PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for June, 2004

June 30, 2004

New Entries:

300484 OROFACIODIGITAL SYNDROME VIII

300493 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER

500002 MITOCHONDRIAL MYOPATHY WITH DIABETES

608518 OROFACIODIGITAL SYNDROME VII

608767 FEM1, C. ELEGANS, HOMOLOG OF, C; FEM1C

Changed Entries:

109400 BASAL CELL NEVUS SYNDROME; BCNS

109900 BLEPHAROCHALASIS AND DOUBLE LIP

118450 ALAGILLE SYNDROME; AGS

118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE

120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

124000 CYTOCHROME-RELATED DISEASE OF MUSCLE AND NERVOUS SYSTEM

134570 FACTOR XIII, A1 SUBUNIT; F13A1

142956 HOMEOBOX A9; HOXA9

157650 MOVED TO 500002

165590 OROFACIODIGITAL SYNDROME X

174300 OROFACIODIGITAL SYNDROME V

190100 GENIOSPASM 1; GSM1

214100 ZELLWEGER SYNDROME; ZS

220150 HYPOURICEMIA, RENAL

225320 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM

235200 HEMOCHROMATOSIS; HFE

252100 MOHR SYNDROME

258850 OROFACIODIGITAL SYNDROME III

258860 OROFACIODIGITAL SYNDROME IV

258865 OROFACIODIGITAL SYNDROME IX

266510 REFSUM DISEASE, INFANTILE FORM

271900 CANAVAN DISEASE

277170 VARADI-PAPP SYNDROME

300156 CANCER/TESTIS ANTIGEN 1B; CTAG1B

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

311200 OROFACIODIGITAL SYNDROME I; OFD1

590025 TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE

600225 GTP CYCLOHYDROLASE I; GCH1

602218 SAL-LIKE 1; SALL1

605262 NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1

605494 INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP

606347 PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 1; PSTPIP1

606415 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH

607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12

608034 ASPARTOACYLASE; ASPA

608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV

608666 PEROXISOME BIOGENESIS FACTOR 26; PEX26

Clinical Synopsis for 271530 SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA

Clinical Synopsis for 271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE

Clinical Synopsis for 302350 CATARACT-DENTAL SYNDROME

June 29, 2004

New Entries:

608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE

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

608766 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1B; LRP1B

Changed Entries:

107480 TOWNES-BROCKS SYNDROME; TBS

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

124092 INTERLEUKIN 10; IL10

130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED

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

142705 HISTIDINE-RICH CALCIUM-BINDING PROTEIN; HRC

163910 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2; HMGN2

176797 ZINC FINGER PROTEIN 145; ZNF145

180300 RHEUMATOID ARTHRITIS; RA

184450 STUTTERING, FAMILIAL PERSISTENT

238600 HYPERLIPOPROTEINEMIA, TYPE I

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5

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

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601642 INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

602218 SAL-LIKE 1; SALL1

602431 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2

603746 SLIT, DROSOPHILA, HOMOLOG OF, 2; SLIT2

604502 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 3; HMGN3

606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2

606582 DELTA-LIKE 1; DLL1

607416 CHL1, MOUSE, HOMOLOG OF; CHL1

608014 HEAT-SHOCK 22-KD PROTEIN 8; HSPB8

608685 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 2; SMC1L2

June 28, 2004

Changed Entries:

109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1

109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2

112500 BRACHYDACTYLY, TYPE A1; BDA1

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

123831 CYCLIN-DEPENDENT KINASE 5; CDK5

133170 ERYTHROPOIETIN; EPO

140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA

150330 LAMIN A/C; LMNA

151623 LI-FRAUMENI SYNDROME; LFS

168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

176705 PROHIBITIN; PHB

176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA

179511 RAS-ASSOCIATED PROTEIN RAB4; RAB4

193300 VON HIPPEL-LINDAU SYNDROME; VHL

207410 ANTLEY-BIXLER SYNDROME; ABS

211400 BRONCHIECTASIS

232200 GLYCOGEN STORAGE DISEASE I

273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI

300377 DYSTROPHIN; DMD

598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM

600140 CREB-BINDING PROTEIN; CREBBP

600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

600726 INDIAN HEDGEHOG; IHH

601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT

602055 INSULIN-INDUCED GENE 1; INSIG1

602229 SRY-BOX 10; SOX10

602264 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN; SPOCK

603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A

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

605321 FRONTOOCULAR SYNDROME

605342 PAIRED IMMUNOGLOBULIN-LIKE RECEPTOR, BETA

605476 CENTAURIN, GAMMA-1; CENTG1

605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15

606201 WFS1 GENE; WFS1

607417 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 2A; MRT2A

607657 CYSTATHIONINE GAMMA-LYASE; CTH

608660 INSULIN-INDUCED GENE 2; INSIG2

June 25, 2004

Changed Entries:

