PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for August, 2001

August 31, 2001

New Entries:

606239 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 4; ZNFN1A4

606240 NONMEDULLARY THYROID CARCINOMA 1

606241 DICER, DROSOPHILA, HOMOLOG OF

606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,

606243 ALVEOLAR SOFT PART SARCOMA; ASPS

606244 SIGNAL-TRANSDUCING ADAPTOR MOLECULE 2; STAM2

606245 JJAZ1 GENE

606246 JAZF1 GENE

606247 ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM

Clinical Synopsis for 606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,

Changed Entries:

147740 INTERLEUKIN 3; IL3

151410 BREAKPOINT CLUSTER REGION; BCR

179755 RENAL CELL CARCINOMA, PAPILLARY, 1 GENE; PRCC

188550 THYROID CARCINOMA, PAPILLARY

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

208150 PENA-SHOKEIR SYNDROME, TYPE I

270685 SPASTIC PARAPLEGIA 17

600297 CAUDAL-TYPE HOMEO BOX TRANSCRIPTION FACTOR 2; CDX2

600649 HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE

600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2

601124 SEMAPHORIN 3F; SEMA3F

601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; PRKWNK4

601899 SIGNAL-TRANSDUCING ADAPTOR MOLECULE 1; STAM

602069 NEUROPILIN 1; NRP1

602070 NEUROPILIN 2; NRP2

602822 H4 HISTONE FAMILY, MEMBER A; H4FA

602950 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 2;

603961 SEMAPHORIN 3A; SEMA3A

604066 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 5;

604825 FASCICULATION AND ELONGATION PROTEIN ZETA 1; FEZ1

605074 RENAL CELL CARCINOMA, PAPILLARY

605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1

605386 LET7, C. ELEGANS, HOMOLOG OF

605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA

606232 CHROMOSOME 22q13.3 DELETION SYNDROME

606236 ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPCR1

606238 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 5

606240 NONMEDULLARY THYROID CARCINOMA 1

606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,

606245 JJAZ1 GENE

Clinical Synopsis for 155601 MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2

Clinical Synopsis for 156100 MENINGIOMA 1; MN1

Clinical Synopsis for 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO

Clinical Synopsis for 312300 REIFENSTEIN SYNDROME

Clinical Synopsis for 606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,

August 30, 2001

New Entries:

606234 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 2

606235 THIOREDOXIN REDUCTASE 2

606236 ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPCR1

606237 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR-ASSOCIATED PROTEIN 1

606238 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 5

Changed Entries:

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

114350 NUCLEOPORIN, 214-KD; NUP214

143100 HUNTINGTON DISEASE; HD

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

176730 INSULIN; INS

179755 RENAL CELL CARCINOMA, PAPILLARY, 1; PRCC

186590 SYNTAXIN 1A; STX1A

210900 BLOOM SYNDROME; BLM

216550 COHEN SYNDROME; COH1

305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

308100 ICHTHYOSIS, X-LINKED

312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1

314310 TRANSCRIPTION FACTOR FOR IMMUNOGLOBULIN HEAVY-CHAIN ENHANCER 3; TFE3

600181 LIPOCALIN 2; LCN2

600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2

601112 THIOREDOXIN REDUCTASE 1; TXNRD1

602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA

604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1

605199 SPLICING FACTOR, PROLINE- AND GLUTAMINE-RICH; SFPQ

605836 UNC13-LIKE; UNC13

606230 PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN 2

606236 ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPCR1

August 30, 2001

New Entries:

400023 CYTOKINE RECEPTOR-LIKE FACTOR 2, Y-LINKED; CRLF2Y

606230 PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN 2

606231 FLJ10659 GENE

606232 CHROMOSOME 22q13.3 DELETION SYNDROME

606233 ENDOCRINE GLAND-DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR

Changed Entries:

107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

157680 CELL DIVISION CYCLE 25C; CDC25C

178990 MATRIX METALLOPROTEINASE 7; MMP7

190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB

191170 TUMOR PROTEIN p53; TP53

300357 CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2

600225 GTP CYCLOHYDROLASE I; GCH1

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

602218 SAL-LIKE 1; SALL1

603749 TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; TRPC7

603768 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12B; PPP1R12B

603903 SICKLE CELL ANEMIA

604638 ACTININ, ALPHA-4; ACTN4

August 28, 2001

New Entries:

300357 CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2

606224 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 1; UMPH1

606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1

606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2

606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN

606228 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1

606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2

Changed Entries:

116955 ZINC FINGER PROTEIN 9; ZNF9

126450 DOPAMINE RECEPTOR D2; DRD2

159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL

164160 LEPTIN; LEP

167870 PANIC DISORDER

191050 TRYPTOPHANYL-tRNA SYNTHETASE; WARS

191181 SUPPRESSOR OF TUMORIGENICITY 3; ST3

191290 TYROSINE HYDROXYLASE; TH

191720 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 2; UMPH2

194070 WILMS TUMOR 1; WT1

266120 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA

300272 HISTONE DEACETYLASE 6; HDAC6

601182 ORIGIN RECOGNITION COMPLEX, SUBUNIT 2, S. CEREVISIAE, HOMOLOG OF;

601267 CHEMOKINE (C-C) RECEPTOR 2; CCR2

602668 DYSTROPHIA MYOTONICA 2; DM2

603526 METASTASIS-ASSOCIATED GENE 1; MTA1

603724 FIBROBLAST GROWTH FACTOR 16; FGF16

603839 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 3; NDUFB3

604025 AXIS INHIBITOR 2; AXIN2

604155 LanC-LIKE 1; LANCL1

604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

605843 TRANS-2-ENOYL-CoA REDUCTASE, PEROXISOMAL

605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3

605887 MOVED TO 300357

606224 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 1; UMPH1

606228 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1

August 27, 2001

Changed Entries:

107480 TOWNES-BROCKS SYNDROME; TBS

129010 EARLY GROWTH RESPONSE 2; EGR2

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC

159430 MYELIN BASIC PROTEIN; MBP

159900 MYOCLONIC DYSTONIA

160900 DYSTROPHIA MYOTONICA 1

167870 PANIC DISORDER

175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES

188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB

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

225250 MOVED TO 218700

229300 FRIEDREICH ATAXIA 1; FRDA

249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

600155 HIRSCHSPRUNG DISEASE 2; HSCR2

600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2

601051 MESOTHELIN; MSLN

601074 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 1; CUGBP1

601992 FRIEDREICH ATAXIA 2

603115 DEAD/H BOX 9; DDX9

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

604149 SARCOGLYCAN, EPSILON; SGCE

605108 NEUROMEDIN U RECEPTOR 2; NMU2R

605408 DYSTONIA 11, MYOCLONIC; DYT11

605820 NONAKA MYOPATHY

605956 NOD2 PROTEIN

Clinical Synopsis for 225250 MOVED TO 218700

August 27, 2001

New Entries:

300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,

606176 DIABETES MELLITUS, NEONATAL-ONSET

606220 MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS

606221 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 3; ZNFN1A3

606222 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 6; IGSF6

606223 PROTEASOME 26S SUBUNIT, NON-ATPASE, 2; PSMD2

Changed Entries:

107280 ALPHA-1-ANTICHYMOTRYPSIN; AACT

111200 BLOOD GROUP--LUTHERAN SYSTEM; LU

112500 BRACHYDACTYLY, TYPE A1; BDA1

118450 ALAGILLE SYNDROME; AGS

125670 DESMOGLEIN 1; DSG1

138079 GLUCOKINASE; GCK

148700 KERATOSIS PALMOPLANTARIS STRIATA I

164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2

167415 PAIRED BOX GENE 8; PAX8

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

173510 CD36 ANTIGEN; CD36

179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51

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

186355 SYNDECAN 1; SDC1

192500 LONG QT SYNDROME 1

194355 X BOX-BINDING PROTEIN 1; XBP1

211530 BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS

217400 CORNEAL DYSTROPHY AND SENSORINEURAL DEAFNESS

218700 THYROID DYSGENESIS

225250 MOVED TO 218700

233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

275100 THYROTROPIN DEFICIENCY, ISOLATED

300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4

300196 TRANSDUCIN-BETA-LIKE 1; TBL1

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,

303350 MASA SYNDROME

304500 DEAFNESS, X-LINKED 2, PERCEPTIVE CONGENITAL; DFN2

304700 MOHR-TRANEBJAERG SYNDROME; MTS

308840 L1 CELL ADHESION MOLECULE; L1CAM

600075 TATA BOX-BINDING PROTEIN; TBP

600118 WARBURG MICRO SYNDROME

600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD

600751 SIALOADHESIN; SN

600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A

601410 DIABETES MELLITUS, TRANSIENT NEONATAL

601434 S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601843 SOLUTE CARRIER FAMILY 5, MEMBER 5; SLC5A5

601900 INTERFERON REGULATORY FACTOR 4; IRF4

601920 JAGGED 1; JAG1

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

602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME

602544 PARKIN; PARK2

602617 FORKHEAD BOX E1; FOXE1

602704 MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4

602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

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

603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1

605102 MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2

605471 ZINC FINGER PROTEIN, SUBFAMILY 2A, MEMBER 1; ZNFN2A1

606176 DIABETES MELLITUS, NEONATAL-ONSET

606186 SIAH1-INTERACTING PROTEIN

606210 SELENOPROTEIN N, 1; SEPN1

606214 SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4

Clinical Synopsis for 100800 ACHONDROPLASIA; ACH

Clinical Synopsis for 104300 ALZHEIMER DISEASE; AD

Clinical Synopsis for 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS

Clinical Synopsis for 189500 TOOTH-AND-NAIL SYNDROME

Clinical Synopsis for 200610 ACHONDROGENESIS, TYPE II; ACG2

Clinical Synopsis for 207800 ARGININEMIA

Clinical Synopsis for 208400 ASPARTYLGLUCOSAMINURIA

Clinical Synopsis for 213700 CEREBROTENDINOUS XANTHOMATOSIS

Clinical Synopsis for 230000 FUCOSIDOSIS

Clinical Synopsis for 231200 GIANT PLATELET SYNDROME

Clinical Synopsis for 231670 GLUTARICACIDEMIA I

Clinical Synopsis for 232300 GLYCOGEN STORAGE DISEASE II

Clinical Synopsis for 235200 HEMOCHROMATOSIS; HFE

Clinical Synopsis for 254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1

Clinical Synopsis for 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE

Clinical Synopsis for 600118 WARBURG MICRO SYNDROME

Clinical Synopsis for 605670 RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT

August 22, 2001

New Entries:

300355 MENTAL RETARDATION, X-LINKED NONSPECIFIC, 73; MRX73

606219 HEAT-SHOCK PROTEIN, 75-KD

Changed Entries:

142440 HEPSIN; HPN

146730 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1

146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3

146928 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB

146929 INTERLEUKIN 8 RECEPTOR, ALPHA; IL8RA

146930 INTERLEUKIN 8; IL8

152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1

164960 ONCOGENE PIM 1; PIM1

174800 MCCUNE-ALBRIGHT SYNDROME; MAS

176807 PROSTATE CANCER

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

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

312300 REIFENSTEIN SYNDROME

415000 AZOOSPERMIA FACTOR 1; AZF1

600221 TEK TYROSINE KINASE, ENDOTHELIAL; TEK

601984 NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4

602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6

602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7

603122 DEDICATOR OF CYTOKINESIS 2; DOCK2

606201 WOLFRAM SYNDROME GENE 1; WFS1

606212 SIRTUIN 7; SIRT7

606214 SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4

Clinical Synopsis for 100800 ACHONDROPLASIA; ACH

Clinical Synopsis for 104300 ALZHEIMER DISEASE; AD

Clinical Synopsis for 276300 TURCOT SYNDROME

Clinical Synopsis for 300322 LESCH-NYHAN SYNDROME; LNS

August 21, 2001

New Entries:

606214 SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4

606215 ATRIOVENTRICULAR SEPTAL DEFECT 1

606216 SELENOPROTEIN X, 1; SEPX1

606217 ATRIOVENTRICULAR SEPTAL DEFECT 2

606218 SELENOPHOSPHATE SYNTHETASE 2

Changed Entries:

104170 ALPHA-GALACTOSIDASE B; GALB

113300 BRACHYDACTYLY, TYPE E; BDE

114170 CALPAIN, SMALL SUBUNIT 1; CAPNS1

147791 JACOBSEN SYNDROME; JBS

153550 5q- SYNDROME

222300 WOLFRAM SYNDROME

227500 FACTOR VII DEFICIENCY

600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

602021 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A

602999 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3C; PPP1R3C

603326 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3D; PPP1R3D

603485 NITROGEN FIXATION GENE 1; NFS1

605067 TRICUSPID ATRESIA

605297 TH1-LIKE; TH1L

605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2

606201 WOLFRAM SYNDROME GENE 1; WFS1

606210 SELENOPROTEIN N, 1; SEPN1

Clinical Synopsis for 268400 ROTHMUND-THOMSON SYNDROME; RTS

August 20, 2001

New Entries:

606209 YKT6, S. CEREVISIAE, HOMOLOG OF

606210 SELENOPROTEIN N, 1; SLN1

606211 SIRTUIN 6; SIRT6

606212 SIRTUIN 7; SIRT7

606213 SIGNAL SEQUENCE RECEPTOR, GAMMA; SSR3

Changed Entries:

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

601128 H3 HISTONE, FAMILY 3A; H3F3A

601920 JAGGED 1; JAG1

604511 CHROMOBOX HOMOLOG 1; CBX1

Clinical Synopsis for 252500 MUCOLIPIDOSIS II

August 17, 2001

New Entries:

606191 FORMIN-BINDING PROTEIN 17

606207 SOLUTE CARRIER FAMILY 28, MEMBER 1; SLC28A1

606208 SOLUTE CARRIER FAMILY 28, MEMBER 2; SLC28A2

Changed Entries:

102560 ACTIN, GAMMA-1; ACTG1

107776 AQUAPORIN 1; AQP1

119800 CLUBFOOT

131195 ENDOGLIN; ENG

133170 ERYTHROPOIETIN; EPO

147796 JANUS KINASE 2; JAK2

152690 THYROID AUTOANTIGEN, 70-KD; G22P1

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

160000 MYOGLOBIN; MB

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,

170261 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,

180200 RETINOBLASTOMA; RB1

188550 THYROID CARCINOMA, PAPILLARY

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

305990 GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2

600701 HIGH MOBILITY GROUP PROTEIN ISOFORMS I AND Y; HMGIY

601121 PLACENTAL GROWTH FACTOR; PGF

601410 DIABETES MELLITUS, TRANSIENT NEONATAL

601738 EXOSTOSIN-LIKE 1; EXTL1

604373 CHECKPOINT KINASE 2

604478 CHROMOBOX HOMOLOG 5; CBX5

604928 WOLFRAM SYNDROME GENE 2; WFS2

605705 SNF1-LIKE KINASE; SNF1LK

August 16, 2001

New Entries:

606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2

606204 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS D

606205 SOLUTE CARRIER FAMILY 6, MEMBER 7; SLC6A7

606206 METALLOTHIONEIN 4

Changed Entries:

113650 BRANCHIOOTORENAL DYSPLASIA

118938 CHYMASE 1; CMA1

119800 CLUBFOOT

120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

131220 FIBROBLAST GROWTH FACTOR 1; FGF1

142623 HIRSCHSPRUNG DISEASE

142983 MUSCLE SEGMENT HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; MSX1

143100 HUNTINGTON DISEASE; HD

147851 INTERLEUKIN 5 RECEPTOR, ALPHA; IL5RA

162200 NEUROFIBROMATOSIS, TYPE I; NF1

164761 RET PROTOONCOGENE; RET

170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,

170261 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,

176450 CURRARINO SYNDROME

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

177045 PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9

177046 PROTEASOME SUBUNIT, BETA-TYPE, 8; PSMB8

180860 RUSSELL-SILVER SYNDROME; RSS

184430 SRY-BOX 4; SOX4

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

227600 FACTOR X DEFICIENCY

249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA

305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1

308100 ICHTHYOSIS, X-LINKED

308240 LYMPHOPROLIFERATIVE SYNDROME

309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1

475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY

601523 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10

601653 EYES ABSENT 1; EYA1

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601738 EXOSTOSIN-LIKE 1; EXTL1

601785 PHOSPHOMANNOMUTASE 2; PMM2

601920 JAGGED 1; JAG1

602217 SYNDECAN-BINDING PROTEIN; SDCBP

602370 GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED MOLECULE-LIKE PROTEIN; GML

603625 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS H; LY6H

603827 BCL2-LIKE 11; BCL2L11

603941 SOLUTE CARRIER FAMILY 19, MEMBER 2; SLC19A2

605710 GDNF FAMILY RECEPTOR ALPHA-3; GFRA3

606174 BACULUM, CONGENITAL ABSENCE OF

606205 SOLUTE CARRIER FAMILY 6, MEMBER 7; SLC6A7

606206 METALLOTHIONEIN 4

August 15, 2001

New Entries:

300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE

606190 MENINGIOMA, RADIATION-INDUCED

606201 WOLFRAM SYNDROME GENE 1; WFS1

606202 MELANOMA ANTIGEN AIM1

Changed Entries:

104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

109600 BEETURIA

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

120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

131300 CAMURATI-ENGELMANN DISEASE

139395 GUSTDUCIN, ALPHA POLYPEPTIDE

143890 HYPERCHOLESTEROLEMIA, FAMILIAL

155550 SILVER, MOUSE, HOMOLOG OF; SILV

160900 DYSTROPHIA MYOTONICA 1

176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;

176640 PRION PROTEIN; PRNP

192350 VATER ASSOCIATION

194200 WOLFF-PARKINSON-WHITE SYNDROME

212780 CENANI SYNDACTYLISM

222300 WOLFRAM SYNDROME

229300 FRIEDREICH ATAXIA 1; FRDA

230800 GAUCHER DISEASE, TYPE I

235200 HEMOCHROMATOSIS; HFE

267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM

301000 WISKOTT-ALDRICH SYNDROME; WAS

601419 DESMIN-RELATED MYOPATHY

601984 NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4

604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1

605692 LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 7

605961 PLEIOTROPIC REGULATOR 1; PLRG1

606195 IROQUOIS HOMEO BOX PROTEIN 5; IRX5

606196 IROQUOIS HOMEO BOX PROTEIN 7; IRX7

606197 IROQUOIS HOMEO BOX PROTEIN 1; IRX1

606198 IROQUOIS HOMEO BOX PROTEIN 2; IRX2

606201 WOLFRAM SYNDROME GENE 1; WFS1

Clinical Synopsis for 112200 BLUE RUBBER BLEB NEVUS

Clinical Synopsis for 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

Clinical Synopsis for 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

Clinical Synopsis for 175200 PEUTZ-JEGHERS SYNDROME; PJS

Clinical Synopsis for 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES

August 14, 2001

New Entries:

606171 TRANSFER RNA SERINE 1; TRS1

606172 TRANSFER RNA SERINE 3; TRS3

606195 IROQUOIS HOMEO BOX PROTEIN 5; IRX5

606196 IROQUOIS HOMEO BOX PROTEIN 7; IRX7

606197 IROQUOIS HOMEO BOX PROTEIN 1; IRX1

606198 IROQUOIS HOMEO BOX PROTEIN 2; IRX2

606200 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN DEC2

Changed Entries:

145260 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2

147760 INTERLEUKIN 1-ALPHA; IL1A

163890 SYNUCLEIN, ALPHA; SNCA

174800 MCCUNE-ALBRIGHT SYNDROME; MAS

601844 WNK4 PROTEIN KINASE

605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1

606189 CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1

Clinical Synopsis for 158350 COWDEN DISEASE; CD

Clinical Synopsis for 216550 COHEN SYNDROME; COH1

Clinical Synopsis for 253260 BIOTINIDASE; BTD

Clinical Synopsis for 253270 MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD

August 14, 2001

New Entries:

300353 IMMUNOGLOBULIN SUPERFAMILY PROTEIN Z39IG

606192 BUTYROPHILIN-LIKE PROTEIN 3; BTNL3

606193 SOLUTE CARRIER FAMILY 13, MEMBER 1; SLC13A1

606194 KERATIN 23; KRT23

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

107776 AQUAPORIN 1; AQP1

133430 ESTROGEN RECEPTOR 1; ESR1

138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR

176763 PEROXIREDOXIN 1; PRDX1

191160 TUMOR NECROSIS FACTOR; TNF

227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ

600538 PEROXIREDOXIN 2; PRDX2

601476 LYSOSOMAL-ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5; LAPTM5

601482 DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1

601485 SYNTAXIN 1B; STX1B

601490 NUCLEAR FACTOR ERYTHROID 2, p45 SUBUNIT; NFE2

602544 PARKIN; PARK2

603721 UBIQUITIN-CONJUGATING ENZYME E2L 3; UBE2L3

604148 SOLUTE CARRIER FAMILY 13, MEMBER 2; SLC13A2

604309 SOLUTE CARRIER FAMILY 13, MEMBER 4; SLC13A4

605272 NMYC DOWNSTREAM-REGULATED GENE 2; NDRG2

605284 TUBEROUS SCLEROSIS 1 GENE; TSC1

605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1

Clinical Synopsis for 249100 FAMILIAL MEDITERRANEAN FEVER; FMF

Clinical Synopsis for 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

Clinical Synopsis for 251000 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY

Clinical Synopsis for 252600 MUCOLIPIDOSIS III

August 10, 2001

New Entries:

606188 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 28; ADAM28

606189 CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

113705 BREAST CANCER, TYPE 1; BRCA1

122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

137580 GILLES DE LA TOURETTE SYNDROME; GTS

139320 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE

142240 HEMOGLOBIN--THETA-1 LOCUS; HBQ1

165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA

176807 PROSTATE CANCER

182451 SOMATOSTATIN RECEPTOR 1; SSTR1

182452 SOMATOSTATIN RECEPTOR 2; SSTR2

182455 SOMATOSTATIN RECEPTOR 5; SSTR5

205900 DIAMOND-BLACKFAN ANEMIA; DBA

225280 EEM SYNDROME

231070 GERODERMA OSTEODYSPLASTICA; GO

238300 GLYCINE DECARBOXYLASE; GLDC

238310 AMINOMETHYLTRANSFERASE; AMT

238330 GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH

245480 SPECIFIC GRANULE DEFICIENCY; SGD

250100 METACHROMATIC LEUKODYSTROPHY

278250 WRINKLY SKIN SYNDROME; WSS

300173 MELANOMA ANTIGEN, FAMILY A, 2; MAGEA2

302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

308240 LYMPHOPROLIFERATIVE SYNDROME

600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP

600618 ETS VARIANT GENE 6; ETV6

600749 CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE

601373 CHEMOKINE (C-C) RECEPTOR 5; CCR5

601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A

601559 STUVE-WIEDEMANN SYNDROME

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

601663 ESTROGEN RECEPTOR 2; ESR2

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602109 MATRILIN 3; MATN3

602250 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9

602686 MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG-LIKE 1; MAD1L1

603474 RIBOSOMAL PROTEIN S19; RPS19

603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4

604297 SYNAPTOJANIN 1; SYNJ1

Clinical Synopsis for 133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION

Clinical Synopsis for 216400 COCKAYNE SYNDROME, TYPE I; CKN1

Clinical Synopsis for 277590 WEAVER SYNDROME

August 9, 2001

New Entries:

606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY

606184 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

606185 p53-DEPENDENT DAMAGE-INDUCIBLE NUCLEAR PROTEIN 1

606186 SIAH1-INTERACTING PROTEIN

606187 ALZHEIMER DISEASE 7

Clinical Synopsis for 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2

Changed Entries:

104300 ALZHEIMER DISEASE; AD

109150 MACHADO-JOSEPH DISEASE; MJD

109691 BETA-3-ADRENERGIC RECEPTOR; ADRB3

139250 GROWTH HORMONE 1; GH1

164160 LEPTIN; LEP

179755 RENAL CELL CARCINOMA, PAPILLARY, 1; PRCC

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2

600698 HIGH MOBILITY GROUP PROTEIN ISOFORM I-C; HMGIC

600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1

600848 NUCLEAR RECEPTOR COREPRESSOR 2; NCOR2

601434 S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A

601663 ESTROGEN RECEPTOR 2; ESR2

601713 GLIA MATURATION FACTOR, BETA; GMFB

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

602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP

602510 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, H; PTPRH

603085 SOLUTE CARRIER FAMILY 31, MEMBER 1; SLC31A1

603500 TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN;

604640 HOMEO BOX 11-LIKE 2

605414 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 7; ABCA7

605526 ALZHEIMER DISEASE 6

605849 DIMETHYLGLYCINE DEHYDROGENASE; DMGDH

606163 CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION

Clinical Synopsis for 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

Mini-MIM for 164160 LEPTIN; LEP

August 8, 2001

New Entries:

606177 PARS PLANITIS

606178 HEDGEHOG-INTERACTING PROTEIN

606179 ANEURYSMAL BONE CYSTS

606180 POLYMYOSITIS/SCLERODERMA AUTOANTIGEN 1; PMSCL1

606181 DEAD/H BOX 24; DDX24

606182 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 9; TNFSF9

Changed Entries:

106150 ANGIOTENSIN I; AGT

107741 APOLIPOPROTEIN E; APOE

109135 AXL RECEPTOR TYROSINE KINASE; AXL

118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A

138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR

147280 INSULIN-LIKE GROWTH FACTOR 2 RECEPTOR; IGF2R

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

147570 INTERFERON, GAMMA; IFNG

151430 B-CELL CLL/LYMPHOMA 2; BCL2

154700 MARFAN SYNDROME; MFS

165500 OPTIC ATROPHY 1; OPA1

169550 PELVIS-SHOULDER DYSPLASIA

173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2

176760 PROLACTIN; PRL

176830 PROOPIOMELANOCORTIN; POMC

209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL

220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

228300 FERTILE EUNUCH SYNDROME

228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND

250250 CARTILAGE-HAIR HYPOPLASIA; CHH

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME

252010 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

260660 PELVISCAPULAR DYSPLASIA

269600 SEA-BLUE HISTIOCYTE DISEASE

300100 ADRENOLEUKODYSTROPHY; ALD

600018 OPIOID RECEPTOR, MU-1; OPRM1

600040 BCL2-ASSOCIATED X PROTEIN; BAX

600341 TYRO3 PROTEIN TYROSINE KINASE; TYRO3

600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1

603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE

603827 BCL2-LIKE 11; BCL2L11

604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK

605423 DESERT HEDGEHOG; DHH

605960 POLYMYOSITIS/SCLERODERMA AUTOANTIGEN 2; PMSCL2

Clinical Synopsis for 133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION

Clinical Synopsis for 216400 COCKAYNE SYNDROME, TYPE I; CKN1

August 8, 2001

Changed Entries:

147570 INTERFERON, GAMMA; IFNG

164960 ONCOGENE PIM 1; PIM1

167414 PAIRED BOX GENE 5; PAX5

182115 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 1; PSCD1

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

191092 TUBEROUS SCLEROSIS 2 GENE; TSC2

257220 NIEMANN-PICK DISEASE, TYPE C

261640 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS

308840 L1 CELL ADHESION MOLECULE; L1CAM

309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE

312900 SPASTIC PARAPLEGIA 1, X-LINKED, COMPLICATED; SPG1

313700 ANDROGEN RECEPTOR; AR

600184 CARNITINE ACETYLTRANSFERASE; CRAT

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2

601156 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 11; SCYA11

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

601470 CHEMOKINE (C-X3-C) RECEPTOR 1; CX3CR1

601663 ESTROGEN RECEPTOR 2; ESR2

602037 RAS HOMOLOG GENE FAMILY, MEMBER H; ARHH

604720 TRANSFERRIN RECEPTOR 2; TFR2

Clinical Synopsis for 600184 CARNITINE ACETYLTRANSFERASE; CRAT

August 6, 2001

New Entries:

300352 CREATINE DEFICIENCY SYNDROME, X-LINKED

606175 CARNITINE ACETYLTRANSFERASE DEFICIENCY

Changed Entries:

102579 REPLICATION FACTOR C, 140-KD SUBUNIT; RFC1

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR

147960 KALLIKREIN 2; KLK2

163950 NOONAN SYNDROME 1; NS1

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

176830 PROOPIOMELANOCORTIN; POMC

180200 RETINOBLASTOMA; RB1

184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1

274500 THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIA

274600 PENDRED SYNDROME; PDS

300036 SOLUTE CARRIER FAMILY 6, MEMBER 8; SLC6A8

300168 GLYPICAN 4; GPC4

300352 CREATINE DEFICIENCY SYNDROME, X-LINKED

600184 CARNITINE ACETYLTRANSFERASE; CRAT

600395 GLYPICAN 1; GPC1

600791 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 4; DFNB4

601984 NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4

603009 DYSFERLIN; DYSF

603406 TRANSCRIPTIONAL INTERMEDIARY FACTOR 1; TIF1

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

603545 ENLARGED VESTIBULAR AQUEDUCT SYNDROME

603816 AXIS INHIBITOR 1; AXIN1

604250 HEMOCHROMATOSIS, TYPE 3

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

605732 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 21; TNFRSF21

605910 ANGIOPOIETIN-LIKE 4; ANGPTL4

August 3, 2001

New Entries:

606173 GrpE, E. COLI, HOMOLOG OF

606174 BACULUM DEFICIENCY, CONGENITAL

Changed Entries:

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

133520 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4

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

164761 RET PROTOONCOGENE; RET

177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

219700 CYSTIC FIBROSIS; CF

278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA

278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

313700 ANDROGEN RECEPTOR; AR

600062 RAD23, YEAST, HOMOLOG OF, B; RAD23B

600426 E2F TRANSCRIPTION FACTOR 2; E2F2

600427 E2F TRANSCRIPTION FACTOR 3; E2F3

600659 E2F TRANSCRIPTION FACTOR 4; E2F4

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

600894 G PROTEIN-COUPLED RECEPTOR 9; GPR9

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

601373 CHEMOKINE (C-C) RECEPTOR 5; CCR5

601413 DEIODINASE, IODOTHYRONINE, TYPE II; DIO2

602251 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10, YEAST, HOMOLOG OF;

602746 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14

604572 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY B, MEMBER 1; DNAJB1

606174 BACULUM DEFICIENCY, CONGENITAL

August 2, 2001

New Entries:

606150 FATTY ACID DESATURASE 3; FADS3

606153 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, EPSILON SUBUNIT;

606168 DEAD/H BOX 20; DDX20

606169 METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS

606170 GENITOPATELLAR SYNDROME

Changed Entries:

106165 ANGIOTENSIN RECEPTOR 1; AGTR1

112500 BRACHYDACTYLY, TYPE A1; BDA1

123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

134790 FERRITIN LIGHT CHAIN; FTL

136430 FOLATE RECEPTOR 1, ADULT; FOLR1

142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B

142987 HOMEO BOX D1; HOXD1

143890 HYPERCHOLESTEROLEMIA, FAMILIAL

146930 INTERLEUKIN 8; IL8

164160 LEPTIN; LEP

176930 COAGULATION FACTOR II; F2

186355 SYNDECAN 1; SDC1

186357 SYNDECAN 3; SDC3

186550 SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY

189910 TRANSFER RNA SERINE 2; TRS2

203300 HERMANSKY-PUDLAK SYNDROME; HPS

203500 ALKAPTONURIA

205900 DIAMOND-BLACKFAN ANEMIA; DBA

216400 COCKAYNE SYNDROME, TYPE I; CKN1

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

219700 CYSTIC FIBROSIS; CF

224690 EAR, PATELLA, SHORT STATURE SYNDROME

234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN

309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1

600040 BCL2-ASSOCIATED X PROTEIN; BAX

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600725 SONIC HEDGEHOG; SHH

600726 INDIAN HEDGEHOG; IHH

601482 DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1

601612 LUNG AGENESIS

601688 15-@HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD

602289 DR1-ASSOCIATED PROTEIN 1; DRAP1

604092 TTK PROTEIN KINASE; TTK

604118 RAS PROTEIN ACTIVATOR-LIKE 1; RASAL1

604326 SPINOCEREBELLAR ATAXIA 12; SCA12

605061 TRF2-INTERACTING TELOMERIC PROTEIN

605423 DESERT HEDGEHOG; DHH

605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1

606085 TESTIN; TES

606118 HERMANSKY-PUDLAK SYNDROME GENE 3; HPS3

August 1, 2001

New Entries:

606167 G2 ACCUMULATION PROTEIN

Changed Entries:

106180 ANGIOTENSIN I CONVERTING ENZYME; ACE

115460 CASEIN, BETA; CSN2

168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1

176830 PROOPIOMELANOCORTIN; POMC

179590 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF

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

216400 COCKAYNE SYNDROME, TYPE I; CKN1

307800 HYPOPHOSPHATEMIA, X-LINKED

601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A

602044 UNCOUPLING PROTEIN 3; UCP3

605946 METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE

Clinical Synopsis for 133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION

Clinical Synopsis for 216400 COCKAYNE SYNDROME, TYPE I; CKN1