PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for April, 2005

April 29, 2005

New Entries:

609307 SPINOCEREBELLAR ATAXIA 27; SCA27

609334 CHROMOSOME 18 PERICENTRIC INVERSION

609337 BIC GENE

609338 CAROTID INTIMAL MEDIAL THICKNESS 1

609339 ESCOBAR SYNDROME, TYPE B

609341 TRYPTASE, GAMMA-1; TPSG1

609342 GASTRIC INTRINSIC FACTOR; GIF

609343 PROTEASE, SERINE, 22; PRSS22

609344 KIELIN/CHORDIN-LIKE PROTEIN

609346 RECEPTOR EXPRESSION-ENHANCING PROTEIN 6

609347 RECEPTOR EXPRESSION-ENHANCING PROTEIN 2

609348 RECEPTOR EXPRESSION-ENHANCING PROTEIN 3

609349 RECEPTOR EXPRESSION-ENHANCING PROTEIN 4

609350 RECEPTOR-TRANSPORTING PROTEIN 4

609351 ADP-RIBOSYLATION FACTOR-LIKE 11; ARL11

Changed Entries:

103280 H19 GENE; H19

108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS

108733 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2

117550 SOTOS SYNDROME

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

132600 PILOMATRIXOMA

133700 EXOSTOSES, MULTIPLE, TYPE I

136850 FUMARATE HYDRATASE; FH

138040 GLUCOCORTICOID RECEPTOR; GCCR

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

146790 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR; FCGR2A

151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL

153450 LYSOZYME; LYZ

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

155541 MELANOCORTIN 4 RECEPTOR; MC4R

157900 MOEBIUS SYNDROME 1; MBS1

160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

161650 NEBULIN; NEB

163731 NITRIC OXIDE SYNTHASE 1; NOS1

163950 NOONAN SYNDROME 1; NS1

174763 POLYMERASE, DNA, GAMMA; POLG

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

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

181270 SCALP-EAR-NIPPLE SYNDROME

181510 SCHIZOPHRENIA 1; SCZD1

184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1

187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT

190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2

191080 TRYPTASE, ALPHA/BETA-1; TPSAB1

191081 TRYPTASE, BETA-2; TPSB2

191092 TSC2 GENE; TSC2

191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A

194072 WAGR SYNDROME

201810 ADRENAL HYPERPLASIA II

213002 CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS

218700 THYROID DYSGENESIS

219100 CUTIS LAXA

219700 CYSTIC FIBROSIS; CF

220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1

225500 ELLIS-VAN CREVELD SYNDROME; EVC

232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA

235200 HEMOCHROMATOSIS; HFE

240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

249000 MECKEL SYNDROME, TYPE 1; MKS1

256030 NEMALINE MYOPATHY 2; NEM2

261000 INTRINSIC FACTOR DEFICIENCY; IFD

265000 PTERYGIUM SYNDROME

300032 ATR-X GENE; ATRX

300302 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE; TCTE1L

300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB

301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR

301500 FABRY DISEASE

309490 CHUDLEY-LOWRY SYNDROME

312865 SHORT STATURE HOMEOBOX; SHOX

600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3

600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2

600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4

601007 LEPTIN RECEPTOR; LEPR

601145 CYSTATIN B; CSTB

601224 POTOCKI-SHAFFER SYNDROME

601283 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1

601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601515 FIBROBLAST GROWTH FACTOR 14; FGF14

601877 ENDOMETRIAL BLEEDING-ASSOCIATED FACTOR; EBAF

602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1

602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1

602533 ONCOGENE DJ1

602646 G PROTEIN-COUPLED RECEPTOR 35; GPR35

602667 NBS1 GENE; NBS1

602849 MUENKE SYNDROME

603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3

603595 CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS

603865 GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 2; GFPT2

604823 BarH-LIKE HOMEOBOX GENE 2; BARX2

604933 MutY, E. COLI, HOMOLOG OF; MUTYH

605286 CALPAIN 10; CAPN10

605287 ARGINYL AMINOPEPTIDASE-LIKE 1; RNPEPL1

605290 OPTIC ATROPHY 1 GENE; OPA1

605386 MICRO RNA LET7A1; MIRNLET7A1

605516 CADHERIN 23; CDH23

605565 RESISTIN; RETN

605745 CYTOCHROME b REDUCTASE 1; CYBRD1

606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2

606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY

606510 Fc RECEPTOR-LIKE PROTEIN 3; FCRL3

606579 SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607181 TRANSMEMBRANE PROTEIN 7; TMEM7

607538 NDE1-LIKE 1; NDEL1

607633 XANTHINE DEHYDROGENASE; XDH

607688 PARKINSON DISEASE 11

607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML

608034 ASPARTOACYLASE; ASPA

608177 EXOSTOSIN 1; EXT1

608447 CAROTID INTIMAL MEDIAL THICKNESS 2

608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE

608506 MITOFUSIN 1; MFN1

608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1

609135 APLASTIC ANEMIA

609185 ZINC FINGER AND HOMEODOMAIN PROTEIN 2; ZHX2

609192 LOEYS-DIETZ AORTIC ANEURYSM SYNDROME; LDAS

609272 TRYPTASE, DELTA-1; TPSD1

609337 BIC GENE

Clinical Synopsis for 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III

Clinical Synopsis for 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

April 26, 2005

New Entries:

609330 ONCOPROTEIN-INDUCED TRANSCRIPT 3, MOUSE, HOMOLOG OF; OIT3

609331 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 4; BHLHB4

609332 TETRATRICOPEPTIDE REPEAT DOMAIN 7A; TTC7A

609333 TRACE AMINE-ASSOCIATED RECEPTOR 1; TAAR1

609335 CHROMOSOME 1 OPEN READING FRAME 27; C1ORF27

609336 ANGIOPOIETIN-LIKE 6; ANGPTL6

Changed Entries:

