PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for July, 2004

July 30, 2004

New Entries:

608823 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 1; CGB1

608824 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 2; CGB2

608825 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 5; CGB5

608826 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 7; CGB7

608827 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 8; CGB8

Changed Entries:

118860 CHORIONIC GONADOTROPIN, BETA CHAIN; CGB

152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB

180200 RETINOBLASTOMA; RB1

181000 SARCOIDOSIS

214450 GRISCELLI SYNDROME, TYPE 1; GS1

300180 ARYLSULFATASE E; ARSE

302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

607624 GRISCELLI SYNDROME, TYPE 2; GS2

608825 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 5; CGB5

July 29, 2004

New Entries:

608817 NETRIN-G1 LIGAND

608818 NETRIN G1; NTNG1

608819 KERATIN-ASSOCIATED PROTEIN 1-1; KRTAP1-1

608820 KERATIN-ASSOCIATED PROTEIN 1-3; KRTAP1-3

608821 KERATIN-ASSOCIATED PROTEIN 1-4; KRTAP1-4

608822 KERATIN-ASSOCIATED PROTEIN 1-5; KRTAP1-5

Changed Entries:

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A

128990 EARLY GROWTH RESPONSE 1; EGR1

139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

162010 NERVE GROWTH FACTOR RECEPTOR; NGFR

162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB

163905 HIGH MOBILITY GROUP BOX 1; HMGB1

173393 PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR

178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD

180860 SILVER-RUSSELL SYNDROME; SRS

191092 TSC2 GENE; TSC2

236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1

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

300257 GLYCOGEN STORAGE DISEASE IIb

313700 ANDROGEN RECEPTOR; AR

600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS

600421 GLYCINE RECEPTOR, ALPHA-3 SUBUNIT; GLRA3

600639 CASPASE 2, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP2

602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB

603454 CASP2 AND RIPK1 DOMAIN-CONTAINING ADAPTOR WITH DEATH DOMAIN; CRADD

604475 RETICULON 4; RTN4

604925 RAB ACCEPTOR 1; RABAC1

605247 p53-INDUCED PROTEIN WITH DEATH DOMAIN; PIDD

605284 TSC1 GENE; TSC1

607994 STRAND EXCHANGE PROTEIN 1

608179 CAYTAXIN

608817 NETRIN-G1 LIGAND

608820 KERATIN-ASSOCIATED PROTEIN 1-3; KRTAP1-3

July 28, 2004

New Entries:

608774 ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1; ANKK1

608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J

608815 EF HAND DOMAIN (C-TERMINAL)-CONTAINING 1; EFHC1

608816 MYOCLONIC EPILEPSY, JUVENILE, 3

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

109150 MACHADO-JOSEPH DISEASE; MJD

126450 DOPAMINE RECEPTOR D2; DRD2

139400 HAIR WHORL

142409 HEPATOCYTE GROWTH FACTOR; HGF

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

155720 MELANOMA, UVEAL

162200 NEUROFIBROMATOSIS, TYPE I; NF1

170993 PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3

180020 RETINAL CONE DYSTROPHY 1; RCD1

182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

188400 DIGEORGE SYNDROME; DGS

188840 TITIN; TTN

190900 TRITANOPIA

191306 KINASE INSERT DOMAIN RECEPTOR; KDR

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

203285 ALBINISM WITH IMMUNE AND HEMATOLOGIC DEFECTS

211180 BOWEN-CONRADI SYNDROME

214100 ZELLWEGER SYNDROME; ZS

254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1

300035 EPHRIN B1; EFNB1

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

301950 BRANCHIAL ARCH SYNDROME, X-LINKED

304110 CRANIOFRONTONASAL SYNDROME; CFNS

600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE

600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2

601791 PEROXISOME BIOGENESIS FACTOR 14; PEX14

603409 FRIZZLED, DROSOPHILA, HOMOLOG OF, 6; FZD6

604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G

604228 PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME

604277 SPG4 GENE; SPG4

606904 EPILEPSY, JUVENILE MYOCLONIC; JME

607047 MJD GENE; MJD

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

608815 EF HAND DOMAIN (C-TERMINAL)-CONTAINING 1; EFHC1

July 27, 2004

New Entries:

608796 MOYAMOYA DISEASE 3

608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9

608814 LATERAL SEMICIRCULAR CANAL MALFORMATION, FAMILIAL, WITH EXTERNAL AND

Changed Entries:

