PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for March, 2005

March 31, 2005

New Entries:

609287 SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B1; SH3GLB1

609288 SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B2; SH3GLB2

609289 SYNCOPE, FAMILIAL NEUROCARDIOGENIC

609290 ADENYLATE KINASE 3-LIKE 1; AK3L1

Changed Entries:

103030 ADENYLATE KINASE 3; AK3

104510 AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASTIC TYPE, WITH TAURODONTISM;

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147950 KALLMANN SYNDROME 2; KAL2

164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF

174800 MCCUNE-ALBRIGHT SYNDROME; MAS

182205 SEX HORMONE-BINDING GLOBULIN; SHBG

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

232500 GLYCOGEN STORAGE DISEASE IV

308700 KALLMANN SYNDROME 1; KAL1

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

600525 DISTAL-LESS HOMEOBOX 3; DLX3

602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4

607839 GLYCOGEN BRANCHING ENZYME; GBE1

Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA 1

Clinical Synopsis for 600118 WARBURG MICRO SYNDROME 1; WARBM1

March 30, 2005

New Entries:

609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML

103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

138295 GLUTAMYL-PROLYL-tRNA SYNTHETASE; EPRS

138680 ALPHA-2-HS-GLYCOPROTEIN; AHSG

142410 TRANSCRIPTION FACTOR 1; TCF1

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

152445 LORICRIN; LOR

157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

160550 MOVED TO 157640

164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

166710 OSTEOPOROSIS, INVOLUTIONAL

173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1

174763 POLYMERASE, DNA, GAMMA; POLG

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

191080 TRYPTASE, ALPHA/BETA-1; TPSAB1

191081 TRYPTASE, BETA-2; TPSB2

206100 ANEMIA, HYPOCHROMIC MICROCYTIC

235200 HEMOCHROMATOSIS; HFE

252600 MUCOLIPIDOSIS IIIA

255170 MOVED TO 603280

258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB

300490 SH2 DOMAIN PROTEIN 1A; SH2D1A

308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED

550000 MOVED TO 157640

590000 TRANSFER RNA, MITOCHONDRIAL, ALANINE; MTTA

590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK

590095 TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW

600043 SULFOTRANSFERASE, ESTROGEN-PREFERRING; STE

600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),

600829 INOSITOL POLYPHOSPHATE PHOSPHATASE-LIKE 1; INPPL1

600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A

601779 MOVED TO 258450

601958 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-3 SUBUNIT; CACNB3

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

603280 MOVED TO 157640

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

606074 GLOBOSIDE ALPHA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE; GBGT1

606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2

606131 RING FINGER PROTEIN 28; RNF28

607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO

607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTA

609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

Clinical Synopsis for 255170 MOVED TO 603280

March 29, 2005

New Entries:

300532 VARIABLY CHARGED, X CHROMOSOME, 2; VCX2

300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A

609277 MOLYBDENUM COFACTOR SYNTHESIS 3; MOCS3

609278 IZUMO

609279 CENTROMERIC PROTEIN J; CENPJ

609280 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 4; EIF2AK4

609281 MOB1-LIKE PROTEIN 1B; MOBKL1B

609282 MOB1-LIKE PROTEIN 1A; MOBKL1A

Clinical Synopsis for 193007 VESTIBULOPATHY, FAMILIAL

Clinical Synopsis for 602477 FEBRILE CONVULSIONS, FAMILIAL, 2; FEB2

Clinical Synopsis for 604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4

Clinical Synopsis for 604403 FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3

Clinical Synopsis for 607417 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 2A; MRT2A

Clinical Synopsis for 609253 FEBRILE CONVULSIONS, FAMILIAL, 6; FEB6

Clinical Synopsis for 609255 FEBRILE CONVULSIONS, FAMILIAL, 5; FEB5

Changed Entries:

102300 RESTLESS LEGS SYNDROME 1

104311 PRESENILIN 1; PSEN1

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

113730 UNCOUPLING PROTEIN 1; UCP1

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

117000 CENTRAL CORE DISEASE OF MUSCLE

128235 DYSTONIA 12; DYT12

129100 EARS, ABILITY TO MOVE

133170 ERYTHROPOIETIN; EPO

134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB

137800 GLIOMA OF BRAIN, FAMILIAL

138680 ALPHA-2-HS-GLYCOPROTEIN; AHSG

138970 COLONY-STIMULATING FACTOR 3; CSF3

139250 GROWTH HORMONE 1; GH1

147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO

155100 MAY-HEGGLIN ANOMALY; MHA

156569 METHYLGUANINE-DNA METHYLTRANSFERASE; MGMT

160900 DYSTROPHIA MYOTONICA 1

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS

173445 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1; PECAM1

180901 RYANODINE RECEPTOR 1; RYR1

187020 T-COMPLEX 10; TCP10

190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS

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

190700 ZINC FINGER PROTEIN 36, MOUSE, HOMOLOG OF; ZFP36

191160 TUMOR NECROSIS FACTOR; TNF

212350 CATARACT AND CARDIOMYOPATHY

214800 CHARGE SYNDROME

255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1

260800 PENTOSURIA

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300229 VARIABLY CHARGED, X CHROMOSOME; VCX

300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A

309400 MENKES DISEASE

312750 RETT SYNDROME; RTT

312865 SHORT STATURE HOMEOBOX; SHOX

600085 PROTEIN-TYROSINE KINASE SYK; SYK

601090 FORKHEAD BOX CI; FOXC1

601248 BRIDGING INTEGRATOR 1; BIN1

601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1

602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32

602482 AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND SENSORINEURAL HEARING

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

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4

603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4

603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5

604271 SHORT STATURE; SS

604798 HOMER, NEURONAL IMMEDIATE EARLY GENE, 1B

604799 HOMER 2

605386 LET7, C. ELEGANS, HOMOLOG OF, A1

605541 VAV3 ONCOGENE; VAV3

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

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

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

606520 G6B PROTEIN

607218 INTERFERON REGULATORY FACTOR 5; IRF5

607623 NPC1 GENE; NPC1

607799 HUNTINGTIN-INTERACTING PROTEIN 14

608347 DICARBONYL/L-XYLULOSE REDUCTASE; DCXR

609276 KIAA0056 GENE

Clinical Synopsis for 117360 CEREBELLAR ATAXIA 4; CLA4

Clinical Synopsis for 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Clinical Synopsis for 121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1

Clinical Synopsis for 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Clinical Synopsis for 603516 SPINOCEREBELLAR ATAXIA 10; SCA10

Clinical Synopsis for 604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4

March 25, 2005

New Entries:

609274 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE, 2

609275 RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT

609276 KIAA0056 GENE

Changed Entries:

104510 AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIC TYPE, WITH TAURODONTISM;

159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A

184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE

209850 AUTISM

600014 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

600525 DISTAL-LESS HOMEOBOX 3; DLX3

600581 INHIBITOR OF DNA BINDING 4; ID4

601234 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE; NACA

602536 RAB3 GTPase-ACTIVATING PROTEIN

602668 DYSTROPHIA MYOTONICA 2; DM2

605550 RAS PROTEIN, DEXAMETHASONE-INDUCED, 1; RASD1

606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5

March 24, 2005

Changed Entries:

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

153450 LYSOZYME; LYZ

248800 MARINESCO-SJOGREN SYNDROME; MSS

300016 MELANOMA ANTIGEN, FAMILY A, 1; MAGEA1

300058 MOVED TO 300446

300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1

300098 MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2

300152 MELANOMA ANTIGEN, FAMILY B, 3; MAGEB3

300153 MELANOMA ANTIGEN, FAMILY B, 4; MAGEB4

300173 MELANOMA ANTIGEN, FAMILY A, 2; MAGEA2

300174 MELANOMA ANTIGEN, FAMILY A, 3; MAGEA3

300175 MELANOMA ANTIGEN, FAMILY A, 4; MAGEA4

300176 MELANOMA ANTIGEN, FAMILY A, 6; MAGEA6

300177 MELANOMA ANTIGEN, FAMILY A, 12; MAGEA12

300223 MELANOMA ANTIGEN, FAMILY C, 1; MAGEC1

300224 MELANOMA ANTIGEN, FAMILY D, 1; MAGED1

300340 MELANOMA ANTIGEN, FAMILY A, 5; MAGEA5

300341 MELANOMA ANTIGEN, FAMILY A, 8; MAGEA8

300342 MELANOMA ANTIGEN, FAMILY A, 9; MAGEA9

300343 MELANOMA ANTIGEN, FAMILY A, 10; MAGEA10

300344 MELANOMA ANTIGEN, FAMILY A, 11; MAGEA11

300359 SARCOMA ANTIGEN 1; SAGE1

300446 OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE

300447 HOMEOBOX PROTEIN, PEPP SUBFAMILY, 2

300466 MELANOMA ANTIGEN, FAMILY B, 5; MAGEB5

300467 MELANOMA ANTIGEN, FAMILY B, 6; MAGEB6

300468 MELANOMA ANTIGEN, FAMILY E, 1; MAGEE1

300469 MELANOMA ANTIGEN, FAMILY C, 3; MAGEC3

300470 MELANOMA ANTIGEN, FAMILY D, 2; MAGED2

300490 SH2 DOMAIN PROTEIN 1A; SH2D1A

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

601224 POTOCKI-SHAFFER SYNDROME

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

606083 BRG1-ASSOCIATED FACTOR, 180-KD

607154 ALLERGIC RHINITIS

607270 KIAA0442

608352 ACROSIN-BINDING PROTEIN; ACRBP

March 23, 2005

New Entries:

300531 SPROUTY, DROSOPHILA, HOMOLOG OF, 3; SPRY3

609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26

609271 KERATOCONUS 4; KTCN4

609272 TRYPTASE, DELTA-1; TPSD1

Changed Entries:

105200 AMYLOIDOSIS, FAMILIAL VISCERAL

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

126337 DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3

137215 GASTRIC CANCER

147920 KABUKI SYNDROME

148300 KERATOCONUS 1; KTCN1

153450 LYSOZYME; LYZ

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9

163890 SYNUCLEIN, ALPHA; SNCA

164160 LEPTIN; LEP

164860 MET PROTOONCOGENE; MET

166200 OSTEOGENESIS IMPERFECTA, TYPE I

173360 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1

173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA

176830 PROOPIOMELANOCORTIN; POMC

176941 PROTEIN-TYROSINE KINASE 2; TYK2

185535 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 1; TACSTD1

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

190160 THYROID HORMONE RECEPTOR, BETA; THRB

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

190685 DOWN SYNDROME

191080 TRYPTASE, ALPHA/BETA-1; TPSAB1

191081 TRYPTASE, BETA-2; TPSB2

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED

600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2

600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2

601007 LEPTIN RECEPTOR; LEPR

601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT

601324 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; HNRPD

602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1

602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2

602467 MOVED TO 300531

602544 PARKIN; PARK2

602992 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 1; LAIR1

602993 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 2; LAIR2

605458 INTERLEUKIN 17 RECEPTOR B; IL17RB

605532 SMAD UBIQUITINATION REGULATORY FACTOR 2

606807 INTERLEUKIN 17 RECEPTOR D; IL17RD

607218 INTERFERON REGULATORY FACTOR 5; IRF5

608828 DROSHA, DROSOPHILA, HOMOLOG OF

608932 KERATOCONUS 2; KTCN2

609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8

Clinical Synopsis for 181000 SARCOIDOSIS

March 22, 2005

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

114550 HEPATOCELLULAR CARCINOMA

116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

131200 ENDOMETRIOSIS

134797 FIBRILLIN 1; FBN1

139320 GNAS COMPLEX LOCUS; GNAS

150330 LAMIN A/C; LMNA

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

162640 NEUROPEPTIDE Y; NPY

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

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

190685 DOWN SYNDROME

191080 TRYPTASE, ALPHA/BETA-1; TPSAB1

191081 TRYPTASE, BETA-2; TPSB2

193007 VESTIBULOPATHY, FAMILIAL

231090 HYDATIDIFORM MOLE

235200 HEMOCHROMATOSIS; HFE

256700 NEUROBLASTOMA

275000 GRAVES DISEASE

300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1

300377 DYSTROPHIN; DMD

305371 GATA-BINDING PROTEIN 1; GATA1

309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2

313700 ANDROGEN RECEPTOR; AR

600859 JTV1 GENE

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

601340 MELANOMA INHIBITORY ACTIVITY PROTEIN; MIA

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ

603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR

604370 OVARIAN CANCER, EPITHELIAL

607440 FCMD GENE; FCMD

608160 SRY-BOX 9; SOX9

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

608636 AUTISM, SUSCEPTIBILITY TO, 1

March 18, 2005

New Entries:

300530 KAWASAKI DISEASE

609167 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 2; HTL2

609267 MELANOMA ANTIGEN, FAMILY F, 1; MAGEF1

609268 SPLICING FACTOR, ARGININE/SERINE-RICH, 12; SFRS12

609269 KIAA0319 GENE

Changed Entries:

139320 GNAS COMPLEX LOCUS; GNAS

148760 KINESIN FAMILY MEMBER 11; KIF11

190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3

208920 ATAXIA-OCULOMOTOR APRAXIA SYNDROME

209850 AUTISM

300530 KAWASAKI DISEASE

309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2

600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2

603516 SPINOCEREBELLAR ATAXIA 10; SCA10

605317 FORKHEAD BOX P2; FOXP2

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

606438 HUNTINGTON DISEASE-LIKE 2; HDL2

606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B

607270 AUTS2 GENE; AUTS2

609032 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY REGION GENE 2; FRG2