103280 H19 GENE; H19

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

123590 CRYSTALLIN, ALPHA-B; CRYAB

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

143100 HUNTINGTON DISEASE; HD

147280 INSULIN-LIKE GROWTH FACTOR II RECEPTOR; IGF2R

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

161200 NAIL-PATELLA SYNDROME; NPS

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

167415 PAIRED BOX GENE 8; PAX8

174763 POLYMERASE, DNA, GAMMA; POLG

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

191845 UROMODULIN; UMOD

193530 WEYERS ACROFACIAL DYSOSTOSIS

194050 WILLIAMS-BEUREN SYNDROME; WBS

235000 HEMIHYPERTROPHY

253200 MUCOPOLYSACCHARIDOSIS TYPE VI

300120 CHROMOSOME X OPEN READING FRAME 6; CXORF6

300309 UBIQUITIN-SPECIFIC PROTEASE 26; USP26

300377 DYSTROPHIN; DMD

300415 MYOTUBULARIN; MTM1

300535 OCRL1 GENE; OCRL1

312865 SHORT STATURE HOMEOBOX; SHOX

600811 DNA DAMAGE-BINDING PROTEIN 2; DDB2

601367 STROKE

602286 STEROL C5-DESATURASE-LIKE; SC5DL

602504 SHORT STATURE HOMEOBOX 2; SHOX2

602977 GLYCOPROTEIN 2, ZYMOGEN GRANULE MEMBRANE; GP2

604508 COP9, SUBUNIT 2; COPS2

604848 MOVED TO 604849

604849 TRACE AMINE-ASSOCIATED RECEPTOR 2; TAAR2

605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1

606765 THYROID PEROXIDASE; TPO

606927 TRACE AMINE-ASSOCIATED RECEPTOR 8; TAAR8

607330 LATHOSTEROLOSIS

607405 TRACE AMINE-ASSOCIATED RECEPTOR 5; TAAR5

607462 DRPLA GENE; DRPLA

608282 TRACE AMINE-ASSOCIATED RECEPTOR 9; TAAR9

608923 TRACE AMINE-ASSOCIATED RECEPTOR 6; TAAR6

609328 URIDINE/CYTIDINE KINASE 1; UCK1

609329 URIDINE/CYTIDINE KINASE 2; UCK2

Clinical Synopsis for 166250 OSTEOGLOPHONIC DYSPLASIA; OGD

April 22, 2005

New Entries:

609326 MICRO RNA 1

609327 MICRO RNA 124

609328 URIDINE/CYTIDINE KINASE 1; UCK1

609329 URIDINE/CYTIDINE KINASE 2; UCK2

Changed Entries:

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

130020 EHLERS-DANLOS SYNDROME, TYPE III

131320 GATA-BINDING PROTEIN 3; GATA3

137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1

146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

147910 KALLIKREIN 1; KLK1

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1

179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51

180200 RETINOBLASTOMA; RB1

180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT

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

191710 URIDINE MONOPHOSPHATE/CYTIDINE MONOPHOSPHATE KINASE

214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A

229200 EHLERS-DANLOS SYNDROME, TYPE VIB

268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE

300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A

300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A

313700 ANDROGEN RECEPTOR; AR

600185 BREAST CANCER 2 GENE; BRCA2

600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1

600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2

600985 TENASCIN-XB; TNXB

601517 ATAXIN 2; ATXN2

601652 MYOCILIN; MYOC

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

603850 DYNAMIN 1-LIKE; DNM1L

605282 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

605386 LET7, C. ELEGANS, HOMOLOG OF, A1

605569 G PROTEIN-COUPLED RECEPTOR 83; GPR83

605640 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 9; SIGLEC9

606665 OPSIN 4; OPN4

607121 MOVED TO 605569

607416 CHL1, MOUSE, HOMOLOG OF; CHL1

607715 TRANSFORMING GROWTH FACTOR-BETA-STIMULATED GENE TSC22

607754 MAKORIN 1; MKRN1

607962 MICRO RNA 23

608363 MICRODUPLICATION 22q11.2

608632 MICRO RNA 196

April 21, 2005

New Entries:

609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1

609322 RHABDOID TUMOR; RDT

609323 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 3; OLIG3

609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA

609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES

Clinical Synopsis for 603280 MOVED TO 157640

Clinical Synopsis for 604922 CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA

Clinical Synopsis for 605321 FRONTOOCULAR SYNDROME

Clinical Synopsis for 609200 MYOTILINOPATHY

Clinical Synopsis for 609222 CEPHALOCELE, ATRETIC

Changed Entries:

104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT

114025 CATENIN, ALPHA-2; CTNNA2

132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1

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

155255 MEDULLOBLASTOMA

160550 MOVED TO 157640

171200 THIOUREA TASTING

175200 PEUTZ-JEGHERS SYNDROME; PJS

178350 PUBIC BONE DYSPLASIA

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

228000 FARBER LIPOGRANULOMATOSIS

230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

240800 HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

252030 REMOVED FROM DATABASE

256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY

260500 PAPILLOMA OF CHOROID PLEXUS

260650 PELLAGRA-LIKE SYNDROME

266130 5-@OXOPROLINURIA

268500 ROWLEY-ROSENBERG SYNDROME

268900 SARCOSINEMIA

270500 SPASTIC ATAXIA

271550 SPONDYLOENCHONDRODYSPLASIA

271980 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1

272200 MULTIPLE SULFATASE DEFICIENCY; MSD

272750 TAY-SACHS DISEASE, AB VARIANT

275350 TRANSCOBALAMIN II DEFICIENCY

276700 TYROSINEMIA, TYPE I

300008 CHLORIDE CHANNEL 5; CLCN5

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300394 TAFAZZIN; TAZ

302060 BARTH SYNDROME; BTHS

307030 HYPERGLYCEROLEMIA

308990 LOW MOLECULAR WEIGHT PROTEINURIA, ASYMPTOMATIC; LMWP

309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

530000 KEARNS-SAYRE SYNDROME; KSS

550000 MOVED TO 157640

557000 PEARSON MARROW-PANCREAS SYNDROME

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600084 MACROCYTOSIS, FAMILIAL