114207 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-1 SUBUNIT; CACNB1

133430 ESTROGEN RECEPTOR 1; ESR1

142945 HOLOPROSENCEPHALY 3; HPE3

147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI

147570 INTERFERON, GAMMA; IFNG

162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE

162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1

182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM

184429 SRY-BOX 2; SOX2

187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;

252350 MOYAMOYA DISEASE 1; MYMY1

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

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

300488 MENOPAUSE, NATURAL, AGE AT

600081 25-@HYDROXVITAMIN D3 DEFICIENCY

600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1

600725 SONIC HEDGEHOG; SHH

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

601173 MOVED TO 253600

601274 LEUKOTRIENE B4 12-HYDROXYDEHYDROGENASE

601437 Fc FRAGMENT OF IgG, RECEPTOR TRANSPORTER, ALPHA; FCGRT

601599 SARCOSPAN; SSPN

601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4

601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G

601958 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-3 SUBUNIT; CACNB3

603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

603951 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY

605583 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25

606596 FUKUTIN-RELATED PROTEIN; FKRP

606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT

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

608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D

608578 CEREBROFRONTOFACIAL SYNDROME

608713 CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1

July 26, 2004

Changed Entries:

102775 ADENOSINE A1 RECEPTOR; ADORA1

109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1

126375 DNA METHYLTRANSFERASE 1; DNMT1

151690 ANNEXIN A1; ANXA1

164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1

301770 ARRESTIN 3, RETINAL; ARR3

600018 OPIOID RECEPTOR, MU-1; OPRM1

600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2

600533 VANG-LIKE 2; VANGL2

601890 PROTEIN-TYROSINE KINASE PTK7; PTK7

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

602443 X-PROLYL AMINOPEPTIDASE 1; XPNPEP1

602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1

602769 DNA METHYLTRANSFERASE 3A; DNMT3A

602900 DNA METHYLTRANSFERASE 3B; DNMT3B

603325 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9B; PPP1R9B

603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB

604018 NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL

604610 RECQ PROTEIN-LIKE 3; RECQL3

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

606591 MUS81, YEAST, HOMOLOG OF

607127 ELKS GENE

607280 CONTACTIN 4; CNTN4

607557 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER

608004 INTERLEUKIN 1-INDUCED NUCLEAR ANKYRIN REPEAT PROTEIN

Clinical Synopsis for 256000 LEIGH SYNDROME; LS

July 23, 2004

New Entries:

608806 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 2

608810 ALPHA-B CRYSTALLINOPATHY

608813 DEGRADATION IN ENDOPLASMIC RETICULUM 1

Changed Entries:

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

122470 CORNELIA DE LANGE SYNDROME; CDLS

123590 CRYSTALLIN, ALPHA-B; CRYAB

125660 DESMIN; DES

130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM

146110 HYPOGONADOTROPIC HYPOGONADISM

156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE

174763 POLYMERASE, DNA, GAMMA; POLG

179060 PYRUVATE DEHYDROGENASE, BETA POLYPEPTIDE; PDHB

190685 DOWN SYNDROME

216550 COHEN SYNDROME; COH1

253850 MOVED TO 602771

264450 MOVED TO 190685

312170 PYRUVATE DECARBOXYLASE DEFICIENCY

600934 FOLATE HYDROLASE 1; FOLH1

600970 MYOSIN VI; MYO6

601023 VALOSIN-CONTAINING PROTEIN; VCP

601419 DESMINOPATHY, PRIMARY

602640 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 1; NAALADL1

602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

604327 XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE, POLYPEPTIDE 7; B4GALT7

605104 ATAXIN 2-BINDING PROTEIN 1

606210 SELENOPROTEIN N, 1; SEPN1

607817 COH1 GENE; COH1

607918 SELENOPROTEIN S

608137 NASAL EMBRYONIC LHRH FACTOR; NELF

608810 ALPHA-B CRYSTALLINOPATHY

608813 DEGRADATION IN ENDOPLASMIC RETICULUM 1

July 22, 2004

New Entries:

608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

608801 GLUTARYL-CoA DEHYDROGENASE; GCDH

608811 METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH

Changed Entries:

147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1

185620 SURFEIT 1; SURF1

231670 GLUTARICACIDEMIA I

231680 MULTIPLE ACYL-CoA DEHYDROGENATION DEFICIENCY; MADD

231690 GLUTARYL-CoA OXIDASE DEFICIENCY

256000 LEIGH SYNDROME; LS

264700 PSEUDOVITAMIN D DEFICIENCY RICKETS

600308 AQUAPORIN 4; AQP4

600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2

601501 MEM3, MOUSE, HOMOLOG OF

603503 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1

604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8

605951 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3

606831 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 12; CARD12

606838 PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD

608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE

608811 METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH

Clinical Synopsis for 601419 DESMIN-RELATED MYOPATHY

Clinical Synopsis for 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

July 21, 2004

New Entries:

608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT

608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY

608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED; DTGA

608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA;

Clinical Synopsis for 608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT

Changed Entries:

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

106410 ANKYRIN 2; ANK2

107941 ARRESTIN, BETA, 2; ARRB2

109636 BETA-ADRENERGIC RECEPTOR KINASE 2; ADRBK2

112600 BRACHYDACTYLY, TYPE A2; BDA2

114760 CARBONIC ANHYDRASE IV; CA4

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

120920 MEMBRANE COFACTOR PROTEIN; MCP

123740 CRYSTALLIN, MU; CRYM

126375 DNA METHYLTRANSFERASE 1; DNMT1

134770 FERRITIN HEAVY CHAIN 1; FTH1

140100 HAPTOGLOBIN; HP

147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI

147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1

147920 KABUKI SYNDROME

150600 LEGG-CALVE-PERTHES DISEASE

154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF

155555 MELANOCORTIN 1 RECEPTOR; MC1R

159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL

162010 NERVE GROWTH FACTOR RECEPTOR; NGFR

163970 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE),

172100 PHOSPHOGLUCOMUTASE 3; PGM3

176300 TRANSTHYRETIN; TTR

179520 RAS-RELATED PROTEIN 1A; RAP1A

185120 STRATTON-PARKER SYNDROME

188450 THYROGLOBULIN; TG

188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO

189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG; MYB

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

191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1

216550 COHEN SYNDROME; COH1

217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM

218040 COSTELLO SYNDROME

230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

230900 GAUCHER DISEASE, TYPE II

251450 DESBUQUOIS SYNDROME; DBQD

264700 PSEUDOVITAMIN D DEFICIENCY RICKETS

271550 SPONDYLOENCHONDRODYSPLASIA

276903 MYOSIN VIIA; MYO7A

277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1

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

300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1

300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5

300420 PRAJA 1; PJA1

300429 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9

300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1

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

303600 COFFIN-LOWRY SYNDROME; CLS

307800 HYPOPHOSPHATEMIA, X-LINKED

308700 KALLMANN SYNDROME 1; KAL1

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

312865 SHORT STATURE HOMEOBOX; SHOX

313700 ANDROGEN RECEPTOR; AR

600081 VITAMIN D 25-HYDROXYLATION, RICKETS DUE TO DEFECT IN

600147 MESENCHYME HOMEOBOX 1; MEOX1

600202 DYSLEXIA SUSCEPTIBILITY 2; DYX2

600279 PEROXISOMAL FARNESYLATED PROTEIN; PXF

600303 GUANINE NUCLEOTIDE-RELEASING FACTOR 2; GRF2

600397 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1;