609269 KIAA0319 GENE

March 18, 2005

New Entries:

609254 SENIOR-LOKEN SYNDROME 5; SLSN5

609256 MYOPIA 7

609257 MYOPIA 8

609258 MYOPIA 9

609259 MYOPIA 10

609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2

609261 STUTTERING, FAMILIAL PERSISTENT 2; STUT2

609263 SEH1-LIKE PROTEIN; SEH1L

609264 NUCLEOPORIN, 37-KD; NUP37

Changed Entries:

105800 ANEURYSM, INTRACRANIAL BERRY, 1

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

146510 PALLISTER-HALL SYNDROME; PHS

165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3

170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP

175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

180849 RUBINSTEIN-TAYBI SYNDROME; RSTS

184450 STUTTERING, FAMILIAL PERSISTENT 1; STUT1

261800 PIERRE ROBIN SYNDROME

601562 DYNEIN, CYTOPLASMIC, LIGHT CHAIN 1; DNCL1

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

602700 E1A-BINDING PROTEIN, 300-KD; EP300

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

604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1

604943 PRESTIN; PRES

608160 SRY-BOX 9; SOX9

608542 ANEURYSM, INTRACRANIAL BERRY, 2

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609058 METHYLMALONYL-CoA MUTASE; MUT

609122 ANEURYSM, INTRACRANIAL BERRY, 3

609237 IQ MOTIF-CONTAINING PROTEIN B1; IQCB1

609256 MYOPIA 7

March 18, 2005

Changed Entries:

600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2

600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V

600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2

600623 KANGAI 1; KAI1

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

600770 MUCIN 5, SUBTYPE B, TRACHEOBRONCHIAL; MUC5B

600807 ASTHMA, SUSCEPTIBILITY TO

600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B

601021 NUCLEOPORIN, 98-KD; NUP98

601089 FORKHEAD BOX F1; FOXF1

601143 DYNACTIN 1; DCTN1

601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D

601518 PROSTATE CANCER, HEREDITARY, 1; HPC1

602005 SORTILIN-RELATED RECEPTOR; SORL1

602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2

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

602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

602536 RAB3 GTPase-ACTIVATING PROTEIN

602544 PARKIN; PARK2

602623 FK506-BINDING PROTEIN 5; FKBP5

602719 SPLICING FACTOR, ARGININE/SERINE-RICH, 10; SFRS10

602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2

602895 SCAFFOLD ATTACHMENT FACTOR B; SAFB

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB

603545 ENLARGED VESTIBULAR AQUEDUCT SYNDROME

603666 SYNTAXIN 16; STX16

603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB

604018 NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL

604365 PROMININ 1; PROM1

604679 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 1; PABPC1

605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5

605242 USH1C GENE; USH1C

605254 NICASTRIN

605552 ABDOMINAL OBESITY-METABOLIC SYNDROME

605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1

605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

605900 PDZ AND LIM DOMAIN PROTEIN 1; PDLIM1

605904 ENIGMA-LIKE LIM DOMAIN PROTEIN

605995 KINESIN FAMILY MEMBER 1B; KIF1B

606070 MYOPATHY, DISTAL 2; MPD2

606797 SUPPRESSION OF TUMORIGENICITY 14; ST14

607011 UBIQUITIN-SPECIFIC PROTEASE 17; USP17

607067 SAITOHIN

607130 REGULATORY ASSOCIATED PROTEIN OF MTOR

607139 FANCA GENE; FANCA

607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I

607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7

607321 ATPase, Na+/K+ TRANSPORTING, ALPHA-4 POLYPEPTIDE; ATP1A4

607412 PALATE, LUNG, AND NASAL EPITHELIUM CARCINOMA-ASSOCIATED PROTEIN; PLUNC

607461 DYMECLIN; DYM

607572 LEPROSY, SUSCEPTIBILITY TO, 2

607641 LOWER MOTOR NEURON DISEASE, PROGRESSIVE, WITHOUT SENSORY SYMPTOMS

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

607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E

607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL

607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H

607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J

607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

607872 MONOSOMY 1p36 SYNDROME

608002 NEPHROCYSTIN 3; NPHP3

608029 CEREBELLAR ATAXIA 3

608053 ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA

608141 NUCLEOPORIN, 43-KD; NUP43

608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME

608218 KERATIN 20; KRT20

608347 DICARBONYL/L-XYLULOSE REDUCTASE; DCXR

608427 PARKIN COREGULATED GENE; PACRG

608507 MITOFUSIN 2; MFN2

608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G

608616 OBSCURIN; OBSCN

608784 ZINC FINGER- AND DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8

608810 ALPHA-B CRYSTALLINOPATHY

608829 SMALL UBIQUITIN-LIKE MODIFIER 4; SUMO4

Clinical Synopsis for 600903 WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM

Clinical Synopsis for 600972 ACHONDROGENESIS, TYPE IB; ACG1B

Clinical Synopsis for 601214 NAXOS DISEASE

Clinical Synopsis for 606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES

Clinical Synopsis for 606519 PHACE ASSOCIATION

March 17, 2005

New Entries:

609262 CEREBLON; CRBN

609265 LI-FRAUMENI SYNDROME 2; LFS2

609266 LI-FRAUMENI SYNDROME 3

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

117360 CEREBELLAR ATAXIA 4; CLA4

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147670 INSULIN RECEPTOR; INSR