600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ

600346 POLYCOMB GROUP RING FINGER PROTEIN 2; PCGF2

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8

600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH

600721 D-2-@HYDROXYGLUTARIC ACIDURIA

600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A

600918 CYSTINURIA, TYPE III; CSNU3

601002 GLUTATHIONE SYNTHETASE; GSS

601539 PEROXISOME BIOGENESIS DISORDERS; PBD

601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

601779 MOVED TO 258450

603358 GRACILE SYNDROME

603593 SOLUTE CARRIER FAMILY 7, MEMBER 7; SLC7A7

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

604922 CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA

605321 FRONTOOCULAR SYNDROME

605590 SPLICING FACTOR 3B, SUBUNIT 1; SF3B1

605662 RAS FAMILY, MEMBER RAB36; RAB36

605663 RHABDOID TUMOR DELETION REGION GENE 1; RTDR1

606580 OPTIC ATROPHY 3 GENE; OPA3

606812 FUMARASE DEFICIENCY

606869 HEXOSAMINIDASE A; HEXA

607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5

607107 NASOPHARYNGEAL CARCINOMA 1

607478 TRYPTOPHAN HYDROXYLASE 2; TPH2

608053 ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA

608272 NEURAMINIDASE 1; NEU1

608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1

608310 ARGININOSUCCINATE LYASE; ASL

609058 METHYLMALONYL-CoA MUTASE; MUT

609186 D-2-@HYDROXYGLUTARATE DEHYDROGENASE

609271 KERATOCONUS 4; KTCN4

Clinical Synopsis for 102300 RESTLESS LEGS SYNDROME 1

Clinical Synopsis for 128235 DYSTONIA 12; DYT12

Clinical Synopsis for 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

Clinical Synopsis for 160550 MOVED TO 157640

Clinical Synopsis for 161400 NARCOLEPSY 1; NRCLP1

Clinical Synopsis for 175780 PORENCEPHALY, FAMILIAL

Clinical Synopsis for 234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN

Clinical Synopsis for 252030 REMOVED FROM DATABASE

Clinical Synopsis for 256600 NEUROAXONAL DYSTROPHY, INFANTILE

Clinical Synopsis for 258040 OEIS COMPLEX

Clinical Synopsis for 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY

Clinical Synopsis for 300412 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2

Clinical Synopsis for 535000 LEBER OPTIC ATROPHY

Clinical Synopsis for 550000 MOVED TO 157640

Clinical Synopsis for 601779 MOVED TO 258450

Clinical Synopsis for 605013 MICROHYDRANENCEPHALY; MHAC

April 20, 2005

New Entries:

609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26

609315 TRIPARTITE MOTIF-CONTAINING PROTEIN 7; TRIM7

609316 TRIPARTITE MOTIF-CONTAINING PROTEIN 31; TRIM31

609317 TRIPARTITE MOTIF-CONTAINING PROTEIN 36; TRIM36

609318 TRIPARTITE MOTIF-CONTAINING PROTEIN 45; TRIM45

609321 SAS6, C. ELEGANS, HOMOLOG OF

Clinical Synopsis for 268130 REVESZ SYNDROME

Clinical Synopsis for 300166 OCULOFACIOCARDIODENTAL SYNDROME

Clinical Synopsis for 300273 GOITER, MULTINODULAR 2; MNG2

Clinical Synopsis for 300412 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2

Clinical Synopsis for 605013 MICROHYDRANENCEPHALY; MHAC

Clinical Synopsis for 605355 NEMALINE MYOPATHY 5; NEM5

Clinical Synopsis for 605373 PARAGANGLIOMAS 3; PGL3

Clinical Synopsis for 606159 BASAL GANGLIA DISEASE, ADULT-ONSET

Clinical Synopsis for 607004 BRACHYDACTYLY, TYPE A1, B

Clinical Synopsis for 609152 HYPERTHYROIDISM, NONAUTOIMMUNE

Clinical Synopsis for 609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD

Clinical Synopsis for 609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26

Clinical Synopsis for 609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET

Changed Entries:

104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA

108130 MOVED TO 601680

108140 MOVED TO 601680

118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1

120360 MATRIX METALLOPROTEINASE 2; MMP2

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD

164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2

171350 MOVED TO 115310

182100 FUCOSYLTRANSFERASE 2; FUT2

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

201810 ADRENAL HYPERPLASIA II

214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A

222690 DIBASICAMINOACIDURIA I

223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3

227810 FANCONI-BICKEL SYNDROME; FBS

229100 FORMIMINOTRANSFERASE DEFICIENCY

229600 FRUCTOSE INTOLERANCE, HEREDITARY

230350 GALACTOSE EPIMERASE DEFICIENCY

231670 GLUTARIC ACIDEMIA I

231675 ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH

231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD

231690 GLUTARYL-CoA OXIDASE DEFICIENCY

231900 GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA

234500 HARTNUP DISORDER

235200 HEMOCHROMATOSIS; HFE

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

236795 3-@HYDROXYISOBUTYRIC ACIDURIA

236800 HYDROXYKYNURENINURIA

237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO

239400 HYPERPIPECOLATEMIA

239500 HYPERPROLINEMIA, TYPE I

242550 ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA

242600 IMINOGLYCINURIA

243500 ISOVALERIC ACIDEMIA; IVA

245400 LACTIC ACIDOSIS, CONGENITAL INFANTILE

246450 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY

248600 MAPLE SYRUP URINE DISEASE

249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA

250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I

250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV

251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

251120 METHYLMALONIC ACIDURIA III

254780 MYOCLONIC EPILEPSY OF LAFORA

254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

257950 MOVED TO 164300

258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III

258900 OROTIC ACIDURIA I

258920 OROTIC ACIDURIA II

259750 OSTEOPOROSIS, JUVENILE

259900 HYPEROXALURIA, PRIMARY, TYPE I

260000 HYPEROXALURIA, PRIMARY, TYPE II

268130 REVESZ SYNDROME

272800 TAY-SACHS DISEASE; TSD

277950 WINCHESTER SYNDROME

300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2

300273 GOITER, MULTINODULAR 2; MNG2

300412 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2

600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1

601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A

601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1

601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D

601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C

602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1

602390 HEMOCHROMATOSIS, JUVENILE; JH

602544 PARKIN; PARK2

602592 LYMPHOCYTE ANTIGEN CD5-LIKE; CD5L

602704 MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4

602952 WOLF-HIRSCHHORN SYNDROME CANDIDATE 1; WHSC1

603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE

603885 BCL2-ASSOCIATED ATHANOGENE 5; BAG5

604250 HEMOCHROMATOSIS, TYPE 3; HFE3

604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2

604653 SOLUTE CARRIER FAMILY 40 (IRON-REGULATED TRANSPORTER), MEMBER 1; SLC40A1

605013 MICROHYDRANENCEPHALY; MHAC

605156 NODULOSIS-ARTHROPATHY-OSTEOLYSIS SYNDROME

605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE

605355 NEMALINE MYOPATHY 5; NEM5

605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2

606069 HEMOCHROMATOSIS, TYPE 4; HFE4

606102 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

607004 BRACHYDACTYLY, TYPE A1, B

607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K

609242 KANZAKI DISEASE

609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2

Clinical Synopsis for 108130 MOVED TO 601680

Clinical Synopsis for 108140 MOVED TO 601680

Clinical Synopsis for 114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET

Clinical Synopsis for 115310 PARAGANGLIOMAS 4; PGL4

Clinical Synopsis for 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

Clinical Synopsis for 142700 HIP, DISLOCATION OF, CONGENITAL

Clinical Synopsis for 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

Clinical Synopsis for 168000 PARAGANGLIOMAS 1; PGL1

Clinical Synopsis for 171350 MOVED TO 115310

Clinical Synopsis for 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Clinical Synopsis for 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

Clinical Synopsis for 213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1

Clinical Synopsis for 217080 CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA

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

Clinical Synopsis for 243910 ARIMA SYNDROME

Clinical Synopsis for 256500 NETHERTON SYNDROME; NETH

Clinical Synopsis for 275200 THYROTROPIN RESISTANCE

Clinical Synopsis for 535000 LEBER OPTIC ATROPHY

Clinical Synopsis for 600057 EXSTROPHY OF BLADDER

Clinical Synopsis for 601650 PARAGANGLIOMAS 2; PGL2

Clinical Synopsis for 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Clinical Synopsis for 604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10

Clinical Synopsis for 609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD

April 19, 2005

New Entries:

300535 OCRL1 GENE; OCRL1

609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH

609314 TESTIS-SPECIFIC PROTEIN 2; TSGA2

609319 HEMATOCRIT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6

609320 HEMATOCRIT AND HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 9

Changed Entries:

105650 DIAMOND-BLACKFAN ANEMIA, AUTOSOMAL DOMINANT

107730 APOLIPOPROTEIN B; APOB

114200 CAMPTODACTYLY

118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1

123450 CRI-DU-CHAT SYNDROME

133435 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1

133550 SOLUTE CARRIER FAMILY 1 (NEURONAL/EPITHELIAL HIGH AFFINITY GLUTAMATE

134600 FANCONI RENOTUBULAR SYNDROME

136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1

137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1

138030 GLUCAGON; GCG

140700 HEINZ BODY ANEMIAS

147421 INCLUSION BODY MYOSITIS

147760 INTERLEUKIN 1-ALPHA; IL1A

147880 INTERLEUKIN 6 RECEPTOR; IL6R

147920 KABUKI SYNDROME

150220 LACTOSE INTOLERANCE, CONGENITAL

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

155541 MELANOCORTIN 4 RECEPTOR; MC4R

156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

167800 PANCREATITIS, HEREDITARY; PCTT

168600 PARKINSON DISEASE; PD

181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2

182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3

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

182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

191339 UBIQUITIN B; UBB

201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF

201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF

203740 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

203750 ALPHA-METHYLACETOACETIC ACIDURIA

204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3

204730 AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,

204750 AMINOADIPIC ACIDURIA

207900 ARGININOSUCCINIC ACIDURIA

210000 BEHR SYNDROME

210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF

210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY

210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY

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

214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A

215600 CIRRHOSIS, FAMILIAL

215700 CITRULLINEMIA, CLASSIC

216550 COHEN SYNDROME; COH1

218040 COSTELLO SYNDROME

219750 CYSTINOSIS, ADULT NONNEPHROPATHIC

219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

220100 CYSTINURIA; CSNU

220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

220120 D-GLYCERIC ACIDEMIA

222350 DIAMINOPENTANURIA

222470 DIARRHEA, FATAL INFANTILE, WITH ABNORMAL HAIR

222690 DIBASICAMINO ACIDURIA I

222700 LYSINURIC PROTEIN INTOLERANCE; LPI

222730 DICARBOXYLICAMINO ACIDURIA

223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL

242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE

300009 DENT DISEASE

300147 PROSTATE CANCER, HEREDITARY, X-LINKED; HPCX

300338 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-2; CNGA2

300365 TOLL-LIKE RECEPTOR 7; TLR7

300442 MOVED TO 311900

300534 MENTAL RETARDATION, X-LINKED, JARID1C-RELATED

300535 OCRL1 GENE; OCRL1

309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

311900 TARP SYNDROME; TARPS

314250 DYSTONIA 3, TORSION, X-LINKED; DYT3

314690 SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX

426000 SELECTED cDNA ON Y, MOUSE, HOMOLOG OF; SMCY

600106 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 40-KD; INPP5A

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

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

600830 TRIPARTITE MOTIF-CONTAINING PROTEIN 26; TRIM26

600925 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J; PTPRJ

600959 COATOMER PROTEIN COMPLEX, SUBUNIT BETA; COPB

601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D

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

601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D

601652 MYOCILIN; MYOC

602069 NEUROPILIN 1; NRP1

602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G

602165 RET FINGER PROTEIN; RFP

602380 UROPLAKIN 1B; UPK1B

602508 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, BETA SUBUNIT;

602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11

603696 SEPTIN 4; SEPT4

604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1

604297 SYNAPTOJANIN 1; SYNJ1

605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE

605558 FIBROBLAST GROWTH FACTOR 20; FGF20

605701 TRIPARTITE MOTIF-CONTAINING PROTEIN 10; TRIM10

606439 SPG3A GENE; SPG3A

606501 MYOTUBULARIN-RELATED PROTEIN 12; MTMR12

606588 DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L

606918 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 5; GOLGA5

607538 NDE1-LIKE 1; NDEL1

607770 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 5;

607771 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 6;

607834 NEUROTICISM

608011 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 3; GNL3

608014 HEAT-SHOCK 22-KD PROTEIN 8; HSPB8

608639 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 8;

608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L

609044 G PROTEIN-COUPLED RECEPTOR 120; GPR120

609243 RETINOIC ACID EARLY TRANSCRIPT 1E; RAET1E

Clinical Synopsis for 158590 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II

Clinical Synopsis for 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Clinical Synopsis for 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2

Clinical Synopsis for 607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E

Clinical Synopsis for 607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J

Clinical Synopsis for 608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L

April 15, 2005

New Entries:

609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2

609313 ERYTHROKERATODERMIA VARIABILIS 3

Changed Entries:

114500 COLORECTAL CANCER; CRC

118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1

120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1

134370 COMPLEMENT FACTOR H; CFH

134371 COMPLEMENT FACTOR H-RELATED 1; CFHL1

147910 KALLIKREIN 1; KLK1

153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1

161200 NAIL-PATELLA SYNDROME; NPS

176270 PRADER-WILLI SYNDROME; PWS

181510 SCHIZOPHRENIA 1; SCZD1

188450 THYROGLOBULIN; TG

190000 TRANSFERRIN; TF

190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2

191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1

223100 HYPOLACTASIA, ADULT TYPE

251170 MEVALONATE KINASE; MVK

251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1

256500 NETHERTON SYNDROME; NETH

260920 HYPER-IgD SYNDROME; HIDS

300309 UBIQUITIN-SPECIFIC PROTEASE 26; USP26

305700 SERTOLI CELL-ONLY SYNDROME

313430 SRY-BOX 3; SOX3

600258 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 1; PMS1

600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1

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

600889 COMPLEMENT FACTOR H-RELATED 2; CFHL2

602380 UROPLAKIN 1B; UPK1B

602569 SYNUCLEIN, BETA; SNCB

603202 LACTASE; LCT

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

605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5

605336 COMPLEMENT FACTOR H-RELATED 3; CFHL3

605337 COMPLEMENT FACTOR H-RELATED 4; CFHL4

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

607265 EPSIN 4

608363 MICRODUPLICATION 22q11.2

608593 COMPLEMENT FACTOR H-RELATED 5; CFHL5

609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2

Mini-MIM for 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

April 14, 2005

New Entries:

609308 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K

609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2

Changed Entries:

102577 ACTIVATOR 1, 37-KD SUBUNIT; RFC4

102579 REPLICATION FACTOR C, 140-KD SUBUNIT; RFC1

104155 AT MOTIF-BINDING FACTOR 1; ATBF1

104310 ALZHEIMER DISEASE 2, LATE-ONSET; AD2

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1

113705 BREAST CANCER 1 GENE; BRCA1

114240 CALPAIN 3; CAPN3

114400 LYNCH CANCER FAMILY SYNDROME II; LCFS2

114500 COLORECTAL CANCER; CRC

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1

123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2

134371 COMPLEMENT FACTOR H-RELATED 1; CFHL1

137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1

137215 GASTRIC CANCER

142340 HERNIA, CONGENITAL DIAPHRAGMATIC; HCD

143100 HUNTINGTON DISEASE; HD

147683 INTERLEUKIN 13; IL13

158320 MUIR-TORRE SYNDROME; MTS

162200 NEUROFIBROMATOSIS, TYPE I; NF1

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

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO

190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

232500 GLYCOGEN STORAGE DISEASE IV

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

236670 WALKER-WARBURG SYNDROME

248200 STARGARDT DISEASE 1; STGD1

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

276300 TURCOT SYNDROME

278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA

600258 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 1; PMS1

600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2

600404 REPLICATION FACTOR C, SUBUNIT 2; RFC2

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

600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A

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

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4

601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

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

602568 METHIONINE SYNTHASE REDUCTASE; MTRR

602667 NBS1 GENE; NBS1

602710 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 2; APBB2

603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5

603382 MutS, E. COLI, HOMOLOG OF, 5; MSH5

603554 OMENN SYNDROME

604025 AXIS INHIBITOR 2; AXIN2

604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50

604370 OVARIAN CANCER, EPITHELIAL

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

604610 RECQ PROTEIN-LIKE 3; RECQL3

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

605244 CARNEY COMPLEX, TYPE II; CNC2

605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1

606202 MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP

606702 PKHD1 GENE; PKHD1

607340 G PROTEIN-COUPLED RECEPTOR 51; GPR51

607358 AUTOIMMUNE REGULATOR; AIRE

607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

608089 ENDOMETRIAL CANCER

609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2

April 13, 2005

Changed Entries:

114400 LYNCH CANCER FAMILY SYNDROME II; LCFS2

114500 COLORECTAL CANCER; CRC

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

126660 DREBRIN E; DBN1

134371 COMPLEMENT FACTOR H-RELATED 1; CFHL1

137215 GASTRIC CANCER

164160 LEPTIN; LEP

165590 OROFACIODIGITAL SYNDROME X; OFD10

174300 OROFACIODIGITAL SYNDROME V; OFD5

179530 RAS-RELATED PROTEIN RAP1B; RAP1B

182205 SEX HORMONE-BINDING GLOBULIN; SHBG

182452 SOMATOSTATIN RECEPTOR 2; SSTR2

182455 SOMATOSTATIN RECEPTOR 5; SSTR5

227650 FANCONI ANEMIA; FA

227660 MOVED TO 300514

252100 MOHR SYNDROME

252800 ALPHA-L-IDURONIDASE; IDUA

258850 OROFACIODIGITAL SYNDROME III; OFD3

258860 OROFACIODIGITAL SYNDROME IV; OFD4

258865 OROFACIODIGITAL SYNDROME IX; OFD9

260350 PANCREATIC CARCINOMA

277170 VARADI-PAPP SYNDROME

300442 MOVED TO 311900

300484 OROFACIODIGITAL SYNDROME VIII; OFD8

311900 TARP SYNDROME; TARPS

313430 SRY-BOX 3; SOX3

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

600889 COMPLEMENT FACTOR H-RELATED 2; CFHL2

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4

601007 LEPTIN RECEPTOR; LEPR

601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3

603382 MutS, E. COLI, HOMOLOG OF, 5; MSH5

604933 MutY, E. COLI, HOMOLOG OF; MUTYH

605254 NICASTRIN; NCSTN

605336 COMPLEMENT FACTOR H-RELATED 3; CFHL3

606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1

607139 FANCA GENE; FANCA

607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12

608518 OROFACIODIGITAL SYNDROME VII; OFD7

608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9

Clinical Synopsis for 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE

Clinical Synopsis for 226670 EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY

Clinical Synopsis for 227660 MOVED TO 300514

Clinical Synopsis for 230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

Clinical Synopsis for 252800 ALPHA-L-IDURONIDASE; IDUA

Clinical Synopsis for 601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA

April 13, 2005

New Entries:

Clinical Synopsis for 609241 SCHINDLER DISEASE, TYPE I

Clinical Synopsis for 609242 KANZAKI DISEASE

Clinical Synopsis for 609284 NEMALINE MYOPATHY 1; NEM1

Changed Entries:

103030 ADENYLATE KINASE 3-LIKE 1; AK3L1

109135 AXL RECEPTOR TYROSINE KINASE; AXL

120360 MATRIX METALLOPROTEINASE 2; MMP2

133430 ESTROGEN RECEPTOR 1; ESR1

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

139250 GROWTH HORMONE 1; GH1

155541 MELANOCORTIN 4 RECEPTOR; MC4R

161650 NEBULIN; NEB

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

164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS

176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2

186591 SYNTAXIN 4A; STX4A

256030 NEMALINE MYOPATHY 2; NEM2

257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1

300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3

600341 TYRO3 PROTEIN TYROSINE KINASE; TYRO3

600441 GROWTH ARREST-SPECIFIC 6; GAS6

600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

600946 GROWTH HORMONE RECEPTOR; GHR

602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,

603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A

604283 PROTEOGLYCAN 4; PRG4

604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK

605117 SUPPRESSOR OF CYTOKINE SIGNALING 2

608339 SYNTAXIN-BINDING PROTEIN 3; STXBP3

609290 ADENYLATE KINASE 3; AK3

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

Clinical Synopsis for 256030 NEMALINE MYOPATHY 2; NEM2

April 8, 2005

New Entries:

609306 SPINOCEREBELLAR ATAXIA 26; SCA26

Changed Entries:

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

161800 NEMALINE MYOPATHY 3; NEM3

167040 OXYSTEROL-BINDING PROTEIN; OSBP

190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

191710 URIDINE MONOPHOSPHATE KINASE; UMPK

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

250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

306700 HEMOPHILIA A

601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

602081 SPEECH-LANGUAGE DISORDER 1; SPCH1

602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2

603174 HOMOCYSTEINEMIA

604867 TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16

605317 FORKHEAD BOX P2; FOXP2

605489 CARNITINE DEFICIENCY-ASSOCIATED GENE EXPRESSED IN VENTRICLE 1; CDV1

607066 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 3;

609115 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G

609302 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER

609303 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER

609304 MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN

Clinical Synopsis for 191710 URIDINE MONOPHOSPHATE KINASE; UMPK

April 7, 2005

New Entries:

609273 NEMALINE MYOPATHY 6; NEM6

609284 NEMALINE MYOPATHY 1; NEM1

609285 NEMALINE MYOPATHY 4; NEM4

609302 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER

609303 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER

609304 MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN

609305 LATEXIN; LXN

Changed Entries:

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME

155720 MELANOMA, UVEAL

160777 MYOSIN VA; MYO5A

161650 NEBULIN; NEB

161800 NEMALINE MYOPATHY 3; NEM3

190990 TROPOMYOSIN 2; TPM2

191030 TROPOMYOSIN 3; TPM3

191041 TROPONIN T1, SKELETAL, SLOW; TNNT1

209900 BARDET-BIEDL SYNDROME; BBS

245800 LAURENCE-MOON SYNDROME

256030 NEMALINE MYOPATHY 2; NEM2

271322 SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM

600089 PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS

600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA

600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3

600964 REFSUM DISEASE WITH INCREASED PIPECOLIC ACIDEMIA; RDPA

601397 T BRACHYURY, MOUSE, HOMOLOG OF; T

602694 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4; NDUFS4

602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,

604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1

604488 TITIN-CAP; TCAP

605355 NEMALINE MYOPATHY 5; NEM5

606054 PROPIONIC ACIDEMIA

606904 EPILEPSY, JUVENILE MYOCLONIC; JME

607036 ISOVALERYL-CoA DEHYDROGENASE; IVD

607108 PAIRED BOX GENE 6; PAX6

607635 CARBOXYPEPTIDASE A4; CPA4

607696 USH1G GENE; USH1G

607872 MONOSOMY 1p36 SYNDROME

608053 ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA

608801 GLUTARYL-CoA DEHYDROGENASE; GCDH

609285 NEMALINE MYOPATHY 4; NEM4

609292 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 2; SPRED2

609302 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER

609303 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER

609304 MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN

April 6, 2005

New Entries:

300534 MENTAL RETARDATION, X-LINKED, JARID1C-RELATED

609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET

609296 B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS

609299 PROSTATE CANCER, HEREDITARY, 3

609301 p53 EFFECTOR RELATED TO PMP22; PERP

Changed Entries:

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE

130410 ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE; ETFB

131195 ENDOGLIN; ENG

138320 GLUTATHIONE PEROXIDASE; GPX1

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6

202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

203750 ALPHA-METHYLACETOACETICACIDURIA

212350 CATARACT AND CARDIOMYOPATHY

214100 ZELLWEGER SYNDROME; ZS

220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

220120 D-GLYCERIC ACIDEMIA

231670 GLUTARIC ACIDEMIA I

231675 ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH

231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD

231950 GLUTATHIONURIA

232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA

232050 PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB

232200 GLYCOGEN STORAGE DISEASE I

232240 GLYCOGEN STORAGE DISEASE Ic

236792 L-2-HYDROXYGLUTARIC ACIDURIA

236795 3-@HYDROXYISOBUTYRICACIDURIA

239400 HYPERPIPECOLATEMIA

243500 ISOVALERIC ACIDEMIA; IVA

245050 3-@OXOACID CoA TRANSFERASE; OXCT

246450 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY

250620 METHACRYLIC ACIDURIA;;

251000 METHYLMALONICACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM

252010 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

252150 MOLYBDENUM COFACTOR DEFICIENCY

253260 BIOTINIDASE DEFICIENCY

256000 LEIGH SYNDROME; LS

263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

266150 PYRUVATE CARBOXYLASE DEFICIENCY

271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

275190 TIGLIC ACIDEMIA

276600 TYROSINE TRANSAMINASE DEFICIENCY

276903 MYOSIN VIIA; MYO7A

300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1; SMC1L1

300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16

302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

306000 GLYCOGEN STORAGE DISEASE VIII

306995 HOMOSEXUALITY 1; HMS1

309600 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

309640 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA

314690 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C

426000 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D

516020 CYTOCHROME b OF COMPLEX III; MTCYB

516050 CYTOCHROME c OXIDASE III; MTCO3

516060 ATP SYNTHASE 6; MTATP6

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600335 SUCCINIC ACIDEMIA

600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601410 DIABETES MELLITUS, TRANSIENT NEONATAL