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

600725 SONIC HEDGEHOG; SHH

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

600852 RETINITIS PIGMENTOSA 17; RP17

600919 CARDIAC ARRHYTHMIA SYNDROME DUE TO LOSS OF FUNCTION OF ANKYRIN-B

601317 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11

601335 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4

601498 PEROXISOME BIOGENESIS FACTOR 6; PEX6

601683 COENZYME Q7; COQ7

601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7

601789 PEROXISOME BIOGENESIS FACTOR 13; PEX13

602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1

602448 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5

602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1

602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2

602769 DNA METHYLTRANSFERASE 3A; DNMT3A

603164 PEROXISOME BIOGENESIS FACTOR 3; PEX3

603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B

603261 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B

603275 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, ALPHA; PIP5K1A

603360 PEROXISOME BIOGENESIS FACTOR 16; PEX16

603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1

603400 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3; WISP3

603620 PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1

603825 HYPERMETHYLATED IN CANCER 1; HIC1

604001 A-KINASE ANCHOR PROTEIN 9; AKAP9

604306 FAS APOPTOTIC INHIBITORY MOLECULE 2; FAIM2

604714 TESTIS-SPECIFIC PROTEIN-LIKE 1, Y-ENCODED; TSPYL1

605194 CRYPTIC PROTEIN

605993 PROTEIN PHOSPHATASE 2C, MAGNESIUM-DEPENDENT, CATALYTIC SUBUNIT; PPM2C

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

606463 GLUCOSIDASE, ACID BETA; GBA

606838 PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD

606847 TCOF1 GENE

607146 INTESTINE- AND KIDNEY-ENRICHED PDZ PROTEIN

607147 POLIOVIRUS RECEPTOR-LIKE 3

607157 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 11; SIGLEC11

607247 CHONDROLECTIN; CHODL

607265 EPSIN 4

607294 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2; TGIF2

607307 FILAMIN A-INTERACTING PROTEIN 1; FILIP1

607318 LYSYL OXIDASE-LIKE 4; LOXL4

607368 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 15; KCNK15

607469 N-ACYLSPHINGOSINE AMIDOHYDROLASE-LIKE PROTEIN; ASAHL

607472 MITOCHONDRIAL ESCAPE 1-LIKE 1; YME1L1

607477 G2- AND S-PHASE EXPRESSED GENE 1; GTSE1

607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A

607497 UDP-GLUCURONYLTRANSFERASE S

607524 RING FINGER PROTEIN 39; RNF39

607538 NUDE-LIKE PROTEIN

607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC

607547 RIBOSOMAL PROTEIN L39-LIKE; RPL39L

607558 SEC14-LIKE 2; SEC14L2

607560 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARHGEF2

607577 LYSOSOMAL APYRASE-LIKE PROTEIN 1; LYSAL1

607588 PEPTIDYL-PROLYL ISOMERASE-LIKE 2; PPIL2

607591 SERUM/GLUCOCORTICOID-REGULATED KINASE-LIKE PROTEIN; SGKL

607650 DEFENSIN, BETA, 118; DEFB118

607680 ZINC FINGER PROTEIN 363; ZNF363

607712 HYPERMETHYLATED IN CANCER 2; HIC2

607716 SYNAPTOTAGMIN 13; SYT13

607723 UNC84, C. ELEGANS, HOMOLOG OF, A; UNC84A

607757 CHIBBY; CBY

607817 COH1 GENE; COH1

607826 S-ADENOSYLHOMOCYSTEINE HYDROLASE-LIKE 1; AHCYL1

607849 RETINOL DEHYDROGENASE 11; RDH11

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

607875 SKELETAL MUSCLE- AND KIDNEY-ENRICHED INOSITOL PHOSPHATASE

607911 EPM2A-INTERACTING PROTEIN 1; EPM2AIP1

607951 TRANSLOKIN

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

607961 SEMAPHORIN 7A; SEMA7A

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

607982 SCY1-LIKE 1; SCYL1

607983 NTKL-BINDING PROTEIN 1

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

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

608005 SIL1, S. CEREVISIAE, HOMOLOG OF

608037 CHONDROITIN SULFATE GLUCURONYLTRANSFERASE

608081 SYNAPTOTAGMIN 15; SYT15

608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1

608713 CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1

608771 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 2; THRAP2

608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT

608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED; DTGA

July 16, 2004

New Entries:

608803 GAP JUNCTION PROTEIN, ALPHA 12; GJA12

608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE

Clinical Synopsis for 608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

157650 MOVED TO 500002

188450 THYROGLOBULIN; TG

192950 VERTICAL TALUS, CONGENITAL; CVT

208800 MOVED TO 312170

256000 LEIGH SYNDROME; LS

304040 GAP JUNCTION PROTEIN, BETA-1; GJB1

311601 PELIZAEUS-MERZBACHER-LIKE DISEASE; PMLD

590095 TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW

600374 BBS4 GENE; BBS4

607120 PHOSPHOLIPASE C, BETA-1; PLCB1

608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3

608358 MYOPATHY, MYOSIN STORAGE

608590 MOVED TO 608358

608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX

Clinical Synopsis for 157650 MOVED TO 500002

Clinical Synopsis for 208800 MOVED TO 312170

Clinical Synopsis for 603680 SCA8 GENE; SCA8

Clinical Synopsis for 608358 MYOPATHY, MYOSIN STORAGE

July 15, 2004

New Entries:

608802 L3MBT-LIKE; L3MBTL

Changed Entries:

106410 ANKYRIN 2; ANK2

126063 DIHYDROLIPOAMIDE S-SUCCINYLTRANSFERASE; DLST

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

142200 HEMOGLOBIN, GAMMA A; HBG1

179061 PYRUVATE DEHYDROGENASE, E1-ALPHA POLYPEPTIDE, TESTIS-SPECIFIC FORM;

182280 SMALL CELL CANCER OF THE LUNG

211980 LUNG CANCER

217990 CORPUS CALLOSUM, AGENESIS OF

256450 NESIDIOBLASTOSIS OF PANCREAS

300469 MELANOMA ANTIGEN, FAMILY C, 3; MAGEC3

300502 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1

308930 LEIGH SYNDROME, X-LINKED

311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600075 TATA BOX-BINDING PROTEIN; TBP

600184 CARNITINE ACETYLTRANSFERASE; CRAT

600919 CARDIAC ARRHYTHMIA SYNDROME DUE TO ANKYRIN-B DEFICIENCY

602524 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 1; PDK1

607425 GAP JUNCTION PROTEIN, CHI-1; GJC1

608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX

608771 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 2; THRAP2

July 14, 2004

New Entries:

300502 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1

608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX

608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Changed Entries:

145500 HYPERTENSION, ESSENTIAL

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

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

164210 HEMIFACIAL MICROSOMIA; HFM

194364 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; XRCC5

208800 MOVED TO 312170

245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

300499 FTSJ HOMOLOG 1; FTSJ1

300501 MENTAL RETARDATION, X-LINKED 44; MRX44

302060 BARTH SYNDROME; BTHS

312170 PYRUVATE DECARBOXYLASE DEFICIENCY

600618 ETS VARIANT GENE 6; ETV6

601019 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER

601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4

604289 RAD54, S. CEREVISIAE, HOMOLOG OF, B

July 13, 2004

New Entries:

608786 PYRUVATE CARBOXYLASE; PC

608795 PHOSPHOLIPASE C, DELTA-3; PLCD3

608797 MEI1, MOUSE, HOMOLOG OF

Changed Entries:

109150 MACHADO-JOSEPH DISEASE; MJD

109280 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 2; SLC4A2

134790 FERRITIN LIGHT CHAIN; FTL

137260 GASTRIN-RELEASING POLYPEPTIDE; GRP

139190 GROWTH HORMONE-RELEASING HORMONE; GHRH

139260 GUANINE DEAMINASE; GDA

167870 PANIC DISORDER

180300 RHEUMATOID ARTHRITIS; RA

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA

207720 APNEA, CENTRAL SLEEP

217080 CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA

245348 LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE

246900 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD

261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2

266150 PYRUVATE CARBOXYLASE DEFICIENCY

300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2

300189 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 3; DLG3

300194 AMME COMPLEX

305400 FACIOGENITAL DYSPLASIA

308840 L1 CELL ADHESION MOLECULE; L1CAM

314995 ZINC FINGER PROTEIN 41; ZNF41

600028 DISTAL-LESS HOMEOBOX 5; DLX5

600440 ENDONUCLEASE G, MITOCHONDRIAL; ENDOG

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

600886 HYPERFERRITINEMIA-CATARACT SYNDROME

602843 RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB

604238 SNAIL 1, DROSOPHILA, HOMOLOG OF; SNAI1

604613 T-BOX 18; TBX18

605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11

605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME

606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER

607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE

July 12, 2004

New Entries:

608791 ROD-DERIVED CONE VIABILITY FACTOR

608793 SPERM ANTIGEN HCMOGT1

608794 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 1; PITPNM1

Changed Entries:

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

120970 CONE-ROD DYSTROPHY 2; CORD2

147020 IMMUNOGLOBULIN MU; IGHM

151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1

179512 RAS-ASSOCIATED PROTEIN RAB5A; RAB5A

188450 THYROGLOBULIN; TG

188550 THYROID CARCINOMA, PAPILLARY

203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

211180 BOWEN-CONRADI SYNDROME

217080 CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA

601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8

602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2

603386 THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA

604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1

604638 ACTININ, ALPHA-4; ACTN4

605134 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, CYTOPLASMIC, 1; PITPNC1