151623 LI-FRAUMENI SYNDROME 1; LFS1

176807 PROSTATE CANCER

191160 TUMOR NECROSIS FACTOR; TNF

191170 TUMOR PROTEIN p53; TP53

208050 ARTERIAL TORTUOSITY SYNDROME; ATS

209900 BARDET-BIEDL SYNDROME; BBS

231675 ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH

245800 LAURENCE-MOON SYNDROME

251000 METHYLMALONICACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

259500 OSTEOGENIC SARCOMA

260800 PENTOSURIA

266270 RAMON SYNDROME

266900 SENIOR-LOKEN SYNDROME

268060 RETINOPATHY, PERICENTRAL PIGMENTARY, RECESSIVE

274600 PENDRED SYNDROME; PDS

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A

300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

300107 BOMBESIN-LIKE RECEPTOR 3; BRS3

300199 RNA-BINDING MOTIF PROTEIN, X CHROMOSOME; RBMX

300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

300377 DYSTROPHIN; DMD

302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1

309800 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES; MAA

311050 OPTIC ATROPHY 2; OPA2

312750 RETT SYNDROME; RTT

313700 ANDROGEN RECEPTOR; AR

600028 DISTAL-LESS HOMEOBOX 5; DLX5

600118 WARBURG MICRO SYNDROME 1; WARBM1

600141 HEAT-SHOCK 10-KD PROTEIN; HSPE1

600152 SEC13-LIKE PROTEIN 1; SEC13L1

600185 BREAST CANCER 2 GENE; BRCA2

600435 CARDIOTROPHIN 1; CTF1

600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

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

604638 ACTININ, ALPHA-4; ACTN4

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

608010 NPC1-LIKE 1; NPC1L1

Clinical Synopsis for 215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD

Clinical Synopsis for 215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA

Clinical Synopsis for 215700 CITRULLINEMIA, CLASSIC

Clinical Synopsis for 219800 CYSTINOSIS, NEPHROPATHIC; CTNS

Clinical Synopsis for 225500 ELLIS-VAN CREVELD SYNDROME; EVC

Clinical Synopsis for 230000 FUCOSIDOSIS

Clinical Synopsis for 232300 GLYCOGEN STORAGE DISEASE II

Clinical Synopsis for 232500 GLYCOGEN STORAGE DISEASE IV

Clinical Synopsis for 234100 HALLERMANN-STREIFF SYNDROME; HSS

Clinical Synopsis for 235730 MOWAT-WILSON SYNDROME

Clinical Synopsis for 236200 HOMOCYSTINURIA

Clinical Synopsis for 241500 HYPOPHOSPHATASIA, INFANTILE

Clinical Synopsis for 241510 HYPOPHOSPHATASIA, CHILDHOOD

Clinical Synopsis for 248700 MARDEN-WALKER SYNDROME

Clinical Synopsis for 250250 CARTILAGE-HAIR HYPOPLASIA; CHH

Clinical Synopsis for 252500 MUCOLIPIDOSIS II

Clinical Synopsis for 252600 MUCOLIPIDOSIS IIIA

Clinical Synopsis for 252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA

Clinical Synopsis for 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB

Clinical Synopsis for 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC

Clinical Synopsis for 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID

Clinical Synopsis for 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA

Clinical Synopsis for 253010 MUCOPOLYSACCHARIDOSIS TYPE IVB

Clinical Synopsis for 253200 MUCOPOLYSACCHARIDOSIS TYPE VI

Clinical Synopsis for 253220 MUCOPOLYSACCHARIDOSIS TYPE VII

Clinical Synopsis for 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Clinical Synopsis for 256050 NEONATAL OSSEOUS DYSPLASIA I

Clinical Synopsis for 258850 OROFACIODIGITAL SYNDROME III

Clinical Synopsis for 259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE

Clinical Synopsis for 260400 SHWACHMAN-DIAMOND SYNDROME; SDS

Clinical Synopsis for 261540 PETERS-PLUS SYNDROME

Clinical Synopsis for 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC

Clinical Synopsis for 263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS

Clinical Synopsis for 264800 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE

Clinical Synopsis for 265000 PTERYGIUM SYNDROME

Clinical Synopsis for 265800 PYCNODYSOSTOSIS

Clinical Synopsis for 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE

Clinical Synopsis for 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME

Clinical Synopsis for 269250 SCHNECKENBECKEN DYSPLASIA

Clinical Synopsis for 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Clinical Synopsis for 269920 INFANTILE SIALIC ACID STORAGE DISORDER

Clinical Synopsis for 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME

Clinical Synopsis for 275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL

Clinical Synopsis for 277590 WEAVER SYNDROME

Clinical Synopsis for 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

Clinical Synopsis for 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

Clinical Synopsis for 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Clinical Synopsis for 301500 FABRY DISEASE

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

Clinical Synopsis for 305400 FACIOGENITAL DYSPLASIA

Clinical Synopsis for 305600 FOCAL DERMAL HYPOPLASIA; DHOF

Clinical Synopsis for 308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB

Clinical Synopsis for 308300 INCONTINENTIA PIGMENTI; IP

Clinical Synopsis for 309400 MENKES DISEASE

Clinical Synopsis for 312300 REIFENSTEIN SYNDROME

Clinical Synopsis for 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1

March 17, 2005

New Entries:

609253 FEBRILE CONVULSIONS, FAMILIAL, 6; FEB6

609255 FEBRILE CONVULSIONS, FAMILIAL, 5; FEB5

Changed Entries:

114290 CAMPOMELIC DYSPLASIA

121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1

158370 MUCIN 2, INTESTINAL; MUC2

158810 MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES

159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL

160700 MYOPIA 2; MYP2

161550 NASOPHARYNGEAL CARCINOMA

161561 INTERLEUKIN 12B; IL12B

161800 NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1

162150 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1

162320 TACHYKININ 1; TAC1

163731 NITRIC OXIDE SYNTHASE 1; NOS1

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

164350 2-PRIME,5-PRIME-@OLIGOADENYLATE SYNTHETASE 1; OAS1

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

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

165230 GLI-KRUPPEL FAMILY MEMBER 2; GLI2

167420 PAIRED MESODERM HOMEOBOX 1; PMX1

168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4

170285 PERICENTRIN 1; PCNT1

170290 PERILIPIN; PLIN

170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

170710 PERIPHERIN; PRPH

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

172405 PHOSPHOLAMBAN; PLN

173510 CD36 ANTIGEN; CD36

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

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

176640 PRION PROTEIN; PRNP

176730 INSULIN; INS

176807 PROSTATE CANCER

176851 PROTEIN CARBOXYL METHYLTRANSFERASE 1; PCMT1

176940 S100 CALCIUM-BINDING PROTEIN A1; S100A1

176975 PROTEIN KINASE C, EPSILON; PRKCE

180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1

180200 RETINOBLASTOMA; RB1

180203 RETINOBLASTOMA-LIKE 2; RBL2

180220 RETINOIC ACID RECEPTOR, BETA; RARB

180246 RETINOID X RECEPTOR, BETA; RXRB

180247 RETINOID X RECEPTOR, GAMMA; RXRG

180300 RHEUMATOID ARTHRITIS; RA

182100 FUCOSYLTRANSFERASE 2; FUT2

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

182350 ATPase, Na+/K+ TRANSPORTING, ALPHA-3 POLYPEPTIDE; ATP1A3

184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1

185900 SYNDACTYLY, TYPE I

186357 SYNDECAN 3; SDC3

191170 TUMOR PROTEIN p53; TP53

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH

203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1

213700 CEREBROTENDINOUS XANTHOMATOSIS

601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE PROTEIN 1; CCL3L1

602476 MOVED TO 121210

602477 FEBRILE CONVULSIONS, FAMILIAL, 2; FEB2

604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4

604403 FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3

609127 MOVED TO 300516

Clinical Synopsis for 156550 KNIEST DYSPLASIA

Clinical Synopsis for 158350 COWDEN DISEASE; CD

Clinical Synopsis for 161200 NAIL-PATELLA SYNDROME; NPS

Clinical Synopsis for 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1

Clinical Synopsis for 166210 OSTEOGENESIS IMPERFECTA CONGENITA; OIC

Clinical Synopsis for 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP

Clinical Synopsis for 173800 POLAND SYNDROME

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

Clinical Synopsis for 177000 PROTOPORPHYRIA, ERYTHROPOIETIC

Clinical Synopsis for 177850 PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT; PXE