602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1

602606 COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT

602646 G PROTEIN-COUPLED RECEPTOR 35; GPR35

602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7

603550 EYES ABSENT 4; EYA4

603903 SICKLE CELL ANEMIA

605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J

605514 PROTOCADHERIN 15; PCDH15

606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7

606418 24-@DEHYDROCHOLESTEROL REDUCTASE; DHCR24

606424 EGL9, C. ELEGANS, HOMOLOG OF, 2; EGLN2

606426 EGL9, C. ELEGANS, HOMOLOG OF, 3; EGLN3

606503 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 2

606591 MUS81, YEAST, HOMOLOG OF

606614 RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 2; RASGRF2

606633 TRANSCRIPTION FACTOR Sp7; SP7

606654 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 7

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

606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3

607108 PAIRED BOX GENE 6; PAX6

607150 FIFTH EWING SARCOMA VARIANT

607342 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN

607520 ZYGOTE ARREST 1; ZAR1

607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

607633 XANTHINE DEHYDROGENASE; XDH

607787 INTIMAL THICKNESS-RELATED RECEPTOR

608003 HOMEODOMAIN-INTERACTING PROTEIN KINASE 1

608046 HRD1, S. CEREVISIAE, HOMOLOG OF

608057 DNASE2-LIKE ACID DNase

608073 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 2; NPM2

608228 NANOS, DROSOPHILA, HOMOLOG OF, 2

608229 NANOS, DROSOPHILA, HOMOLOG OF, 3

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

608538 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5B; ARID5B

608597 NEURALIZED-LIKE 2; NEURL2

608606 BASIC HELIX-LOOP-HELIX PROTEIN MIST1

608788 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7

608797 MEI1, MOUSE, HOMOLOG OF

608863 T1-ALPHA GENE

608965 CALCIUM-BINDING PROTEIN 4; CABP4

609066 AJUBA, MOUSE, HOMOLOG OF; JUB

609124 ZINC FINGER PROTEIN 385; ZNF385

609125 MOTILE SPERM DOMAIN-CONTAINING PROTEIN 3; MOSPD3

609296 B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS

609299 PROSTATE CANCER, HEREDITARY, 3

Clinical Synopsis for 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

April 5, 2005

New Entries:

Clinical Synopsis for 609192 LOEYS-DIETZ AORTIC ANEURYSM SYNDROME; LDAS

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML

104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA

114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET

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

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

126452 DOPAMINE RECEPTOR D4; DRD4

126453 DOPAMINE RECEPTOR D5; DRD5

128235 DYSTONIA 12; DYT12

137290 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; TACSTD2

137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1

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

142445 NEUREGULIN 1; NRG1

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

155541 MELANOCORTIN 4 RECEPTOR; MC4R

181500 SCHIZOPHRENIA; SCZD

182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A

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

188580 THYROTOXIC PERIODIC PARALYSIS

191060 TRYPTOPHAN HYDROXYLASE; TPH

191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8

191350 DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1

192968 INTEGRIN, ALPHA-1; ITGA1

201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF

204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE

211100 FUCOSYLTRANSFERASE 1; FUT1

213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1

217800 MACULAR DYSTROPHY, CORNEAL, 1; MCDC1

252650 MUCOLIPIDOSIS IV

252800 ALPHA-L-IDURONIDASE; IDUA

259730 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

261640 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS

276901 USHER SYNDROME, TYPE IIA; USH2A

276902 USHER SYNDROME, TYPE III; USH3

277900 WILSON DISEASE

300118 GTPase-ACTIVATING PROTEIN, RHO, 6; ARHGAP6

300137 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 1; IGSF1

300254 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1

309640 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA 1

311030 MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE; MCF2

313430 SRY-BOX 3; SOX3

600022 PROSTAGLANDIN I2 RECEPTOR; PTGIR

600040 BCL2-ASSOCIATED X PROTEIN; BAX

600075 TATA BOX-BINDING PROTEIN; TBP

600076 TENSIN; TNS

600108 MATRIX METALLOPROTEINASE 13; MMP13

600119 SARCOGLYCAN, ALPHA; SGCA

600170 AQUAPORIN 3; AQP3

600197 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN

600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3

600308 AQUAPORIN 4; AQP4

600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1

600374 BBS4 GENE; BBS4

600389 MEPRIN, BETA SUBUNIT; MEP1B

600408 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 1; DDR1

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

600539 PROTEIN KINASE C, IOTA FORM; PRKCI

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

600582 ASPARTATE BETA-HYDROXYLASE; ASPH

600615 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7; LGALS7

600620 FK506-BINDING PROTEIN 1B; FKBP1B

600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A

600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C

600725 SONIC HEDGEHOG; SHH

600729 NUCLEAR FACTOR I/C; NFIC

600842 GLUCOKINASE REGULATORY PROTEIN; GCKR

600850 SCHIZOPHRENIA 4; SCZD4

600853 N-DEACETYLASE/N-SULFOTRANSFERASE 1; NDST1

600927 CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D

600935 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8

601007 LEPTIN RECEPTOR; LEPR

601013 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT; CACNA1E

601017 SYNTROPHIN, ALPHA-1; SNTA1

601047 CAVEOLIN 1; CAV1

601093 FORKHEAD BOX I1; FOXI1

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

601143 DYNACTIN 1; DCTN1

601199 CALCIUM-SENSING RECEPTOR; CASR

601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG

601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2

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

601311 STEROL O-ACYLTRANSFERASE 2; SOAT2

601326 CLAUDIN 11; CLDN11

601365 DISHEVELLED 1; DVL1

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601411 SARCOGLYCAN, DELTA; SGCD

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

601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1

601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601533 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 2; ADAM2

