PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for January, 2002

January 31, 2002

New Entries:

606666 G PROTEIN-COUPLED RECEPTOR 48; GPR48

606667 G PROTEIN-COUPLED RECEPTOR 49; GPR49

606668 INFLAMMATORY BOWEL DISEASE 8

606669 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 5; FXYD5

606670 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 11; PPP1R11

Changed Entries:

117550 SOTOS SYNDROME

131300 CAMURATI-ENGELMANN DISEASE

139320 GNAS COMPLEX LOCUS; GNAS

143100 HUNTINGTON DISEASE; HD

147780 INTERLEUKIN 4; IL4

150240 LAMININ, BETA-1; LAMB1

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

166350 OSSEOUS HETEROPLASIA, PROGRESSIVE

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

179730 RELAXIN 1; RLN1

194072 WAGR SYNDROME

200110 ABLEPHARON-MACROSTOMIA SYNDROME

218330 CRANIOECTODERMAL DYSPLASIA

224690 EAR, PATELLA, SHORT STATURE SYNDROME

225400 EHLERS-DANLOS SYNDROME, TYPE VI

252010 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

258040 OEIS COMPLEX

262850 PLASMIN INHIBITOR DEFICIENCY

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300249 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF,

600057 EXSTROPHY OF BLADDER

600240 G PROTEIN-COUPLED RECEPTOR 2; GPR2

601688 15-@HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD

601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4

602985 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2

603595 CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS

604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1

604833 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 27; SCYA27

605034 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23, YEAST, HOMOLOG OF;

605057 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF,

605058 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 44, YEAST, HOMOLOG OF;

606377 DIMERIC DIHYDRODIOL DEHYDROGENASE; DHDH

606653 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 6

January 31, 2002

New Entries:

606640 AMYOTROPHIC LATERAL SCLEROSIS 6

606641 BODY MASS INDEX

606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7

606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13

606645 CENTAURIN, DELTA-1; CENTD1

606646 CENTAURIN, DELTA-2; CENTD2

606647 ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING

606652 T-CELL IMMUNOGLOBULIN- AND MUCIN-DOMAIN-CONTAINING MOLECULE

606653 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 6

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

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

606656 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2

606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

606658 SPINOCEREBELLAR ATAXIA 15; SCA15

606659 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,

606660 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1

606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2

606662 WAARDENBURG SYNDROME, TYPE IIC

606663 LYSYL OXIDASE-LIKE 2; LOXL2

606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Clinical Synopsis for 606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Changed Entries:

103600 ALBUMIN; ALB

107300 ANTITHROMBIN III DEFICIENCY

146738 INSULIN-LIKE 3; INSL3

155720 MELANOMA, UVEAL

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

176270 PRADER-WILLI SYNDROME; PWS

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

188400 DIGEORGE SYNDROME; DGS

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

192430 VELOCARDIOFACIAL SYNDROME

193500 WAARDENBURG SYNDROME, TYPE I; WS1

193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A

194050 WILLIAMS-BEUREN SYNDROME; WBS

209850 AUTISTIC DISORDER

213600 FAHR DISEASE

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

600140 CREB-BINDING PROTEIN; CREBBP

601990 TUMOR PROTEIN p73; TP73

603749 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2;

604933 MutY, E. COLI, HOMOLOG OF; MUTYH

605290 OPTIC ATROPHY 1 GENE; OPA1

605409 TRANSCRIPTION ELONGATION REGULATOR 1; TCERG1

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

606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1

606628 GLYCINE N-METHYLTRANSFERASE; GNMT

606641 BODY MASS INDEX

606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7

606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13

606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A

606651 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B

606652 T-CELL IMMUNOGLOBULIN- AND MUCIN-DOMAIN-CONTAINING MOLECULE

606656 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2

606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

606660 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1

606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2

606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Clinical Synopsis for 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

Clinical Synopsis for 158300 MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS

Clinical Synopsis for 200990 ACROCALLOSAL SYNDROME; ACLS

Clinical Synopsis for 236680 HYDROLETHALUS SYNDROME

Clinical Synopsis for 251170 MEVALONATE KINASE; MVK

Clinical Synopsis for 606628 GLYCINE N-METHYLTRANSFERASE; GNMT

January 29, 2002

New Entries:

606644 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 8; IGSF8

606648 INTERLEUKIN 22-BINDING PROTEIN

606649 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 3; HIVEP3

606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A

606651 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B

Changed Entries:

103275 ADRENOMEDULLIN; ADM

131240 ENDOTHELIN 1; EDN1

131243 ENDOTHELIN RECEPTOR, TYPE A; EDNRA

131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB

600512 EPILEPSY, PARTIAL, WITH AUDITORY FEATURES; ADPEAF

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

603129 LIM DOMAIN ONLY 4; LMO4

604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1

January 28, 2002

New Entries:

300374 SH3-DOMAIN KINASE-BINDING PROTEIN 1; SH3KBP1

606635 PROTEASE, SERINE, 7; PRSS7

606636 DEATH EFFECTOR FILAMENT-FORMING CED4-LIKE APOPTOSIS PROTEIN

606637 PEPTIDE YY, 2; PYY2

606638 PANCREATIC POLYPEPTIDE 2; PPY2

606639 ELONGATION FACTOR G1

Changed Entries:

142409 HEPATOCYTE GROWTH FACTOR; HGF

146660 INTERLEUKIN 7; IL7

176877 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 3; PTPN3

180469 RIBOSOMAL PROTEIN L36A-LIKE; RPL36AL

226200 ENTEROKINASE DEFICIENCY

276000 PROTEASE, SERINE, 1; PRSS1

300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2

600693 POLYPYRIMIDINE TRACT-BINDING PROTEIN 1; PTBP1

601020 CD86 ANTIGEN; CD86

601023 VALOSIN-CONTAINING PROTEIN; VCP

601417 FabG-LIKE; FABGL

601467 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1

601516 SPLICING FACTOR 1; SF1

601796 TAF4 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

602060 TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2

602590 p21/CDC42/RAC1-ACTIVATED KINASE 1; PAK1

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

603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20

604437 SOLUTE CARRIER FAMILY 38, MEMBER 3; SLC38A3

604815 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 2; LILRB2

604821 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 4; LILRB4

605072 RGS19-INTERACTING PROTEIN 1; RGS19IP1

605180 SOLUTE CARRIER FAMILY 38, AMINO ACID TRANSPORTER, MEMBER 2; SLC38A2

605359 PROLINE-RICH 4; PROL4

605458 INTERLEUKIN 17B RECEPTOR; IL17BR

605981 UBIQUITIN-PROTEIN LIGASE E3-ALPHA; UBR1

606185 TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 1; TP53INP1

606544 ELONGATION FACTOR G2

606605 3-PRIME @REPAIR EXONUCLEASE 1; TREX1

606609 MOVED TO 606605

606635 PROTEASE, SERINE, 7; PRSS7

606636 DEATH EFFECTOR FILAMENT-FORMING CED4-LIKE APOPTOSIS PROTEIN

606637 PEPTIDE YY, 2; PYY2

606638 PANCREATIC POLYPEPTIDE 2; PPY2

January 25, 2002

Changed Entries:

107400 PROTEASE INHIBITOR 1; PI

115470 CAT EYE SYNDROME; CES

142560 HLA-B-ASSOCIATED TRANSCRIPT 1; BAT1

143100 HUNTINGTON DISEASE; HD

146510 PALLISTER-HALL SYNDROME; PHS

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

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

176640 PRION PROTEIN; PRNP

180380 RHODOPSIN; RHO

183600 SPLIT-HAND/FOOT MALFORMATION, TYPE 1; SHFM1

184850 STIFF MAN SYNDROME, HEREDITARY FORM OF

192500 LONG QT SYNDROME 1

229600 FRUCTOSE INTOLERANCE, HEREDITARY

232200 GLYCOGEN STORAGE DISEASE I

243800 JOHANSON-BLIZZARD SYNDROME; JBS

245050 3-@OXOACID CoA TRANSFERASE; OXCT

256500 NETHERTON SYNDROME; NETH

267010 RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

601102 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 2; EIF4A2

601652 MYOCILIN; MYOC

601920 JAGGED 1; JAG1

602570 JAGGED 2; JAG2

602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; MADH7

604378 BECLIN 1; BECN1

605732 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 21; TNFRSF21

606135 KALLIKREIN 14; KLK14

January 24, 2002

New Entries:

606631 CAMURATI-ENGELMANN DISEASE, TYPE II

606632 ODOR, MALE, WOMEN'S CHOICE OF

606633 OSTERIX

606634 DERMCIDIN; DCD

Clinical Synopsis for 606628 GLYCINE N-METHYLTRANSFERASE; GNMT

Changed Entries:

100740 ACETYLCHOLINESTERASE; ACHE

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

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

121010 PRO-PLATELET BASIC PROTEIN; PPBP

125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

131300 CAMURATI-ENGELMANN DISEASE

142967 HOMEO BOX B2; HOXB2

146930 INTERLEUKIN 8; IL8

147310 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 10; SCYB10

164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI

176430 PREMATURE CHROMATID SEPARATION

192500 LONG QT SYNDROME 1

212790 PREMATURE CENTROMERE DIVISION

223000 LACTASE DEFICIENCY, CONGENITAL

223100 HYPOLACTASIA, ADULT TYPE

242650 PRIMARY CILIARY DYSKINESIA; PCD

244400 KARTAGENER SYNDROME

256000 LEIGH SYNDROME; LS

590105 TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV

600835 STROMAL CELL-DERIVED FACTOR 1; SDF1

601181 RAN-BINDING PROTEIN 2; RANBP2

601518 PROSTATE CANCER, HEREDITARY, 1; HPC1

601663 ESTROGEN RECEPTOR 2; ESR2

602620 LEGUMAIN; LGMN

603202 LACTASE; LCT

603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5

604662 CALSENILIN; CSEN

604685 HOMEO BOX A2; HOXA2

604722 SH2 DOMAIN-CONTAINING PROTEIN 3

604852 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 11; SCYB11

605149 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 13; SCYB13

605836 UNC13-LIKE; UNC13

606582 DELTA-LIKE 1; DLL1

606628 GLYCINE N-METHYLTRANSFERASE; GNMT

606631 CAMURATI-ENGELMANN DISEASE, TYPE II

January 23, 2002

New Entries:

300372 MENTAL RETARDATION, X-LINKED NONSPECIFIC, 42; MRX42

300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

606624 NEUROGENIN 2; NEUROG2

606626 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 1

606627 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 2

606628 GLYCINE N-METHYLTRANSFERASE; GNMT

606629 RAB3A-INTERACTING MOLECULE 1

606630 RAB3A-INTERACTING MOLECULE 2

Changed Entries:

107450 INTERFERON, ALPHA, BETA, AND OMEGA, RECEPTOR 1; IFNAR1

107940 ARRESTIN, BETA, 1; ARRB1

114180 CALMODULIN 1; CALM1

142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C

155255 MEDULLOBLASTOMA

166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

176807 PROSTATE CANCER

180435 RIBONUCLEASE L; RNASEL

188840 TITIN; TTN

242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE

300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX

300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

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

601066 OXIDASE, CYTOCHROME c, ASSEMBLY 1-LIKE; OXA1L

601884 HIGH BONE MASS; HBM

602025 OBESITY QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20

602225 CONE-ROD HOMEO BOX-CONTAINING GENE; CRX

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G

604774 ANGIOPOIETIN-LIKE 3; ANGPTL3

605268 JUNCTOPHILIN 3; JPH3

606621 ESTROGEN-RELATED RECEPTOR-BETA-LIKE 1; ESRRBL1

606622 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

606624 NEUROGENIN 2; NEUROG2

January 22, 2002

New Entries:

606623 3-@ALPHA-HYDROXYSTEROID EPIMERASE

606625 CD2-LIKE RECEPTOR ACTIVATING CYTOTOXIC CELLS

Changed Entries:

118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1

121015 GAP JUNCTION PROTEIN, ALPHA-3; GJA3

147570 INTERFERON, GAMMA; IFNG

162200 NEUROFIBROMATOSIS, TYPE I; NF1

164160 LEPTIN; LEP

180240 RETINOIC ACID RECEPTOR, ALPHA; RARA

180245 RETINOID X RECEPTOR, ALPHA; RXRA

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

190170 TRANSFORMING GROWTH FACTOR, ALPHA; TGFA

300008 CHLORIDE CHANNEL 5; CLCN5

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

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

600527 EPHRIN B2; EFNB2

600684 T-LYMPHOCYTE SURFACE ANTIGEN LY-9; LY9

600897 GAP JUNCTION PROTEIN, ALPHA-8; GJA8

600997 EPHRIN RECEPTOR EphB2; EPHB2

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

604167 CCCTC-BINDING FACTOR; CTCF

604895 T-BOX 21; TBX21

605435 PROTEIN KINASE C, MU; PRKCM

606604 F-BOX ONLY PROTEIN 32; FBXO32

January 20, 2002

Changed Entries:

114010 CARBAMOYLPHOSPHATE SYNTHETASE/ASPARTATE TRANSCARBAMOYLASE/DIHYDROOROTASE;

120361 MATRIX METALLOPROTEINASE 9; MMP9

124092 INTERLEUKIN 10; IL10

134350 FACTOR D

136351 FMS-RELATED TYROSINE KINASE 3; FLT3

136352 FMS-LIKE TYROSINE KINASE 4; FLT4

176940 S100 CALCIUM-BINDING PROTEIN A1; S100A1

188060 THROMBOSPONDIN I; THBS1

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

600319 DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4

600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5

600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

600933 COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1

601373 CHEMOKINE (C-C) RECEPTOR 5; CCR5

601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10

602997 CUBILIN; CUBN

603298 PALMITOYL-PROTEIN THIOESTERASE 2; PPT2

603315 NEURONAL CALCIUM SENSOR 1

604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK

January 19, 2002

Changed Entries:

105120 AMYLOIDOSIS V

121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL

136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR

137350 GELSOLIN; GSN

176300 TRANSTHYRETIN; TTR

190120 THYROID HORMONE RECEPTOR, ALPHA-1; THRA

190160 THYROID HORMONE RECEPTOR, BETA; THRB

217300 CORNEA PLANA 2; CNA2

236250 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

300023 GTPase-ACTIVATING PROTEIN, RHO, 4; ARHGAP4

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

601761 CASPASE 7, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP7

603288 KERATOCAN; KERA

January 18, 2002

New Entries:

606622 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

Changed Entries:

120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3

160777 MYOSIN VA; MYO5A

182900 SPHEROCYTOSIS, HEREDITARY; HS

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

212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa

236200 HOMOCYSTINURIA

600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP

601179 RAS-RELATED NUCLEAR PROTEIN; RAN

601212 PROTEIN-TYROSINE KINASE 2, BETA; PTK2B

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603200 REGULATORY FACTOR X, ANKYRIN REPEAT-CONTAINING; RFXANK

604580 FIBULIN 5; FBLN5

606596 FUKUTIN-RELATED PROTEIN

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

January 17, 2002

New Entries:

606619 BETA-GLUCOSIDASE, CYTOSOLIC

606620 B-LYMPHOCYTE ACTIVATOR, MACROPHAGE-EXPRESSED

606621 HIP1 PROTEIN INTERACTOR; HIPPI

Changed Entries:

107265 CD19 ANTIGEN; CD19

147940 ISLET AMYLOID POLYPEPTIDE; IAPP

165120 V-YES-1 YAMAGUCHI SARCOMA VIRAL RELATED ONCOGENE HOMOLOG; LYN

176975 PROTEIN KINASE C, EPSILON; PRKCE

186570 TARSAL-CARPAL COALITION SYNDROME; TCC

192430 VELOCARDIOFACIAL SYNDROME

212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP

257220 NIEMANN-PICK DISEASE, TYPE C

268000 RETINITIS PIGMENTOSA; RP

309900 MUCOPOLYSACCHARIDOSIS TYPE II

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

600953 INTERLEUKIN 18; IL18

600970 MYOSIN VI; MYO6

600988 MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 2; MAN2A2

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

601767 HUNTINGTIN-INTERACTING PROTEIN 1; HIP1

602653 TECTORIN, BETA; TECTB

603298 PALMITOYL-PROTEIN THIOESTERASE 2; PPT2

603377 SOLUTE CARRIER FAMILY 22, MEMBER 5; SLC22A5

603904 INTEGRAL MEMBRANE PROTEIN 2B; ITM2B

604712 RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B

604824 KLOTHO; KL

605550 RAS PROTEIN, DEXAMETHASONE-INDUCED, 1; RASD1

606621 HIP1 PROTEIN INTERACTOR; HIPPI

January 16, 2002

New Entries:

606618 DUAL-SPECIFICITY PHOSPHATASE 14; DUSP14

Changed Entries:

113705 BREAST CANCER, TYPE 1; BRCA1

114080 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV; CAMK4

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

131300 CAMURATI-ENGELMANN DISEASE

138971 COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R

146680 INSULIN-DEGRADING ENZYME; IDE

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

161200 NAIL-PATELLA SYNDROME; NPS

164210 HEMIFACIAL MICROSOMIA; HFM

164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI

177000 PROTOPORPHYRIA, ERYTHROPOIETIC

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

203300 HERMANSKY-PUDLAK SYNDROME; HPS

217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM

300100 ADRENOLEUKODYSTROPHY; ALD

600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1

601403 DEDICATOR OF CYTOKINESIS 1; DOCK1

602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2

602491 HYPERLIPIDEMIA, COMBINED, 1

604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2

604368 GLYCOPROTEIN NMB; GPNMB

604611 RECQ PROTEIN-LIKE 2; RECQL2

604982 HERMANSKY-PUDLAK SYNDROME GENE 1; HPS1

605290 OPTIC ATROPHY 1 GENE; OPA1

605526 ALZHEIMER DISEASE 6

606105 CHOLINE TRANSPORTER-LIKE PROTEIN 1

606191 FORMIN-BINDING PROTEIN 17

606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP

606617 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART

Clinical Synopsis for 241500 HYPOPHOSPHATASIA, INFANTILE

January 15, 2002

New Entries:

606616 DYSLEXIA QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 18

606617 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107710 APOLIPOPROTEIN C-I; APOC1

125660 DESMIN; DES

139900 HANDEDNESS

142959 HOMEO BOX A13; HOXA13

151410 BREAKPOINT CLUSTER REGION; BCR

164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

234300 HALO NEVI

251170 MEVALONATE KINASE; MVK

253260 BIOTINIDASE; BTD

260920 HYPER-IgD SYNDROME; HIDS

300183 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED; INVM

302060 BARTH SYNDROME; BTHS

308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1

314850 KELL BLOOD GROUP PRECURSOR; XK

600020 MAX-INTERACTING PROTEIN 1; MXI1

600202 DYSLEXIA, SPECIFIC, 2; DYX2

601199 CALCIUM-SENSING RECEPTOR; CASR

601239 DYSTROBREVIN, ALPHA; DTNA

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602358 HYPOCRETIN; HCRT

602851 MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1

603576 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1;