Clinical Synopsis for 180700 ROBINOW SYNDROME

Clinical Synopsis for 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS

Clinical Synopsis for 181450 ULNAR-MAMMARY SYNDROME; UMS

Clinical Synopsis for 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Clinical Synopsis for 187600 THANATOPHORIC DYSPLASIA; TD

Clinical Synopsis for 187601 THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

Clinical Synopsis for 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Clinical Synopsis for 191100 TUBEROUS SCLEROSIS; TS

Clinical Synopsis for 192350 VATER ASSOCIATION

Clinical Synopsis for 193500 WAARDENBURG SYNDROME, TYPE I; WS1

Clinical Synopsis for 194190 WOLF-HIRSCHHORN SYNDROME; WHS

Clinical Synopsis for 200610 ACHONDROGENESIS, TYPE II; ACG2

Clinical Synopsis for 203800 ALSTROM SYNDROME; ALMS

Clinical Synopsis for 205600 ANEMIA AND TRIPHALANGEAL THUMBS

Clinical Synopsis for 207410 ANTLEY-BIXLER SYNDROME; ABS

Clinical Synopsis for 208150 PENA-SHOKEIR SYNDROME, TYPE I

Clinical Synopsis for 210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY

Clinical Synopsis for 211750 C SYNDROME

Clinical Synopsis for 214800 CHARGE SYNDROME

March 17, 2005

Changed Entries:

102300 RESTLESS LEGS SYNDROME 1

102575 ACTININ, ALPHA-1; ACTN1

102681 ADDUCIN 2; ADD2

102775 ADENOSINE A1 RECEPTOR; ADORA1

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

107273 CD69 ANTIGEN; CD69

107400 PROTEASE INHIBITOR 1; PI

107741 APOLIPOPROTEIN E; APOE

108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1

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

109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3

112203 CD80 ANTIGEN; CD80

113705 BREAST CANCER 1 GENE; BRCA1

113810 BULLOUS PEMPHIGOID ANTIGEN 1; BPAG1

114025 CATENIN, ALPHA-2; CTNNA2

114480 BREAST CANCER

118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1

118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1

118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1

118445 CHOLECYSTOKININ B RECEPTOR; CCKBR

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

118507 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2

118510 CHOLINERGIC RECEPTOR, MUSCARINIC, 1; CHRM1

120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1

120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2

120250 COLLAGEN, TYPE VI, ALPHA-3; COL6A3

120361 MATRIX METALLOPROTEINASE 9; MMP9

120430 COLOBOMA OF OPTIC NERVE

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

123829 CYCLIN-DEPENDENT KINASE 4; CDK4

124092 INTERLEUKIN 10; IL10

128235 DYSTONIA 12; DYT12

130130 ELASTASE 2; ELA2

130410 ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE; ETFB

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1

134921 FIBROBLAST GROWTH FACTOR 6; FGF6

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

137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2

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

137800 GLIOMA OF BRAIN, FAMILIAL

138033 GLUCAGON RECEPTOR; GCGR

138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1

139320 GNAS COMPLEX LOCUS; GNAS

139395 GUSTDUCIN, ALPHA POLYPEPTIDE

140300 HASHIMOTO THYROIDITIS

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

141900 HEMOGLOBIN--BETA LOCUS; HBB

142200 HEMOGLOBIN, GAMMA A; HBG1

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

143100 HUNTINGTON DISEASE; HD

145500 HYPERTENSION, ESSENTIAL

146680 INSULIN-DEGRADING ENZYME; IDE

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

150210 LACTOTRANSFERRIN; LTF

151300 LEUCYL-CYSTINYL AMINOPEPTIDASE; LNPEP

151740 ANNEXIN A2; ANXA2

153100 LYMPHEDEMA, HEREDITARY, I

153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3

155255 MEDULLOBLASTOMA

194070 WILMS TUMOR 1; WT1

600185 BREAST CANCER 2 GENE; BRCA2

601143 DYNACTIN 1; DCTN1

Clinical Synopsis for 108300 STICKLER SYNDROME, TYPE I; STL1

Clinical Synopsis for 108720 ATELOSTEOGENESIS, TYPE I; AOI

Clinical Synopsis for 109400 BASAL CELL NEVUS SYNDROME; BCNS

Clinical Synopsis for 114290 CAMPOMELIC DYSPLASIA

Clinical Synopsis for 119600 CLEIDOCRANIAL DYSPLASIA; CCD

Clinical Synopsis for 130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM

Clinical Synopsis for 130650 BECKWITH-WIEDEMANN SYNDROME; BWS

Clinical Synopsis for 133700 EXOSTOSES, MULTIPLE, TYPE I

Clinical Synopsis for 133701 EXOSTOSES, MULTIPLE, TYPE II

Clinical Synopsis for 134780 FEMORAL-FACIAL SYNDROME; FFS

Clinical Synopsis for 142900 HOLT-ORAM SYNDROME; HOS

Clinical Synopsis for 146510 PALLISTER-HALL SYNDROME; PHS

Clinical Synopsis for 147791 JACOBSEN SYNDROME; JBS

Clinical Synopsis for 150230 LANGER-GIEDION SYNDROME; LGS

Clinical Synopsis for 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

Clinical Synopsis for 153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA

Clinical Synopsis for 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

Clinical Synopsis for 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

March 10, 2005

New Entries:

609200 MYOTILINOPATHY

609250 HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS,

609252 LIPASE I; LIPI

Changed Entries:

102300 RESTLESS LEGS SYNDROME 1

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

102680 ADDUCIN 1; ADD1

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

113000 BRACHYDACTYLY, TYPE B1; BDB1

127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA

139000 GRANULOSIS RUBRA NASI

145750 HYPERTRIGLYCERIDEMIA, FAMILIAL

146550 HYPOTRICHOSIS, MARIE UNNA TYPE

147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN

151100 LEOPARD SYNDROME

159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A

165162 ONCOGENE JUN-D; JUND

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1

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

182120 SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC

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

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

191100 TUBEROUS SCLEROSIS; TS

192340 ARGININE VASOPRESSIN; AVP

209850 AUTISM

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

276600 TYROSINE TRANSAMINASE DEFICIENCY

480000 SEX-DETERMINING REGION Y; SRY

600861 REGULATOR OF G PROTEIN SIGNALING 2; RGS2

601419 DESMINOPATHY, PRIMARY

601588 EPIDERMAL DIFFERENTIATION COMPLEX; EDC

602044 UNCOUPLING PROTEIN 3; UCP3

602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1

602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2

602866 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 2; ACCN2

603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3

603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1

604103 TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID

604362 LIM DOMAIN ONLY 7; LMO7

605046 UBIQUILIN 1; UBQLN1

605382 MOVED TO 167320

607365 LIPASE H; LIPH

607623 NPC1 GENE; NPC1

608032 MOVED TO 127500

608701 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 2; NMNAT2

608810 ALPHA-B CRYSTALLINOPATHY

609144 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR

609252 LIPASE I; LIPI

Clinical Synopsis for 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

Clinical Synopsis for 193530 WEYERS ACROFACIAL DYSOSTOSIS

Clinical Synopsis for 254450 MYELOFIBROSIS, FAMILIAL

Clinical Synopsis for 254700 MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE

Clinical Synopsis for 605382 MOVED TO 167320

March 9, 2005

New Entries:

609246 PYRIDOXAL PHOSPHATASE; PDXP

609247 RING FINGER PROTEIN 13; RNF13

609248 HECT DOMAIN AND RCC1-LIKE DOMAIN 4; HERC4

609249 HECT DOMAIN AND RCC1-LIKE DOMAIN 6; HERC6

609251 Fc RECEPTOR-LIKE PROTEIN 2

Clinical Synopsis for 603221 MYOPIA 3; MYP3

Clinical Synopsis for 607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA

Clinical Synopsis for 608474 MYOPIA 5

Changed Entries:

100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

103280 H19 GENE; H19

107741 APOLIPOPROTEIN E; APOE

120050 COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

129150 ECHO VIRUS 11 SENSITIVITY; E11S

136533 FORKHEAD BOX O1A; FOXO1A

136850 FUMARATE HYDRATASE; FH

137800 GLIOMA OF BRAIN, FAMILIAL

138275 GLUTAMIC ACID DECARBOXYLASE 2; GAD2

143100 HUNTINGTON DISEASE; HD

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

147460 SUPEROXIDE DISMUTASE 2; SOD2

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

147575 INTERFERON REGULATORY FACTOR 1; IRF1

147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1

148067 KERATIN 16; KRT16

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

153450 LYSOZYME; LYZ

166200 OSTEOGENESIS IMPERFECTA, TYPE I

171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1

175780 PORENCEPHALY, FAMILIAL

180300 RHEUMATOID ARTHRITIS; RA

180902 RYANODINE RECEPTOR 2; RYR2

189909 TRANSCRIPTION FACTOR 8; TCF8

192090 CADHERIN 1; CDH1

231100 HEMOCHROMATOSIS, NEONATAL

248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY

252010 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

253280 MUSCLE-EYE-BRAIN DISEASE; MEB

255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

300078 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1; NDUFA1

307030 HYPERGLYCEROLEMIA

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

600434 FATTY ACID-BINDING PROTEIN 4; FABP4

601022 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

602055 INSULIN-INDUCED GENE 1; INSIG1

602402 FORKHEAD BOX C2; FOXC2

602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1

602619 C-TERMINAL-BINDING PROTEIN 2; CTBP2

602621 COXSACKIEVIRUS AND ADENOVIRUS RECEPTOR; CXADR

602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A

603221 MYOPIA 3; MYP3

603261 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B

604481 SIRTUIN 3; SIRT3

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

605200 HECT DOMAIN AND RCC1-LIKE DOMAIN 3; HERC3

605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC

605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B

605878 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7; ZBTB7

605910 ANGIOPOIETIN-LIKE 4; ANGPTL4

606761 MALONYL-CoA DECARBOXYLASE; MLYCD

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

606829 FRDA GENE; FRDA

606891 Fc RECEPTOR HOMOLOG EXPRESSED IN B CELLS

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA

608056 LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY,

608242 HECT DOMAIN AND RCC1-LIKE DOMAIN 5; HERC5

608351 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 11; IGSF11

608474 MYOPIA 5

609249 HECT DOMAIN AND RCC1-LIKE DOMAIN 6; HERC6

Clinical Synopsis for 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS

March 8, 2005

New Entries:

609222 CEPHALOCELE, ATRETIC

609240 GERM CELL-SPECIFIC GENE 2; GSG2

609243 RETINOIC ACID EARLY TRANSCRIPT 1E; RAET1E

609244 RETINOIC ACID EARLY TRANSCRIPT 1G; RAET1G

609245 G PROTEIN SIGNALING MODULATOR 2; GPSM2

Changed Entries:

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107650 APNEA, OBSTRUCTIVE SLEEP

