PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for June, 2002

June 28, 2002

New Entries:

607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5

607079 RHESUS BLOOD GROUP, B GLYCOPROTEIN; RHBG

607080 GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY

607081 TAP-BINDING PROTEIN-RELATED PROTEIN

607082 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 2; CACNA2D2

607083 WOLF-HIRSCHHORN SYNDROME CANDIDATE 1-LIKE 1; WHSC1L1

607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31

Changed Entries:

102750 ADENOSINE KINASE; ADK

104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3

104750 SERUM AMYLOID A1; SAA1

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

123450 CRI-DU-CHAT SYNDROME

131242 ENDOTHELIN 3; EDN3

132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1

147780 INTERLEUKIN 4; IL4

147891 ISCHIOPATELLAR DYSPLASIA

158810 MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES

181400 AMYOTROPHY, SCAPULOPERONEAL

192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH

193675 REMOVED FROM DATABASE

215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD

219700 CYSTIC FIBROSIS; CF

226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4

229300 FRIEDREICH ATAXIA 1; FRDA

254090 MUSCULAR DYSTROPHY, SCLEROATONIC

260470 PANENCEPHALITIS, SUBACUTE SCLEROSING

277580 WAARDENBURG-SHAH SYNDROME

312861 5-@HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C

600018 OPIOID RECEPTOR, MU-1; OPRM1

600085 PROTEIN-TYROSINE KINASE SYK; SYK

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

600879 NUCLEAR RESPIRATORY FACTOR 1; NRF1

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601962 TAP-BINDING PROTEIN; TAPBP

602109 MATRILIN 3; MATN3

604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1

605423 DESERT HEDGEHOG; DHH

606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

607083 WOLF-HIRSCHHORN SYNDROME CANDIDATE 1-LIKE 1; WHSC1L1

June 27, 2002

New Entries:

607074 PROTEIN KINASE D2

607075 PDGFA-ASSOCIATED PROTEIN 1; PDAP1

607076 PROTEASE INHIBITOR 15; PI15

607077 PROTEIN KINASE C, NU; PRKCN

Changed Entries:

100070 ABDOMINAL AORTIC ANEURYSM

102770 ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1

110700 BLOOD GROUP--DUFFY SYSTEM; FY

112264 BONE MORPHOGENETIC PROTEIN 1; BMP1

118945 CILIARY NEUROTROPHIC FACTOR; CNTF

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

125305 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.9; EPB49

131340 PRODYNORPHIN; PDYN

138079 GLUCOKINASE; GCK

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

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147380 INHIBIN, ALPHA; INHA

156240 MESOTHELIOMA, MALIGNANT

166710 OSTEOPOROSIS, INVOLUTIONAL

173120 SECRETORY GRANULE NEUROENDOCRINE PROTEIN 1; SGNE1

173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176730 INSULIN; INS

176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1

180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1

192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY

213600 FAHR DISEASE

224690 EAR, PATELLA, SHORT STATURE SYNDROME

258040 OEIS COMPLEX

276902 USHER SYNDROME, TYPE III; USH3

300205 EMOPAMIL-BINDING PROTEIN; EBP

300385 NUCLEOSOMAL BINDING PROTEIN 1; NSBP1

306700 HEMOPHILIA A

308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

516020 CYTOCHROME b OF COMPLEX III; MTCYB

600142 CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISK DISEASE

601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL

601124 SEMAPHORIN 3F; SEMA3F

601272 SORTING NEXIN 1; SNX1

601281 SEMAPHORIN 3B; SEMA3B

601410 DIABETES MELLITUS, TRANSIENT NEONATAL

601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1

601726 NEUROGENIN 1; NEUROG1

601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7

601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2

602725 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2

603005 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2

603006 CADHERIN 4; CDH4

603007 CADHERIN 6; CDH6

603017 CADHERIN 17; CDH17

603019 CADHERIN 18; CDH18

603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A

603516 SPINOCEREBELLAR ATAXIA 10; SCA10

603709 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 22; ADAM22

603710 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 23; ADAM23

604038 HYALURONOGLUCOSAMINIDASE 3; HYAL3

604437 SOLUTE CARRIER FAMILY 38, MEMBER 3; SLC38A3

604760 ZINC FINGER PROTEIN 236; ZNF236

604882 NEUROGENIN 3; NEUROG3

605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1

606176 DIABETES MELLITUS, NEONATAL-ONSET

606210 SELENOPROTEIN N, 1; SEPN1

606214 SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4

606325 HETEROTAXY, VISCERAL, 3

606624 NEUROGENIN 2; NEUROG2

606632 ODOR, MALE, WOMEN'S CHOICE OF

606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

606708 SPLIT-HAND/FOOT MALFORMATION 5

606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO

606798 BLEPHAROSPASM, BENIGN ESSENTIAL

606884 RNA-BINDING MOTIF PROTEIN 5; RBM5

607052 FUS1 GENE

607068 101F6 GENE

607069 PL6 GENE

607070 BLU GENE

607072 NPR2, S. CEREVISIAE, HOMOLOG OF

607073 FUS2 GENE

607074 PROTEIN KINASE D2

607075 PDGFA-ASSOCIATED PROTEIN 1; PDAP1

607077 PROTEIN KINASE C, NU; PRKCN

Clinical Synopsis for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS

Clinical Synopsis for 243500 ISOVALERICACIDEMIA

June 26, 2002

New Entries:

607060 PARKINSON DISEASE 8; PARK8

607061 UNACTIVE PROGESTERONE RECEPTOR, 23-KD

607062 FK506-BINDING PROTEIN 7; FKBP7

607063 FK506-BINDING PROTEIN 10; FKBP10

607064 PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER 2; PCOLCE2

607065 GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE; QPCT

607071 HYALURONOGLUCOSAMINIDASE 1; HYAL1

607072 NPR2, S. CEREVISIAE, HOMOLOG OF

607073 FUS2 GENE

Changed Entries:

102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1

107400 PROTEASE INHIBITOR 1; PI

109535 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5

109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1

113705 BREAST CANCER, TYPE 1; BRCA1

120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2

134770 FERRITIN HEAVY CHAIN 1; FTH1

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

160790 MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3

173120 SECRETORY GRANULE NEUROENDOCRINE PROTEIN 1; SGNE1

176730 INSULIN; INS

176920 PROTEUS SYNDROME

182380 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1;

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

192500 LONG QT SYNDROME 1

205400 TANGIER DISEASE; TGD

212750 CELIAC DISEASE; CD

254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1

272120 SUDDEN INFANT DEATH SYNDROME

300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN

600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1

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

600277 INHIBITOR OF DNA BINDING 3; ID3

600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2

601492 HYALURONIDASE DEFICIENCY

601835 CHEMOKINE (C-C) RECEPTOR 6; CCR6

602069 NEUROPILIN 1; NRP1

602124 DYSTONIA 7, TORSION; DYT7

602582 DELTEX, DROSOPHILA, HOMOLOG OF, 1; DTX1

603262 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 1; PAPSS1

603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2

603644 SCO1, S. CEREVISIAE, HOMOLOG OF; SCO1

604038 HYALURONOGLUCOSAMINIDASE 3; HYAL3

604510 HYALURONOGLUCOSAMINIDASE 4; HYAL4

604813 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX17; COX17

605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1

606018 EGF-LIKE REPEATS- AND DISCOIDIN I-LIKE DOMAINS-CONTAINING PROTEIN

606764 GASTROINTESTINAL STROMAL TUMOR; GIST

606786 CMRF35 ANTIGEN

606797 SUPPRESSION OF TUMORIGENICITY 14; ST14

606874 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT, 2

607060 PARKINSON DISEASE 8; PARK8

607062 FK506-BINDING PROTEIN 7; FKBP7

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

607071 HYALURONOGLUCOSAMINIDASE 1; HYAL1

June 25, 2002

New Entries:

607052 FUS1 GENE

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

607067 SAITOHIN

607068 101F6 GENE

607069 PL6 GENE

607070 BLU GENE

Clinical Synopsis for 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN

Changed Entries:

139320 GNAS COMPLEX LOCUS; GNAS

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

178400 PULMONARY EDEMA OF MOUNTAINEERS

180240 RETINOIC ACID RECEPTOR, ALPHA; RARA

300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN

480000 SEX-DETERMINING REGION Y; SRY

600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR

600725 SONIC HEDGEHOG; SHH

June 24, 2002

New Entries:

607059 SOLUTE CARRIER FAMILY 39, (ZINC TRANSPORTER), MEMBER 4; SLC39A4

Changed Entries:

106210 PAIRED BOX GENE 6; PAX6

113705 BREAST CANCER, TYPE 1; BRCA1

113970 BURKITT LYMPHOMA; BL

114025 CATENIN, ALPHA-2; CTNNA2

116800 CATARACT, LAMELLAR

124092 INTERLEUKIN 10; IL10

147139 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, GAMMA SUBUNIT;

147140 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, ALPHA SUBUNIT;

154790 PROTEASE INHIBITOR 5; PI5

162361 NESCIENT HELIX LOOP HELIX 2; NHLH2

164761 RET PROTOONCOGENE; RET

172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF

173350 PLASMINOGEN; PLG

201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

252650 MUCOLIPIDOSIS IV

260980 MOVED TO 300388

312865 SHORT STATURE HOMEO BOX; SHOX

600185 BREAST CANCER 2, EARLY-ONSET; BRCA2

600446 ADENOSINE A2B RECEPTOR; ADORA2B

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

600610 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT 1; GABPB1

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

601143 DYNACTIN 1; DCTN1

602438 HEAT-SHOCK TRANSCRIPTION FACTOR 4; HSF4

602443 X-PROLYL AMINOPEPTIDASE-LIKE; XPNPEPL

604408 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT 2; GABPB2

605353 GHRELIN

606757 SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER

607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU

607059 SOLUTE CARRIER FAMILY 39, (ZINC TRANSPORTER), MEMBER 4; SLC39A4

Clinical Synopsis for 260980 MOVED TO 300388

June 21, 2002

New Entries:

607042 CLN3 GENE; CLN3

607047 MJD GENE; MJD

607056 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; IMPG2

607058 GAP JUNCTION PROTEIN, ALPHA-9

Changed Entries:

108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1

109150 MACHADO-JOSEPH DISEASE; MJD

115150 CARDIOFACIOCUTANEOUS SYNDROME

117400 CEREBELLOPARENCHYMAL DISORDER I; CPD I

125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

165195 OPIOID RECEPTOR, DELTA-1; OPRD1

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3

557000 PEARSON MARROW-PANCREAS SYNDROME

600224 SPINOCEREBELLAR ATAXIA 5; SCA5

600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

601057 PROGRAMMED CELL DEATH 6; PDCD6

602129 MYOSIN IXB; MYO9B

603101 CARBOXYPEPTIDASE B2, PLASMA; CPB2

603516 SPINOCEREBELLAR ATAXIA 10; SCA10

June 20, 2002

New Entries:

300399 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1, INHIBITOR OF: PCSK1N

607032 PI3-KINASE-RELATED KINASE SMG1

607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

607054 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 3; PHLDA3

607055 TRANSCRIPTION FACTOR B2, MITOCHONDRIAL; TFB2M

607057 UBIQUITIN-SPECIFIC PROTEASE 18; USP18

Changed Entries:

104210 ALPHA-2A-ADRENERGIC RECEPTOR; ADRA2A

114105 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA

114480 BREAST CANCER

133170 ERYTHROPOIETIN; EPO

155255 MEDULLOBLASTOMA

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

179410 RADIXIN; RDX

205400 TANGIER DISEASE; TGD

600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST

603112 S100 CALCIUM-BINDING PROTEIN A12; S100A12

603756 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2

604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY

604641 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 1; MAPK8IP1

605201 HIGH DENSITY LIPOPROTEIN DEFICIENCY 3

606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

606837 RB1-INDUCIBLE COILED-COIL 1; RB1CC1

607032 PI3-KINASE-RELATED KINASE SMG1

607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU

Clinical Synopsis for 109150 MACHADO-JOSEPH DISEASE; MJD

June 19, 2002

New Entries:

607048 START DOMAIN-CONTAINING PROTEIN 3

607049 START DOMAIN-CONTAINING PROTEIN 4; STARD4

607050 START DOMAIN-CONTAINING PROTEIN 5; STARD5

607051 START DOMAIN-CONTAINING PROTEIN 6; STARD6

Clinical Synopsis for 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY

Changed Entries:

109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2

137290 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; TACSTD2

185535 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 1; TACSTD1

186360 ANNEXIN A7; ANXA7

236200 HOMOCYSTINURIA

261510 MOVED TO 261515

261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY

300157 FATTY ACID CoA LIGASE, LONG-CHAIN 4; FACL4

300394 TAFAZZIN; TAZ

301770 ARRESTIN 3, RETINAL; ARR3

600718 MOVED TO 185535

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

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602462 COLLAPSIN RESPONSE MEDIATOR PROTEIN 1; CRMP1

602992 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 1; LAIR1

602993 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 2; LAIR2

603112 S100 CALCIUM-BINDING PROTEIN A12; S100A12

604686 A-KINASE ANCHOR PROTEIN 13; AKAP13

605396 MOVED TO 604686

606055 PHOSPHATIDYLCHOLINE TRANSFER PROTEIN; PCTP

606989 MYELOPEROXIDASE; MPO

607043 CHROMOSOME 6 OPEN READING FRAME 5; C6ORF5

Clinical Synopsis for 261510 MOVED TO 261515

June 18, 2002

New Entries:

607043 CHROMOSOME 6 OPEN READING FRAME 5; C6ORF5

607044 T-BOX 24

607045 NONCODING RNA IN RHABDOMYOSARCOMA

607046 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF;

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

113725 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 2; POU4F2

114080 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV; CAMK4

138970 COLONY-STIMULATING FACTOR 3; CSF3

141900 HEMOGLOBIN--BETA LOCUS; HBB

172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A

176705 PROHIBITIN; PHB

179605 RETINAL DEGENERATION, SLOW; RDS

180721 ROD OUTER SEGMENT PROTEIN 1; ROM1

182392 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VII, ALPHA SUBUNIT; SCN7A

188550 THYROID CARCINOMA, PAPILLARY

194070 WILMS TUMOR 1; WT1

203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1

209920 BARE LYMPHOCYTE SYNDROME, TYPE II

221745 MITOCHONDRIAL DEAFNESS MODIFIER GENE 1; MDM1

232050 PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

300135 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

480000 SEX-DETERMINING REGION Y; SRY

600170 AQUAPORIN 3; AQP3

600299 PERICENTRIOLAR MATERIAL 1; PCM1

600835 STROMAL CELL-DERIVED FACTOR 1; SDF1

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

601683 COENZYME Q7; COQ7

601881 RETINA AND ANTERIOR NEURAL FOLD GENE; RAX

602354 LINKER FOR ACTIVATION OF T CELLS

603855 CYSTIC FIBROSIS MODIFIER 1; CFM1

604595 CHOLESTEROL-LOWERING FACTOR

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605342 PAIRED IMMUNOGLOBULIN-LIKE RECEPTOR, BETA

605428 DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26

606495 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 4; MARK4

Clinical Synopsis for 303350 MASA SYNDROME

June 17, 2002

New Entries:

607037 ENOYL-CoA HYDRATASE/3-HYDROXYACYL CoA DEHYDROGENASE; EHHADH

607038 OTOANCORIN

607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22

607040 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11

607041 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 12; ABCC12

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

109150 MACHADO-JOSEPH DISEASE; MJD

147180 IMMUNOGLOBULIN: HEAVY EPSILON CHAIN; IGHE

147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC

147421 INCLUSION BODY MYOSITIS

159900 MYOCLONIC DYSTONIA

163729 NITRIC OXIDE SYNTHASE 3; NOS3

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

170993 PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3

176300 TRANSTHYRETIN; TTR

204200 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3

234000 HAGEMAN FACTOR DEFICIENCY

261510 MOVED TO 261515

261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY

264470 PSEUDONEONATAL ADRENOLEUKODYSTROPHY

306700 HEMOPHILIA A

590035 TRANSFER RNA, MITOCHONDRIAL, GLYCINE; MTTG

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3

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

601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP

601498 PEROXISOME BIOGENESIS FACTOR 6; PEX6

601539 PEROXISOME BIOGENESIS DISORDERS; PBD

601641 ACYL-CoA OXIDASE 2, BRANCHED-CHAIN; ACOX2

601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7

601782 TESTIS-SPECIFIC PROTEIN KINASE 1; TESK1

601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4

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

604054 ACETYL-CoA ACYLTRANSFERASE 1; ACAA1

605379 GIGAXONIN

607037 ENOYL-CoA HYDRATASE/3-HYDROXYACYL CoA DEHYDROGENASE; EHHADH

June 17, 2002

New Entries:

607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

607030 GRANCALCIN; GCA

607034 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A

607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU

Clinical Synopsis for 300000 OPITZ SYNDROME

Changed Entries:

120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FCAS

120250 COLLAGEN, TYPE VI, ALPHA-3; COL6A3

120360 MATRIX METALLOPROTEINASE 2; MMP2

135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; FEOM1

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

148300 KERATOCONUS

163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME

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

165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI

168600 PARKINSON DISEASE; PD

171900 PHOSPHOGLUCOMUTASE 1; PGM1

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

184755 STEROL CARRIER PROTEIN 2; SCP2

184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1

193200 VITILIGO

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

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

201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF

212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP

231670 GLUTARICACIDEMIA I

231680 GLUTARICACIDURIA IIA

243500 ISOVALERICACIDEMIA

254090 MUSCULAR DYSTROPHY, SCLEROATONIC

300000 OPITZ SYNDROME

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

300392 WAS GENE; WAS

600514 REELIN; RELN

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

600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3; FEOM3

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

600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2

601119 CLpP, E. COLI, HOMOLOG OF; CLPP

601530 SEQUESTOSOME 1; SQSTM1

601531 LEUKOTRIENE B4 RECEPTOR; LTB4R

601998 ESTROGEN-RELATED RECEPTOR, ALPHA; ESRRA

602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; FEOM2

602080 PAGET DISEASE OF BONE; PDB

602430 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 1; ROBO1

602431 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2

603742 SLIT, DROSOPHILA, HOMOLOG OF, 1; SLIT1

603746 SLIT, DROSOPHILA, HOMOLOG OF, 2; SLIT2

604214 CEREBRAL CAVERNOUS MALFORMATIONS 1 GENE; CCM1

604361 MOVED TO 600638

604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8

605254 NICASTRIN

605290 OPTIC ATROPHY 1 GENE; OPA1

606262 MOVED TO 602080

606263 PAGET DISEASE OF BONE 4; PDB4

606416 CIAS1 GENE; CIAS1

606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS

607031 LIPOIC ACID SYNTHASE; LIAS

607033 TRANSCRIPTION FACTOR B1, MITOCHONDRIAL; TFB1M

607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU

Clinical Synopsis for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS

Clinical Synopsis for 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

Clinical Synopsis for 304110 CRANIOFRONTONASAL SYNDROME; CFNS

Clinical Synopsis for 604290 ACERULOPLASMINEMIA

June 13, 2002

New Entries:

607029 VESICLE-ASSOCIATED MEMBRANE PROTEIN 5: VAMP5

607031 LIPOIC ACID SYNTHASE; LIAS

607033 TRANSCRIPTION FACTOR B1, MITOCHONDRIAL; TFB1M

Changed Entries:

100500 ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER

107741 APOLIPOPROTEIN E; APOE

114290 CAMPOMELIC DYSPLASIA

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

142409 HEPATOCYTE GROWTH FACTOR; HGF

142959 HOMEO BOX A13; HOXA13

148300 KERATOCONUS

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD; MTP

164160 LEPTIN; LEP

164500 SPINOCEREBELLAR ATAXIA 7; SCA7

164860 MET PROTOONCOGENE; MET

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

168600 PARKINSON DISEASE; PD

173391 PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR

180240 RETINOIC ACID RECEPTOR, ALPHA; RARA

187395 TERATOCARCINOMA-DERIVED GROWTH FACTOR 1; TDGF1

233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-NEGATIVE FORM

252600 MUCOLIPIDOSIS III

276850 SCHULMAN-UPSHAW SYNDROME;; USS

300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5

300196 TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X

300377 DYSTROPHIN; DMD

304040 GAP JUNCTION PROTEIN, BETA-1; GJB1

600819 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1; FXR1

601205 SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; SIX1

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

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

601653 EYES ABSENT 1; EYA1

601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8

602229 SRY-BOX 10; SOX10

602706 PROTEASOME 26S SUBUNIT, ATPase, 1; PSMC1

602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9

603357 MEGSIN

604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1

605382 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

605836 UNC13-LIKE; UNC13

606201 WOLFRAM SYNDROME GENE 1; WFS1

606847 TCOF1 GENE

607029 VESICLE-ASSOCIATED MEMBRANE PROTEIN 5: VAMP5

607031 LIPOIC ACID SYNTHASE; LIAS

June 12, 2002

New Entries:

606984 HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2

607028 ATPASE, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 1;

Changed Entries:

108746 ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E; ATP6V1E

116880 CATHEPSIN L; CTSL

120920 MEMBRANE COFACTOR PROTEIN; MCP

124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2

138040 GLUCOCORTICOID RECEPTOR; GCCR

139250 GROWTH HORMONE 1; GH1

142230 HEMATOPOIETIC PROGENITOR CELL ANTIGEN CD34; CD34

142995 HOMEO BOX GENE HB24

151430 B-CELL CLL/LYMPHOMA 2; BCL2

171300 PHEOCHROMOCYTOMA

178990 MATRIX METALLOPROTEINASE 7; MMP7

180380 RHODOPSIN; RHO

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

300358 PROTEIN KINASE, LYSINE-DEFICIENT 3; PRKWNK3

600225 GTP CYCLOHYDROLASE I; GCH1

600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA SUBUNIT; SCNN1A

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

600823 PROTEASE, SERINE, 8; PRSS8

601172 CHONDROITIN SULFATE PROTEOGLYCAN 4; CSPG4

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

602544 PARKIN; PARK2

603030 TOLL-LIKE RECEPTOR 4; TLR4

603097 ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 1;

603854 RAN-BINDING PROTEIN 9; RANBP9

604895 T-BOX 21; TBX21

604982 HERMANSKY-PUDLAK SYNDROME GENE 1; HPS1

605243 MD2 PROTEIN

605244 CARNEY COMPLEX, TYPE II; CNC2

605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5

605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8

606091 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 10; SIGLEC10

606275 MOVED TO 601172

607003 THYMIC STROMAL LYMPHOPOIETIN

Clinical Synopsis for 604290 ACERULOPLASMINEMIA

June 10, 2002

New Entries:

300358 PROTEIN KINASE, LYSINE-DEFICIENT 3; PRKWNK3

606966 NEPHRONOPHTHISIS 4; NPHP4

606995 SENIOR-LOKEN SYNDROME, LOCUS ON CHROMOSOME 3

606996 SENIOR-LOKEN SYNDROME, LOCUS ON CHROMOSOME 1

607027 ATPASE, H+ TRANSPORTING, LYSOSOMAL ALPHA POLYPEPTIDE, 70-KD, ISOFORM

Changed Entries:

102200 ACROMEGALY

122560 CORTICOTROPIN-RELEASING HORMONE; CRH

127100 DWARFISM, LEVI TYPE

146930 INTERLEUKIN 8; IL8

146931 INTERLEUKIN 9; IL9

153550 5q- SYNDROME

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

205400 HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1; HDLDT1

223600 MOVED TO 127100

230400 GALACTOSEMIA

253200 MUCOPOLYSACCHARIDOSIS TYPE VI

253220 MUCOPOLYSACCHARIDOSIS TYPE VII

254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1

256100 NEPHRONOPHTHISIS 1; NPHP1

266900 SENIOR-LOKEN SYNDROME

308700 KALLMANN SYNDROME 1; KAL1

312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1

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

600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP

600718 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 1; TACSTD1

602544 PARKIN; PARK2

602914 AQUAPORIN 9; AQP9

602959 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-2; EEF1A2

602974 AQUAPORIN 7; AQP7

604387 NEPHRONOPHTHISIS 3; NPHP3

606953 UDP-GALACTOSE-4-EPIMERASE; GALE

607027 ATPASE, H+ TRANSPORTING, LYSOSOMAL ALPHA POLYPEPTIDE, 70-KD, ISOFORM

Clinical Synopsis for 127100 DWARFISM, LEVI TYPE

Clinical Synopsis for 223600 MOVED TO 127100

June 7, 2002

New Entries:

300398 B-CELL RECEPTOR-ASSOCIATED PROTEIN, 31-KD

606910 BCL2-LIKE 10; BCL2L10

606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

607023 SERUM-INDUCIBLE KINASE; SNK

607024 DEBRANCHING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; DBR1

607025 MATERNAL EMBRYONIC LEUCINE ZIPPER KINASE; MELK

607026 RETINOIC ACID-INDUCIBLE GENE IN NEUROBLASTOMA 1

Changed Entries:

100880 ACONITASE, SOLUBLE; ACO1

109565 B-CELL LYMPHOMA 6; BCL6

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

120470 DELETED IN COLORECTAL CARCINOMA; DCC

125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

131410 RIBONUCLEASE A FAMILY, 2; RNASE2

137060 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1;

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

150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN

176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1

180200 RETINOBLASTOMA; RB1

230400 GALACTOSEMIA

236250 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

300188 TRINUCLEOTIDE REPEAT-CONTAINING GENE 11; TNRC11

300395 THO2, YEAST, HOMOLOG OF

600939 INTERLEUKIN 11 RECEPTOR, ALPHA; IL11RA

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

602464 TNF RECEPTOR-ASSOCIATED FACTOR 4; TRAF4

602852 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF, 2; NUDT2

604123 RIBONUCLEASE H1; RNASEH1

604156 SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1

604171 TRANSCRIPTIONAL COACTIVATOR ALY

605286 CALPAIN 10; CAPN10

605375 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3

606390 U2AF65-ASSOCIATED PROTEIN, 56-KD; UAP56

606418 24-@DEHYDROCHOLESTEROL REDUCTASE; DHCR24

606844 ALSTROM SYNDROME GENE; ALMS1

606904 MYOCLONIC EPILEPSY, JUVENILE; JME

606910 BCL2-LIKE 10; BCL2L10

606929 TEX1, YEAST, HOMOLOG OF

606930 NUCLEAR MATRIX PROTEIN p84

606953 UDP-GALACTOSE-4-EPIMERASE; GALE

606958 MEMBRANE PROTEIN, PALMITOYLATED 5; MPP5

606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

607010 SMAD4-INTERACTING TRANSCRIPTION FACTOR

607023 SERUM-INDUCIBLE KINASE; SNK

June 6, 2002

New Entries:

607017 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 21; DFNA21

607018 LATROPHILIN HOMOLOG 1; LPHH1

607019 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 3; RASSF3

607020 NORE1, MOUSE, HOMOLOG OF

607021 SEIZURE-RELATED 6-LIKE; SEZ6L

607022 CCCTC-BINDING FACTOR-LIKE PROTEIN; CTCFL

Changed Entries:

109565 B-CELL LYMPHOMA 6; BCL6

110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

142623 HIRSCHSPRUNG DISEASE

172700 PICK DISEASE OF BRAIN

191170 TUMOR PROTEIN p53; TP53

203800 ALSTROM SYNDROME; ALMS

300377 DYSTROPHIN; DMD

305371 GATA-BINDING PROTEIN 1; GATA1

312000 PANHYPOPITUITARISM; PHP

601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1

603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2

603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE

604167 CCCTC-BINDING FACTOR; CTCF

604877 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN

607021 SEIZURE-RELATED 6-LIKE; SEZ6L

June 5, 2002

New Entries:

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

607010 SMAD4-INTERACTING TRANSCRIPTION FACTOR

607011 UBIQUITIN-SPECIFIC PROTEASE 17; USP17

607012 B-DOUBLE PRIME 1, SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION

607013 BRF2 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR;

Changed Entries:

101400 SAETHRE-CHOTZEN SYNDROME; SCS

107730 APOLIPOPROTEIN B; APOB

107741 APOLIPOPROTEIN E; APOE

107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1

108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS

109091 CALRETICULIN; CALR

110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

111250 LANDSTEINER-WIENER BLOOD GROUP; LW

114070 ANNEXIN A6; ANXA6

114085 S100 CALCIUM-BINDING PROTEIN A10; S100A10

114480 BREAST CANCER

116952 CELL DIVISION CYCLE 42; CDC42

116955 ZINC FINGER PROTEIN 9; ZNF9

118455 CYTOCHROME P450, SUBFAMILY VIIA, POLYPEPTIDE 1; CYP7A1

120940 COMPLEMENT COMPONENT 9; C9

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

134797 FIBRILLIN 1; FBN1

143890 HYPERCHOLESTEROLEMIA, FAMILIAL

144250 HYPERLIPIDEMIA, FAMILIAL COMBINED

147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1

148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

151740 ANNEXIN A2; ANXA2

154550 MANNOSEPHOSPHATE ISOMERASE; MPI

154570 MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE

154790 PROTEASE INHIBITOR 5; PI5

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

162200 NEUROFIBROMATOSIS, TYPE I; NF1

165040 ONCOGENE MEL; MEL

167040 OXYSTEROL-BINDING PROTEIN; OSBP

173360 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1

173470 INTEGRIN, BETA-3; ITGB3

176270 PRADER-WILLI SYNDROME; PWS

180200 RETINOBLASTOMA; RB1

184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1

188040 THROMBOMODULIN; THBD

192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR

193200 VITILIGO

215700 CITRULLINEMIA, CLASSIC

230350 GALACTOSE EPIMERASE DEFICIENCY

243305 INVERSIN

257220 NIEMANN-PICK DISEASE, TYPE C

269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME

600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2

600126 PHOSPHODIESTERASE 4A, cAMP-SPECIFIC; PDE4A

600274 FRONTOTEMPORAL DEMENTIA

600481 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2

600514 REELIN; RELN

600710 MOVED TO 600564

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

601040 CD36 ANTIGEN-LIKE 1; CD36L1

601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST

601649 MOVED TO 101400

602247 XANTHOMATOSIS, SUSCEPTIBILITY TO

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602600 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 8; LRP8

603159 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 3; LRP3

603470 ARGININOSUCCINATE SYNTHETASE; ASS

603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH

604084 ZINC FINGER PROTEIN 151; ZNF151

604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A

605028 LOW DENSITY LIPOPROTEIN CHOLESTEROL, MILD ELEVATION OF

605123 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 1; SPINT1

605324 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 2; APPBP2

605399 NIDOGEN 2; NID2

605747 AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA GENE; ARH

605903 LIM DOMAIN PROTEIN ENIGMA

606475 8D6 ANTIGEN

606635 PROTEASE, SERINE, 7; PRSS7

606729 OXYSTEROL-BINDING PROTEIN 2; OSBP2

606973 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1

606974 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 2; COG2

606994 ACTIVATED P21CDC42HS KINASE

607010 SMAD4-INTERACTING TRANSCRIPTION FACTOR

607012 B-DOUBLE PRIME 1, SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION

June 4, 2002

New Entries:

607009 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6;

Changed Entries:

104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3

105830 ANGELMAN SYNDROME; AS

114840 CARBOXYL-ESTER LIPASE; CEL

117700 CERULOPLASMIN; CP

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

151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1

161400 NARCOLEPSY

162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB

163400 NIEVERGELT SYNDROME

164500 SPINOCEREBELLAR ATAXIA 7; SCA7

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

168600 PARKINSON DISEASE; PD

182392 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VI, ALPHA SUBUNIT; SCN6A

191160 TUMOR NECROSIS FACTOR; TNF

191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B

218040 COSTELLO SYNDROME

232400 GLYCOGEN STORAGE DISEASE III

240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

240400 HYPOASCORBEMIA

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

262890 PLATELET RECEPTOR FOR FACTOR X, DEFICIENCY OF

264900 PTA DEFICIENCY

561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1

600308 AQUAPORIN 4; AQP4

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

602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG

603358 GRACILE SYNDROME

603790 SOLUTE CARRIER FAMILY 23, MEMBER 2; SLC23A2

603791 SOLUTE CARRIER FAMILY 23, MEMBER 1; SLC23A1

605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM; PPM1D

605365 BREAST CANCER, TYPE 3

607007 SNARE-ASSOCIATED PROTEIN SNAPIN; SNAPAP

June 3, 2002

New Entries:

607005 GEM-ASSOCIATED PROTEIN 5

607006 GEM-ASSOCIATED PROTEIN 6

607007 SNARE ASSOCIATED PROTEIN SNAPIN; SNAPAP

Changed Entries:

104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3

137800 GLIOMA OF BRAIN

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

163000 NEVI FLAMMEI, FAMILIAL MULTIPLE

168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION

194050 WILLIAMS-BEUREN SYNDROME; WBS

200150 CHOREOACANTHOCYTOSIS; CHAC

203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1

234000 HAGEMAN FACTOR DEFICIENCY

530000 KEARNS-SAYRE SYNDROME; KSS

590100 TRANSFER RNA, MITOCHONDRIAL, TYROSINE; MTTY

600202 DYSLEXIA, SPECIFIC, 2; DYX2