605405 USP6 N-TERMINAL-LIKE; USP6NL

607130 REGULATORY ASSOCIATED PROTEIN OF MTOR

607478 TRYPTOPHAN HYDROXYLASE 2; TPH2

608117 PHOSPHODIESTERASE 4D-INTERACTING PROTEIN; PDE4DIP

July 9, 2004

New Entries:

608784 ZINC FINGER- AND DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8

608785 HTRA, E. COLI, HOMOLOG OF, 3

608787 OTOSCLEROSIS 5; OTSC5

608788 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7

608789 NCK-ASSOCIATED PROTEIN 5

608790 ADA2, YEAST, HOMOLOG OF, BETA

608792 GAIP C-TERMINUS-INTERACTING PROTEIN 3

Changed Entries:

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

181500 SCHIZOPHRENIA; SCZD

400010 DEAD/H BOX 3, Y-LINKED; DBY

590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI

600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1

600725 SONIC HEDGEHOG; SHH

600946 GROWTH HORMONE RECEPTOR; GHR

600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602115 FIBROBLAST GROWTH FACTOR 10; FGF10

602276 TRANSCRIPTIONAL ADAPTOR 2-LIKE; TADA2L

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

603554 OMENN SYNDROME

605378 AAAS GENE; AAAS

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

608784 ZINC FINGER- AND DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8

July 8, 2004

New Entries:

300503 MENTAL RETARDATION, X-LINKED 43; MRX43

300504 MENTAL RETARDATION, X-LINKED 52; MRX52

608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5

608781 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3

608783 SET AND MYND DOMAIN-CONTAINING PROTEIN 3; SMYD3

Changed Entries:

103780 ALCOHOLISM

126452 DOPAMINE RECEPTOR D4; DRD4

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

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

189972 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 1; GTF2H1

192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH

300504 MENTAL RETARDATION, X-LINKED 52; MRX52

400000 REMOVED FROM DATABASE

400003 DELETED IN AZOOSPERMIA; DAZ

400005 UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y

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

400013 VARIABLY CHARGED, Y CHROMOSOME, 2; VCY2

400016 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 1; CDY1

400019 PTPBL-RELATED PROTEIN ON Y; PRY

400026 DELETED IN AZOOSPERMIA 2; DAZ2

400027 DELETED IN AZOOSPERMIA 3; DAZ3

415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED

590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI

600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2

600511 SCHIZOPHRENIA 3; SCZD3

601675 TRICHOTHIODYSTROPHY; TTD

601750 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 3; GTF2H3

601760 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 4; GTF2H4

602659 MENAGE A TROIS 1; MNAT1

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1

608770 DIHYDROLIPOAMIDE S-ACETYLTRANSFERASE; DLAT

Clinical Synopsis for 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

July 7, 2004

New Entries:

400034 CHONDROITIN SULFATE PROTEOGLYCAN 4-LIKE, Y-LINKED; CSPG4LY

400035 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 2-LIKE, Y-LINKED; GOLGA2LY

400036 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 3; TTTY3

400037 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 4; TTTY4

400038 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 5; TTTY5

400039 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 6; TTTY6

400040 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 17; TTTY17

608778 KELCH-LIKE 10; KLHL10

608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2

134570 FACTOR XIII, A1 SUBUNIT; F13A1

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

142984 HOMEOBOX D10; HOXD10

192950 VERTICAL TALUS, CONGENITAL; CVT

194050 WILLIAMS-BEUREN SYNDROME; WBS

220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1

235400 HEMOLYTIC-UREMIC SYNDROME; HUS

300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),

300247 BONE MORPHOGENETIC PROTEIN 15; BMP15

600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2

604290 ACERULOPLASMINEMIA

604933 MutY, E. COLI, HOMOLOG OF; MUTYH

606877 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C

606978 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7; COG7

608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE

July 6, 2004

New Entries:

608777 PERIOSTIN; POSTN

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

117550 SOTOS SYNDROME

138750 GLYOXALASE I; GLO1

146930 INTERLEUKIN 8; IL8

147920 KABUKI SYNDROME

152430 LONGEVITY

163729 NITRIC OXIDE SYNTHASE 3; NOS3

168820 PARAOXONASE 1; PON1

173321 PROTEASE INHIBITOR 6; PI6

176640 PRION PROTEIN; PRNP

180300 RHEUMATOID ARTHRITIS; RA

182290 SMITH-MAGENIS SYNDROME; SMS

185250 MATRIX METALLOPROTEINASE 3; MMP3

211910 CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1

212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa

212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx

220500 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM

232400 GLYCOGEN STORAGE DISEASE III

266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

301950 BRANCHIAL ARCH SYNDROME, X-LINKED

308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD

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

314600 WILDERVANCK SYNDROME

600992 ANOPHTHALMIA AND ESOPHAGEAL ATRESIA

601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id

602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib

603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic

603218 HUNTINGTON DISEASE-LIKE 1; HDL1

603503 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1

603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix

604610 RECQ PROTEIN-LIKE 3; RECQL3

604824 KLOTHO; KL

604920 MOVED TO 603218

605204 TORSIN-A; DYT1

606056 GLUCOSIDASE I DEFICIENCY

606989 MYELOPEROXIDASE; MPO

607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId

607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig

607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii

608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih

608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik

608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il

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

July 2, 2004

New Entries:

300499 FTSJ HOMOLOG 1; FTSJ1

300501 MENTAL RETARDATION, X-LINKED 44; MRX44

608768 SPINOCEREBELLAR ATAXIA 8; SCA8

608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il

Changed Entries:

103950 ALPHA-2-MACROGLOBULIN; A2M

104300 ALZHEIMER DISEASE; AD

118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE

147620 INTERLEUKIN 6; IL6

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

177900 PSORIASIS SUSCEPTIBILITY

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

229300 FRIEDREICH ATAXIA 1; FRDA

277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED

300498 MENTAL RETARDATION, X-LINKED 45; MRX45

314250 DYSTONIA 3, TORSION, X-LINKED; DYT3

600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600415 TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA

601515 FIBROBLAST GROWTH FACTOR 14; FGF14

603210 JERKY, MOUSE, HOMOLOG OF; JRK

603680 SCA8 GENE; SCA8

604714 TESTIS-SPECIFIC PROTEIN-LIKE 1, Y-ENCODED; TSPYL1

605332 KELCH-LIKE 1; KLHL1

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

606829 FRDA GENE; FRDA

606941 DISRUPTED IN BIPOLAR DISORDER 1; DIBD1

606989 MYELOPEROXIDASE; MPO

608764 PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1

Clinical Synopsis for 608768 SPINOCEREBELLAR ATAXIA 8; SCA8

July 1, 2004

New Entries:

608762 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO 3; EIG3

608770 DIHYDROLIPOAMIDE S-ACETYLTRANSFERASE; DLAT

608771 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 2; THRAP2

608772 INVASION INHIBITORY PROTEIN, 45-KD

608773 TUBULIN POLYMERIZATION-PROMOTING PROTEIN

608775 COILED-COIL DOMAIN-CONTAINING PROTEIN 5; CCDC5

Changed Entries:

100800 ACHONDROPLASIA; ACH

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

109720 BILIARY CIRRHOSIS, PRIMARY; PBC

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

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

146000 HYPOCHONDROPLASIA; HCH

147920 KABUKI SYNDROME

164200 OCULODENTODIGITAL DYSPLASIA; ODDD

182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

203300 HERMANSKY-PUDLAK SYNDROME; HPS

210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II

211180 BOWEN HUTTERITE SYNDROME

214800 CHOANAL ATRESIA, POSTERIOR; PCA

225050 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY

250220 METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL

268800 SANDHOFF DISEASE

272800 TAY-SACHS DISEASE; TSD

300247 BONE MORPHOGENETIC PROTEIN 15; BMP15

311360 PREMATURE OVARIAN FAILURE, X-LINKED

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

600511 SCHIZOPHRENIA 3; SCZD3

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

601437 Fc FRAGMENT OF IgG, RECEPTOR TRANSPORTER, ALPHA; FCGRT

603474 RIBOSOMAL PROTEIN S19; RPS19

603808 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 1; THRAP1

603809 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 3; THRAP3

604062 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 5; THRAP5

605013 MICROHYDRANENCEPHALY; MHAC

606682 HPS4 GENE; HPS4

606869 HEXOSAMINIDASE A; HEXA

606970 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO 1; EIG1

606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO 2; EIG2

607000 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 4; THRAP4

607015 HURLER-SCHEIE SYNDROME

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

607151 MOYAMOYA DISEASE 2; MYMY2

608040 COILED-COIL DOMAIN-CONTAINING PROTEIN 2; CCDC2

608664 SECKEL SYNDROME 3; SCKL3

608762 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO 3; EIG3