116946 CELL DIVISION CYCLE 27; CDC27

117143 CENTROMERIC PROTEIN E; CENPE

122470 CORNELIA DE LANGE SYNDROME; CDLS

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1

142445 NEUREGULIN 1; NRG1

147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1

147620 INTERLEUKIN 6; IL6

147670 INSULIN RECEPTOR; INSR

150330 LAMIN A/C; LMNA

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

153400 LYMPHEDEMA-DISTICHIASIS SYNDROME

155555 MELANOCORTIN 1 RECEPTOR; MC1R

157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1

159300 MUSICAL PERFECT PITCH

161400 NARCOLEPSY 1; NRCLP1

164770 COLONY-STIMULATING FACTOR 1 RECEPTOR; CSF1R

164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT

165720 OSTEOARTHRITIS

170650 PERIODONTITIS, JUVENILE; JPD

172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1

173510 CD36 ANTIGEN; CD36

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

176895 PROTEIN Z; PROZ

180390 RIBONUCLEOTIDE REDUCTASE, M2 SUBUNIT; RRM2

180630 DEAD/H BOX 5; DDX5

182282 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDES B AND B1; SNRPB

182940 SPINA BIFIDA

185430 CLUSTERIN; CLU

186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE

194050 WILLIAMS-BEUREN SYNDROME; WBS

221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

260800 PENTOSURIA

300017 FILAMIN A; FLNA

300377 DYSTROPHIN; DMD

300525 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 8; P2RY8

305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

535000 LEBER OPTIC ATROPHY

600041 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 2; P2RY2

600215 MICROFIBRILLAR-ASSOCIATED PROTEIN 1; MFAP1

600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD

600386 INHIBITOR OF DNA BINDING 2; ID2

600396 DEAD/H BOX 8; DDX8

600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST

600725 SONIC HEDGEHOG; SHH

600726 INDIAN HEDGEHOG; IHH

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

600846 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4

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

601023 VALOSIN-CONTAINING PROTEIN; VCP

601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION

601167 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 1; P2RY1

601752 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 1; ENTPD1

602039 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 10; EIF3S10

602365 CATHEPSIN C; CTSC

602402 FORKHEAD BOX C2; FOXC2

602503 FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS; FRAT1

602697 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 11; P2RY11

602732 GTPase-ACTIVATING PROTEIN, RHO, 1; ARHGAP1

602738 KARYOPHERIN BETA-1; KPNB1

602836 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 5; P2RX5

602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4

602901 KARYOPHERIN BETA-2; KPNB2

603028 TOLL-LIKE RECEPTOR 2; TLR2

603055 SKI-INTERACTING PROTEIN; SKIIP

603461 CELL DIVISION CYCLE 16, S. CEREVISIAE, HOMOLOG OF; CDC16

603521 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A-PRIME; SNRPA1

603531 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-1 SUBUNIT; AP1S1

603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A

603912 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 3; EIF3S3

603959 CLAUDIN 16; CLDN16

604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3

604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B

604856 LANGERHANS CELL HISTIOCYTOSIS

605006 FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS 2; FRAT2

605081 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 3; PSCD3

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

605403 TOLL-LIKE RECEPTOR 6; TLR6

605697 UL16-BINDING PROTEIN 1; ULBP1

605698 UL16-BINDING PROTEIN 2; ULBP2

605699 UL16-BINDING PROTEIN 3; ULBP3

605841 NARCOLEPSY 2

605941 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 1; SART1

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

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

606439 SPG3A GENE; SPG3A

606665 OPSIN 4; OPN4

606880 CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2

607060 PARKINSON DISEASE 8; PARK8

607283 LSM3 PROTEIN; LSM3

607284 LSM4 PROTEIN; LSM4

607285 LSM5 PROTEIN; LSM5

607286 LSM6 PROTEIN; LSM6

607287 LSM7 PROTEIN; LSM7

607288 LSM8 PROTEIN; LSM8

607483 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE

607887 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 4; CKLFSF4

608532 MORE THAN BLOOD, MOUSE, HOMOLOG OF

608546 DEAD/H BOX 48; DDX48

608592 CTD SMALL PHOSPHATASE-LIKE; CTDSPL

608711 CTD SMALL PHOSPHATASE 2; CTDSP2

Clinical Synopsis for 159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A

Clinical Synopsis for 165720 OSTEOARTHRITIS

March 4, 2005

New Entries:

300529 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 10; P2RY10

609237 IQ MOTIF-CONTAINING PROTEIN B1; IQCB1

609239 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 5; P2RY5

Changed Entries:

103500 TIETZ SYNDROME

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

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

124092 INTERLEUKIN 10; IL10

129190 ECTO-5-PRIME NUCLEOTIDASE; NT5E

134797 FIBRILLIN 1; FBN1

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

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

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

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

145000 HYPERPARATHYROIDISM 1; HRPT1

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

176640 PRION PROTEIN; PRNP

188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A

191170 TUMOR PROTEIN p53; TP53

223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

256850 GIANT AXONAL NEUROPATHY 1; GAN1

300038 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 4; P2RY4

300086 G PROTEIN-COUPLED RECEPTOR 23; GPR23

300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

300462 A-KINASE ANCHOR PROTEIN 14; AKAP14

600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25

600505 CASEIN KINASE I, ALPHA-1; CSNK1A1

600639 CASPASE 2, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP2

601211 CD97 ANTIGEN; CD97

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

601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH

601911 DISTAL-LESS HOMEOBOX 4; DLX4

602861 PLAKOPHILIN 2; PKP2

603247 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 2; SLC27A2

604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

605379 GAN GENE; GAN

606926 G PROTEIN-COUPLED RECEPTOR 92; GPR92

606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET

607326 SMITH-MCCORT DYSPLASIA; SMC

607393 HRPT2 GENE; HRPT2

607461 DYMECLIN; DYM

607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9

609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9

609228 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 3; NUDT3

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

March 3, 2005

New Entries:

609231 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 7; NUDT7

609232 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 12; NUDT12

609233 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 13; NUDT13

609234 EUKARYOTIC TRANSLATION INITIATION FACTOR 2A

609235 BR SERINE/THREONINE KINASE 1; BRSK1

609236 BR SERINE/THREONINE KINASE 2; BRSK2

609238 RAB GTPase-ACTIVATING PROTEIN 1-LIKE; RABGAP1L

Changed Entries:

100850 ACONITASE, MITOCHONDRIAL; ACO2

113705 BREAST CANCER 1 GENE; BRCA1

118850 CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA

126800 DUANE RETRACTION SYNDROME 1; DURS1

131195 ENDOGLIN; ENG

136351 FMS-RELATED TYROSINE KINASE 3; FLT3

136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR

136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB

136533 FORKHEAD BOX O1A; FOXO1A

147660 INTERFERON, ALPHA-1; IFNA1

151430 B-CELL CLL/LYMPHOMA 2; BCL2

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

175200 PEUTZ-JEGHERS SYNDROME; PJS

180200 RETINOBLASTOMA; RB1

188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A

209900 BARDET-BIEDL SYNDROME; BBS

215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA

253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1

254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN

256000 LEIGH SYNDROME; LS

260540 PARKINSON-DEMENTIA SYNDROME

260565 PEHO SYNDROME

266500 REFSUM DISEASE

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME

270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS

272120 SUDDEN INFANT DEATH SYNDROME

272800 TAY-SACHS DISEASE; TSD

277720 WHISTLING FACE SYNDROME, RECESSIVE FORM

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

300243 MENTAL RETARDATION, X-LINKED, SOUTH AFRICAN TYPE

300401 PROTEOLIPID PROTEIN 1; PLP1

300404 BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS,

300470 MELANOMA ANTIGEN, FAMILY D, 2; MAGED2

302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

304040 GAP JUNCTION PROTEIN, BETA-1; GJB1

307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS

308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

312080 PELIZAEUS-MERZBACHER DISEASE; PMD

312170 PYRUVATE DECARBOXYLASE DEFICIENCY

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

313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

516006 COMPLEX I, SUBUNIT ND6; MTND6

516060 ATP SYNTHASE 6; MTATP6

530000 KEARNS-SAYRE SYNDROME; KSS

535000 LEBER OPTIC ATROPHY

600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2

600174 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN; PITPN

600288 FORKHEAD BOX A2; FOXA2

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

600308 AQUAPORIN 4; AQP4

600374 BBS4 GENE; BBS4

600470 ZINC FINGER PROTEIN OF CEREBELLUM, 1; ZIC1

600501 ABCD SYNDROME

601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA

601197 TUBBY, MOUSE, HOMOLOG OF; TUB

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

601379 HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME

601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D

601459 PREPRONOCICEPTIN; PNOC

601536 ATHABASKAN BRAINSTEM DYSGENESIS; ABSD

601639 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, ALPHA; PRKACA

601653 EYES ABSENT 1; EYA1

601713 GLIA MATURATION FACTOR, BETA; GMFB

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA

602006 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2

602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX

602296 ADAPTOR-RELATED PROTEIN COMPLEX 4, MU-1 SUBUNIT; AP4M1

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602548 OPIOID RECEPTOR-LIKE 1; OPRL1