601535 EPHRIN A5; EFNA5

601611 SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 2; SLC14A2

601665 OBESITY

601724 NEUROGENIC DIFFERENTIATION 1; NEUROD1

601783 MICROTUBULE-ASSOCIATED PROTEIN 6; MAP6

601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8

601790 PANCREATIC POLYPEPTIDE RECEPTOR 1; PPYR1

601858 CALMEGIN; CLGN

601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1

601929 ATPase, Ca(2+)-TRANSPORTING, UBIQUITOUS; ATP2A3

601956 GDNF FAMILY RECEPTOR ALPHA-2; GFRA2

601965 ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3

601974 ENDOTHELIAL DIFFERENTIATION GENE 1; EDG1

602020 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN

602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB

602061 EPIREGULIN; EREG

602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;

602188 EPHRIN RECEPTOR EphA4; EPHA4

602190 EPHRIN RECEPTOR EphA7; EPHA7

602193 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC29A1

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

602212 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1

602213 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 2; SIAH2

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602219 SAL-LIKE 2; SALL2

602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2

602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8

602315 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 3; MAP2K3

602369 CYSTEINE-RICH, ANGIOGENIC INDUCER, 61; CYR61

602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3

602516 REGULATOR OF G PROTEIN SIGNALING 4; RGS4

602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

602713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9

602714 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 12; ADAM12

602716 NEPHRIN; NPHS1

602724 PEANUT-LIKE 1; PNUTL1

602861 PLAKOPHILIN 2; PKP2

602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9

602903 KRUPPEL-LIKE FACTOR 5; KLF5

602917 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1

602943 RAR-RELATED ORPHAN RECEPTOR C; RORC

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603013 SCHIZOPHRENIA 6; SCZD6

603023 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1

603149 INTERLEUKIN 17; IL17

603167 BCL2 ANTAGONIST OF CELL DEATH; BAD

603176 SCHIZOPHRENIA 7; SCZD7

603177 VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8

603244 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 1; HS3ST1

603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603368 CYCLIN-DEPENDENT KINASE 6; CDK6

603582 TOPOISOMERASE, DNA, III, BETA; TOP3B

603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1

603621 FORKHEAD BOX H1; FOXH1

603718 CLAUDIN 1; CLDN1

603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB

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

603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4

603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13

603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2

604018 NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL

604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1

604176 SUPPRESSOR OF CYTOKINE SIGNALING 3

604263 PRION GENE COMPLEX, DOWNSTREAM; PRND

604558 INDUCIBLE COSTIMULATOR; ICOS

604675 PAIRED-RELATED HOMEOBOX GENE 2; PRRX2

604766 PODOCIN; NPHS2

604900 DIACYLGLYCEROL O-ACYLTRANSFERASE 1; DGAT1

604906 SCHIZOPHRENIA 9; SCZD9

604990 SOLUTE CARRIER FAMILY 9, ISOFORM A3, REGULATORY FACTOR 1; SLC9A3R1

605126 ACTIVATOR OF CREM IN TESTIS

605147 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 1; LECT1

605165 ZINC FINGER PROTEIN 278; ZNF278

605208 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER

605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1

605213 3-@PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1

605248 MUCOLIPIN 1; MCOLN1

605263 SHC TRANSFORMING PROTEIN 3; SHC3

605294 CARBOHYDRATE SULFOTRANSFERASE 6; CHST6

605314 HISTONE DEACETYLASE 4; HDAC4

605335 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 1; PHLDA1

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

605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC

605548 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 15; ADAM15

605565 RESISTIN; RETN

605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA

605725 PERIAXIN; PRX

606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1

606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2

606397 USH3A GENE; USH3A

606656 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2

606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS

607136 SPINOCEREBELLAR ATAXIA 17; SCA17

607364 BARTTER SYNDROME, TYPE 3

607408 G72 GENE

607415 G30 GENE

607641 LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE

608516 MAJOR DEPRESSIVE DISORDER; MDD

608634 NEUROPATHY, DISTAL HEREDITARY MOTOR, HSPB1 TYPE

609058 METHYLMALONYL-CoA MUTASE; MUT

609192 LOEYS-DIETZ AORTIC ANEURYSM SYNDROME; LDAS

609245 G PROTEIN SIGNALING MODULATOR 2; GPSM2

Clinical Synopsis for 104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA

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

April 1, 2005

New Entries:

609241 SCHINDLER DISEASE, TYPE I

609242 KANZAKI DISEASE

609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1

609292 SPROUTY-RELATED EVH1-DOMAIN CONTAINING PROTEIN 2; SPRED2

609293 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 3; SPRED3

609294 SEMAPHORIN 6C; SEMA6C

609295 SEMAPHORIN 6D; SEMA6D

609297 SEMAPHORIN 5A; SEMA5A

609298 SEMAPHORIN 5B; SEMA5B

Changed Entries:

104155 ALPHA-FETOPROTEIN ENHANCER-BINDING PROTEIN

104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

134797 FIBRILLIN 1; FBN1

137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1

142750 H4 HISTONE FAMILY, MEMBER N; H4FN

145750 HYPERTRIGLYCERIDEMIA, FAMILIAL

150310 LAMININ, BETA-3; LAMB3

154700 MARFAN SYNDROME; MFS

169600 BENIGN CHRONIC PEMPHIGUS; BCPM

172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA

176807 PROSTATE CANCER

180200 RETINOBLASTOMA; RB1

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

226700 EPIDERMOLYSIS BULLOSA LETALIS

231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD

239100 HYPEROSTOSIS CORTICALIS GENERALISATA

251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1

262500 PITUITARY DWARFISM II

300292 FORKHEAD BOX P3; FOXP3

301500 FABRY DISEASE

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

313700 ANDROGEN RECEPTOR; AR

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600946 GROWTH HORMONE RECEPTOR; GHR

601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST

601652 MYOCILIN; MYOC

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

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

602044 UNCOUPLING PROTEIN 3; UCP3

603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH

603937 RETINITIS PIGMENTOSA 1 GENE; RP1

604261 APG5-LIKE; APG5L

604804 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3

605209 CHECKPOINT PROTEIN WITH FHA AND RING FINGER DOMAINS; CHFR

605747 ARH GENE; ARH

607903 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; HTL1

608201 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2

608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6

609279 CENTROMERIC PROTEIN J; CENPJ

609289 SYNCOPE, FAMILIAL NEUROCARDIOGENIC

609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1

609292 SPROUTY-RELATED EVH1-DOMAIN CONTAINING PROTEIN 2; SPRED2