104311 PRESENILIN 1; PSEN1

105650 DIAMOND-BLACKFAN ANEMIA, AUTOSOMAL DOMINANT

106210 ANIRIDIA, TYPE II; AN2

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

156600 MICROCORIA, CONGENITAL

166200 OSTEOGENESIS IMPERFECTA, TYPE I

171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2

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

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB

217050 COMPLEMENT COMPONENT 6 DEFICIENCY

232500 GLYCOGEN STORAGE DISEASE IV

273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI

300500 ALBINISM, OCULAR, TYPE I; OA1

311850 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1

600159 PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES

601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS

602080 PAGET DISEASE OF BONE; PDB

602544 PARKIN; PARK2

602953 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 1; HEY1

604674 CARDIOVASCULAR BASIC-LOOP-HELIX FACTOR; CHF1

605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B

606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP

607352 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 2; RHOBTB2

607397 MELANOCORTIN 2 RECEPTOR; MC2R

608102 CLN5 GENE; CLN5

608287 PROTOCADHERIN 18; PCDH18

608741 SYNAPTOTAGMIN 11; SYT11

608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY

608761 SOLUTE CARRIER FAMILY 5 (CHOLINE TRANSPORTER), MEMBER 7; SLC5A7

Clinical Synopsis for 273395 TETRA-AMELIA, AUTOSOMAL RECESSIVE

June 24, 2004

New Entries:

608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY

608752 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 5; C1QTNF5

Clinical Synopsis for 300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA

Clinical Synopsis for 602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL

Clinical Synopsis for 605627 CEREBROOCULONASAL SYNDROME

Changed Entries:

102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

120520 MEMBRANE METALLOENDOPEPTIDASE; MME

142711 HISTONE 1, H1B; HIST1H1B

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

142986 HOMEOBOX D11; HOXD11

142988 HOMEOBOX D12; HOXD12

146680 INSULIN-DEGRADING ENZYME; IDE

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

147683 INTERLEUKIN 13; IL13

149100 KNUCKLE PADS

159970 MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1

243095 MOVED TO 270450

265850 PYGMY

270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO

600725 SONIC HEDGEHOG; SHH

601416 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER) MEMBER 7

602341 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16

602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL

605627 CEREBROOCULONASAL SYNDROME

605670 LATE-ONSET RETINAL DEGENERATION; LORD

606080 ACIDIC MAMMALIAN CHITINASE

Clinical Synopsis for 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE

Clinical Synopsis for 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,

Clinical Synopsis for 145001 HYPERPARATHYROIDISM 2; HRPT2

Clinical Synopsis for 147891 SMALL PATELLA SYNDROME; SPS

Clinical Synopsis for 168860 PATELLA APLASIA-HYPOPLASIA; PTLAH

Clinical Synopsis for 194350 WT LIMB-BLOOD SYNDROME

Clinical Synopsis for 249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Clinical Synopsis for 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME

Clinical Synopsis for 273395 TETRA-AMELIA, AUTOSOMAL RECESSIVE

Clinical Synopsis for 605670 LATE-ONSET RETINAL DEGENERATION; LORD

June 23, 2004

New Entries:

608761 SOLUTE CARRIER FAMILY 5 (CHOLINE TRANSPORTER), MEMBER 7; SLC5A7

Changed Entries:

100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

113650 BRANCHIOOTORENAL DYSPLASIA

118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1

121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1

121201 EPILEPSY, BENIGN NEONATAL, 2; EBN2

151210 THANATOPHORIC DYSPLASIA VARIANTS

176640 PRION PROTEIN; PRNP

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

182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA-1 SUBUNIT; SCN2A1

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

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

261100 MEGALOBLASTIC ANEMIA 1; MGA1

261640 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS

269720 EPILEPSY, BENIGN NEONATAL, AUTOSOMAL RECESSIVE

300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA

309900 MUCOPOLYSACCHARIDOSIS TYPE II

600173 JANUS KINASE 3; JAK3

600705 SATOYOSHI SYNDROME

600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE

601093 FORKHEAD BOX I1; FOXI1

601653 EYES ABSENT 1; EYA1

601764 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1

602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;

602081 SPECIFIC LANGUAGE IMPAIRMENT; SLI

602232 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3; KCNQ3

602997 CUBILIN; CUBN

603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB

604018 NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL

605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B

605751 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2

605799 AMNIONLESS, MOUSE, HOMOLOG OF; AMN

606052 MOVED TO 607745

606711 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

606712 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

607134 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS

607745 SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE

607939 SULFATASE-MODIFYING FACTOR 1

608630 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 3; ROBO3

608662 TRANSMEMBRANE PROTEIN 16E; TMEM16E

Clinical Synopsis for 304110 CRANIOFRONTONASAL SYNDROME; CFNS

Clinical Synopsis for 601216 PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA

Clinical Synopsis for 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS

June 22, 2004

New Entries:

608748 BONE MORPHOGENETIC PROTEIN 10; BMP10

608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4

608750 ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3

608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8

608753 SEN2, YEAST, HOMOLOG OF

608754 LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5

608755 SEN54, YEAST, HOMOLOG OF

608756 SEN15, YEAST, HOMOLOG OF

608757 CLP1, YEAST, HOMOLOG OF

608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10

608759 CYTOGLOBIN; CYGB

608760 APG7-LIKE; APG7L

Clinical Synopsis for 608703 SPINOCEREBELLAR ATAXIA 25; SCA25

Clinical Synopsis for 608709 BARRAQUER-SIMONS SYNDROME

Changed Entries:

102577 ACTIVATOR 1, 37-KD SUBUNIT; RFC4

102579 REPLICATION FACTOR C, 140-KD SUBUNIT; RFC1

102990 MOVED TO 145600

104175 GLYCOPROTEIN ALPHA-GALACTOSYLTRANSFERASE 1; GGTA1

109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1

112410 HYPERTENSION WITH BRACHYDACTYLY

116955 ZINC FINGER PROTEIN 9; ZNF9

118480 MOVED TO 134634

120361 MATRIX METALLOPROTEINASE 9; MMP9

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

134629 FARNESYL DIPHOSPHATE SYNTHASE; FDPS

134631 MOVED TO 134629

134632 MOVED TO 134629

134633 FARNESYLPYROPHOSPHATE SYNTHETASE 3; FPSL3

134634 FARNESYL DIPHOSPHATE SYNTHASE-LIKE 4; FDPSL4

138033 GLUCAGON RECEPTOR; GCGR

143100 HUNTINGTON DISEASE; HD

151680 MOVED TO 269880

154550 MANNOSEPHOSPHATE ISOMERASE; MPI

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

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

164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD

176730 INSULIN; INS

176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA

191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO

210300 MOVED TO 201300

270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

272500 MOVED TO 269700

300307 T-BOX 22; TBX22

302920 MOVED TO 305425

303400 CLEFT PALATE, X-LINKED; CPX

305425 FARNESYL DIPHOSPHATE SYNTHASE-LIKE 5; FDPSL5

313700 ANDROGEN RECEPTOR; AR

600404 REPLICATION FACTOR C, SUBUNIT 2; RFC2

600405 REPLICATION FACTOR C, SUBUNIT 3; RFC3

600441 GROWTH ARREST-SPECIFIC 6; GAS6

600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E

600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A

601091 FORKHEAD BOX D1; FOXD1

601092 FORKHEAD BOX D4; FOXD4

601093 FORKHEAD BOX I1; FOXI1

601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id

601113 HEAT-SHOCK 70-KD PROTEIN 4; HSPA4

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

601933 CRYPTOCHROME 1; CRY1

602021 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A

602544 PARKIN; PARK2

602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib

603252 FORKHEAD BOX L1; FOXL1

603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS

604146 SYNAPTOTAGMIN 7; SYT7

604378 BECLIN 1; BECN1

604479 SIRTUIN 1; SIRT1

605346 MOVED TO 176730

605747 ARH GENE; ARH

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

606463 GLUCOSIDASE, ACID BETA; GBA

606989 MYELOPEROXIDASE; MPO

607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL

608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25

608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1

608741 SYNAPTOTAGMIN 11; SYT11

608754 LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5

608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10

608760 APG7-LIKE; APG7L

Clinical Synopsis for 102990 MOVED TO 145600

Clinical Synopsis for 127750 DEMENTIA, LEWY BODY; DLB

Clinical Synopsis for 151680 MOVED TO 269880

Clinical Synopsis for 172700 PICK DISEASE OF BRAIN

Clinical Synopsis for 210300 MOVED TO 201300

Clinical Synopsis for 272500 MOVED TO 269700

Clinical Synopsis for 302920 MOVED TO 305425

Clinical Synopsis for 305425 FARNESYL DIPHOSPHATE SYNTHASE-LIKE 5; FDPSL5

Clinical Synopsis for 600072 FAMILIAL FATAL INSOMNIA; FFI

Clinical Synopsis for 600274 FRONTOTEMPORAL DEMENTIA

Clinical Synopsis for 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id

June 18, 2004

New Entries:

608744 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER),

608745 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER),

608746 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER),

Changed Entries:

107680 APOLIPOPROTEIN A-I; APOA1

120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1

146930 INTERLEUKIN 8; IL8

147050 IgE RESPONSIVENESS, ATOPIC; IGER

151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR

155950 MELORHEOSTOSIS

191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1

254780 MYOCLONIC EPILEPSY OF LAFORA

300490 SH2 DOMAIN PROTEIN 1A; SH2D1A

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

600296 NATRIURETIC PEPTIDE PRECURSOR C; NPPC

600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST

600807 ASTHMA SUSCEPTIBILITY

600970 MYOSIN VI; MYO6

601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11

602322 TELOMERASE RNA COMPONENT; TERC

602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24

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

606158 BSCL2 GENE; BSCL2

608552 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B; VPS33B

608623 NEUROECTODERMAL TUMORS, SUPRATENTORIAL PRIMITIVE, WITH CAFE-AU-LAIT

June 17, 2004

New Entries:

300498 MENTAL RETARDATION, X-LINKED 45; MRX45

608740 CALCINEURIN- AND NFAT-ACTIVATING ITAM-CONTAINING PROTEIN

608741 SYNAPTOTAGMIN 11; SYT11

608742 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4

608743 JP45, MOUSE, HOMOLOG OF

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1

112203 CD80 ANTIGEN; CD80

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

145500 HYPERTENSION, ESSENTIAL

163890 SYNUCLEIN, ALPHA; SNCA

168600 PARKINSON DISEASE; PD

171760 ALKALINE PHOSPHATASE, LIVER; ALPL

176807 PROSTATE CANCER

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

208400 ASPARTYLGLUCOSAMINURIA

210900 BLOOM SYNDROME; BLM

300498 MENTAL RETARDATION, X-LINKED 45; MRX45

314998 ZINC FINGER PROTEIN 81; ZNF81

600426 E2F TRANSCRIPTION FACTOR 2; E2F2

602544 PARKIN; PARK2

603779 SYNUCLEIN-ALPHA-INTERACTING PROTEIN; SNCAIP

603918 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1

604329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2

607276 RESTING HEART RATE

607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2

608742 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4

June 16, 2004

New Entries:

608737 RAB11 FAMILY-INTERACTING PROTEIN 1

608738 RAB11 FAMILY-INTERACTING PROTEIN 3

608739 HISTONE mRNA 3-PRIME END-SPECIFIC EXORIBONUCLEASE

Changed Entries:

133435 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1

192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

601665 OBESITY

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3

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

604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1

605394 BTB AND CNC HOMOLOGY 2; BACH2

605536 RAB11-INTERACTING PROTEIN

607129 NEDD9-INTERACTING PROTEIN WITH CALPONIN HOMOLOGY AND LIM DOMAINS;

608010 NPC1-LIKE 1; NPC1L1

608599 RAB11 FAMILY-INTERACTING PROTEIN 2

608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1

608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED

June 15, 2004

New Entries:

608732 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 8; SLC39A8

608733 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 10; SLC39A10

608734 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 12; SLC39A12

608735 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 13; SLC39A13

608736 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

108355 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

142410 TRANSCRIPTION FACTOR 1; TCF1

147450 SUPEROXIDE DISMUTASE 1; SOD1

154050 MAJOR INTRINSIC PROTEIN OF LENS FIBER; MIP

172480 PHOSPHOSERINE PHOSPHATASE; PSPH

176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA

190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

194050 WILLIAMS-BEUREN SYNDROME; WBS

259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE

314998 ZINC FINGER PROTEIN 81; ZNF81

600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),

600315 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4

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

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602021 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A

602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS

602721 DISRUPTED MEIOTIC cDNA 1, YEAST, HOMOLOG OF; DMC1

604164 ONE CUT DOMAIN, FAMILY MEMBER 1; ONECUT1

605565 RESISTIN; RETN

606986 MOVED TO 600716

608067 CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF

608731 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6

608732 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 8; SLC39A8

June 14, 2004

New Entries:

608729 ANGIOTENSIN II RECEPTOR-ASSOCIATED PROTEIN; AGTRAP

608730 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 5; SLC39A5

608731 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6

Changed Entries:

107730 APOLIPOPROTEIN B; APOB

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

123590 CRYSTALLIN, ALPHA-B; CRYAB

131240 ENDOTHELIN 1; EDN1

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

147380 INHIBIN, ALPHA; INHA

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

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

175200 PEUTZ-JEGHERS SYNDROME; PJS

191170 TUMOR PROTEIN p53; TP53

202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC

209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF

235730 MOWAT-WILSON SYNDROME

260540 PARKINSON-DEMENTIA SYNDROME

268000 RETINITIS PIGMENTOSA; RP

300000 OPITZ SYNDROME

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

314998 ZINC FINGER PROTEIN 81; ZNF81

590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI

600669 EPILEPSY, IDIOPATHIC GENERALIZED; IGE

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B

605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B

608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED

Clinical Synopsis for 183090 SPINOCEREBELLAR ATAXIA 2; SCA2

June 11, 2004

New Entries:

608720 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA

608727 DE-ETIOLATED 1, ARABIDOPSIS, HOMOLOG OF

608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED

Clinical Synopsis for 608720 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA

Changed Entries:

108961 NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B; NPR2

127750 DEMENTIA, LEWY BODY; DLB

128200 PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC

136533 FORKHEAD BOX O1A; FOXO1A

138275 GLUTAMIC ACID DECARBOXYLASE 2; GAD2

158350 COWDEN DISEASE; CD

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

163890 SYNUCLEIN, ALPHA; SNCA

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

172700 PICK DISEASE OF BRAIN

173393 PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR

181000 SARCOIDOSIS

191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1

208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC

223360 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH

301500 FABRY DISEASE

516006 COMPLEX I, SUBUNIT ND6; MTND6

535000 LEBER OPTIC ATROPHY

600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1

600179 GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D

600274 FRONTOTEMPORAL DEMENTIA

600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),

600705 SATOYOSHI SYNDROME

600715 THROMBOSPONDIN IV; THBS4

600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE

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

601999 LIM HOMEOBOX GENE 1; LHX1

602109 MATRILIN 3; MATN3

602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

603137 CULLIN 4A; CUL4A

603814 RING-BOX 1; RBX1

607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD

607867 RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 1; RCBTB1

607970 G PROTEIN-COUPLED RECEPTOR 135

608067 CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF

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

Clinical Synopsis for 128200 PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC

Clinical Synopsis for 601764 BENIGN FAMILIAL INFANTILE CONVULSIONS

Clinical Synopsis for 602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

Clinical Synopsis for 605751 BENIGN FAMILIAL INFANTILE CONVULSIONS 2

June 10, 2004

New Entries:

608709 BARRAQUER-SIMONS SYNDROME

608722 CAPPING PROTEIN, ALPHA-3; CAPZA3

608723 PHOSPHATASE AND ACTIN REGULATOR 1; PHACTR1

608724 PHOSPHATASE AND ACTIN REGULATOR 2; PHACTR2

608725 PHOSPHATASE AND ACTIN REGULATOR 3; PHACTR3

608726 PHOSPHATASE AND ACTIN REGULATOR 4; PHACTR4

Changed Entries:

102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1

118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A

125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP

140100 HAPTOGLOBIN; HP

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

162323 TACHYKININ RECEPTOR 1; TACR1

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

176886 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG

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

191170 TUMOR PROTEIN p53; TP53

194363 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4

213300 JOUBERT SYNDROME 1; JBTS1

227400 FACTOR V DEFICIENCY

243910 JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA

260540 PARKINSON-DEMENTIA SYNDROME

274270 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD

535000 LEBER OPTIC ATROPHY

600267 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13

600923 PROTOPORPHYRINOGEN OXIDASE; PPOX

601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP

601571 CAPPING PROTEIN, ALPHA-2; CAPZA2

601572 CAPPING PROTEIN, BETA; CAPZB

601580 CAPPING PROTEIN, ALPHA-1; CAPZA1

602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8

602533 ONCOGENE DJ1

603155 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 14; PTPN14

603680 SPINOCEREBELLAR ATAXIA 8; SCA8

604254 DYSLEXIA SUSCEPTIBILITY 3; DYX3

605565 RESISTIN; RETN

605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

606702 PKHD1 GENE; PKHD1

607100 NEPHROCYSTIN; NPHP1

607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

608507 MITOFUSIN 2; MFN2

608712 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, T; PTPRT

608725 PHOSPHATASE AND ACTIN REGULATOR 3; PHACTR3

Clinical Synopsis for 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

June 9, 2004

New Entries:

608718 KERATIN-ASSOCIATED PROTEIN 13-1; KRTAP13-1

608719 TR4-ASSOCIATED PROTEIN, 16-KD

608721 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITORY PROTEIN

Changed Entries:

113100 BRACHYDACTYLY, TYPE C; BDC

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

126060 DIHYDROFOLATE REDUCTASE; DHFR

138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;

138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;

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

164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1

164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2

176640 PRION PROTEIN; PRNP

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE

270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS

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

300394 TAFAZZIN; TAZ

300486 MENTAL RETARDATION, X-LINKED 60, MRX60

302060 BARTH SYNDROME; BTHS

309630 METACARPAL 4-5 FUSION; MF4

313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

535000 LEBER OPTIC ATROPHY

600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3

601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5

601539 PEROXISOME BIOGENESIS DISORDERS; PBD

601831 HISTONE 2, H2BE; HIST2H2BE

601959 NEVER IN MITOSIS GENE A-RELATED KINASE 4; NEK4

602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1

602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88

602544 PARKIN; PARK2

602954 RAD51, S. CEREVISIAE, HOMOLOG OF, D; RAD51L3

603028 TOLL-LIKE RECEPTOR 2; TLR2

603030 TOLL-LIKE RECEPTOR 4; TLR4

604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4

604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B

604263 PRION GENE COMPLEX, DOWNSTREAM; PRND

606604 F-BOX ONLY PROTEIN 32; FBXO32

607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1

608705 INTEGRIN, BETA-1, BINDING PROTEIN OF, 3; ITGB1BP3

Clinical Synopsis for 601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP

Clinical Synopsis for 607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD

June 8, 2004

New Entries:

608713 CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1

608714 SYNTROPHIN, GAMMA-1; SNTG1

608715 SYNTROPHIN, GAMMA-2; SNTG2

608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5

608717 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 13; LGALS13

Changed Entries:

102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

141900 HEMOGLOBIN--BETA LOCUS; HBB

164210 HEMIFACIAL MICROSOMIA; HFM

175200 PEUTZ-JEGHERS SYNDROME; PJS

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

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1

274600 PENDRED SYNDROME; PDS

276901 USHER SYNDROME, TYPE IIA; USH2A

600274 FRONTOTEMPORAL DEMENTIA

600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E

600970 MYOSIN VI; MYO6

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602544 PARKIN; PARK2

603545 ENLARGED VESTIBULAR AQUEDUCT SYNDROME

605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

606346 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22

607117 MCPH1 GENE

608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6

608400 USH2A GENE; USH2A

608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5

June 7, 2004

New Entries:

608711 CTD SMALL PHOSPHATASE 2; CTDSP2

608712 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, T; PTPRT

Changed Entries:

118945 CILIARY NEUROTROPHIC FACTOR; CNTF

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP

160900 DYSTROPHIA MYOTONICA 1

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176200 PORPHYRIA VARIEGATA

200110 ABLEPHARON-MACROSTOMIA SYNDROME

228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY

273400 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND

600725 SONIC HEDGEHOG; SHH

600923 PROTOPORPHYRINOGEN OXIDASE; PPOX

601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE

601731 5-@AMINOIMIDAZOLE-4-CARBOXAMIDE RIBONUCLEOTIDE FORMYLTRANSFERASE/IMP

604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME

605323 C-TERMINAL DOMAIN OF RNA POLYMERASE II POLYPEPTIDE A, SMALL PHOSPHATASE

607440 FCMD GENE; FCMD

608592 CTD SMALL PHOSPHATASE-LIKE; CTDSPL

June 4, 2004

New Entries:

608703 SPINOCEREBELLAR ATAXIA 25; SCA25

608707 CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON

608708 BROTHER OF CDON

608710 WEGENER GRANULOMATOSIS

Changed Entries:

115470 CAT EYE SYNDROME; CES

122470 CORNELIA DE LANGE SYNDROME; CDLS

127700 DYSLEXIA SUSCEPTIBILITY 1; DYX1

136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1

137580 GILLES DE LA TOURETTE SYNDROME; GTS

153310 CHARCOT-LEYDEN CRYSTAL PROTEIN; CLC

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

155720 MELANOMA, UVEAL

162200 NEUROFIBROMATOSIS, TYPE I; NF1

164185 OCULAR CICATRICIAL PEMPHIGOID; OCP

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

177020 PROTEINASE 3; PRTN3

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

193300 VON HIPPEL-LINDAU SYNDROME; VHL

222448 DONNAI-BARROW SYNDROME

258660 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO

600110 STARGARDT DISEASE 3; STGD3

600202 DYSLEXIA SUSCEPTIBILITY 2; DYX2

600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1

601680 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B; AMCD2B

601724 NEUROGENIC DIFFERENTIATION 1; NEUROD1

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

605363 GLUTAMATE DECARBOXYLASE 1; GAD1

606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA

606896 DYSLEXIA SUSCEPTIBILITY 5; DYX5

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

608096 EPILEPSY, FAMILIAL TEMPORAL LOBE

608677 DAPK-INTERACTING PROTEIN 1

608681 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2

608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1

June 3, 2004

New Entries:

608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1

Changed Entries:

102990 MOVED TO 145600

104300 ALZHEIMER DISEASE; AD

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

145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2

154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3

160900 DYSTROPHIA MYOTONICA 1

176640 PRION PROTEIN; PRNP

180901 RYANODINE RECEPTOR 1; RYR1

209900 BARDET-BIEDL SYNDROME; BBS

256000 LEIGH SYNDROME; LS

300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC

312750 RETT SYNDROME; RTT

314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG

516002 COMPLEX I, SUBUNIT ND3; MTND3

540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE

545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH

590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK

590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1

590100 TRANSFER RNA, MITOCHONDRIAL, TYROSINE; MTTY

600072 FAMILIAL FATAL INSOMNIA; FFI

600467 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4

600514 REELIN; RELN

600595 TG737, MOUSE, HOMOLOG OF

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5

601888 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6

602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES

603646 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15; COX15

603650 BBS5 GENE; BBS5

603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN

603956 CERVICAL CANCER

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

604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1

606857 GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC

608584 ASTHMA SUSCEPTIBILITY 2

June 3, 2004

New Entries:

608704 NICOTINAMIDE RIBOSIDE KINASE 1

608705 INTEGRIN, BETA-1, BINDING PROTEIN OF, 3; ITGB1BP3

Changed Entries:

100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND

100800 ACHONDROPLASIA; ACH

101600 PFEIFFER SYNDROME

103780 ALCOHOLISM

105650 DIAMOND-BLACKFAN ANEMIA, AUTOSOMAL DOMINANT

106210 ANIRIDIA, TYPE II; AN2

110250 BLOOD GROUP--ABO SUPPRESSOR

110800 BLOOD GROUP--I SYSTEM; Ii

114290 CAMPOMELIC DYSPLASIA

114550 HEPATOCELLULAR CARCINOMA

120900 COMPLEMENT COMPONENT 5 DEFICIENCY

122470 CORNELIA DE LANGE SYNDROME; CDLS

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

129010 EARLY GROWTH RESPONSE 2; EGR2

130080 EHLERS-DANLOS SYNDROME, TYPE VIII

131195 ENDOGLIN; ENG

135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP

138430 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; GPD2

139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE

139900 HAND SKILL, RELATIVE; HSR

142340 HERNIA, DIAPHRAGMATIC

142360 HEPARIN COFACTOR II; HCF2

145650 HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION

150571 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2; LGALS2

154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF

163200 NEVUS SEBACEUS OF JADASSOHN

164750 OMPHALOCELE

165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3

177850 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT; PXE

179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

180200 RETINOBLASTOMA; RB1

182820 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY

182890 SPERM PROTAMINE P2; PRM2

183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

185430 CLUSTERIN; CLU

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

190160 THYROID HORMONE RECEPTOR, BETA; THRB

191100 TUBEROUS SCLEROSIS; TS

193300 VON HIPPEL-LINDAU SYNDROME; VHL

200990 ACROCALLOSAL SYNDROME; ACLS

202700 NEUTROPENIA, SEVERE CONGENITAL; SCN

211910 CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1

212138 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER

219700 CYSTIC FIBROSIS; CF

225300 ECTRODACTYLY

228355 FETAL IODINE DEFICIENCY DISORDER; FIDD

228550 FIBROMATOSIS, CONGENITAL GENERALIZED; CGF

230750 GASTROSCHISIS

246570 LIMB DEFICIENCY-HEART MALFORMATION SYNDROME

257320 LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS

264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE

273300 TESTICULAR TUMORS

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300008 CHLORIDE CHANNEL 5; CLCN5

300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

300064 MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM

300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA

300500 ALBINISM, OCULAR, TYPE I; OA1

304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2

304700 MOHR-TRANEBJAERG SYNDROME; MTS

305371 GATA-BINDING PROTEIN 1; GATA1

305550 FINGERPRINT BODY MYOPATHY

305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD

305800 GLOMERULONEPHRITIS, X-LINKED MESANGIOCAPILLARY

306100 GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY

306700 HEMOPHILIA A

307300 HYPOGONADISM, MALE

308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED

308300 INCONTINENTIA PIGMENTI; IP

308700 KALLMANN SYNDROME 1; KAL1

308930 LEIGH SYNDROME, X-LINKED

310980 OMPHALOCELE

311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

311895 PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES

312000 PANHYPOPITUITARISM; PHP

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

312600 RETINITIS PIGMENTOSA 2; RP2

312750 RETT SYNDROME; RTT

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

600278 RAP1, GTPase-ACTIVATING PROTEIN 1; RAP1GA1

600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2

600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A

600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B

600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT; SCNN1G

600807 ASTHMA SUSCEPTIBILITY

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

601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

602885 G PROTEIN-COUPLED RECEPTOR 38; GPR38

602886 G PROTEIN-COUPLED RECEPTOR 39; GPR39

602943 RAR-RELATED ORPHAN RECEPTOR C; RORC

605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3

605342 PAIRED IMMUNOGLOBULIN-LIKE RECEPTOR, BETA

605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC

606381 G PROTEIN-COUPLED RECEPTOR 91; GPR91

606582 DELTA-LIKE 1; DLL1

606850 MIRROR-IMAGE POLYDACTYLY GENE 1; MIPOL1

606922 G PROTEIN-COUPLED RECEPTOR 80; GPR80

607258 HYPERCALCIURIA, ABSORPTIVE, 1

607998 CLN2 GENE; CLN2

608537 VHL GENE; VHL

608584 ASTHMA SUSCEPTIBILITY 2

608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12

Clinical Synopsis for 256000 LEIGH SYNDROME; LS

June 1, 2004

Changed Entries:

103000 ADENYLATE KINASE 1; AK1

103020 ADENYLATE KINASE 2; AK2

113520 BRANCHED-CHAIN AMINOTRANSFERASE 1; BCAT1

171760 ALKALINE PHOSPHATASE, LIVER; ALPL

174050 POLYCYSTIC LIVER DISEASE; PCLD

251260 NIJMEGEN BREAKAGE SYNDROME

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

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

305450 FG SYNDROME; FGS1

600075 TATA BOX-BINDING PROTEIN; TBP

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600390 UPSTREAM STIMULATORY FACTOR 2; USF2

600655 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-2; EEF1B2

600807 ASTHMA SUSCEPTIBILITY

600849 NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1

602667 NBS1 GENE; NBS1

605627 CEREBROOCULONASAL SYNDROME

607136 SPINOCEREBELLAR ATAXIA 17; SCA17

607432 LISSENCEPHALY I; LIS1

608628 TBL1-RELATED PROTEIN 1

608630 RB-INHIBITING GENE 1

608692 BASIC LEUCINE ZIPPER NUCLEAR FACTOR 1; BLZF1

Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE

Clinical Synopsis for 174050 POLYCYSTIC LIVER DISEASE; PCLD

June 1, 2004

New Entries:

608687 SPINOCEREBELLAR ATAXIA 20; SCA20

608691 MAJOR DEPRESSIVE DISORDER 2

608692 BASIC LEUCINE ZIPPER NUCLEAR FACTOR 1; BLZF1

608693 GOLGI REASSEMBLY STACKING PROTEIN 2; GORASP2

608694 ZINC FINGER PROTEIN 622; ZNF622

608695 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 2

608696 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 3

608697 FACTOR IN GERMLINE ALPHA, MOUSE, HOMOLOG OF

608698 DISCOIDIN, CUB, AND LCCL DOMAIN-CONTAINING PROTEIN 2; DCBLD2

608699 BONE MORPHOGENETIC PROTEIN-BINDING ENDOTHELIAL CELL PRECURSOR-DERIVED

608700 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1

608701 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 2; NMNAT2

608702 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 3; NMNAT3

Changed Entries:

100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1

103072 ADENYLATE CYCLASE 1; ADCY1

104300 ALZHEIMER DISEASE; AD

109150 MACHADO-JOSEPH DISEASE; MJD

116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM

116955 ZINC FINGER PROTEIN 9; ZNF9

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

122470 CORNELIA DE LANGE SYNDROME 1; CDL1

125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E

137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1

141900 HEMOGLOBIN--BETA LOCUS; HBB

142100 HEMOGLOBIN--EPSILON LOCUS; HBE1

143100 HUNTINGTON DISEASE; HD

147670 INSULIN RECEPTOR; INSR

158590 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II

159552 MYELOID CELL LEUKEMIA 1; MCL1

163731 NITRIC OXIDE SYNTHASE 1; NOS1

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

164500 SPINOCEREBELLAR ATAXIA 7; SCA7

165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1

166260 GNATHODIAPHYSEAL DYSPLASIA; GDD

174050 POLYCYSTIC LIVER DISEASE; PCLD

179010 PYLORIC STENOSIS, INFANTILE

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

190000 TRANSFERRIN; TF

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

191170 TUMOR PROTEIN p53; TP53

194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1

208920 ATAXIA-OCULOMOTOR APRAXIA SYNDROME

209850 AUTISM

211900 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA

220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1

223100 HYPOLACTASIA, ADULT TYPE

235200 HEMOCHROMATOSIS; HFE

238350 HYPERLEXIA

600143 CEROID LIPOFUSCINOSIS, NEURONAL 8; CLN8

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

600516 BCL2 ANTAGONIST KILLER 1; BAK1

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

600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2

600970 MYOSIN VI; MYO6

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601756 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

603202 LACTASE; LCT

603369 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C

603516 SPINOCEREBELLAR ATAXIA 10; SCA10

604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2

604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2

605078 TAR DNA-BINDING PROTEIN; TARDBP

605628 HIV-1 TAT-INTERACTING PROTEIN 2, 30-KD; HTATIP2

605875 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 2; WASF2

605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15

606350 APRATAXIN; APTX

606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F

606711 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

606712 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

607025 MATERNAL EMBRYONIC LEUCINE ZIPPER KINASE; MELK

607774 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 3;

607837 CLN8 GENE; CLN8

608014 HEAT-SHOCK 22-KD PROTEIN 8; HSPB8

608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT

608516 MAJOR DEPRESSIVE DISORDER; MDD

608520 MAJOR DEPRESSIVE DISORDER 1

608634 NEUROPATHY, DISTAL HEREDITARY MOTOR, CAUSED BY MUTATION IN THE HSPB1

608639 PHOSPHATIDYLINOSITOL 4-PHOSPHATE ADAPTOR PROTEIN 2

608648 SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63

608662 TRANSMEMBRANE PROTEIN 16E; TMEM16E

608667 NIPPED-B-LIKE

608693 GOLGI REASSEMBLY STACKING PROTEIN 2; GORASP2