602666 MYOSIN XVA; MYO15A

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

603347 NEURONAL PAS DOMAIN PROTEIN 2; NPAS2

603516 SPINOCEREBELLAR ATAXIA 10; SCA10

603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L

603681 OTOFERLIN; OTOF

603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1

603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2

603970 PARANEOPLASTIC ANTIGEN MA2; PNMA2

604010 PARANEOPLASTIC ANTIGEN MA1; PNMA1

604214 CCM1 GENE; CCM1

604261 APG5-LIKE; APG5L

604431 POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE

604529 ORTHOPEDIA, DROSOPHILA, HOMOLOG OF; OTP

604605 HUNTINGTIN-ASSOCIATED PROTEIN-INTERACTING PROTEIN; HAPIP

605079 SAL-LIKE 3; SALL3

605103 NEUROMEDIN U; NMU

605339 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 2; FXR2

605901 STRESSCOPIN

605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15

606104 TUBULOPATHY, ENCEPHALOPATHY, AND LIVER FAILURE DUE TO COMPLEX III

606105 CHOLINE TRANSPORTER-LIKE PROTEIN 1

606150 FATTY ACID DESATURASE 3; FADS3

606156 SENER SYNDROME

606201 WFS1 GENE; WFS1

606214 SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4

606364 SPINOCEREBELLAR ATAXIA 16; SCA16

606519 PHACE ASSOCIATION

606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3

606684 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 7; FXYD7

606709 PROTEASE, SERINE, 12; PRSS12

606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

606892 SYNTAXIN 12; STX12

607014 HURLER SYNDROME

607174 MENINGIOMA, FAMILIAL

607330 LATHOSTEROLOSIS

607432 LISSENCEPHALY I; LIS1

607478 TRYPTOPHAN HYDROXYLASE 2; TPH2

607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD

607559 MAHOGUNIN, RING FINGER 1; MGRN1

607996 PREPRONEUROPEPTIDE B

607997 PREPRONEUROPEPTIDE W

608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY

608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT

608329 CHROMOSOME 11 OPEN READING FRAME 9; C11ORF9

608617 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER B; FAM3B

608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT

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

608849 KINASE-INTERACTING STATHMIN

609116 RESPIRATORY RHYTHMICITY IN SLEEP

609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1

609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY,

March 2, 2005

New Entries:

300527 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 10; NUDT10

300528 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 11; NUDT11

609228 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 3; NUDT3

609229 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 4; NUDT4

609230 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 5; NUDT5

Changed Entries:

104300 ALZHEIMER DISEASE; AD

104311 PRESENILIN 1; PSEN1

105830 ANGELMAN SYNDROME; AS

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

114550 HEPATOCELLULAR CARCINOMA

118850 CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR

136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME

190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1

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

202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1

214450 GRISCELLI SYNDROME, TYPE 1; GS1

236792 L-2-@HYDROXYGLUTARIC ACIDURIA

256850 GIANT AXONAL NEUROPATHY 1; GAN1

300307 T-BOX 22; TBX22

300377 DYSTROPHIN; DMD

300527 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 10; NUDT10

300528 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 11; NUDT11

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3

600721 D-2-@HYDROXYGLUTARICACIDURIA

601620 T-BOX 5; TBX5

601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

601721 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 3; BIRC3

601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY

601920 JAGGED 1; JAG1

602054 T-BOX 1; TBX1

602229 SRY-BOX 10; SOX10

602378 DYNAMIN 2; DNM2

602768 DELTA-LIKE 3; DLL3

603273 TUMOR PROTEIN p73-LIKE; TP73L

603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5

603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11

603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A

604614 T-BOX 19; TBX19

605083 FRIZZLED-RELATED PROTEIN; FRZB

606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B

606597 PAIRED BOX GENE 3; PAX3

606879 PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH

607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2

607624 GRISCELLI SYNDROME, TYPE 2; GS2

609026 CATARACT, AGE-RELATED CORTICAL

609192 LOEYS-DIETZ AORTIC ANEURYSM SYNDROME; LDAS

609196 MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN; MRAP

609197 GLUCOCORTICOID DEFICIENCY 3

609227 GRISCELLI SYNDROME, TYPE 3; GS3

Clinical Synopsis for 601419 DESMINOPATHY, PRIMARY

March 1, 2005

New Entries:

300524 KIAA2022

300525 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 8; P2RY8

300526 WD REPEAT-CONTAINING PROTEIN 45; WDR45

609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER

609224 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 1

609225 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 2

609226 WD REPEAT-CONTAINING PROTEIN 45-LIKE; WDR45L

609227 GRISCELLI SYNDROME, TYPE 3; GS3

Clinical Synopsis for 604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES

Clinical Synopsis for 606519 PHACE ASSOCIATION

Changed Entries:

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

140000 HAND-FOOT-UTERUS SYNDROME

147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

160777 MYOSIN VA; MYO5A

165070 FMS-RELATED TYROSINE KINASE 1; FLT1

176450 CURRARINO SYNDROME

176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA

176915 PROTEIN PHOSPHATASE 2A, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA

177650 PSEUDOEXFOLIATION OF THE LENS

178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC

189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1

204690 AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS

211980 LUNG CANCER

214450 GRISCELLI SYNDROME, TYPE 1; GS1

300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

300524 KIAA2022

300525 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 8; P2RY8

313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600635 THYROID TRANSCRIPTION FACTOR 1; TITF1

601121 PLACENTAL GROWTH FACTOR; PGF

601712 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2; BIRC2

601721 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 3; BIRC3

601865 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; PLOD2

602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1

604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES

605681 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1B; BAZ1B

605983 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, ALPHA; PPP2R1A

606416 CIAS1 GENE; CIAS1

606519 PHACE ASSOCIATION

606526 MELANOPHILIN; MLPH

606838 PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD

607624 GRISCELLI SYNDROME, TYPE 2; GS2

607632 PRESENILIN ENHANCER 2, C. ELEGANS, HOMOLOG OF; PSENEN

609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8

609194 CDK5 AND ABL ENZYME SUBSTRATE 1; CABLES1

Clinical Synopsis for 112500 BRACHYDACTYLY, TYPE A1; BDA1

Clinical Synopsis for 113000 BRACHYDACTYLY, TYPE B1; BDB1

Clinical Synopsis for 125400 DENTIN DYSPLASIA, TYPE I

Clinical Synopsis for 125420 DENTIN DYSPLASIA, TYPE II

Clinical Synopsis for 125490 DENTINOGENESIS IMPERFECTA 1; DGI1

Clinical Synopsis for 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III

Clinical Synopsis for 239500 HYPERPROLINEMIA, TYPE I

Clinical Synopsis for 604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES