PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for August, 2004

August 31, 2004

New Entries:

608885 CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES,

608887 PURINE-RICH ELEMENT-BINDING PROTEIN B; PURB

608888 DEVELOPMENTALLY REGULATED RNA-BINDING PROTEIN 1

608889 AMINOCARBOXYMUCONATE SEMIALDEHYDE DECARBOXYLASE; ACMSD

608890 WAARDENBURG SYNDROME, TYPE IID

608891 ODD-SKIPPED, DROSOPHILA, HOMOLOG OF; ODD

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2

133090 ERYTHROCYTE SURFACE PROTEIN BAND 7.2; EPB72

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

172405 PHOSPHOLAMBAN; PLN

185000 STOMATOCYTOSIS I

193500 WAARDENBURG SYNDROME, TYPE I; WS1

193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A

300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5

305371 GATA-BINDING PROTEIN 1; GATA1

600193 WAARDENBURG SYNDROME, TYPE IIB; WS2B

600673 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I); UBTF

600894 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3

602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2

602203 SARCOLIPIN; SLN

602737 CHEMOKINE, CC MOTIF, LIGAND 21; CCL21

602902 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 1; BTEB1

604274 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; KLRA1

604283 PROTEOGLYCAN 4; PRG4

604633 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2

605725 PERIAXIN

605854 BCL2-BINDING COMPONENT 3; BBC3

606662 WAARDENBURG SYNDROME, TYPE IIC

607839 GLYCOGEN BRANCHING ENZYME; GBE1

608374 HEMOJUVELIN

608754 LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5

608756 SEN15, YEAST, HOMOLOG OF

608829 SMALL UBIQUITIN-LIKE MODIFIER 4; SUMO4

Mini-MIM for 193500 WAARDENBURG SYNDROME, TYPE I; WS1

Clinical Synopsis for 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

August 30, 2004

New Entries:

608880 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 16; ZFYVE16

608881 FLAVOPROTEIN OXIDOREDUCTASE MICAL2

608882 FLAVOPROTEIN OXIDOREDUCTASE MICAL3

608883 GALACTOSE MUTAROTASE; GALM

608884 GTPase-ACTIVATING RAP/RAN-GAP DOMAIN-LIKE 1; GARNL1

608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA;

Changed Entries:

102775 ADENOSINE A1 RECEPTOR; ADORA1

116953 CYCLIN-DEPENDENT KINASE 2; CDK2

123829 CYCLIN-DEPENDENT KINASE 4; CDK4

147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A

185020 STOMATOCYTOSIS, COLD-SENSITIVE

254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1

300094 MOVED TO 600539

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

602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; MADH3

603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB

604018 NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL

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

604700 TARGET OF MYB1, CHICKEN, HOMOLOG OF; TOM1

606193 SOLUTE CARRIER FAMILY 13 (SODIUM/SULFATE SYMPORTER), MEMBER 1; SLC13A1

606412 BSND GENE

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

607926 HOST CELL FACTOR C2; HCFC2

608783 SET AND MYND DOMAIN-CONTAINING PROTEIN 3; SMYD3

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

608840 MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D

608846 CARNITINE PALMITOYLTRANSFERASE IC; CPT1C

608876 PCF11, YEAST, HOMOLOG OF

608880 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 16; ZFYVE16

608883 GALACTOSE MUTAROTASE; GALM

Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA 1

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

Clinical Synopsis for 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Clinical Synopsis for 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

Clinical Synopsis for 260565 PEHO SYNDROME

Clinical Synopsis for 604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1

Clinical Synopsis for 606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION

Clinical Synopsis for 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Clinical Synopsis for 608840 MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D

August 27, 2004

New Entries:

608877 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, D; VPS13D

608878 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

608879 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, C; VPS13C

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2

123840 PEPTIDYL-PROLYL ISOMERASE A; PPIA

125290 DELTA-AMINOLEVULINATE SYNTHASE; ALAS1

136533 FORKHEAD BOX O1A; FOXO1A

137215 GASTRIC CANCER

155735 MELANOMA ADHESION MOLECULE; MCAM

174900 POLYPOSIS, JUVENILE INTESTINAL

176982 PROTEIN KINASE C, ZETA FORM; PRKCZ

179835 REPLICATION PROTEIN A1, 70-KD; RPA1

179836 REPLICATION PROTEIN A2, 32-KD; RPA2

179837 REPLICATION PROTEIN A3, 14-KD; RPA3

192090 CADHERIN 1; CDH1

300094 MOVED TO 608877

600185 BREAST CANCER 2 GENE; BRCA2

600539 PROTEIN KINASE C, IOTA FORM; PRKCI

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; MADH4

601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A

601393 CHEMOKINE, CC MOTIF, LIGAND 15; CCL15

602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A

603334 DYNEIN, AXONEMAL, HEAVY CHAIN 3; DNAH3

603347 NEURONAL PAS DOMAIN PROTEIN 2; NPAS2

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

604111 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER

604146 SYNAPTOTAGMIN 7; SYT7

605098 MOVED TO 604146

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605284 TSC1 GENE; TSC1

605978 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A; VPS13A

607032 PI3-KINASE-RELATED KINASE SMG1

607379 NEUROFIBROMIN 2; NF2

607817 COH1 GENE; COH1

608487 TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5

608757 CLP1, YEAST, HOMOLOG OF

608875 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

608877 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, D; VPS13D

608879 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, C; VPS13C

Clinical Synopsis for 159900 MYOCLONIC DYSTONIA

Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA 1

Clinical Synopsis for 236670 WALKER-WARBURG SYNDROME

Clinical Synopsis for 600224 SPINOCEREBELLAR ATAXIA 5; SCA5

Clinical Synopsis for 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

August 26, 2004

New Entries:

608875 GENE EXPRESSION, VARIATION IN

608876 PCF11, YEAST, HOMOLOG OF

Clinical Synopsis for 606369 ENCEPHALOPATHY OF CHILDHOOD

Clinical Synopsis for 606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION

Clinical Synopsis for 608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA;

Changed Entries:

104300 ALZHEIMER DISEASE; AD

107720 APOLIPOPROTEIN C-III; APOC3

121250 MOVED TO 300088

154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

185620 SURFEIT 1; SURF1

229300 FRIEDREICH ATAXIA 1; FRDA

238300 GLYCINE DECARBOXYLASE; GLDC

271550 SPONDYLOENCHONDRODYSPLASIA

277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1

300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4

308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2

600757 OROFACIAL CLEFT 3; OFC3

601397 T BRACHYURY, MOUSE, HOMOLOG OF; T

601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7

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

602409 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 10; MLLT10

602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1

602943 RAR-RELATED ORPHAN RECEPTOR C; RORC

603475 CHORDIN; CHRD

603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE

603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10

603946 HELICASE, LYMPHOID-SPECIFIC; HELLS

604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1

605252 POLYMERASE, DNA, IOTA; POLI

605899 GLYCINE ENCEPHALOPATHY; GCE

606368 APOLIPOPROTEIN A-V; APOA5

606463 GLUCOSIDASE, ACID BETA; GBA

607060 PARKINSON DISEASE 8; PARK8

607808 NK2, DROSOPHILA, HOMOLOG OF, D; NKX2D

608757 CLP1, YEAST, HOMOLOG OF

Clinical Synopsis for 121250 MOVED TO 300088

Clinical Synopsis for 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Clinical Synopsis for 606364 SPINOCEREBELLAR ATAXIA 16; SCA16

August 25, 2004

New Entries:

608864 OROFACIAL CLEFT 6

608874 OROFACIAL CLEFT 5

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

100850 ACONITASE, MITOCHONDRIAL; ACO2

119530 OROFACIAL CLEFT 1; OFC1

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

124097 D SITE OF ALBUMIN PROMOTER-BINDING PROTEIN; DBP

133170 ERYTHROPOIETIN; EPO

142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

155601 MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2

160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2

191092 TSC2 GENE; TSC2

277000 VAGINA, ABSENCE OF

312600 RETINITIS PIGMENTOSA 2; RP2

312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1

600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2

600757 OROFACIAL CLEFT 3; OFC3

602069 NEUROPILIN 1; NRP1

602229 SRY-BOX 10; SOX10

602442 INTERSECTIN 1; ITSN1

602622 DEOXYRIBONUCLEASE I-LIKE 2; DNASE1L2

602716 NEPHRIN; NPHS1

602966 OROFACIAL CLEFT 2; OFC2

602971 TUBULIN-SPECIFIC CHAPERONE C; TBCC

603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4

604695 ADP-RIBOSYLATION FACTOR-LIKE 3; ARL3

605705 SNF1-LIKE KINASE; SNF1LK

605747 ARH GENE; ARH

606641 BODY MASS INDEX

606829 FRDA GENE; FRDA

607199 INTERFERON REGULATORY FACTOR 6; IRF6

607478 TRYPTOPHAN HYDROXYLASE 2; TPH2

607623 NPC1 GENE; NPC1

607894 POLYCYSTIN 1-LIKE 2

608371 OROFACIAL CLEFT 4

608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20, IN CHILDREN

608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA;

608864 OROFACIAL CLEFT 6

608870 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN

Clinical Synopsis for 193300 VON HIPPEL-LINDAU SYNDROME; VHL

Clinical Synopsis for 256000 LEIGH SYNDROME; LS

Clinical Synopsis for 600652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4

August 24, 2004

New Entries:

608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL

608863 T1-ALPHA GENE

608865 NPA1, YEAST, HOMOLOG OF

608866 FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), CANDIDATE GENE

608867 DUAL-SPECIFICITY PHOSPHATASE 10; DUSP10

608868 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN

608869 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN

608870 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN

608871 NIPSNAP, C. ELEGANS, HOMOLOG OF, 3A; NIPSNAP3A

608872 NIPSNAP, C. ELEGANS, HOMOLOG OF, 3B; NIPSNAP3B

608873 SEMAPHORIN 6B; SEMA6B

Clinical Synopsis for 608572 BURN-MCKEOWN SYNDROME

Clinical Synopsis for 608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA

Clinical Synopsis for 608840 MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D

Changed Entries:

103280 H19 GENE; H19

139320 GNAS COMPLEX LOCUS; GNAS

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

194539 ZINC FINGER PROTEIN 32; ZNF32

241200 BARTTER SYNDROME, ANTENATAL, TYPE 2

246900 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD

248600 MAPLE SYRUP URINE DISEASE

248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT

248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB

255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

300427 NEUROLIGIN 4; NLGN4

300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2

535000 LEBER OPTIC ATROPHY

600528 CARNITINE PALMITOYLTRANSFERASE I, LIVER; CPT1A

600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE

600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2

601678 BARTTER SYNDROME, ANTENATAL, TYPE 1

602074 DEATH-ASSOCIATED PROTEIN 3; DAP3

602081 SPEECH-LANGUAGE DISORDER 1; SPCH1

603249 NIPSNAP, C. ELEGANS, HOMOLOG OF, 1; NIPSNAP1

606369 ENCEPHALOPATHY OF CHILDHOOD

606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1

606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2

606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION

607134 SPECIFIC LANGUAGE IMPAIRMENT 3; SLI3

607175 DUAL-SPECIFICITY PHOSPHATASE 16; DUSP16

607364 BARTTER SYNDROME, TYPE 3

607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA

608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA

608572 BURN-MCKEOWN SYNDROME

608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA

Clinical Synopsis for 130650 BECKWITH-WIEDEMANN SYNDROME; BWS

Clinical Synopsis for 602081 SPEECH-LANGUAGE DISORDER 1; SPCH1

August 20, 2004

New Entries:

608859 CD109 ANTIGEN; CD109

608862 APOLIPOPROTEIN A-I-BINDING PROTEIN; APOA1BP

Clinical Synopsis for 607745 SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE

Clinical Synopsis for 608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2

114030 CAFE-AU-LAIT SPOTS, MULTIPLE

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

125597 DERMATOPONTIN; DPT

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

148100 KELOIDS

150699 LEIOMYOMA, UTERINE

162200 NEUROFIBROMATOSIS, TYPE I; NF1

164160 LEPTIN; LEP

233300 PREMATURE OVARIAN FAILURE, AUTOSOMAL RECESSIVE

234000 HAGEMAN FACTOR DEFICIENCY

243095 MOVED TO 270450

276901 USHER SYNDROME, TYPE IIA; USH2A

311360 PREMATURE OVARIAN FAILURE, X-LINKED

600342 G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR

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

602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7

605224 RHODOPSIN HOMOLOG, RETINAL PIGMENT EPITHELIUM-DERIVED; RRH

605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4

606052 MOVED TO 607745

606755 PEPTIDYLARGININE DEIMINASE III; PADI3

606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION

606991 INOSITOL HEXAPHOSPHATE KINASE 1; IHPK1

607117 MCPH1 GENE

607934 PEPTIDYLARGININE DEIMINASE, TYPE I; PADI1

608859 CD109 ANTIGEN; CD109

Clinical Synopsis for 121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1

Clinical Synopsis for 121201 EPILEPSY, BENIGN NEONATAL, 2; EBN2

Clinical Synopsis for 243095 MOVED TO 270450

Clinical Synopsis for 265850 PYGMY

Clinical Synopsis for 269720 EPILEPSY, BENIGN NEONATAL, AUTOSOMAL RECESSIVE

Clinical Synopsis for 270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO

Clinical Synopsis for 602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;

Clinical Synopsis for 602081 SPECIFIC LANGUAGE IMPAIRMENT; SLI

Clinical Synopsis for 604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1

Clinical Synopsis for 606052 MOVED TO 607745

August 19, 2004

New Entries:

608845 ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6

608855 TWEETY, DROSOPHILA, HOMOLOG OF, 2; TTYH2

608856 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 1; CTAGE1

608857 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 3; CTAGE3

608858 FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER 2; FGFR1OP2

608860 ASTACIN-LIKE METALLOENDOPEPTIDASE; ASTL

608861 ATPase, H+ TRANSPORTING, LYSOSOMAL, 50/57-KD, V1 SUBUNIT H; ATP6V1H

Clinical Synopsis for 104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD

Clinical Synopsis for 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES

Clinical Synopsis for 603218 HUNTINGTON DISEASE-LIKE 1; HDL1

Clinical Synopsis for 608505 CREE ENCEPHALITIS

Clinical Synopsis for 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

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

Clinical Synopsis for 608810 ALPHA-B CRYSTALLINOPATHY

Changed Entries:

104311 PRESENILIN 1; PSEN1

111200 BLOOD GROUP--LUTHERAN SYSTEM; LU

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

185100 STRABISMUS, SUSCEPTIBILITY TO

203800 ALSTROM SYNDROME; ALMS

209900 BARDET-BIEDL SYNDROME; BBS

209901 BBS1 GENE; BBS1

236700 MCKUSICK-KAUFMAN SYNDROME; MKKS

266150 PYRUVATE CARBOXYLASE DEFICIENCY

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

600151 BARDET-BIEDL SYNDROME 3; BBS3

600340 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 11; TM4SF11

600374 BBS4 GENE; BBS4

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

600732 ADP-RIBOSYLATION FACTOR 4-LIKE; ARF4L

601197 TUBBY, MOUSE, HOMOLOG OF; TUB

601444 GENERAL CONTROL OF AMINO ACID SYNTHESIS, YEAST, HOMOLOG-LIKE 1; GCN5L1

601665 OBESITY

603650 BBS5 GENE; BBS5

604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3

604787 ADP-RIBOSYLATION FACTOR-LIKE 7; ARL7

604875 MYOSIN IXA; MYO9A

604896 MKKS GENE; MKKS

605565 RESISTIN; RETN

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

605888 EH DOMAIN-CONTAINING 1; EHD1

606151 BBS2 GENE; BBS2

607590 BBS7 GENE; BBS7

607640 SCA7 GENE; SCA7

607994 EXORIBONUCLEASE 1; XRN1

608132 TETRATRICOPEPTIDE REPEAT DOMAIN 8; TTC8

608505 CREE ENCEPHALITIS

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

608855 TWEETY, DROSOPHILA, HOMOLOG OF, 2; TTYH2

Clinical Synopsis for 117100 CENTRALOPATHIC EPILEPSY

Clinical Synopsis for 149400 HYPEREXPLEXIA, HEREDITARY

Clinical Synopsis for 184850 STIFF-MAN SYNDROME

Clinical Synopsis for 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1

Clinical Synopsis for 248600 MAPLE SYRUP URINE DISEASE

Clinical Synopsis for 251290 PSEUDO-TORCH SYNDROME

Clinical Synopsis for 253280 MUSCLE-EYE-BRAIN DISEASE; MEB

Clinical Synopsis for 255110 MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II

Clinical Synopsis for 260565 PEHO SYNDROME

Clinical Synopsis for 266150 PYRUVATE CARBOXYLASE DEFICIENCY

Clinical Synopsis for 601846 VACUOLAR NEUROMYOPATHY

August 18, 2004

New Entries:

608849 KINASE-INTERACTING STATHMIN

608851 EXORIBONUCLEASE 2; XRN2

608852 PULMONARY FUNCTION

608853 BREAST CANCER CELL 2

608854 OXIDORED-NITRO DOMAIN-CONTAINING PROTEIN 1

Changed Entries:

113503 BRADYKININ RECEPTOR B2; BDKRB2

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

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

138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1

138492 GLYCINE RECEPTOR, BETA SUBUNIT; GLRB

148000 KAPOSI SARCOMA

148180 FIBROBLAST GROWTH FACTOR 7; FGF7

149400 HYPEREXPLEXIA, HEREDITARY

162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB

162660 NEUROTROPHIN 3; NTF3

180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

235200 HEMOCHROMATOSIS; HFE

266280 RAPADILINO SYNDROME

600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600337 BRADYKININ RECEPTOR B1; BDKRB1

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

602115 FIBROBLAST GROWTH FACTOR 10; FGF10

602448 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5

603780 RECQ PROTEIN-LIKE 4; RECQL4

604863 LECITHIN RETINOL ACYLTRANSFERASE; LRAT

605402 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1

605715 B7 HOMOLOG 3

605723 PROGRAMMED CELL DEATH 1 LIGAND 2; PDCD1LG2

605831 FIBROBLAST GROWTH FACTOR 22; FGF22

606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO

607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO

607994 EXORIBONUCLEASE 1; XRN1

608059 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 7; HES7

608160 SRY-BOX 9; SOX9

608841 COMPLEMENT COMPONENT 3- AND PREGNANCY ZONE PROTEIN-LIKE ALPHA-2-MACROGLOBULIN

608849 KINASE-INTERACTING STATHMIN

608854 OXIDORED-NITRO DOMAIN-CONTAINING PROTEIN 1

August 17, 2004

New Entries:

608843 VASORIN

608844 ENDONUCLEASE VIII-LIKE 1; NEIL1

608846 CARNITINE PALMITOYLTRANSFERASE IC; CPT1C;;

608847 FERRITIN, MITOCHONDRIAL; FTMT

608848 TRANSDUCER OF CDC42-DEPENDENT ACTIN ASSEMBLY 1

Changed Entries:

104311 PRESENILIN 1; PSEN1

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1

138492 GLYCINE RECEPTOR, BETA SUBUNIT; GLRB

149400 HYPEREXPLEXIA, HEREDITARY

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

159440 MYELIN PROTEIN ZERO; MPZ

162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB

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

172700 PICK DISEASE OF BRAIN

179060 PYRUVATE DEHYDROGENASE, BETA POLYPEPTIDE; PDHB

182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1

184850 STIFF-MAN SYNDROME

230800 GAUCHER DISEASE, TYPE I

255120 HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE

257200 NIEMANN-PICK DISEASE, TYPE A

600020 MAX-INTERACTING PROTEIN 1; MXI1

600221 TEK TYROSINE KINASE, ENDOTHELIAL; TEK

600743 TRANSCRIPTION FACTOR AP4; TFAP4

600744 T-CELL TRANSCRIPTION FACTOR EB; TFEB

601667 ANGIOPOIETIN 1; ANGPT1

602976 MAX-LIKE PROTEIN X; MLX

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14

606439 SPG3A GENE; SPG3A

607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I

608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5

608834 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 2; CREB3L2

608844 ENDONUCLEASE VIII-LIKE 1; NEIL1

608847 FERRITIN, MITOCHONDRIAL; FTMT

Clinical Synopsis for 127750 DEMENTIA, LEWY BODY; DLB

August 17, 2004

New Entries:

608841 COMPLEMENT COMPONENT 3- AND PREGNANCY ZONE PROTEIN-LIKE ALPHA-2-MACROGLOBULIN

608842 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 1; CHCHD1

Changed Entries:

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

176270 PRADER-WILLI SYNDROME; PWS

600197 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN

602751 BTB AND CNC HOMOLOGY 1; BACH1

603476 cAMP RESPONSE ELEMENT-BINDING PROTEIN-LIKE 2; CREBL2

604166 RIBOSOMAL PROTEIN L7; RPL7

605286 CALPAIN 10; CAPN10

605353 GHRELIN

605394 BTB AND CNC HOMOLOGY 2; BACH2

608834 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 2; CREB3L2

August 13, 2004

New Entries:

608834 cAMP RESPONSE-ELEMENT BINDING PROTEIN 3-LIKE 2; CREB3L2

608837 CARNEY COMPLEX VARIANT

608838 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1-LIKE 1; VKORC1L1

608839 CALPAIN 12; CAPN12

608840 MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D

Changed Entries:

119530 OROFACIAL CLEFT 1; OFC1

137070 FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA; FUS

158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

160741 MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL; MYH8

160980 CARNEY COMPLEX, TYPE 1; CNC1

174763 POLYMERASE, DNA, GAMMA; POLG

203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM

278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

601675 TRICHOTHIODYSTROPHY; TTD

603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE

603968 POLYMERASE, DNA, ETA; POLH

606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C

August 12, 2004

New Entries:

608835 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 13; ABCC13

Changed Entries:

123889 INTERLEUKIN 10 RECEPTOR, BETA; IL10RB

146933 INTERLEUKIN 10 RECEPTOR, ALPHA; IL10RA

604282 PLEXIN D1; PLXND1

605457 INTERLEUKIN 22 RECEPTOR, ALPHA-1; IL22RA1

605620 INTERLEUKIN 20 RECEPTOR, ALPHA; IL20RA

605621 INTERLEUKIN 20 RECEPTOR, BETA; IL20RB

605679 INTERLEUKIN 26; IL26

606648 INTERLEUKIN 22 RECEPTOR, ALPHA-2; IL22RA2

606807 SEF, ZEBRAFISH, HOMOLOG OF

August 11, 2004

Changed Entries:

119600 CLEIDOCRANIAL DYSPLASIA; CCD

126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD

134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6

139400 HAIR WHORL

139900 HAND SKILL, RELATIVE; HSR

145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1

146300 HYPOPHOSPHATASIA, ADULT TYPE

167420 PAIRED MESODERM HOMEOBOX 1; PMX1

219100 CUTIS LAXA

241500 HYPOPHOSPHATASIA, INFANTILE

260400 SHWACHMAN-DIAMOND SYNDROME; SDS

261600 PHENYLKETONURIA

313430 SRY-BOX 3; SOX3

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST

601199 CALCIUM-SENSING RECEPTOR; CASR

601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1

601548 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1

601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7

602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1

602548 OPIOID RECEPTOR-LIKE 1; OPRL1

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

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

604633 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2

605350 T-CELL CYTOKINE RECEPTOR

605670 LATE-ONSET RETINAL DEGENERATION; LORD

605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET

605816 EPSTEIN-BARR VIRUS-INDUCED GENE 3; EBI3

607444 SBDS GENE; SBDS

607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2

607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES

608232 LEUKEMIA, CHRONIC MYELOID; CML

608273 INTERLEUKIN 30; IL30

August 10, 2004

New Entries:

608831 RESTLESS LEGS SYNDROME 2

Clinical Synopsis for 607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE

Clinical Synopsis for 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2

Clinical Synopsis for 607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES

Clinical Synopsis for 608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT

Clinical Synopsis for 608118 ZINC IN BREAST MILK, REDUCED

Clinical Synopsis for 608189 TROPICAL CALCIFIC PANCREATITIS

Clinical Synopsis for 608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE

Clinical Synopsis for 608372 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 49; DFNA49

Clinical Synopsis for 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND

Clinical Synopsis for 608443 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 3

Clinical Synopsis for 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik

Clinical Synopsis for 608687 SPINOCEREBELLAR ATAXIA 20; SCA20

Clinical Synopsis for 608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

Changed Entries:

102300 RESTLESS LEGS SYNDROME 1

104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

123900 VILLIN 2; VIL2

131195 ENDOGLIN; ENG

137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141900 HEMOGLOBIN--BETA LOCUS; HBB

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2

162200 NEUROFIBROMATOSIS, TYPE I; NF1

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

182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2

253280 MUSCLE-EYE-BRAIN DISEASE; MEB

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

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

600726 INDIAN HEDGEHOG; IHH

601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY

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

602322 TELOMERASE RNA COMPONENT; TERC

603013 SCHIZOPHRENIA 6; SCZD6

603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF

604322 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER

605023 HYDROXYACID OXIDASE 1; HAO1

605176 HYDROXYACID OXIDASE 2; HAO2

606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1

606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

607667 CATENIN, ALPHA-3; CTNNA3

607676 IRAK4 DEFICIENCY

607834 NEUROTICISM

608177 EXOSTOSIN 1; EXT1

608655 GAP JUNCTION PROTEIN, ALPHA-7; GJA7

Clinical Synopsis for 172700 PICK DISEASE OF BRAIN

Clinical Synopsis for 238350 HYPERLEXIA

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

Clinical Synopsis for 245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Clinical Synopsis for 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

Clinical Synopsis for 271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4

Clinical Synopsis for 312170 PYRUVATE DECARBOXYLASE DEFICIENCY

Clinical Synopsis for 600274 FRONTOTEMPORAL DEMENTIA

August 6, 2004

Changed Entries:

106210 ANIRIDIA, TYPE II; AN2

107580 TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A

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

113100 BRACHYDACTYLY, TYPE C; BDC

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2

138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR

142385 HEPATIC LEUKEMIA FACTOR; HLF

142910 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR

148300 KERATOCONUS 1; KTCN1

155720 MELANOMA, UVEAL

157655 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1; NDUFS1

164185 OCULAR CICATRICIAL PEMPHIGOID; OCP

180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65

180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B

180200 RETINOBLASTOMA; RB1

204100 LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2

217800 MACULAR DYSTROPHY, CORNEAL, 1; MCDC1

252010 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5

601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

601696 NOVELTY SEEKING PERSONALITY TRAIT

602098 POLO-LIKE KINASE; PLK

605172 PROSTAGLANDIN E SYNTHASE; PTGES

605294 CARBOHYDRATE SULFOTRANSFERASE 6; CHST6

605434 CLASPIN, XENOPUS, HOMOLOG OF

607061 UNACTIVE PROGESTERONE RECEPTOR, 23-KD

August 5, 2004

New Entries:

608833 CHROMOSOME 20 OPEN READING FRAME 41; C20ORF41

Changed Entries:

118825 CHM-LIKE; CHML

118860 CHORIONIC GONADOTROPIN, BETA CHAIN; CGB

124097 D SITE OF ALBUMIN PROMOTER-BINDING PROTEIN; DBP

142385 HEPATIC LEUKEMIA FACTOR; HLF

165230 GLI-KRUPPEL FAMILY MEMBER 2; GLI2

173393 PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR

179020 PYRIDOXAL KINASE; PDXK

188035 PRO-PLATELET BASIC PROTEIN-LIKE 1; PPBPL1

188595 THYROTROPH EMBRYONIC FACTOR; TEF

191170 TUMOR PROTEIN p53; TP53

300390 CHM GENE; CHM

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600427 E2F TRANSCRIPTION FACTOR 3; E2F3

602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7

602700 E1A-BINDING PROTEIN, 300-KD; EP300

602929 LOSS OF HETEROZYGOSITY, 11, CHROMOSOMAL REGION 2, GENE A; LOH11CR2A

603287 PYRIDOXINE-5-PRIME-PHOSPHATE OXIDASE

603361 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B

603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A

603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1

604166 RIBOSOMAL PROTEIN L7; RPL7

607270 AUTS2 GENE; AUTS2

August 4, 2004

New Entries:

608830 RETINOL DEHYDROGENASE 12; RDH12

608832 GREMLIN 2 HOMOLOG, CYSTEINE KNOT SUPERFAMILY; GREM2

Changed Entries:

117100 CENTRALOPATHIC EPILEPSY

128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1

154705 MARFAN SYNDROME, TYPE II; MFS2

176990 S100 CALCIUM-BINDING PROTEIN, BETA; S100B

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

252800 ALPHA-L-IDURONIDASE; IDUA

300144 GLUTAMATE DEHYDROGENASE 2; GLUD2

601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST

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

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

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

603054 GREMLIN 1 HOMOLOG, CYSTEINE KNOT SUPERFAMILY; GREM1

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE

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

604611 RECQ PROTEIN-LIKE 2; RECQL2

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

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

607014 HURLER SYNDROME

607892 DESMOGLEIN 4; DSG4

607970 G PROTEIN-COUPLED RECEPTOR 135; GPR135

608575 RETINOL DEHYDROGENASE 8; RDH8

608830 RETINOL DEHYDROGENASE 12; RDH12

Clinical Synopsis for 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

Clinical Synopsis for 601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C

August 3, 2004

New Entries:

608829 SMALL UBIQUITIN-LIKE MODIFIER 4; SUMO4

Changed Entries:

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10

143100 HUNTINGTON DISEASE; HD

147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC

148300 KERATOCONUS 1; KTCN1

164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2

502000 AGING

600013 TRANSCRIPTION FACTOR YY1; YY1

600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5

600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1

601143 DYNACTIN 1; DCTN1

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

601846 VACUOLAR NEUROMYOPATHY

601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1

602231 SMALL UBIQUITIN-LIKE MODIFIER 3; SUMO3

603042 SMALL UBIQUITIN-LIKE MODIFIER 2; SUMO2

603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8;

603567 PROTEIN INHIBITOR OF ACTIVATED STAT2; PIAS2

604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE

605989 PROTEIN INHIBITOR OF ACTIVATED STAT4; PIAS4

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

607563 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER

608826 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 7; CGB7

Clinical Synopsis for 236670 WALKER-WARBURG SYNDROME

Clinical Synopsis for 605899 GLYCINE ENCEPHALOPATHY; GCE

August 2, 2004

New Entries:

608828 DROSHA, DROSOPHILA, HOMOLOG OF

Changed Entries:

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

153600 MACROGLOBULINEMIA, WALDENSTROM; WM

162640 NEUROPEPTIDE Y; NPY

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

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

310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD

313700 ANDROGEN RECEPTOR; AR

604362 LIM DOMAIN ONLY 7; LMO7

607531 KRUPPEL-LIKE FACTOR 12; KLF12

607532 PROGESTERONE-INDUCED BLOCKING FACTOR 1

607533 DIS3, S. POMBE, HOMOLOG OF