANSPORTER), MEMBER

Changed Entries:

105150 AMYLOIDOSIS VI

107741 APOLIPOPROTEIN E; APOE

143100 HUNTINGTON DISEASE; HD

164320 ODORANT-BINDING PROTEIN

164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS

164958 NEPHROBLASTOMA OVEREXPRESSED GENE; NOV

171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2

173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1

183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

185430 CLUSTERIN; CLU

188550 THYROID CARCINOMA, PAPILLARY

188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3

189700 TORUS PALATINUS AND TORUS MANDIBULARIS

190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS

213300 JOUBERT SYNDROME 1; JBTS1

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

600005 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II TRANSACTIVATOR; MHC2TA

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

600109 MOVED TO 602668

600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ

600644 POLIOVIRUS RECEPTOR-LIKE 1; PVRL1

601055 PLEXIN A1; PLXNA1

601789 PEROXISOME BIOGENESIS FACTOR 13; PEX13

602544 PARKIN; PARK2

602668 DYSTROPHIA MYOTONICA 2; DM2

603517 B-CELL CLL/LYMPHOMA 10; BCL10

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605548 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 15; ADAM15

605715 B7 HOMOLOG 3

606012 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 18; DFNA18

606516 MUSCLEBLIND-LIKE PROTEIN 1; MBNL1

607150 FIFTH EWING SARCOMA VARIANT

608004 INTERLEUKIN 1-INDUCED NUCLEAR ANKYRIN REPEAT PROTEIN

608071 DACTYLIN

608091 CEREBELLOOCULOR0ENAL SYNDROME 2; CORS2

608092 PALLADIN, MOUSE, HOMOLOG OF

Clinical Synopsis for 156100 MENINGIOMA 1 GENE; MN1

Clinical Synopsis for 600109 MOVED TO 602668

September 10, 2003

New Entries:

608091 CEREBELLO-OCULO-RENAL SYNDROME 2; CORS2

608092 PALLADIN, MOUSE, HOMOLOG OF

Changed Entries:

123900 VILLIN 2; VIL2

136351 FMS-RELATED TYROSINE KINASE 3; FLT3

146660 INTERLEUKIN 7; IL7

146661 INTERLEUKIN 7 RECEPTOR; IL7R

147620 INTERLEUKIN 6; IL6

155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

162091 SCHWANNOMATOSIS

164761 RET PROTOONCOGENE; RET

164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS

185000 STOMATOCYTOSIS I

190000 TRANSFERRIN; TF

203300 HERMANSKY-PUDLAK SYNDROME; HPS

213300 JOUBERT SYNDROME 1; JBTS1

300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY

308240 LYMPHOPROLIFERATIVE SYNDROME

590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH

600934 FOLATE HYDROLASE 1; FOLH1

601455 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE

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

602533 ONCOGENE DJ1

603310 PHOSPHODIESTERASE 5A; PDE5A

604310 PALLIDIN; PLDN

606350 APRATAXIN; APTX

607003 THYMIC STROMAL LYMPHOPOIETIN

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

608091 CEREBELLO-OCULO-RENAL SYNDROME 2; CORS2

Clinical Synopsis for 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

September 9, 2003

New Entries:

608082 YIPPEE-LIKE 1; YPEL1

608084 IMMUNITY-ASSOCIATED PROTEIN 1

608085 IMMUNITY-ASSOCIATED PROTEIN 2

608086 IMMUNITY-ASSOCIATED NUCLEOTIDE 4-LIKE 1; IAN4L1

608087 IMMUNITY-ASSOCIATED PROTEIN 4

608088 NEUROPATHY, HEREDITARY SENSORY, TYPE I, WITH COUGH AND GASTROESOPHAGEAL

608090 MONDO FAMILY, MEMBER A

Clinical Synopsis for 607671 DYSTONIA 13, TORSION; DYT13

Changed Entries:

102574 ACTININ, ALPHA-3; ACTN3

123400 CREUTZFELDT-JAKOB DISEASE; CJD

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

134570 FACTOR XIII, A1 SUBUNIT; F13A1

134580 FACTOR XIII, B SUBUNIT; F13B

155555 MELANOCORTIN 1 RECEPTOR; MC1R

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH

172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A

177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42

191320 MOVED TO 191339

191339 UBIQUITIN B; UBB

200600 ACHONDROGENESIS, TYPE IA; ACG1A

203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2

225200 ECTOPIA LENTIS WITH ECTOPIA OF PUPIL

225400 EHLERS-DANLOS SYNDROME, TYPE VI

230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

232220 GLYCOGEN STORAGE DISEASE Ib

256300 NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1

272650 TATSUMI FACTOR DEFICIENCY

275350 TRANSCOBALAMIN II DEFICIENCY

300059 CHROMOSOME X OPEN READING FRAME 12; CXORF12

300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

300500 ALBINISM, OCULAR, TYPE I; OA1

304400 DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION

600763 TUMOR PROTEIN, TRANSLATIONALLY-CONTROLLED 1; TPT1

600877 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 6; KCNJ6

600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B

601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1

602976 MAX-LIKE PROTEIN X; MLX

603009 DYSFERLIN; DYSF

605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14

607559 MAHOGUNIN, RING FINGER 1; MGRN1

607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES

September 8, 2003

New Entries:

608078 SCHIZOPHRENIA 11

608079 ELAC, E. COLI, HOMOLOG OF, 1; ELAC1

608080 GENE BESIDE THE MA29 DELETION

608081 SYNAPTOTAGMIN 15; SYT15

Changed Entries:

102776 ADENOSINE A2 RECEPTOR; ADORA2A

122470 CORNELIA DE LANGE SYNDROME 1; CDL1

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

147421 INCLUSION BODY MYOSITIS

154270 MALIC ENZYME 2; ME2

162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP

176300 TRANSTHYRETIN; TTR

181500 SCHIZOPHRENIA; SCZD

189200 TOES, RELATIVE LENGTH OF FIRST AND SECOND

189230 TOES, SPACE BETWEEN FIRST AND SECOND

205900 DIAMOND-BLACKFAN ANEMIA; DBA

232300 GLYCOGEN STORAGE DISEASE II

234000 HAGEMAN FACTOR DEFICIENCY

300412 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2

600538 PEROXIREDOXIN 2; PRDX2

601021 NUCLEOPORIN, 98-KD; NUP98

601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP

601568 ADDUCIN 3; ADD3

602130 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3; MAPKAPK3

603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ

603474 RIBOSOMAL PROTEIN S19; RPS19

603517 B-CELL CLL/LYMPHOMA 10; BCL10

604626 MALIC ENZYME 3; ME3

604720 TRANSFERRIN RECEPTOR 2; TFR2

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605715 B7 HOMOLOG 3

605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15

607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI

607379 NEUROFIBROMIN 2; NF2

607445 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E NUCLEAR IMPORT FACTOR

607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1; PSORAS1

September 5, 2003

Changed Entries:

104000 ALOPECIA AREATA

127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1

127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA

138040 GLUCOCORTICOID RECEPTOR; GCCR

203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC

209500 ATRICHIA WITH PAPULAR LESIONS; APL

264900 PTA DEFICIENCY

308240 LYMPHOPROLIFERATIVE SYNDROME

600005 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II TRANSACTIVATOR; MHC2TA

600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2

600480 TRANSCRIPTION FACTOR 12; TCF12

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

601055 PLEXIN A1; PLXNA1

601059 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR

601975 PLAKOPHILIN 1; PKP1

604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1

604240 HOMEO BOX 11-LIKE 1; HOX11L1

604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME

606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31

608032 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 2

608074 PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN; PDCD6IP

September 4, 2003

New Entries:

608074 PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN; PDCD6IP

608075 PHOSPHOLIPASE C, ZETA-1; PLCZ1

608076 TYROSINE KINASE, NONRECEPTOR, 1; TNK1

608077 PURINERGIC RECEPTOR P2X-LIKE 1; P2RXL1

Changed Entries:

123940 KERATIN 4; KRT4

155555 MELANOCORTIN 1 RECEPTOR; MC1R

164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

193900 WHITE SPONGE NEVUS OF CANNON

242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE

305371 GATA-BINDING PROTEIN 1; GATA1

309900 MUCOPOLYSACCHARIDOSIS TYPE II

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601768 SH3 DOMAIN, GRB2-LIKE, 1; SH3GL1

601891 CYSTATIN 6; CST6

603167 BCL2 ANTAGONIST OF CELL DEATH; BAD

603362 SH3 DOMAIN, GRB2-LIKE, 3; SH3GL3

607343 SAL-LIKE 4; SALL4

September 3, 2003

New Entries:

608073 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 2; NPM2

Changed Entries:

103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

142000 HEMOGLOBIN--DELTA LOCUS; HBD

143100 HUNTINGTON DISEASE; HD

164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1

186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES

230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

232220 GLYCOGEN STORAGE DISEASE Ib

248510 MANNOSIDOSIS, BETA A, LYSOSOMAL

300415 MYOTUBULARIN; MTM1

602089 HEMANGIOMA, CAPILLARY INFANTILE

608049 AUTISM, SUSCEPTIBILITY TO, 4

608070 HOMOCYSTEINE- AND ENDOPLASMIC RETICULUM STRESS-INDUCIBLE PROTEIN,

608073 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 2; NPM2

September 2, 2003

New Entries:

608069 MITOGEN-INDUCIBLE GENE 6

608070 HOMOCYSTEINE- AND ENDOPLASMIC RETICULUM STRESS-INDUCIBLE PROTEIN,

608071 DACTYLIN

Clinical Synopsis for 607936 EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF

Changed Entries:

116953 CYCLIN-DEPENDENT KINASE 2; CDK2

123840 PEPTIDYL-PROLYL ISOMERASE A; PPIA

130130 ELASTASE 2; ELA2

135600 FIBRONECTIN 1; FN1

138032 GLUCAGON-LIKE PEPTIDE 1 RECEPTOR; GLP1R

139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1

146700 ICHTHYOSIS VULGARIS

147620 INTERLEUKIN 6; IL6

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

160150 MYOPATHY, CENTRONUCLEAR

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

164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS

190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS

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

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

192975 INTEGRIN, ALPHA-4; ITGA4

203300 HERMANSKY-PUDLAK SYNDROME; HPS

306700 HEMOPHILIA A

516006 COMPLEX I, SUBUNIT ND6; MTND6

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST

600900 SARCOGLYCAN, BETA; SGCB

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601626 ACUTE MYELOGENOUS LEUKEMIA, FAMILIAL; AML

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

601693 UNCOUPLING PROTEIN 2; UCP2

601922 ANGIOPOIETIN 2; ANGPT2

602088 NEPHRONOPHTHISIS 2; NPHP2

602368 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 2; GRID2

602575 LIM HOMEO BOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

602917 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1

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

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

603962 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1

604176 SUPPRESSOR OF CYTOKINE SIGNALING 3

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

604611 RECQ PROTEIN-LIKE 2; RECQL2

604612 NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B

605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4

605478 SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN

605516 CADHERIN 23; CDH23

605717 B7 HOMOLOG 2

606755 PEPTIDYLARGININE DEIMINASE III; PADI3

606921 G PROTEIN-COUPLED RECEPTOR 78; GPR78

607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5

607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31

607139 FANCONI ANEMIA COMPLEMENTATION GROUP A GENE; FANCA

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1

607928 WHIRLIN; WHRN

607934 PEPTIDYLARGININE DEIMINASE, TYPE I; PADI1

607935 PEPTIDYLARGININE DEIMINASE, TYPE II; PADI2

607942 PHOSPHOINOSITIDE 3-KINASE ADAPTOR PROTEIN 1

607943 Ca(2+)-PROMOTED RAS INACTIVATOR

607962 MICRO RNA 23

608052 TORSIN 2A; TOR2A