PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for October, 2008

October 31, 2008

New Entries:

300747 STEROID SULFATASE; STS

Changed Entries:

107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1

109543 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2

125263 SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

145410 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT

184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1

271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE

300000 OPITZ GBBB SYNDROME, X-LINKED

300102 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 4; PNPLA4

300151 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE

300180 ARYLSULFATASE E; ARSE

300229 VARIABLY CHARGED, X CHROMOSOME; VCX

300500 ALBINISM, OCULAR, TYPE I; OA1

300532 VARIABLY CHARGED, X CHROMOSOME, 2; VCX2

300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A

300747 STEROID SULFATASE; STS

301780 ARYLSULFATASE C, ISOZYME F; ARSC2

302350 NANCE-HORAN SYNDROME; NHS

302910 CHLORIDE CHANNEL 4; CLCN4

302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

304050 AICARDI SYNDROME; AIC

306480 HALOACID DEHALOGENASE-LIKE HYDROLASE DOMAIN-CONTAINING 1A; HDHD1A

308100 ICHTHYOSIS, X-LINKED; XLI

308700 KALLMANN SYNDROME 1; KAL1

309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7

309900 MUCOPOLYSACCHARIDOSIS TYPE II

311860 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE II; PRPS2

312040 POLYMERASE, DNA, ALPHA; POLA

312095 SPLICING FACTOR, ARGININE/SERINE-RICH, 17A; SFRS17A

312865 SHORT STATURE HOMEOBOX; SHOX

313470 CD99 ANTIGEN; CD99

314700 XG BLOOD GROUP SYSTEM; XG

450000 MIC2 SURFACE ANTIGEN, Y-CHROMOSOMAL; MIC2Y

465000 SPLICING FACTOR, ARGININE/SERINE RICH, 17A; SFRS17A

605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2

607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

611542 ARYLSULFATASE B; ARSB

612222 GALACTOSAMINE-6-SULFATE SULFATASE; GALNS

October 30, 2008

New Entries:

300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA

612382 MEDIATOR COMPLEX SUBUNIT 10; MED10

612383 MEDIATOR COMPLEX SUBUNIT 11; MED11

612384 MEDIATOR COMPLEX SUBUNIT 18; MED18

612385 MEDIATOR COMPLEX SUBUNIT 19; MED19

Changed Entries:

107269 CD44 ANTIGEN; CD44

110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

123580 CRYSTALLIN, ALPHA-A; CRYAA

145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

155555 MELANOCORTIN 1 RECEPTOR; MC1R

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

161561 INTERLEUKIN 12B; IL12B

162200 NEUROFIBROMATOSIS, TYPE I; NF1

185620 SURFEIT 1; SURF1

185640 RIBOSOMAL PROTEIN L7a; RPL7A

185641 MEDIATOR COMPLEX SUBUNIT 22; MED22

188400 DIGEORGE SYNDROME; DGS

233420 GONADAL DYSGENESIS, XY TYPE

248200 STARGARDT DISEASE 1; STGD1

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300000 OPITZ SYNDROME

300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2

300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK

300337 HYPOMELANOSIS OF ITO; HMI

300746 COAGULATION FACTOR IX; F9

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7

600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4

602186 VGF, NERVE GROWTH FACTOR-INDUCIBLE; VGF

603649 CONE-ROD DYSTROPHY 7; CORD7

604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1

604479 SIRTUIN 1; SIRT1

605044 MEDIATOR COMPLEX SUBUNIT 27; MED27

605248 MUCOLIPIN 1; MCOLN1

607956 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 8, S. CEREVISIAE,

607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1

609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

610443 CHROMOSOME 17q21.31 MICRODELETION SYNDROME

610623 CATARACT, POSTERIOR POLAR, 4; CTPP4

611954 MICRO RNA 373; MIRN373

612259 INFLAMMATORY BOWEL DISEASE 16; IBD16

612261 INFLAMMATORY BOWEL DISEASE 17; IBD17

612262 INFLAMMATORY BOWEL DISEASE 18; IBD18

612278 INFLAMMATORY BOWEL DISEASE 19; IBD19

612288 INFLAMMATORY BOWEL DISEASE 20; IBD20

612354 INFLAMMATORY BOWEL DISEASE 21; IBD21

October 29, 2008

New Entries:

300748 G PROTEIN-COUPLED RECEPTOR 82; GPR82

612375 AXIN INTERACTOR, DORSALIZATION-ASSOCIATED; AIDA

612379 COLOBOMA, OCULAR, AND ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE

612380 INFLAMMATORY BOWEL DISEASE 22; IBD22

612381 INFLAMMATORY BOWEL DISEASE 23; IBD23

Changed Entries:

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

123450 CRI-DU-CHAT SYNDROME

124092 INTERLEUKIN 10; IL10

146110 HYPOGONADOTROPIC HYPOGONADISM

146390 CHROMOSOME 18p DELETION SYNDROME

147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN

147720 INTERLEUKIN 1-BETA; IL1B

147791 JACOBSEN SYNDROME; JBS

158170 CHROMOSOME 9p DELETION SYNDROME

162900 NEVUS, EPIDERMAL

182000 KERATOSIS, SEBORRHEIC

186200 SYNDACTYLY, TYPE IV

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

220400 JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

232220 GLYCOGEN STORAGE DISEASE Ib

246300 LEPROSY, SUSCEPTIBILITY TO

251255 MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300746 COAGULATION FACTOR IX; F9

301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR

600721 D-2-@HYDROXYGLUTARIC ACIDURIA

601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7

601801 TRANSCRIPTION FACTOR Sp2; SP2

601808 CHROMOSOME 18q DELETION SYNDROME

602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1

602215 DEFENSIN, BETA, 4; DEFB4

604241 CD2-ASSOCIATED PROTEIN; CD2AP

604519 INFLAMMATORY BOWEL DISEASE 3; IBD3

604840 FK506-BINDING PROTEIN 8; FKBP8

605102 MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2

605225 INFLAMMATORY BOWEL DISEASE 7; IBD7

605240 CHEMOKINE, CC MOTIF, LIGAND 28; CCL28

606232 CHROMOSOME 22q13.3 DELETION SYNDROME

606348 INFLAMMATORY BOWEL DISEASE 5; IBD5

606922 G PROTEIN-COUPLED RECEPTOR 80; GPR80

606924 MOVED TO 300748

607264 EPSIN 3; EPN3

607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3

607865 SET DOMAIN PROTEIN, BIFURCATED, 2; SETDB2

607866 CHRONIC LYMPHOCYTIC LEUKEMIA DELETION REGION GENE 6

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

607872 CHROMOSOME 1p36 DELETION SYNDROME

607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1

608507 MITOFUSIN 2; MFN2

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

608881 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING,

608882 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING,

609124 ZINC FINGER PROTEIN 385A; ZNF385A

609186 D-2-@HYDROXYGLUTARATE DEHYDROGENASE; D2HGDH

609435 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 13; NDUFA13

609625 CHROMOSOME 10q26 DELETION SYNDROME

609702 PROTEASOME-ASSEMBLING CHAPERONE 2; PSMG2

610075 ORM1-LIKE PROTEIN 3; ORMDL3

610144 TBC1 DOMAIN FAMILY, MEMBER 3B; TBC1D3B

610253 CHROMOSOME 9q34.3 DELETION SYNDROME

611081 INFLAMMATORY BOWEL DISEASE 10; IBD10

611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2

612083 MUSCLE STRENGTH QUANTITATIVE TRAIT LOCUS 1

612241 INFLAMMATORY BOWEL DISEASE 12; IBD12

612255 INFLAMMATORY BOWEL DISEASE 15; IBD15

612261 INFLAMMATORY BOWEL DISEASE 17; IBD17

612288 INFLAMMATORY BOWEL DISEASE 20; IBD20

612313 CHROMOSOME 2q32-q33 DELETION SYNDROME

612336 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL

612337 CHROMOSOME 1q43-q44 DELETION SYNDROME

612343 MUSICAL APTITUDE QUANTITATIVE TRAIT LOCUS

612344 ZINC FINGER PROTEIN 385B; ZNF385B

612345 CHROMOSOME 2q31.2 DELETION SYNDROME

612347 JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2

612348 THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN

612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE

612351 FORKHEAD BOX I3; FOXI3

612352 STAM-BINDING PROTEIN-LIKE 1; STAMBPL1

612354 INFLAMMATORY BOWEL DISEASE 21; IBD21

612355 MICAL C TERMINUS-LIKE PROTEIN; MICALCL

612356 HEPARIN COFACTOR II DEFICIENCY

612358 KININOGEN 1; KNG1

October 29, 2008

New Entries:

612357 MAJOR AFFECTIVE DISORDER 8; MAFD8

612371 MAJOR AFFECTIVE DISORDER 7; MAFD7

612372 MAJOR AFFECTIVE DISORDER 9; MAFD9

612376 ACUTE PROMYELOCYTIC LEUKEMIA; APL

612378 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13; SLEB13

Clinical Synopsis for 612336 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL

Clinical Synopsis for 612356 HEPARIN COFACTOR II DEFICIENCY

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML

103020 ADENYLATE KINASE 2; AK2

113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1

123450 CRI-DU-CHAT SYNDROME

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

126060 DIHYDROFOLATE REDUCTASE; DHFR

130130 ELASTASE 2; ELA2

136351 FMS-RELATED TYROSINE KINASE 3; FLT3

142360 HEPARIN COFACTOR II; HCF2

142408 MACROPHAGE STIMULATING 1; MST1

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

158371 MUCIN 3A, INTESTINAL; MUC3A

164009 NUCLEAR MITOTIC APPARATUS PROTEIN 1; NUMA1

164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1

174763 POLYMERASE, DNA, GAMMA; POLG

176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16

176880 PROTEIN S; PROS1

180200 RETINOBLASTOMA; RB1

180240 RETINOIC ACID RECEPTOR, ALPHA; RARA

190120 THYROID HORMONE RECEPTOR, ALPHA-1; THRA

191390 INFLAMMATORY BOWEL DISEASE 11; IBD11

194355 X BOX-BINDING PROTEIN 1; XBP1

264800 PSEUDOXANTHOMA ELASTICUM; PXE

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A

470000 RIBOSOMAL PROTEIN S4, Y-LINKED, 1; RPS4Y1

600759 PRESENILIN 2; PSEN2

600955 PROPROTEIN CONVERTASE 1/3 DEFICIENCY

601241 HISTONE DEACETYLASE 1; HDAC1

601253 CAVEOLIN 3; CAV3

601384 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS E; LY6E

601665 OBESITY

601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10

602457 FAS-ASSOCIATED VIA DEATH DOMAIN; FADD

602544 PARKIN; PARK2

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

603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B

604020 BASSOON, MOUSE, HOMOLOG OF; BSN

604383 GROWTH FACTOR-INDEPENDENT 1B; GFI1B

605284 TSC1 GENE; TSC1

605296 PROTEASOME-ASSEMBLING CHAPERONE 1; PSMG1

605765 DELETED IN LYMPHOCYTIC LEUKEMIA, 1; DLEU1

605766 DELETED IN LYMPHOCYTIC LEUKEMIA, 2; DLEU2

606466 PML-RARA TARGET GENE ENCODING AN ADAPTOR MOLECULE 1

606641 BODY MASS INDEX; BMI

607129 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING,

607218 INTERFERON REGULATORY FACTOR 5; IRF5

607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1

608160 SRY-BOX 9; SOX9

609625 CHROMOSOME 10q26 DELETION SYNDROME

609702 PROTEASOME-ASSEMBLING CHAPERONE 2; PSMG2

610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3

610767 AUTOPHAGY 16-LIKE 1; ATG16L1

611081 INFLAMMATORY BOWEL DISEASE 10; IBD10

611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8

611343 CHROMOSOME 9 OPEN READING FRAME 103; C9ORF103

611959 PROSTATE CANCER, HEREDITARY, 15; HPC15

612110 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9

612241 INFLAMMATORY BOWEL DISEASE 12; IBD12

612244 INFLAMMATORY BOWEL DISEASE 13; IBD13

612261 INFLAMMATORY BOWEL DISEASE 17; IBD17

612278 INFLAMMATORY BOWEL DISEASE 19; IBD19

612313 CHROMOSOME 2q32-q33 DELETION SYNDROME

612343 MUSICAL APTITUDE QUANTITATIVE TRAIT LOCUS

612356 HEPARIN COFACTOR II DEFICIENCY

612371 MAJOR AFFECTIVE DISORDER 7; MAFD7

612372 MAJOR AFFECTIVE DISORDER 9; MAFD9

612373 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 3: SLC29A3

612378 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13; SLEB13

Clinical Synopsis for 107300 ANTITHROMBIN III DEFICIENCY

Clinical Synopsis for 142360 HEPARIN COFACTOR II; HCF2

Clinical Synopsis for 176880 PROTEIN S; PROS1

October 27, 2008

New Entries:

612353 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4

612361 SCHIZOPHRENIA 13

612362 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12

612373 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 3: SLC29A3

612374 TRANSMEMBRANE PROTEIN 173; TMEM173

Changed Entries:

150330 LAMIN A/C; LMNA

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

158810 BETHLEM MYOPATHY

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

175850 POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED 1; PPPD1

175860 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP

175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1

176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16

181500 SCHIZOPHRENIA; SCZD

191100 TUBEROUS SCLEROSIS; TS

228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY

600867 SIGNAL SEQUENCE RECEPTOR, BETA; SSR2

602079 TRIMETHYLAMINURIA; TMAU

602080 PAGET DISEASE OF BONE; PDB

602253 KRUPPEL-LIKE FACTOR 4; KLF4

602902 KRUPPEL-LIKE FACTOR 9; KLF9

606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24

607536 CREB-REGULATED TRANSCRIPTION COACTIVATOR 1; CRTC1

607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1

608986 CREB-REGULATED TRANSCRIPTION COACTIVATOR 3; CRTC3

609830 ABDOMINAL BODY FAT DISTRIBUTION

612283 PROTEIN C; PROC

612361 SCHIZOPHRENIA 13

October 24, 2008

New Entries:

612083 MUSCLE STRENGTH QUANTITATIVE TRAIT LOCUS 1

612352 STAM-BINDING PROTEIN-LIKE 1; STAMBPL1

612358 KININOGEN 1; KNG1

Changed Entries:

109800 BLADDER CANCER

114020 CADHERIN 2; CDH2

123855 CYSTATIN 1; CST1

123858 CYSTATIN 5; CST5

123970 CYTOCHROME C, SOMATIC; CYCS

126060 DIHYDROFOLATE REDUCTASE; DHFR

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

126452 DOPAMINE RECEPTOR D4; DRD4

126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),

136132 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3

138680 ALPHA-2-HS-GLYCOPROTEIN; AHSG

143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE

146933 INTERLEUKIN 10 RECEPTOR, ALPHA; IL10RA

147421 INCLUSION BODY MYOSITIS

147910 KALLIKREIN 1; KLK1

158370 MUCIN 2, INTESTINAL; MUC2

163980 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 6; CEACAM6

164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA

164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1

184600 CYSTATIN A; CSTA

191390 INFLAMMATORY BOWEL DISEASE 11; IBD11

192975 INTEGRIN, ALPHA-4; ITGA4

209850 AUTISM

228960 HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY

234000 FACTOR XII DEFICIENCY

276903 MYOSIN VIIA; MYO7A

516020 CYTOCHROME b OF COMPLEX III; MTCYB

600060 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2; DFNB2

600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4

600565 NEUREXIN 1; NRXN1

601300 ACTIVIN A RECEPTOR, TYPE IB; ACVR1B

601891 CYSTATIN 6; CST6

602079 TRIMETHYLAMINURIA; TMAU

603206 SCHIZOPHRENIA 8; SCZD8

604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;

606247 STAM-BINDING PROTEIN; STAMBP

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

609224 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 1; WIPI1

609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH

609705 MICRO RNA 24-1; MIRN24-1

610619 COAGULATION FACTOR XII; F12

612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME

612352 STAM-BINDING PROTEIN-LIKE 1; STAMBPL1

612358 KININOGEN 1; KNG1

October 23, 2008

New Entries:

612355 MICAL C TERMINUS-LIKE PROTEIN; MICALCL

612356 HEPARIN COFACTOR II DEFICIENCY

Changed Entries:

105830 ANGELMAN SYNDROME; AS

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

142360 HEPARIN COFACTOR II; HCF2

147700 ISOCITRATE DEHYDROGENASE 1; IDH1

162900 NEVUS, EPIDERMAL

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

176270 PRADER-WILLI SYNDROME; PWS

182000 KERATOSIS, SEBORRHEIC

182290 SMITH-MAGENIS SYNDROME; SMS

300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

300425 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1

600565 NEUREXIN 1; NRXN1

600583 TEC PROTEIN TYROSINE KINASE; TEC

600721 D-2-@HYDROXYGLUTARIC ACIDURIA

601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1

602060 TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2

602081 SPEECH-LANGUAGE DISORDER 1; SPCH1

602229 SRY-BOX 10; SOX10

605213 3-@PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1

605264 SORBIN AND SH3-DOMAINS CONTAINING 1; SORBS1

605317 FORKHEAD BOX P2; FOXP2

607129 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING,

608212 IMMUNITY-RELATED GTPase FAMILY, M; IRGM

608232 LEUKEMIA, CHRONIC MYELOID; CML

608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

608881 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING,

608882 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING,

609186 D-2-@HYDROXYGLUTARATE DEHYDROGENASE; D2HGDH

609772 CORTACTIN-BINDING PROTEIN 2; CTTNBP2

610883 POTOCKI-LUPSKI SYNDROME; PTLS

611584 WAARDENBURG SYNDROME, TYPE IIE; WS2E

612278 INFLAMMATORY BOWEL DISEASE 19; IBD19

Clinical Synopsis for 300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1

Clinical Synopsis for 300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2

Clinical Synopsis for 608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2

October 22, 2008

New Entries:

612348 THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN

612354 INFLAMMATORY BOWEL DISEASE 21; IBD21

Changed Entries:

112500 BRACHYDACTYLY, TYPE A1; BDA1

114480 BREAST CANCER

116806 CATENIN, BETA-1; CTNNB1

121015 GAP JUNCTION PROTEIN, ALPHA-3; GJA3

136352 FMS-LIKE TYROSINE KINASE 4; FLT4

137800 GLIOMA OF BRAIN, FAMILIAL

147700 ISOCITRATE DEHYDROGENASE 1; IDH1

147910 KALLIKREIN 1; KLK1

153440 LYMPHOTOXIN-ALPHA; LTA

164220 SCHILBACH-ROTT SYNDROME OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE,

173350 PLASMINOGEN; PLG

173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT

176887 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 2; PTPN2

176920 PROTEUS SYNDROME

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

191160 TUMOR NECROSIS FACTOR; TNF

191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU

212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A

219700 CYSTIC FIBROSIS; CF

228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY

260350 PANCREATIC CARCINOMA

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300126 DYSKERIN; DKC1

300240 HOYERAAL-HREIDARSSON SYNDROME; HHS

600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D

600714 DUAL-SPECIFICITY PHOSPHATASE 1; DUSP1

600726 INDIAN HEDGEHOG; IHH

600807 ASTHMA, SUSCEPTIBILITY TO

601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5

601194 TOLL-LIKE RECEPTOR 1; TLR1

601317 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11

601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1

601885 CATARACT, ZONULAR PULVERULENT 3; CZP3

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

603031 TOLL-LIKE RECEPTOR 5; TLR5

603184 CYCLIN-DEPENDENT KINASE 8; CDK8

603894 REGULATOR OF G PROTEIN SIGNALING 6; RGS6

604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5

604519 INFLAMMATORY BOWEL DISEASE 3; IBD3

605305 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC

605779 NAIL DYSPLASIA, ISOLATED CONGENITAL

606000 BUTYROPHILIN-LIKE PROTEIN 2; BTNL2

608290 LELIS SYNDROME

608588 DEXH BOX POLYPEPTIDE 58; DHX58

612288 INFLAMMATORY BOWEL DISEASE 20; IBD20

612348 THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN

612349 PHENYLALANINE HYDROXYLASE; PAH

October 21, 2008

New Entries:

300746 COAGULATION FACTOR IX; F9

612349 PHENYLALANINE HYDROXYLASE; PAH

Changed Entries:

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

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

105830 ANGELMAN SYNDROME; AS

112260 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, BONE; BGLAP

113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

122700 COUMARIN RESISTANCE

140050 GRANZYME A; GZMA

142410 HNF1 HOMEOBOX A; HNF1A

146930 INTERLEUKIN 8; IL8

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1

160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC; MYH3

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

164980 FIBROBLAST GROWTH FACTOR 4; FGF4

176270 PRADER-WILLI SYNDROME; PWS

176895 PROTEIN Z; PROZ

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

184429 SRY-BOX 2; SOX2

188040 THROMBOMODULIN; THBD

189906 TRANSCRIPTION FACTOR Sp1; SP1

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

191091 TUBEROUS SCLEROSIS 3; TSC3

191290 TYROSINE HYDROXYLASE; TH

193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A

227500 FACTOR VII DEFICIENCY

227600 FACTOR X DEFICIENCY

240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1

261600 PHENYLKETONURIA; PKU

264300 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1

300377 DYSTROPHIN; DMD

300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

300624 FRAGILE X MENTAL RETARDATION SYNDROME

301200 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1

306700 HEMOPHILIA A

306900 HEMOPHILIA B; HEMB

307700 HYPOPARATHYROIDISM, X-LINKED; HYPX

311030 MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE; MCF2

311360 PREMATURE OVARIAN FAILURE 1; POF1

600346 POLYCOMB GROUP RING FINGER PROTEIN 2; PCGF2

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600582 ASPARTATE BETA-HYDROXYLASE; ASPH

600725 SONIC HEDGEHOG; SHH

600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12

601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B

602253 KRUPPEL-LIKE FACTOR 4; KLF4

602272 TRANSCRIPTION FACTOR 4; TCF4

603054 GREMLIN 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM1

604186 CHEMOKINE, CXC MOTIF, LIGAND 14; CXCL14

604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG

609093 F-BOX ONLY PROTEIN 15; FBXO15

610954 PITT-HOPKINS SYNDROME; PTHS

611670 INOSITOL-3-PHOSPHATE SYNTHASE 1; ISYNA1

612192 ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF; ZFP57

612349 PHENYLALANINE HYDROXYLASE; PAH

Clinical Synopsis for 256810 NAVAJO NEUROHEPATOPATHY; NN

October 20, 2008

New Entries:

612351 FORKHEAD BOX I3; FOXI3

Changed Entries:

118450 ALAGILLE SYNDROME 1; ALGS1

137960 MPV17, MOUSE, HOMOLOG OF; MPV17

189500 WITKOP SYNDROME

206800 ANONYCHIA CONGENITA

251255 MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM

254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL

276821 ULNAR HYPOPLASIA WITH MENTAL RETARDATION

604809 PANBRONCHIOLITIS, DIFFUSE

605104 ATAXIN 2-BINDING PROTEIN 1

605704 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAPB

608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8

610285 DOWNSTREAM OF TYROSINE KINASE 7; DOK7

610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4

612192 ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF; ZFP57

October 17, 2008

Changed Entries:

118450 ALAGILLE SYNDROME 1; ALGS1

123580 CRYSTALLIN, ALPHA-A; CRYAA

146300 HYPOPHOSPHATASIA, ADULT

152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5

161050 TWENTY-NAIL DYSTROPHY

168600 PARKINSON DISEASE; PD

171760 ALKALINE PHOSPHATASE, LIVER; ALPL

216400 COCKAYNE SYNDROME, TYPE A; CSA

241500 HYPOPHOSPHATASIA, INFANTILE

241510 HYPOPHOSPHATASIA, CHILDHOOD

601367 STROKE, ISCHEMIC

603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5

603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP

604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4

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

605550 RAS PROTEIN, DEXAMETHASONE-INDUCED, 1; RASD1

605551 NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN; NOS1AP

605779 NAIL DYSPLASIA, ISOLATED CONGENITAL

606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1

606348 INFLAMMATORY BOWEL DISEASE 5; IBD5

606799 STROKE, SUSCEPTIBILITY TO, 1

608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV

608465 SENATAXIN; SETX

608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2

610141 QT INTERVAL, VARIATION IN

Clinical Synopsis for 602080 PAGET DISEASE OF BONE; PDB

October 16, 2008

New Entries:

612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE

Clinical Synopsis for 300659 MENTAL RETARDATION, X-LINKED 93; MRX93

Changed Entries:

106210 ANIRIDIA; AN

109150 MACHADO-JOSEPH DISEASE; MJD

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

136850 FUMARATE HYDRATASE; FH

174500 POLYDACTYLY, PREAXIAL II; PPD2

186200 SYNDACTYLY, TYPE IV

191170 TUMOR PROTEIN p53; TP53

300306 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11; BMIQ11

300444 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 14;

300614 DEAFNESS, X-LINKED 5; DFNX5

300659 MENTAL RETARDATION, X-LINKED 93; MRX93

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

601367 STROKE, ISCHEMIC

602018 NEURTURIN; NRTN

603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP

605102 MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2

605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1

606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP

607108 PAIRED BOX GENE 6; PAX6

608124 XYLOSYLTRANSFERASE 1; XYLT1

608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1

608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2

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

608774 ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1; ANKK1

610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1

610542 MYASTHENIA, LIMB-GIRDLE, WITH TUBULAR AGGREGATES

610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7

612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE

Clinical Synopsis for 200500 ACHEIROPODY

Clinical Synopsis for 250215 METAPHYSEAL ACROSCYPHODYSPLASIA

October 15, 2008

New Entries:

Clinical Synopsis for 300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2

Changed Entries:

103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

106160 MOVED TO 106165

137168 GAMMA-GLUTAMYLTRANSFERASE 5; GGT5

139320 GNAS COMPLEX LOCUS; GNAS

146110 HYPOGONADOTROPIC HYPOGONADISM

147570 INTERFERON, GAMMA; IFNG

152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR

164160 LEPTIN; LEP

168600 PARKINSON DISEASE; PD

200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA

249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1

256810 NAVAJO NEUROHEPATOPATHY; NN

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2

601665 OBESITY

601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6

602783 SPG7 GENE; SPG7

603029 TOLL-LIKE RECEPTOR 3; TLR3

603202 LACTASE; LCT

603390 PHOSPHODIESTERASE 8B; PDE8B

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

603850 DYNAMIN 1-LIKE; DNM1L

603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

605078 TAR DNA-BINDING PROTEIN; TARDBP

605113 ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE; AASS

606463 GLUCOSIDASE, BETA, ACID; GBA

606641 BODY MASS INDEX; BMI

606642 MOVED TO 606641

606655 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 8; LGR8

606872 CAS-BR-M MURINE ECTOPIC RETROVIRAL TRANSFORMING SEQUENCE LIKE-1; CBLL1

606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE

607002 PROKINETICIN 2; PROK2

607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4

608071 F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4

609135 APLASTIC ANEMIA

609262 CEREBLON; CRBN

609625 CHROMOSOME 10q26 DELETION SYNDROME

610162 COILED-COIL DOMAIN-CONTAINING PROTEIN 28B; CCDC28B

610628 KALLMANN SYNDROME 4; KAL4

611414 CALRETICULIN 3; CALR3

611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9

612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10

612293 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 3

612309 COAGULATION FACTOR V; F5

612313 CHROMOSOME 2q32-q33 DELETION SYNDROME

612318 PSEUDOFOLLICULITIS BARBAE

612319 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35

612326 TRANSCRIPTION FACTOR 25; TCF25

612327 MANNOSIDASE, ENDO-ALPHA; MANEA

612328 COILED-COIL DOMAIN-CONTAINING PROTEIN 73: CCDC73

612329 MICRO RNA 30A; MIRN30A

612330 MICRO RNA 610; MIRN610

612331 LIN7, C. ELEGANS, HOMOLOG OF, B; LIN7B

612332 LIN7, C. ELEGANS, HOMOLOG OF, C; LIN7C

612333 PROGRAMMED CELL DEATH 11; PDCD11

612334 N-ACYL PHOSPHATIDYLETHANOLAMINE-HYDROLYZING PHOSPHOLIPASE D; NAPEPLD

612337 CHROMOSOME 1q43-q44 DELETION SYNDROME

612338 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 1; GGTLC1

612339 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 2; GGTLC2

612340 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 3; GGTLC3

612341 GAMMA-GLUTAMYLTRANSFERASE 6; GGT6

612342 GAMMA-GLUTAMYLTRANSFERASE 7; GGT7

612343 MUSICAL APTITUDE QUANTITATIVE TRAIT LOCUS

612346 GAMMA-GLUTAMYLTRANSFERASE 1; GGT1

Clinical Synopsis for 158330 MULLERIAN APLASIA AND HYPERANDROGENISM

Clinical Synopsis for 277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME

October 14, 2008

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML

106150 ANGIOTENSINOGEN; AGT

115442 CASEIN KINASE II, ALPHA-2; CSNK2A2

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

130160 ELASTIN; ELN

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

147570 INTERFERON, GAMMA; IFNG

147660 INTERFERON, ALPHA-1; IFNA1

165180 MAS1 ONCOGENE; MAS1

180240 RETINOIC ACID RECEPTOR, ALPHA; RARA

180300 RHEUMATOID ARTHRITIS; RA

189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA

300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2

300556 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2

313700 ANDROGEN RECEPTOR; AR

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

601118 CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG

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

604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1

604394 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-12; GNA12

604440 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR A; CIDEA

605541 VAV3 ONCOGENE; VAV3

606381 G PROTEIN-COUPLED RECEPTOR 91; GPR91

606449 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 3; PTP4A3

606818 DIPEPTIDYL PEPTIDASE III; DPP3

606832 ENDOPLASMIC RETICULUM AMINOPEPTIDASE 1; ERAP1

607218 INTERFERON REGULATORY FACTOR 5; IRF5

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

608451 ETHE1 GENE; ETHE1

608729 ANGIOTENSIN II RECEPTOR-ASSOCIATED PROTEIN; AGTRAP

609445 RELAXIN 3 RECEPTOR 1; RLN3R1

609589 MITOCHONDRIAL TUMOR SUPPRESSOR GENE 1; MTUS1

611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9

612074 RNA-BINDING MOTIF PROTEIN 28; RBM28

612120 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR C; CIDEC

October 13, 2008

New Entries:

612343 MUSICAL APTITUDE QUANTITATIVE TRAIT LOCUS

612347 JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML

125420 DENTIN DYSPLASIA, TYPE II

125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP

125490 DENTINOGENESIS IMPERFECTA 1; DGI1

147570 INTERFERON, GAMMA; IFNG

147920 KABUKI SYNDROME

151410 BREAKPOINT CLUSTER REGION; BCR

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA GENE; MLL

163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME

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

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU

192500 LONG QT SYNDROME 1; LQT1

220400 JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR

600648 NEVUS, EPIDERMAL, EPIDERMOLYTIC HYPERKERATOTIC TYPE

602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2

602445 PROTEASE INHIBITOR 12; PI12

602473 ENCEPHALOPATHY, ETHYLMALONIC

604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB

607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

608451 ETHE1 GENE; ETHE1

Clinical Synopsis for 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

October 10, 2008

New Entries:

612344 ZINC FINGER PROTEIN 385B; ZNF385B

612345 CHROMOSOME 2q31.2 DELETION SYNDROME

Clinical Synopsis for 612286 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1

Clinical Synopsis for 612287 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2

Clinical Synopsis for 612319 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35

Changed Entries:

125860 NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1

141250 HEME OXYGENASE 1; HMOX1

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

180860 SILVER-RUSSELL SYNDROME; SRS

191275 DOPACHROME TAUTOMERASE; DCT

300624 FRAGILE X MENTAL RETARDATION SYNDROME

600725 SONIC HEDGEHOG; SHH

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE

609124 ZINC FINGER PROTEIN 385A; ZNF385A

612337 CHROMOSOME 1q43-q44 DELETION SYNDROME

Clinical Synopsis for 106100 ANGIOEDEMA, HEREDITARY; HAE

Clinical Synopsis for 162091 SCHWANNOMATOSIS

Clinical Synopsis for 214100 ZELLWEGER SYNDROME; ZS

Clinical Synopsis for 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY

Clinical Synopsis for 239500 HYPERPROLINEMIA, TYPE I; HPI

Clinical Synopsis for 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY

Clinical Synopsis for 256000 LEIGH SYNDROME; LS

Clinical Synopsis for 260300 PARKINSONIAN-PYRAMIDAL SYNDROME

Clinical Synopsis for 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

Clinical Synopsis for 612286 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1

October 9, 2008

New Entries:

612336 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL

Changed Entries:

106200 MOVED TO 106210

107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL

109400 BASAL CELL NEVUS SYNDROME; BCNS

137070 FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA; FUS

150600 LEGG-CALVE-PERTHES DISEASE

155255 MEDULLOBLASTOMA; MDB

176860 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL

176880 PROTEIN S; PROS1

187930 COAGULATION FACTOR II RECEPTOR; F2R

188040 THROMBOMODULIN; THBD

188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE

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

191170 TUMOR PROTEIN p53; TP53

212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx

220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1

226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA

227310 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN

227600 FACTOR X DEFICIENCY

239500 HYPERPROLINEMIA, TYPE I; HPI

241090 HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA

246300 LEPROSY, SUSCEPTIBILITY TO

277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1

300500 ALBINISM, OCULAR, TYPE I; OA1

300535 OCRL GENE; OCRL

600582 ASPARTATE BETA-HYDROXYLASE; ASPH

601194 TOLL-LIKE RECEPTOR 1; TLR1

601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1

601367 STROKE, ISCHEMIC

601587 THYMOSIN, BETA-15

601626 LEUKEMIA, ACUTE MYELOID; AML

601841 PROTEIN C INHIBITOR; PCI

604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15

606395 PROLACTIN REGULATORY ELEMENT-BINDING PROTEIN; PREB

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

607463 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13-LIKE; PPP1R13L

607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME

608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY

612167 WD REPEAT-CONTAINING PROTEIN 48; WDR48

612259 INFLAMMATORY BOWEL DISEASE 16; IBD16

612278 INFLAMMATORY BOWEL DISEASE 19; IBD19

612283 PROTEIN C; PROC

612336 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL

Clinical Synopsis for 106200 MOVED TO 106210

October 8, 2008

New Entries:

612309 COAGULATION FACTOR V; F5

612337 CHROMOSOME 1qter DELETION SYNDROME

Clinical Synopsis for 612335 SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38

Changed Entries:

107320 ANTIPHOSPHOLIPID SYNDROME

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

116806 CATENIN, BETA-1; CTNNB1

117700 CERULOPLASMIN; CP

130590 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-1; EEF1A1

130592 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, DELTA; EEF1D

130593 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, GAMMA; EEF1G

134390 COAGULATION FACTOR III; F3

135150 BIRT-HOGG-DUBE SYNDROME; BHD

136535 FORMIN; FMN

139185 GROWTH ARREST-SPECIFIC 1; GAS1

142360 HEPARIN COFACTOR II; HCF2

142945 HOLOPROSENCEPHALY 3; HPE3

147796 JANUS KINASE 2; JAK2

148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

152200 APOLIPOPROTEIN(a); LPA

153240 SELECTIN L; SELL

162091 SCHWANNOMATOSIS

164280 FEINGOLD SYNDROME

164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1

164980 FIBROBLAST GROWTH FACTOR 4; FGF4

165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI

165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3

168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1

168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH

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

173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA

173610 SELECTIN P; SELP

176930 COAGULATION FACTOR II; F2

181500 SCHIZOPHRENIA; SCZD

182280 SMALL CELL CANCER OF THE LUNG

188040 THROMBOMODULIN; THBD

188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE

192350 VATER ASSOCIATION

214100 ZELLWEGER SYNDROME; ZS

227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D

227400 FACTOR V DEFICIENCY

227500 FACTOR VII DEFICIENCY

236100 HOLOPROSENCEPHALY

236200 HOMOCYSTINURIA

261600 PHENYLKETONURIA

262890 SCOTT SYNDROME

300037 GLYPICAN 3; GPC3

300265 ZINC FINGER PROTEIN OF CEREBELLUM, 3; ZIC3

300687 ERCC6-LIKE; ERCC6L

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2

600381 KINECTIN; KTN1

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600595 INTRAFLAGELLAR TRANSPORT 88, CHLAMYDOMONAS, HOMOLOG OF; IFT88

600646 PROTEIN C RECEPTOR; PROCR

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

600725 SONIC HEDGEHOG; SHH

600726 INDIAN HEDGEHOG; IHH

600850 SCHIZOPHRENIA 4; SCZD4

600880 BUDD-CHIARI SYNDROME

601153 FRAGILE HISTIDINE TRIAD GENE; FHIT

601367 STROKE, ISCHEMIC

601456 MULTIMERIN 1; MMRN1

601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH

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

601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

601709 QUEBEC PLATELET DISORDER; QPD

601791 PEROXISOME BIOGENESIS FACTOR 14; PEX14

602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8

602617 FORKHEAD BOX E1; FOXE1

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603046 RING FINGER PROTEIN 139; RNF139

603054 GREMLIN 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM1

603411 EFFECTOR CELL PROTEASE RECEPTOR 1; EPR1

603475 CHORDIN; CHRD

603673 PATCHED, DROSOPHILA, HOMOLOG OF, 2; PTCH2

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

603825 HYPERMETHYLATED IN CANCER 1; HIC1

604219 CATARACT, AUTOSOMAL DOMINANT

604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1

605913 BLEEDING DISORDER, EAST TEXAS TYPE

606189 CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1

606641 BODY MASS INDEX; BMI

606642 MOVED TO 606641

606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2; BMIQ2

607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607273 FOLLICULIN; FLCN

607386 SELECTIVE LIM-BINDING FACTOR, RAT, HOMOLOG OF

607432 LISSENCEPHALY 1; LIS1

607502 DISPATCHED, DROSOPHILA, HOMOLOG OF, 1; DISP1

607623 NPC1 GENE; NPC1

607661 SPERM-ASSOCIATED ANTIGEN 10; SPAG10

608290 LELIS SYNDROME

608486 METASTASIS SUPPRESSOR 1; MTSS1

608651 CENTAURIN, GAMMA-2; CENTG2

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

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

608708 BROTHER OF CDON; BOC

608922 ADP-RIBOSYLATION FACTOR-LIKE 13B; ARL13B

611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5

612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME

612014 TETRATRICOPEPTIDE REPEAT DOMAIN 21B; TTC21B

612205 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, B; ATG9B

612283 PROTEIN C; PROC

612309 COAGULATION FACTOR V; F5

October 7, 2008

New Entries:

612346 GAMMA-GLUTAMYLTRANSFERASE 1; GGT1

Changed Entries:

104150 ALPHA-FETOPROTEIN; AFP

106200 MOVED TO 106210

106210 ANIRIDIA; AN

129490 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED

129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT

136950 FURIN; FUR

137168 GAMMA-GLUTAMYLTRANSFERASE 5; GGT5

137181 GAMMA-GLUTAMYLTRANSFERASE 2; GGT2

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

168600 PARKINSON DISEASE; PD

171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4

176880 PROTEIN S, ALPHA; PROS1

177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1

183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO

191170 TUMOR PROTEIN p53; TP53

202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC

206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY

211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1

214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

224900 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE

225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

231950 GLUTATHIONURIA

235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2

254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1

260500 PAPILLOMA OF CHOROID PLEXUS

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

305100 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED

310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1

516005 COMPLEX I, SUBUNIT ND5; MTND5

516006 COMPLEX I, SUBUNIT ND6; MTND6

556500 PARKINSON DISEASE, MITOCHONDRIAL

601181 RAN-BINDING PROTEIN 2; RANBP2

602063 TRANSALDOLASE 1; TALDO1

602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3

602544 PARKIN; PARK2

603023 IKAROS FAMILY ZINC FINGER 1; IKZF1

604632 VAC14, S. CEREVISIAE, HOMOLOG OF; VAC14

604876 REGULATOR OF CALCINEURIN 2; RCAN2

604906 SCHIZOPHRENIA 9; SCZD9

605264 SORBIN AND SH3-DOMAINS CONTAINING 1; SORBS1

605314 HISTONE DEACETYLASE 4; HDAC4

605419 SCHIZOPHRENIA 10; SCZD10

605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2

605583 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25

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

606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD

606747 VASCULAR ENDOTHELIAL ZINC FINGER 1; VEZF1

606852 PARKINSON DISEASE 10; PARK10

606965 FAS-ACTIVATED SERINE/THREONINE KINASE; FASTK

607751 TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38

607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1

607987 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 10; DNAJC10

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3

608410 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7; BMIQ7

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

609168 SHUGOSHIN-LIKE 1; SGOL1

609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6

609482 ANTERIOR GRADIENT 3, XENOPUS, HOMOLOG OF; AGR3

609483 FAMILY WITH SEQUENCE SIMILARITY 84, MEMBER B; FAM84B

609484 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 3; LYPD3

609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6

611180 COFACTOR OF BRCA1; COBRA1

611206 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 9; DNAJC9

611576 MICRO RNA 10B; MIRN10B

612126 DYSTONIA 17; DYT17

612237 CHONDROSARCOMA, EXTRASKELETAL MYXOID

612242 CHROMOSOME 10q23 DELETION SYNDROME

612248 ZINC FINGER PROTEIN 627; ZNF627

612249 THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 7A; THSD7A

612250 G PROTEIN-COUPLED RECEPTOR 161: GPR161

612251 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10

612252 C-TYPE LECTIN DOMAIN FAMILY 9, MEMBER A; CLEC9A

612253 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11

612254 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12

612255 INFLAMMATORY BOWEL DISEASE 15; IBD15

612256 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1; MAST1

612257 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 2; MAST2

612258 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 3; MAST3

612259 INFLAMMATORY BOWEL DISEASE 16; IBD16

612260 MYD88 DEFICIENCY; MYD88D

612261 INFLAMMATORY BOWEL DISEASE 17; IBD17

612262 INFLAMMATORY BOWEL DISEASE 18; IBD18

612263 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7

612264 MANNOSE RECEPTOR, C-TYPE, 2; MRC2

612265 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER A; FAM120A

612266 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER B; FAM120B

612267 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10

612268 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 5; TTLL5

612270 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 4; CDCA4

612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11

612275 GAMETOGENETIN-BINDING PROTEIN 2; GGNBP2

612276 YRDC DOMAIN-CONTAINING PROTEIN; YRDC

612277 ADAMTS-LIKE PROTEIN 2; ADAMTSL2

612278 INFLAMMATORY BOWEL DISEASE 19; IBD19

612304 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL

612314 GLUTATHIONE S-TRANSFERASE, OMEGA-2; GSTO2

612315 KERATIN 6C; KRT6C

612316 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3A; ATAD3A

612317 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3B; ATAD3B

612320 CUB DOMAIN-CONTAINING PROTEIN 2; CDCP2

612321 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 5; DCDC5

612322 FAST KINASE DOMAINS 2; FASTKD2

612323 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 1, S. CEREVISIAE,

612324 COILED-COIL DOMAIN-CONTAINING PROTEIN 34; CCDC34

612325 INTESTINAL CELL KINASE; ICK

612338 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 1; GGTLC1

612339 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 2; GGTLC2

612340 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 3; GGTLC3

612341 GAMMA-GLUTAMYLTRANSFERASE 6; GGT6

612342 GAMMA-GLUTAMYLTRANSFERASE 7; GGT7

Clinical Synopsis for 106210 ANIRIDIA; AN

October 6, 2008

New Entries:

612338 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 1; GGTLC1

612339 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 2; GGTLC2

612340 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 3; GGTLC3

612341 GAMMA-GLUTAMYLTRANSFERASE 6; GGT6

612342 GAMMA-GLUTAMYLTRANSFERASE 7; GGT7

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

106210 ANIRIDIA; AN

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E

137168 GAMMA-GLUTAMYLTRANSFERASE 5; GGT5

143100 HUNTINGTON DISEASE; HD

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

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA

176710 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT,

176790 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB

206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY

262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS

307300 HYPOGONADISM, MALE

600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE

600725 SONIC HEDGEHOG; SHH

600843 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 3; P2RX3

601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH

603357 MEGSIN

603877 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER

604219 CATARACT, AUTOSOMAL DOMINANT

604229 PETERS ANOMALY

605164 HISTONE DEACETYLASE 2; HDAC2

605204 TORSIN-A; DYT1

605368 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3-LIKE; BNIP3L

605556 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE TRANSPORTER-LIKE), MEMBER

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

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24

606658 SPINOCEREBELLAR ATAXIA 15; SCA15

606872 CAS-BR-M MURINE ECTOPIC RETROVIRAL TRANSFORMING SEQUENCE LIKE-1; CBLL1

607108 PAIRED BOX GENE 6; PAX6

607151 MOYAMOYA DISEASE 2; MYMY2

611627 FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER A; FAM57A

611867 CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL

612322 FAST KINASE DOMAINS 2; FASTKD2

October 3, 2008

New Entries:

612335 SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38

Changed Entries:

138571 GLYCOGEN SYNTHASE 2; GYS2

182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

184850 STIFF-PERSON SYNDROME; SPS

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

211980 LUNG CANCER

300559 MUSCLE GLYCOGENOSIS, X-LINKED

311870 PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1

600308 AQUAPORIN 4; AQP4

604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12

606246 JUXTAPOSED WITH ANOTHER ZINC FINGER GENE 1; JAZF1

606247 STAM-BINDING PROTEIN; STAMBP

608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D

608507 MITOFUSIN 2; MFN2

608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1

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

609982 VACUOLAR PROTEIN SORTING 4, YEAST, HOMOLOG OF, A; VPS4A

610052 VACUOLAR PROTEIN SORTING 24, YEAST, HOMOLOG OF; VPS24

610893 CHMP FAMILY, MEMBER 2A; CHMP2A

October 2, 2008

New Entries:

612293 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 3

612318 PSEUDOFOLLICULITIS BARBAE

Changed Entries:

175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1

211980 LUNG CANCER

276000 PROTEASE, SERINE, 1; PRSS1

278150 WOOLLY HAIR, AUTOSOMAL RECESSIVE

600212 FATTY ACID SYNTHASE; FASN

603275 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, ALPHA; PIP5K1A

603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6

606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A

606626 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 1; DAAM1

606627 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 2; DAAM2

609025 KERATIN 75; KRT75

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

609763 PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, ALPHA; PI4K2A

611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3

October 1, 2008

New Entries:

612313 CHROMOSOME 2q32-q33 DELETION SYNDROME

612319 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35

Clinical Synopsis for 612227 DIABETES MELLITUS, KETOSIS-PRONE; KPD

Clinical Synopsis for 612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE

Changed Entries:

127750 DEMENTIA, LEWY BODY; DLB

179080 RAB GERANYLGERANYL TRANSFERASE, BETA SUBUNIT; RABGGTB

181750 SCLERODERMA, FAMILIAL PROGRESSIVE

223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

300306 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11; BMIQ11

600759 PRESENILIN 2; PSEN2

601693 UNCOUPLING PROTEIN 2; UCP2

602025 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9

603188 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8

606641 BODY MASS INDEX

606889 ALZHEIMER DISEASE 4

607461 DYMECLIN; DYM

607514 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10; BMIQ10

608410 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7; BMIQTL7

612227 DIABETES MELLITUS, KETOSIS-PRONE; KPD

612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE

October 1, 2008

New Entries:

612320 CUB DOMAIN-CONTAINING PROTEIN 2; CDCP2

612321 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 5; DCDC5

612322 FAST KINASE DOMAINS 2; FASTKD2

612323 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 1, S. CEREVISIAE,

612324 COILED-COIL DOMAIN-CONTAINING PROTEIN 34; CCDC34

612325 INTESTINAL CELL KINASE; ICK

612326 TRANSCRIPTION FACTOR 25; TCF25

612327 MANNOSIDASE, ENDO-ALPHA; MANEA

612328 COILED-COIL DOMAIN-CONTAINING PROTEIN 73: CCDC73

612329 MICRO RNA 30A; MIRN30A

612330 MICRO RNA 610; MIRN610

612331 LIN7, C. ELEGANS, HOMOLOG OF, B; LIN7B

612332 LIN7, C. ELEGANS, HOMOLOG OF, C; LIN7C

612333 PROGRAMMED CELL DEATH 11; PDCD11

612334 N-ACYL PHOSPHATIDYLETHANOLAMINE-HYDROLYZING PHOSPHOLIPASE D; NAPEPLD

Changed Entries:

100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2

112261 BONE MORPHOGENETIC PROTEIN 2; BMP2

129490 ECTODERMAL DYSPLASIA 3; ED3

143023 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 7; RASSF7

146510 PALLISTER-HALL SYNDROME; PHS

146738 INSULIN-LIKE 3; INSL3

147390 INHIBIN, BETA B; INHBB

153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF

155255 MEDULLOBLASTOMA; MDB

156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD

158330 MULLERIAN APLASIA AND HYPERANDROGENISM

160000 MYOGLOBIN; MB

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

168600 PARKINSON DISEASE; PD

174800 MCCUNE-ALBRIGHT SYNDROME; MAS

176860 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL

176930 COAGULATION FACTOR II; F2

179530 RAS-RELATED PROTEIN RAP1B; RAP1B

186590 SYNTAXIN 1A; STX1A

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

192350 VATER ASSOCIATION

192430 VELOCARDIOFACIAL SYNDROME

194080 DENYS-DRASH SYNDROME; DDS

202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS

239500 HYPERPROLINEMIA, TYPE I; HPI

241100 HYPOGONADISM, MALE

264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH

275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY

277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME

277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

277440 VITAMIN D-DEPENDENT RICKETS, TYPE II

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

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

300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

300247 BONE MORPHOGENETIC PROTEIN 15; BMP15

300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1

300689 START DOMAIN-CONTAINING PROTEIN 8; STARD8

312750 RETT SYNDROME; RTT

313700 ANDROGEN RECEPTOR; AR

600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2

600057 EXSTROPHY OF BLADDER

600426 E2F TRANSCRIPTION FACTOR 2; E2F2

600427 E2F TRANSCRIPTION FACTOR 3; E2F3

600487 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 4; PCSK4

600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22

600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5

600796 SPLICING FACTOR 3A, SUBUNIT 2; SF3A2

601076 MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A

601595 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 1; SMAD1

601663 ESTROGEN RECEPTOR 2; ESR2

601693 UNCOUPLING PROTEIN 2; UCP2

601694 LEPTIN SERUM LEVELS QUANTITATIVE TRAIT LOCUS 1; LEPQTL1

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601769 VITAMIN D RECEPTOR; VDR

602098 POLO-LIKE KINASE 1; PLK1

602288 RHOTEKIN; RTKN

602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1

602864 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9B; WNT9B

602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1

603072 AURORA KINASE A; AURKA

603174 HOMOCYSTEINEMIA

603188 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8

603380 LIN7, C. ELEGANS, HOMOLOG OF, A; LIN7A

603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4

603801 N-MYRISTOYLTRANSFERASE 2; NMT2

604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15

604492 VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1

605219 DIRECT IAP-BINDING PROTEIN WITH LOW pI; DIABLO

605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1

605573 17-@BETA HYDROXYSTEROID DEHYDROGENASE III; HSD17B3

605977 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 2, S. CEREVISIAE,

606058 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAPGEF4

606273 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3

606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7

606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 1; BMIQ1

606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2; BMIQ2

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

606852 PARKINSON DISEASE 10; PARK10

606933 TYROSINASE; TYR

606965 FAS-ACTIVATED SERINE/THREONINE KINASE; FASTK

607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU

607102 WT1 GENE; WT1

607446 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 3; BMIQ3

607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4

607688 PARKINSON DISEASE 11; PARK11

607740 UBIQUITIN-SPECIFIC PROTEASE 32; USP32

608160 SRY-BOX 9; SOX9

608558 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 5; BMIQ5

608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 6; BMIQ6

608978 MEACHAM SYNDROME

609297 SEMAPHORIN 5A; SEMA5A

609595 R-SPONDIN FAMILY, MEMBER 1; RSPO1

610569 UBIQUITIN-SPECIFIC PROTEASE 24; USP24

612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2

612259 INFLAMMATORY BOWEL DISEASE 16; IBD16

612262 INFLAMMATORY BOWEL DISEASE 18; IBD18

612298 TRIPARTITE MOTIF-CONTAINING PROTEIN 44; TRIM44

612320 CUB DOMAIN-CONTAINING PROTEIN 2; CDCP2

612323 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 1, S. CEREVISIAE,

612325 INTESTINAL CELL KINASE; ICK

612331 LIN7, C. ELEGANS, HOMOLOG OF, B; LIN7B

612332 LIN7, C. ELEGANS, HOMOLOG OF, C; LIN7C

612333 PROGRAMMED CELL DEATH 11; PDCD11

Clinical Synopsis for 229200 BRITTLE CORNEA SYNDROME; BCS