603749 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2;

604169 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL

604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME; BACE

604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5;

606569 SUPPRESSOR OF ACTIN MUTATIONS 1-LIKE; SACM1L

606616 DYSLEXIA QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 18

606617 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART

Clinical Synopsis for 147920 KABUKI SYNDROME

Clinical Synopsis for 183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE

Clinical Synopsis for 218800 CRIGLER-NAJJAR SYNDROME

Clinical Synopsis for 229850 FRYNS SYNDROME; FRNS

Clinical Synopsis for 241500 HYPOPHOSPHATASIA, INFANTILE

Clinical Synopsis for 241510 HYPOPHOSPHATASIA, CHILDHOOD

January 14, 2002

New Entries:

300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2

606596 FUKUTIN-RELATED PROTEIN

606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1

606610 p47, RAT, HOMOLOG OF

606611 DEFENSIN, BETA, 3; DEFB3

606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

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

606615 HYPOXIA-INDUCIBLE FACTOR 1-ALPHA INHIBITOR; HIF1AN

Changed Entries:

109400 BASAL CELL NEVUS SYNDROME; BCNS

120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1

126110 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ARNT

133239 ESOPHAGEAL CANCER

134797 FIBRILLIN 1; FBN1

135150 BIRT-HOGG-DUBE SYNDROME; BHD

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

193300 VON HIPPEL-LINDAU SYNDROME; VHL

208900 ATAXIA-TELANGIECTASIA; AT

222600 DIASTROPHIC DYSPLASIA

242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1

256550 NEURAMINIDASE DEFICIENCY

275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION

600034 EMPTY SPIRACLES, DROSOPHILA, HOMOLOG OF, 1; EMX1

601210 POLY(rC)-BINDING PROTEIN 2; PCBP2

601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH

602900 DNA METHYLTRANSFERASE 3B; DNMT3B

603673 PATCHED, DROSOPHILA, HOMOLOG OF, 2; PTCH2

604316 PSORIASIS SUSCEPTIBILITY 5; PSORS5

604610 RECQ PROTEIN-LIKE 3; RECQL3

604653 SOLUTE CARRIER FAMILY 11, MEMBER 3; SLC11A3

604780 COMPARATIVE GENE IDENTIFICATION 58

605462 BASAL CELL CARCINOMA, MULTIPLE

605602 MYOZENIN 2; MYOZ2

605603 MYOZENIN 1; MYOZ1

606069 HEMOCHROMATOSIS, AUTOSOMAL DOMINANT

606551 LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 1; LZTS1

606560 SPERM-ASSOCIATED ANTIGEN 11; SPAG11

606607 PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7

606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

606615 HYPOXIA-INDUCIBLE FACTOR 1-ALPHA INHIBITOR; HIF1AN

January 11, 2002

New Entries:

606606 SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA

606607 PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7

Changed Entries:

102300 ACROMELALGIA, HEREDITARY

102670 MUCOSAL VASCULAR ADDRESSIN CELL ADHESION MOLECULE 1; MADCAM1

102680 ADDUCIN 1; ADD1

144700 RENAL CELL CARCINOMA 1; RCC1

145500 HYPERTENSION, ESSENTIAL

156535 METHYL-CpG-BINDING DOMAIN PROTEIN 1; MBD1

162200 NEUROFIBROMATOSIS, TYPE I; NF1

162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL

176270 PRADER-WILLI SYNDROME; PWS

176640 PRION PROTEIN; PRNP

177061 MYRISTOYLATED ALANINE-RICH PROTEIN KINASE C SUBSTRATE; MARCKS

181500 SCHIZOPHRENIA; SCZD

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

229250 FREESIA FLOWERS, INABILITY TO SMELL

235730 HIRSCHSPRUNG DISEASE SYNDROME

243305 INVERSIN

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE

600807 ASTHMA

601466 PATENT DUCTUS VENOSUS; PDV

601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15

602146 LIM HOMEO BOX GENE 4

602544 PARKIN; PARK2

603218 HUNTINGTON DISEASE-LIKE 1; HDL1

603277 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 4; CHD4

603526 METASTASIS-ASSOCIATED GENE 1; MTA1

603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2

603573 METHYL-CpG-BINDING DOMAIN PROTEIN 3; MBD3

603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4

603947 METASTASIS-ASSOCIATED 1-LIKE 1; MTA1L1

604277 SPASTIC PARAPLEGIA 4 GENE; SPG4

604442 NONPAPILLARY RENAL CARCINOMA 1

605262 NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1

605286 CALPAIN 10; CAPN10

605802 ZINC FINGER HOMEO BOX 1B; ZFHX1B

606201 WOLFRAM SYNDROME GENE 1; WFS1

Clinical Synopsis for 269000 SC PHOCOMELIA SYNDROME

Clinical Synopsis for 277720 WHISTLING FACE SYNDROME, RECESSIVE FORM

Clinical Synopsis for 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

Clinical Synopsis for 308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB

January 10, 2002

New Entries:

606604 F-BOX ONLY PROTEIN 32; FBXO32

606605 ATR-INTERACTING PROTEIN; ATRIP

Clinical Synopsis for 269921 SIALURIA

Clinical Synopsis for 602398 DESMOSTEROLOSIS

Clinical Synopsis for 604369 SIALURIA, FINNISH TYPE

Changed Entries:

105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM

105550 AMYOTROPHIC LATERAL SCLEROSIS WITH FRONTOTEMPORAL DEMENTIA

107269 CD44 ANTIGEN; CD44

108300 STICKLER SYNDROME, TYPE I; STL1

118503 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3

140300 HASHIMOTO STRUMA

142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA

147576 INTERFERON REGULATORY FACTOR 2; IRF2

147760 INTERLEUKIN 1-ALPHA; IL1A

157129 MICROTUBULE-ASSOCIATED PROTEIN 1B; MAP1B

158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1

166490 SECRETED PHOSPHOPROTEIN 1; SPP1

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

194050 WILLIAMS-BEUREN SYNDROME; WBS

221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE

236200 HOMOCYSTINURIA

269921 SIALURIA

309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1

561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1

600274 FRONTOTEMPORAL DEMENTIA

601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP

601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR

602204 BICAUDAL-D, DROSOPHILA, HOMOLOG OF, 1; BICD1

602398 DESMOSTEROLOSIS

603680 SPINOCEREBELLAR ATAXIA 8; SCA8

603903 SICKLE CELL ANEMIA

604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1

604215 INHIBITOR OF GROWTH 1-LIKE; ING1L

604221 ACTIN-RELATED PROTEIN 2; ACTR2

604222 ACTIN-RELATED PROTEIN 3; ACTR3

604223 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1B; ARPC1B

604224 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 2; ARPC2

604225 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 3; ARPC3

604226 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 4; ARPC4

604227 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 5; ARPC5

604326 SPINOCEREBELLAR ATAXIA 12; SCA12

604336 TRANSMEMBRANE PHOSPHATASE WITH TENSIN HOMOLOGY; TPTE

604369 SIALURIA, FINNISH TYPE

605820 NONAKA MYOPATHY; NM

606131 RING FINGER PROTEIN 28; RNF28

606604 F-BOX ONLY PROTEIN 32; FBXO32

Clinical Synopsis for 215140 CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE

Clinical Synopsis for 253300 SPINAL MUSCULAR ATROPHY I; SMA1

Clinical Synopsis for 269000 SC PHOCOMELIA SYNDROME

Clinical Synopsis for 269920 INFANTILE SIALIC ACID STORAGE DISORDER

Clinical Synopsis for 277720 WHISTLING FACE SYNDROME, RECESSIVE FORM

Clinical Synopsis for 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Clinical Synopsis for 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

Clinical Synopsis for 308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB

January 9, 2002

New Entries:

606600 RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 1; RASGRF1

606601 ENDOGENOUS RETROVIRAL SEQUENCE E, 1; ERVE1

606602 BRAIN AND ACUTE LEUKEMIA GENE, CYTOPLASMIC; BAALC

606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD

Changed Entries:

102776 ADENOSINE A2 RECEPTOR; ADORA2A

104614 SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1

120700 COMPLEMENT COMPONENT 3; C3

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

139320 GNAS COMPLEX LOCUS; GNAS

142870 REMOVED FROM DATABASE

146660 INTERLEUKIN 7; IL7

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

165120 V-YES-1 YAMAGUCHI SARCOMA VIRAL RELATED ONCOGENE HOMOLOG; LYN

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176300 TRANSTHYRETIN; TTR

176807 PROSTATE CANCER

182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1

190170 TRANSFORMING GROWTH FACTOR, ALPHA; TGFA

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

224900 ECTODERMAL DYSPLASIA, ANHIDROTIC

238600 HYPERLIPOPROTEINEMIA, TYPE I

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

300346 HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1

314850 KELL BLOOD GROUP PRECURSOR; XK

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600340 PLASMOLIPIN; PMLP

600551 G PROTEIN-COUPLED RECEPTOR 4; GPR4

600635 THYROID TRANSCRIPTION FACTOR 1; TITF1

601504 SEC14, S. CEREVISIAE, HOMOLOG-LIKE 1; SEC14L1

601566 INHIBITOR OF GROWTH 1; ING1

601711 TNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1

602053 CORE PROMOTER ELEMENT-BINDING PROTEIN; COPEB

602225 CONE-ROD HOMEO BOX-CONTAINING GENE; CRX

602506 CYCLIN T1; CCNT1

602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1

603251 CYCLIN-DEPENDENT KINASE 9; CDK9

604215 INHIBITOR OF GROWTH 1-LIKE; ING1L {Alternative titles; symbols> p33ING2

604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14

604772 VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC

605902 STRESSCOPIN-RELATED PEPTIDE

606496 INTERLEUKIN 17F; IL17F

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

606602 BRAIN AND ACUTE LEUKEMIA GENE, CYTOPLASMIC; BAALC

Clinical Synopsis for 253300 SPINAL MUSCULAR ATROPHY I; SMA1

Clinical Synopsis for 253400 SPINAL MUSCULAR ATROPHY III; SMA3

Clinical Synopsis for 253550 SPINAL MUSCULAR ATROPHY II; SMA2

January 8, 2002

Changed Entries:

104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3

136533 FORKHEAD BOX O1A; FOXO1A

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

142695 HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN; HDLBP

143070 REMOVED FROM DATABASE

143080 REMOVED FROM DATABASE

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

164950 FIBROBLAST GROWTH FACTOR 3; FGF3

167416 PAIRED BOX GENE 9; PAX9

171740 ALKALINE PHOSPHATASE, INTESTINAL; ALPI

172800 PIEBALD TRAIT; PBT

193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A

194070 WILMS TUMOR 1; WT1

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600025 KINESIN 2; KNS2

600193 WAARDENBURG SYNDROME, TYPE IIB; WS2B

600237 HISTONE CELL CYCLE REGULATION DEFECTIVE, S. CEREVISIAE, HOMOLOG OF,

600535 MESENCHYME HOMEO BOX 2; MEOX2

601023 VALOSIN-CONTAINING PROTEIN; VCP

601635 NEURAL TUBE DEFECT, FOLATE-RESISTANT

601772 H2AX HISTONE; H2AX

602504 SHORT STATURE HOMEO BOX 2; SHOX2

602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FKHRL1

602809 KINESIN FAMILY MEMBER 5B; KIF5B

604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME; BACE

604255 LADY BIRD LATE, DROSOPHILA, HOMOLOG OF, 1

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605350 T-CELL CYTOKINE RECEPTOR

January 8, 2002

New Entries:

606590 NPL4, S. CEREVISIAE, HOMOLOG OF

606591 MUS81, YEAST, HOMOLOG OF

606593 LIG4 SYNDROME

606594 SET DOMAIN-CONTAINING PROTEIN 7

606595 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, F

606597 PAIRED BOX GENE 3; PAX3

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP

Changed Entries:

100070 ABDOMINAL AORTIC ANEURYSM

100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY

108400 REMOVED FROM DATABASE

109700 BETA-2-MICROGLOBULIN; B2M

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

113730 UNCOUPLING PROTEIN 1; UCP1

119100 CLEFT HAND AND ABSENT TIBIA

120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3

122470 CORNELIA DE LANGE SYNDROME 1; CDL1

122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS

125264 DEK ONCOGENE; DEK

131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB

132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1

135600 FIBRONECTIN 1; FN1

136533 FORKHEAD BOX O1A; FOXO1A

137350 GELSOLIN; GSN

142410 TRANSCRIPTION FACTOR 1; TCF1

142963 HOMEO BOX B8; HOXB8

143100 HUNTINGTON DISEASE; HD

147796 JANUS KINASE 2; JAK2

148820 KLEIN-WAARDENBURG SYNDROME

155555 MELANOCORTIN 1 RECEPTOR; MC1R

158250 MOSAICISM, CHROMOSOMAL

161560 INTERLEUKIN 12A; IL12A

161561 INTERLEUKIN 12B; IL12B

162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB

163729 NITRIC OXIDE SYNTHASE 3; NOS3

163950 NOONAN SYNDROME 1; NS1

165161 ONCOGENE JUN-B; JUNB

165340 SKI-LIKE; SKIL

167410 PAIRED BOX GENE 7; PAX7

167414 PAIRED BOX GENE 5; PAX5

172400 GLUCOSE-6-PHOSPHATE ISOMERASE; GPI

173360 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1

176730 INSULIN; INS

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

176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1

178990 MATRIX METALLOPROTEINASE 7; MMP7

180300 RHEUMATOID ARTHRITIS

180860 RUSSELL-SILVER SYNDROME; RSS

182450 SOMATOSTATIN; SST

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

191160 TUMOR NECROSIS FACTOR; TNF

191170 TUMOR PROTEIN p53; TP53

193500 WAARDENBURG SYNDROME, TYPE I; WS1

202650 DYSGNATHIA COMPLEX

208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN

211980 LUNG CANCER

212750 CELIAC DISEASE; CD

218600 CRANIOSYNOSTOSIS WITH RADIAL DEFECTS

248310 MALARIA, INTENSITY OF INFECTION IN

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

251170 MEVALONATE KINASE; MVK

268220 RHABDOMYOSARCOMA 2; RMS2

278000 WOLMAN DISEASE

278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

300000 OPITZ SYNDROME

300273 GOITER, MULTINODULAR 2; MNG2

300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA

305371 GATA-BINDING PROTEIN 1; GATA1

306700 HEMOPHILIA A

309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1

309860 MONOAMINE OXIDASE B; MAOB

313900 THROMBOCYTOPENIA 1; THC1

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

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

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

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

600822 TAF9 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

601128 H3 HISTONE, FAMILY 3A; H3F3A

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601250 PEPTIDE METHIONINE SULFOXIDE REDUCTASE; MSRA

601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; MADH2

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

601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1

601595 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 1; MADH1

601622 TWIST, DROSOPHILA, HOMOLOG OF; TWIST

601642 INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2

601693 UNCOUPLING PROTEIN 2; UCP2

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4

602044 UNCOUPLING PROTEIN 3; UCP3

602109 MATRILIN 3; MATN3

602229 SRY-BOX 10; SOX10

602812 H3 HISTONE FAMILY, MEMBER C; H3FC

603065 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 2; NR1I2

603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6

603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,

603517 B-CELL CLL/LYMPHOMA 10; BCL10

604257 CAMERA-MARUGO-COHEN SYNDROME

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

604661 Kv CHANNEL-INTERACTING PROTEIN 2; KCNIP2

604683 KINESIN FAMILY MEMBER 3A; KIF3A

604964 SHP2-INTERACTING TRANSMEMBRANE ADAPTOR PROTEIN

605227 REVERSION-INDUCING CYSTEINE-RICH PROTEIN WITH KAZAL MOTIFS; RECK

605514 PROTOCADHERIN 15; PCDH15

606082 GOITER, MULTINODULAR 3; MNG3

606264 LECTIN, C-TYPE, SUPERFAMILY MEMBER 12; CLECSF12

606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7

606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY

606584 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 23; PTPN23

606593 LIG4 SYNDROME

606595 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, F

Clinical Synopsis for 108400 REMOVED FROM DATABASE

Clinical Synopsis for 176730 INSULIN; INS

Clinical Synopsis for 202650 DYSGNATHIA COMPLEX

Clinical Synopsis for 243305 INVERSIN

Clinical Synopsis for 268300 ROBERTS SYNDROME; RBS

Clinical Synopsis for 270200 SJOGREN-LARSSON SYNDROME

Clinical Synopsis for 271900 CANAVAN DISEASE

Clinical Synopsis for 300322 LESCH-NYHAN SYNDROME; LNS

January 2, 2002

New Entries:

606588 DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L

606589 SORTING NEXIN 13

Changed Entries:

107776 AQUAPORIN 1; AQP1

111680 RHESUS BLOOD GROUP, D ANTIGEN; RHD

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

114290 CAMPOMELIC DYSPLASIA

119100 CLEFT HAND AND ABSENT TIBIA

130160 ELASTIN; ELN

152430 LONGEVITY

160000 MYOGLOBIN; MB

165500 OPTIC ATROPHY 1; OPA1

181500 SCHIZOPHRENIA; SCZD

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

194355 X BOX-BINDING PROTEIN 1; XBP1

252800 MUCOPOLYSACCHARIDOSIS TYPE I

253270 MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD

265380 PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN

266270 RAMON SYNDROME

300100 ADRENOLEUKODYSTROPHY; ALD

302060 BARTH SYNDROME; BTHS

306900 HEMOPHILIA B; HEMB

312610 RETINITIS PIGMENTOSA 3; RP3

516001 COMPLEX I, SUBUNIT ND2; MTND2

600173 JANUS KINASE 3; JAK3

601029 MESODERM-SPECIFIC TRANSCRIPT, MOUSE, HOMOLOG OF; MEST

601105 CATHEPSIN K; CTSK

601132 KINASE SUPPRESSOR OF RAS; KSR

601281 SEMAPHORIN 3B; SEMA3B

601689 TAF4B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB

602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA

602666 MYOSIN XVA; MYO15A

602678 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3

603861 SOLUTE CARRIER FAMILY 25, MEMBER 15; SLC25A15

603903 SICKLE CELL ANEMIA

603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1

604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1

604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1

604958 BRG1-ASSOCIATED FACTOR, 53-KD

605070 EARLY ENDOSOME ANTIGEN 1; EEA1

605290 OPTIC ATROPHY 1 GENE; OPA1

605995 KINESIN FAMILY MEMBER 1B; KIF1B

606036 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR 2; ARNT2

606047 IMMUNOGLOBULIN-LIKE TRANSCRIPT 11

606412 BSND GENE

606580 OPTIC ATROPHY 3 GENE; OPA3

606583 PEROXIREDOXIN 5; PRDX5

Clinical Synopsis for 268300 ROBERTS SYNDROME; RBS