PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for November, 2007

November 30, 2007

New Entries:

611639 GATA-LIKE PROTEIN 1

611640 FIBRONECTIN TYPE III AND ANKYRIN REPEAT DOMAINS 1; FANK1

Changed Entries:

102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1

114760 CARBONIC ANHYDRASE IV; CA4

116810 CATHEPSIN B; CTSB

120200 COLOBOMA, OCULAR

120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2

120250 COLLAGEN, TYPE VI, ALPHA-3; COL6A3

120280 COLLAGEN, TYPE XI, ALPHA-1; COL11A1

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

137167 GAMMA-GLUTAMYL CARBOXYLASE; GGCX

138040 GLUCOCORTICOID RECEPTOR; GCCR

142763 H2A HISTONE FAMILY, MEMBER Z; H2AFZ

155760 AGGRECAN 1; AGC1

164005 NUCLEAR FACTOR I/X; NFIX

176797 ZINC FINGER PROTEIN 145; ZNF145

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

182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF

242300 ICHTHYOSIS, LAMELLAR, 1; LI1

248910 MASTOCYTOSIS, CUTANEOUS, WITH SHORT STATURE, CONDUCTIVE HEARING LOSS

251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY

253220 MUCOPOLYSACCHARIDOSIS TYPE VII

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300678 DUAL-SPECIFICITY PHOSPHATASE 21; DUSP21

309400 MENKES DISEASE

309550 FMR1 GENE; FMR1

312750 RETT SYNDROME; RTT

535000 LEBER OPTIC ATROPHY

600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH

600725 SONIC HEDGEHOG; SHH

600852 RETINITIS PIGMENTOSA 17; RP17

602964 TRANSLIN-ASSOCIATED FACTOR X; TSNAX

604596 CMT1A DUPLICATED REGION TRANSCRIPT 1; CDRT1

604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK

605103 NEUROMEDIN U; NMU

605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1

605278 CARBOXYLESTERASE 2; CES2

605545 CD163 ANTIGEN; CD163

607971 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 15;

608400 USH2A GENE; USH2A

609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1

610286 LEUCINE CARBOXYL METHYLTRANSFERASE 1; LCMT1

611421 SNF2-RELATED CBP ACTIVATOR PROTEIN

611446 DUAL-SPECIFICITY PHOSPHATASE 18; DUSP18

611475 RNA POLYMERASE II-ASSOCIATED PROTEIN 1; RPAP1

611476 RNA POLYMERASE II-ASSOCIATED PROTEIN 2; RPAP2

611477 RNA POLYMERASE II-ASSOCIATED PROTEIN 3; RPAP3

611479 XPA-BINDING PROTEIN 1; XAB1

November 29, 2007

New Entries:

611637 PRIMARY LATERAL SCLEROSIS, ADULT

611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5

Changed Entries:

120200 COLOBOMA, OCULAR

173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA

179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51

180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG

182880 SPERM PROTAMINE P1; PRM1

187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5

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

190231 TRANSITION PROTEIN 1; TNP1

193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI

201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF

268000 RETINITIS PIGMENTOSA; RP

300128 UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON X CHROMOSOME;

300304 CULLIN 4B; CUL4B

300345 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1; MCOPCB1

309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

600725 SONIC HEDGEHOG; SHH

600751 SIALOADHESIN; SN

600777 TRANSCRIPTION TERMINATION FACTOR, RNA POLYMERASE I; TTF1

600781 PEPTIDE YY; PYY

600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1

601128 H3 HISTONE, FAMILY 3A; H3F3A

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601293 RAS HOMOLOG ENRICHED IN BRAIN 2; RHEB2

602115 FIBROBLAST GROWTH FACTOR 10; FGF10

602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2

602278 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4;

603070 RAD51-ASSOCIATED PROTEIN 1; RAD51AP1

604123 RIBONUCLEASE H1; RNASEH1

604479 SIRTUIN 1; SIRT1

604840 FK506-BINDING PROTEIN 8; FKBP8

604914 JUMONJI DOMAIN CONTAINING 6; JMJD6

605317 FORKHEAD BOX P2; FOXP2

605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4

605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2

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

606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ

606407 HYPOTONIA-CYSTINURIA SYNDROME

607772 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 1;

608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV

608400 USH2A GENE; USH2A

608452 PLATELET-DERIVED GROWTH FACTOR C; PDGFC

609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL

610225 RIBOSOMAL PROTEIN S19 BINDING PROTEIN 1; RPS19BP1

610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4

611313 LOC387715 GENE

611512 JUMONJI DOMAIN-CONTAINING PROTEIN 1A; JMJD1A

611550 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3

611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6

611634 FEBRILE CONVULSIONS, FAMILIAL, 9; FEB9

Clinical Synopsis for 606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ

Clinical Synopsis for 606407 HYPOTONIA-CYSTINURIA SYNDROME

November 28, 2007

New Entries:

611630 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE; FMTLE

611631 EPILEPSY, OCCIPITOTEMPORAL LOBE, AND MIGRAINE WITH AURA

611632 UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1

611633 RTF1, S. CEREVISIAE, HOMOLOG OF; RTF1

611634 FEBRILE CONVULSIONS, FAMILIAL, 9; FEB9

611635 NEUROGENIC DIFFERENTIATION 4; NEUROD4

611636 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE 2; NAALAD2

Changed Entries:

107271 CD59 ANTIGEN P18-20; CD59

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

114480 BREAST CANCER

116810 CATHEPSIN B; CTSB

120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1

121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1

137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG

162200 NEUROFIBROMATOSIS, TYPE I; NF1

179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1

179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

179830 RENAL TUBULAR ACIDOSIS, PROXIMAL

180200 RETINOBLASTOMA; RB1

190160 THYROID HORMONE RECEPTOR, BETA; THRB

190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2

191160 TUMOR NECROSIS FACTOR; TNF

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

300104 GDP DISSOCIATION INHIBITOR 1; GDI1

600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1

600577 LIM HOMEOBOX GENE 3; LHX3

600934 FOLATE HYDROLASE 1; FOLH1

602640 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 1; NAALADL1

603054 GREMLIN 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM1

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

603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1

603432 CYTOPLASMIC LINKER 2; CYLN2

603968 POLYMERASE, DNA, ETA; POLH

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

604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1

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

604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE

604356 DUANE RETRACTION SYNDROME 2

605537 ACTIVATING TRANSCRIPTION FACTOR 6; ATF6

606348 INFLAMMATORY BOWEL DISEASE 5; IBD5

606358 ANTERIOR GRADIENT 2, XENOPUS, HOMOLOG OF; AGR2

606360 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8A; WNT8A

606624 NEUROGENIN 2; NEUROG2

607026 NEURON NAVIGATOR 2; NAV2

608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2

608189 TROPICAL CALCIFIC PANCREATITIS

608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2

609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2

610887 POLYMERASE, DNA, NU; POLN

610962 SMG5, C. ELEGANS, HOMOLOG OF; SMG5

610963 SMG6, C. ELEGANS, HOMOLOG OF; SMG6

610964 SMG7, C. ELEGANS, HOMOLOG OF; SMG7

611162 MALARIA, SUSCEPTIBILITY TO

611543 CAVITARY OPTIC DISC ANOMALIES

611627 FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER A; FAM57A

611629 NEURON NAVIGATOR 3; NAV3

611635 NEUROGENIC DIFFERENTIATION 4; NEUROD4

November 27, 2007

New Entries:

611622 IQ MOTIF-CONTAINING PROTEIN J; IQCJ

611625 CHROMOSOME 20 OPEN READING FRAME 11; C20ORF11

611626 M-PHASE PHOSPHOPROTEIN 8; MPHOSPH8

611627 FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER A; FAM57A

611628 NEURON NAVIGATOR 1; NAV1

611629 NEURONAL NAVIGATOR 3; NAV3

Clinical Synopsis for 611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X

Clinical Synopsis for 611618 ARTHROPATHY, TENDINOUS CALCINOSIS, AND PROGEROID FEATURES

Changed Entries:

114550 HEPATOCELLULAR CARCINOMA

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

133430 ESTROGEN RECEPTOR 1; ESR1

137215 GASTRIC CANCER

141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME

151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

300658 NDP GENE; NDP

305390 EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2

601181 RAN-BINDING PROTEIN 2; RANBP2

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

603854 RAN-BINDING PROTEIN 9; RANBP9

604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1

605623 MUSKELIN 1; MKLN1

606705 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 36; DFNA36

606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1

607060 PARKINSON DISEASE 8; PARK8

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X

611618 ARTHROPATHY, TENDINOUS CALCINOSIS, AND PROGEROID FEATURES

Clinical Synopsis for 253280 MUSCLE-EYE-BRAIN DISEASE; MEB

November 26, 2007

New Entries:

611588 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M

611612 THIAMINE TRIPHOSPHATASE; THTPA

611613 KDEL MOTIF-CONTAINING 1; KDELC1

611614 UTP3, S. CEREVISIAE, HOMOLOG OF; UTP3

611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X

611616 NAD KINASE; NADK

611617 EF-HAND DOMAIN FAMILY, MEMBER D1; EFHD1

611618 ARTHROPATHY, TENDINOUS CALCINOSIS, AND PROGEROID FEATURES

611619 MICRO RNA 877; MIRN877

611620 MICRO RNA 1224; MIRN1224

611621 MICRO RNA 1225; MIRN1225

611623 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 1; NECAP1

611624 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 2; NECAP2

Changed Entries:

104311 PRESENILIN 1; PSEN1

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1

147183 RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA,

147790 IMMUNOGLOBULIN J POLYPEPTIDE, LINKER PROTEIN FOR IMMUNOGLOBULIN ALPHA

150330 LAMIN A/C; LMNA

151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

164210 HEMIFACIAL MICROSOMIA; HFM

236670 WALKER-WARBURG SYNDROME

252650 MUCOLIPIDOSIS IV

253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD

254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H

300392 WAS GENE; WAS

301000 WISKOTT-ALDRICH SYNDROME; WAS

600759 PRESENILIN 2; PSEN2

603429 ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 1; ABCF1

604479 SIRTUIN 1; SIRT1

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

606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C

606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1

607194 PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT; PTF1A

607400 MUCOLIPIN 3; MCOLN3

607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1

607439 PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2

607440 FUKUTIN; FKTN

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

611613 KDEL MOTIF-CONTAINING 1; KDELC1

611623 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 1; NECAP1

November 21, 2007

New Entries:

611610 PHOSPHOGLUCOMUTASE 2-LIKE 1; PGM2L1

611611 S-PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM;

Changed Entries:

123620 CRYSTALLIN, BETA-B2; CRYBB2

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

172000 PHOSPHOGLUCOMUTASE 2; PGM2

300304 CULLIN 4B; CUL4B

300639 MENTAL RETARDATION, X-LINKED, WITH BRACHYDACTYLY AND MACROGLOSSIA

604307 CATARACT, COPPOCK-LIKE; CCL

607133 CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES

608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO

611610 PHOSPHOGLUCOMUTASE 2-LIKE 1; PGM2L1

611611 S-PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM;

November 20, 2007

New Entries:

611604 ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 1; ERLIN1

611605 ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 2; ERLIN2

611606 MICRO RNA 96; MIRN96

611607 MICRO RNA 182; MIRN182

611608 MICRO RNA 183; MIRN183

611609 SIPA1-LIKE PROTEIN 2; SIPA1L2

Changed Entries:

102540 ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1

110900 BLOOD GROUP--KELL-CELLANO SYSTEM; KEL

120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

134720 FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF

137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG

142445 NEUREGULIN 1; NRG1

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

142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1

144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

150330 LAMIN A/C; LMNA

155555 MELANOCORTIN 1 RECEPTOR; MC1R

155720 MELANOMA, UVEAL

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

176830 PROOPIOMELANOCORTIN; POMC

180100 RETINITIS PIGMENTOSA 1; RP1

180380 RHODOPSIN; RHO

216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL

232400 GLYCOGEN STORAGE DISEASE III

250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I

277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE

300389 RETINITIS PIGMENTOSA 3; RP3

306700 HEMOPHILIA A

306900 HEMOPHILIA B; HEMB

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600138 RETINITIS PIGMENTOSA 11; RP11

600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH

601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4

601802 HOMEOBOX GENE EXPRESSED IN ES CELLS; HESX1

601918 GROWTH/DIFFERENTIATION FACTOR 9; GDF9

602104 SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2

603937 RP1 GENE; RP1

604116 CONE-ROD DYSTROPHY 3; CORD3

606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31

607331 RP9 GENE; RP9

609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36

609826 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER

609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G

610624 ADP-RIBOSYLHYDROLASE-LIKE 2; ADPRHL2

610934 NEWBORN OVARY HOMEOBOX, MOUSE, HOMOLOG OF; NOBOX

611186 MICRO RNA 9-1; MIRN9-1

611500 MICRO RNA 219-1; MIRN219-1

November 19, 2007

New Entries:

611600 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 3; RIMS3

611601 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 4; RIMS4

611602 RIMS-BINDING PROTEIN 2; RIMBP2

Clinical Synopsis for 611597 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1

Changed Entries:

116200 CATARACT, ZONULAR PULVERULENT 1; CZP1

116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM

123690 CRYSTALLIN, GAMMA-D; CRYGD

147791 JACOBSEN SYNDROME; JBS

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

176982 PROTEIN KINASE C, ZETA FORM; PRKCZ

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

190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

257320 LISSENCEPHALY 2; LIS2

300067 LISSENCEPHALY, X-LINKED, 1; LISX1

300121 DOUBLECORTIN; DCX

300215 LISSENCEPHALY, X-LINKED, 2; LISX2

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

309550 FMR1 GENE; FMR1

590070 TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600431 CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

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

602430 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 1; ROBO1

603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3

603850 DYNAMIN 1-LIKE; DNM1L

604307 CATARACT, COPPOCK-LIKE; CCL

604873 EPITHELIAL V-LIKE ANTIGEN 1; EVA1

605093 SH2B ADAPTOR PROTEIN 3; SH2B3

606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1

606630 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 2; RIMS2

608687 SPINOCEREBELLAR ATAXIA 20; SCA20

609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2

610764 BENZODIAZAPINE RECEPTOR (PERIPHERAL)-ASSOCIATED PROTEIN 1; BZRAP1

611303 C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A

611597 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1

611600 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 3; RIMS3

611602 RIMS-BINDING PROTEIN 2; RIMBP2

November 16, 2007

New Entries:

611560 JOUBERT SYNDROME 7; JBTS7

611561 MECKEL SYNDROME, TYPE 5; MKS5

611599 MICRO RNA 206; MIRN206

Changed Entries:

100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1

114480 BREAST CANCER

116150 CATARACT-MICROCORNEA SYNDROME

120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1

147760 INTERLEUKIN 1-ALPHA; IL1A

153440 LYMPHOTOXIN-ALPHA; LTA

162320 TACHYKININ 1; TAC1

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176807 PROSTATE CANCER

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

189907 HNF1 HOMEOBOX B; HNF1B

213300 JOUBERT SYNDROME 1; JBTS1

230500 GM1-GANGLIOSIDOSIS, TYPE I

249000 MECKEL SYNDROME, TYPE 1; MKS1

254200 MYASTHENIA GRAVIS; MG

600897 GAP JUNCTION PROTEIN, ALPHA-8; GJA8

601342 CHROMOSOME SEGREGATION 1-LIKE; CSE1L

601565 INTERFERON CONSENSUS SEQUENCE-BINDING PROTEIN 1; ICSBP1

602617 FORKHEAD BOX E1; FOXE1

604300 2-@HYDROXYACYL-CoA LYASE 1; HACL1

607358 AUTOIMMUNE REGULATOR; AIRE

607643 FASCIN, SEA URCHIN, HOMOLOG OF, 2; FSCN2

608656 PROSTATE CANCER, HEREDITARY, 3

610175 MICRO RNA 130A; MIRN130A

610937 RPGRIP1-LIKE; RPGRIP1L

610988 LEPROSY, SUSCEPTIBILITY TO, 4

November 15, 2007

New Entries:

611597 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1

Changed Entries:

102530 GLOBOZOOSPERMIA

113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2

141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME

147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

246530 LEUKOTRIENE C4 SYNTHASE; LTC4S

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300392 WAS GENE; WAS

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

600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME

601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1

601652 MYOCILIN; MYOC

602272 TRANSCRIPTION FACTOR 4; TCF4

602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1

603212 BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2

603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1

604219 CATARACT, AUTOSOMAL DOMINANT

604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B

605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL

605248 MUCOLIPIN 1; MCOLN1

605619 INTERLEUKIN 20; IL20

606158 BSCL2 GENE; BSCL2

606989 MYELOPEROXIDASE; MPO

607410 DIENCEPHALON/MESENCEPHALON HOMEOBOX 1; DMBX1

608212 IMMUNITY-RELATED GTPase FAMILY, M; IRGM

611172 MICRO RNA 34A; MIRN34A

611543 CAVITARY OPTIC DISC ANOMALIES

611597 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1

November 14, 2007

New Entries:

611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

102530 GLOBOZOOSPERMIA

106165 ANGIOTENSIN RECEPTOR 1; AGTR1

108770 ATRIAL STANDSTILL

114835 CARBOXYLESTERASE 1; CES1

119540 CLEFT PALATE, ISOLATED; CPI

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

126375 DNA METHYLTRANSFERASE 1; DNMT1

129490 ECTODERMAL DYSPLASIA 3; ED3

141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1

142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5

142720 HISTONE 2, H2AA; HIST2H2AA

143054 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 2; HIVEP2

147450 SUPEROXIDE DISMUTASE 1; SOD1

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

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

166490 SECRETED PHOSPHOPROTEIN 1; SPP1

176807 PROSTATE CANCER

180300 RHEUMATOID ARTHRITIS; RA

181000 SARCOIDOSIS

181031 S-ANTIGEN; SAG

182452 SOMATOSTATIN RECEPTOR 2; SSTR2

187500 TETRALOGY OF FALLOT

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

192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY

193200 VITILIGO

211750 C SYNDROME

212750 CELIAC DISEASE; CD

215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD

217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM

235200 HEMOCHROMATOSIS; HFE

236670 WALKER-WARBURG SYNDROME

252010 MITOCHONDRIAL COMPLEX I DEFICIENCY

255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE

257980 ODONTOONYCHODERMAL DYSPLASIA; OODD

259775 RAINE SYNDROME; RNS

300379 RING FINGER PROTEIN 12; RNF12

300600 ALAND ISLAND EYE DISEASE; AIED

300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

300680 PREGNANCY-UPREGULATED, NONUBIQUITOUS, CAM KINASE; PNCK

600002 EIKEN SKELETAL DYSPLASIA

600726 INDIAN HEDGEHOG; IHH

601007 LEPTIN RECEPTOR; LEPR

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

601367 STROKE, ISCHEMIC

601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1

601906 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10B; WNT10B

602012 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 2; ENTPD2

602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2

602272 TRANSCRIPTION FACTOR 4; TCF4

602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

603649 CONE-ROD DYSTROPHY 7; CORD7

603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3

603718 CLAUDIN 1; CLDN1

604735 UBIQUITIN-SPECIFIC PROTEASE 16; USP16

604914 JUMONJI DOMAIN CONTAINING 6; JMJD6

605018 CYLD GENE; CYLD1

605039 C-LIKE SYNDROME

605204 TORSIN-A; DYT1

605353 GHRELIN; GHRL

605387 CATARACT, POSTERIOR POLAR, 3; CTPP3

605405 USP6 N-TERMINAL-LIKE; USP6NL

605958 TRAF-INTERACTING PROTEIN; TRAIP

606268 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A

606364 SPINOCEREBELLAR ATAXIA 16; SCA16

606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1

606667 G PROTEIN-COUPLED RECEPTOR 49; GPR49

606739 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 11; OSBPL11

606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA

606931 VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF; VPS35

606932 VACUOLAR PROTEIN SORTING 29, YEAST, HOMOLOG OF; VPS29

607108 PAIRED BOX GENE 6; PAX6

607758 CATENIN, BETA-INTERACTING PROTEIN 1; CTNNBIP1

607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1

608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1

608539 GLIS FAMILY ZINC FINGER PROTEIN 2; GLIS2

609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1

609292 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 2; SPRED2

609293 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 3; SPRED3

609337 MICRO RNA 155; MIRN155

609464 SARCOIDOSIS, EARLY-ONSET

609507 TOPOISOMERASE I-BINDING ARGININE/SERINE-RICH PROTEIN; TOPORS

609671 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 3; STEAP3

609923 RETINITIS PIGMENTOSA 31; RP31

610329 AICARDI-GOUTIERES SYNDROME 3; AGS3

610330 RIBONUCLEASE H2, SUBUNIT C; RNASEH2C

610333 AICARDI-GOUTIERES SYNDROME 4; AGS4

610623 CATARACT, POSTERIOR POLAR, 4; CTPP4

611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

611247 MAJOR AFFECTIVE DISORDER 4; MAFD4

611277 FEBRILE CONVULSIONS, FAMILIAL, 8; FEB8

611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L

611358 RING FINGER PROTEIN 135; RNF135

611364 MYOCLONIC EPILEPSY, JUVENILE, 4; EJM4

611376 MUNGAN SYNDROME; MGS

611383 USHER SYNDROME, TYPE IID; USH2D

611391 CATARACT, CORTICAL, JUVENILE-ONSET

611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W

611431 NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME; NFLS

611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5

611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY

611494 ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5

611498 NEPHRONOPHTHISIS 7; NPHP7

611499 BETA-GLUCURONIDASE; GUSB

611502 CENTROMERIC PROTEIN K; CENPK

611503 CENTROMERIC PROTEIN L; CENPL

611504 CENTROMERIC PROTEIN O; CENPO

611505 CENTROMERIC PROTEIN P; CENPP

611506 CENTROMERIC PROTEIN Q; CENPQ

611507 CDGSH IRON SULFUR DOMAIN PROTEIN 2; CISD2

611508 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 2; CAMTA2

611509 CENTROMERIC PROTEIN N; CENPN

611510 CENTROMERIC PROTEIN T; CENPT

611511 MLF1-INTERACTING PROTEIN; MLF1IP

611512 JUMONJI DOMAIN-CONTAINING PROTEIN 1A; JMJD1A

611513 NEUROGENIC DIFFERENTIATION 6; NEUROD6

611514 G PROTEIN-COUPLED RECEPTOR 177; GPR177

611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

611524 ARGINYL-tRNA SYNTHETASE 2; RARS2

611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12

611539 FORKHEAD BOX D3; FOXD3

611542 ARYLSULFATASE B; ARSB

611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3

611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9

611548 PREMATURE OVARIAN FAILURE 5; POF5

611553 NOONAN SYNDROME 5; NS5

611554 LEOPARD SYNDROME 2

611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE

611564 BTG3-ASSOCIATED NUCLEAR PROTEIN; BANP

611565 KIAA1109 GENE; KIAA1109

611566 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 1-LIKE 1; PRPS1L1

611570 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1

611581 USHER SYNDROME, TYPE IH; USH1H

November 13, 2007

New Entries:

611567 MACRO DOMAIN-CONTAINING 2; MACROD2

611596 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4; DHRS4

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

107760 APOLIPOPROTEIN F; APOF

135150 BIRT-HOGG-DUBE SYNDROME; BHD

142340 DIAPHRAGMATIC HERNIA, CONGENITAL

147920 KABUKI SYNDROME

153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

158350 COWDEN DISEASE; CD

173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA

173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS

182125 SEPIAPTERIN REDUCTASE; SPR

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

259775 RAINE SYNDROME; RNS

300257 DANON DISEASE

302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602617 FORKHEAD BOX E1; FOXE1

603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2

604277 SPG4 GENE; SPG4

604808 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN

607142 MOVED TO 602617

607273 FOLLICULIN; FLCN

608629 JOUBERT SYNDROME 3; JBTS3

608894 ABELSON HELPER INTEGRATION SITE 1; AHI1

610187 DIAPHRAGMATIC HERNIA 3

610400 MACRO DOMAIN-CONTAINING 1; MACROD1

610410 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 1; DHRS1

November 12, 2007

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

108345 N-ACETYLTRANSFERASE 1; NAT1

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

124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2

139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11

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

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

165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1

180300 RHEUMATOID ARTHRITIS; RA

187680 THIOPURINE S-METHYLTRANSFERASE; TPMT

301500 FABRY DISEASE

309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS

600068 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7; UGT2B7

600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2

600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ

602164 5-@HYDROXYTRYPTAMINE RECEPTOR 4; HTR4

602606 COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT

604914 JUMONJI DOMAIN CONTAINING 6; JMJD6

605478 SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN; SIGIRR

606201 WFS1 GENE; WFS1

606989 MYELOPEROXIDASE; MPO

607043 TRAF3-INTERACTING PROTEIN 2; TRAF3IP2

608465 SENATAXIN; SETX

608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO

609708 LIPOPROTEIN LIPASE; LPL

611224 SUCCINATE-CoA LIGASE, ALPHA SUBUNIT; SUCLG1

November 9, 2007

New Entries:

611594 UBIQUITIN-SPECIFIC PROTEASE 39; USP39

611595 THIOREDOXIN-LIKE 4A; TXNL4A

Changed Entries:

164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1

176888 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, MU; PTPRM

201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA

600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR

601902 ORIGIN RECOGNITION COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF;

601997 BH3-INTERACTING DOMAIN DEATH AGONIST; BID

602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3

603746 SLIT, DROSOPHILA, HOMOLOG OF, 2; SLIT2

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

606936 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 4;

610946 MICRO RNA 133B; MIRN133B

611413 DISCS LARGE-ASSOCIATED PROTEIN 3; DLGAP3

611595 THIOREDOXIN-LIKE 4A; TXNL4A

November 8, 2007

New Entries:

611589 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING 5; PNPLA5

611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA

611591 PRO-PLATELET BASIC PROTEIN-LIKE 2; PPBPL2

611592 PHENYLALANYL-tRNA SYNTHETASE 2, MITOCHONDRIAL; FARS2

611593 SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 3, MOUSE, HOMOLOG OF,

Clinical Synopsis for 611571 OTOSCLEROSIS 4; OTSC4

Clinical Synopsis for 611572 OTOSCLEROSIS 7; OTSC7

Changed Entries:

109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1

109730 AORTIC VALVE DISEASE

118423 CHIMERIN 1; CHN1

136470 FOLLISTATIN; FST

147290 INHIBIN, BETA A; INHBA

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

171300 PHEOCHROMOCYTOMA

176977 PROTEIN KINASE C, DELTA; PRKCD

179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

179830 RENAL TUBULAR ACIDOSIS, PROXIMAL

180380 RHODOPSIN; RHO

211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC

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

300216 COATS DISEASE

600946 GROWTH HORMONE RECEPTOR; GHR

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

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

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

602188 EPHRIN RECEPTOR EphA4; EPHA4

602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR

602918 PHENYLALANINE-tRNA SYNTHETASE, ALPHA SUBUNIT; FARSA

603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER

604273 ATPAF2 DEFICIENCY

604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL

605393 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1B; JARID1B

607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1

609690 PHENYLALANINE-tRNA SYNTHETASE, BETA SUBUNIT; FARSB

611571 OTOSCLEROSIS 4; OTSC4

611572 OTOSCLEROSIS 7; OTSC7

Clinical Synopsis for 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC

November 7, 2007

New Entries:

611586 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 1; C1QL1

611587 RHO GTPase-ACTIVATING PROTEIN 19; ARHGAP19

Changed Entries:

137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A

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

153700 MACULAR DYSTROPHY, VITELLIFORM; VMD

168600 PARKINSON DISEASE; PD

180250 RETINOL-BINDING PROTEIN 4; RBP4

181031 S-ANTIGEN; SAG

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

212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx

216900 ACHROMATOPSIA 2; ACHM2

262300 ACHROMATOPSIA 3; ACHM3

301770 ARRESTIN 3, RETINAL; ARR3

535000 LEBER OPTIC ATROPHY

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600791 ENLARGED VESTIBULAR AQUEDUCT; EVA

603197 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6

603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6

604638 ACTININ, ALPHA-4; ACTN4

605514 PROTOCADHERIN 15; PCDH15

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

606185 TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 1; TP53INP1

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609337 BIC GENE

November 6, 2007

New Entries:

611581 USHER SYNDROME, TYPE IH; USH1H

611583 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 5A; ARID5A

611585 TESCALCIN, MOUSE, HOMOLOG OF; TESC

Changed Entries:

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

147572 INTERFERON-ALPHA-INDUCIBLE PROTEIN 6; IFI6

150330 LAMIN A/C; LMNA

155720 MELANOMA, UVEAL

163400 NIEVERGELT SYNDROME

167414 PAIRED BOX GENE 5; PAX5

231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A

242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME

277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE

600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C

600663 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE D; MEF2D

600933 COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1

602666 MYOSIN XVA; MYO15A

603265 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 3A; ARID3A

603400 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3; WISP3

604061 SEPTIN 9; SEPT9

604937 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC

604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC

605111 ENDOTHELIAL DIFFERENTIATION GENE 5; EDG5

605204 TORSIN-A; DYT1

605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE

605315 HISTONE DEACETYLASE 5; HDAC5

605514 PROTOCADHERIN 15; PCDH15

605516 CADHERIN 23; CDH23

606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1

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

607439 PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2

608538 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5B; ARID5B

608864 OROFACIAL CLEFT 6

609377 ACD, MOUSE, HOMOLOG OF; ACD

610219 PEJVAKIN

610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59

610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A

November 5, 2007

New Entries:

611574 SPHINGOMYELIN SYNTHASE 2; SGMS2

611575 STERILE ALPHA MOTIF DOMAIN-CONTAINING 8; SAMD8

611578 FERRIC CHELATE REDUCTASE 1; FRRS1

611579 TRANSMEMBRANE PROTEIN 114; TMEM114

611580 FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER A; FAM12A

611582 FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B

Changed Entries:

117139 CENTROMERIC PROTEIN A; CENPA

139320 GNAS COMPLEX LOCUS; GNAS

153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF

160900 DYSTROPHIA MYOTONICA 1

165162 ONCOGENE JUN-D; JUND

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE

243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

276900 USHER SYNDROME, TYPE I

308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1

516060 ATP SYNTHASE 6; MTATP6

600019 CYTOCHROME b561; CYB561

601067 USHER SYNDROME, TYPE ID; USH1D

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

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602250 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9

602533 ONCOGENE DJ1

602544 PARKIN; PARK2

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB

603730 SPHINGOSINE KINASE 1; SPHK1

605644 KALLIKREIN-RELATED PEPTIDASE 8; KLK8

607092 SPHINGOSINE KINASE 2; SPHK2

607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1

610379 WEST NILE VIRUS, SUSCEPTIBILITY TO

611546 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6

611568 GOLGI-LOCALIZED SYNTAPHILIN-RELATED PROTEIN

November 2, 2007

New Entries:

611570 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1

Changed Entries:

143100 HUNTINGTON DISEASE; HD

168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1

226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB

229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

252650 MUCOLIPIDOSIS IV

276903 MYOSIN VIIA; MYO7A

300128 UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON X CHROMOSOME;

400009 UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON Y CHROMOSOME;

600002 EIKEN SKELETAL DYSPLASIA

600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2

601317 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11

601543 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 12; DFNA12

601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1

601842 MOVED TO 601543

602358 HYPOCRETIN; HCRT

602574 TECTORIN, ALPHA; TECTA

603027 FRUCTOSE-1,6-BISPHOSPHATASE 2; FBP2

603149 INTERLEUKIN 17A; IL17A

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB

603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21

604053 3-PRIME(2-PRIME),5-PRIME-@BISPHOSPHATE NUCLEOTIDASE 1; BPNT1

604277 SPG4 GENE; SPG4

605103 NEUROMEDIN U; NMU

605248 MUCOLIPIN 1; MCOLN1

605330 INTERLEUKIN 22; IL22

606157 PANTOTHENATE KINASE 2; PANK2

606486 CHMP FAMILY, MEMBER 1B; CHMP1B

607870 UNC5, C. ELEGANS, HOMOLOG OF, B; UNC5B

608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1

609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

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

609983 VACUOLAR PROTEIN SORTING 4, S. CEREVISIAE, HOMOLOG OF, B; VPS4B

610860 AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL

610893 CHMP FAMILY, MEMBER 2A; CHMP2A

611577 JUMONJI DOMAIN-CONTAINING PROTEIN 3; JMJD3

Clinical Synopsis for 608629 JOUBERT SYNDROME 3; JBTS3

November 1, 2007

New Entries:

611576 MICRO RNA 10B; MIRN10B

611577 JUMONJI DOMAIN-CONTAINING PROTEIN 3; JMJD3

Changed Entries:

120470 DELETED IN COLORECTAL CARCINOMA; DCC

133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1

137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

179615 RECOMBINATION-ACTIVATING GENE 1; RAG1

179616 RECOMBINATION-ACTIVATING GENE 2; RAG2

187500 TETRALOGY OF FALLOT

209850 AUTISM

300336 NEUROLIGIN 3; NLGN3

601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG

601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1

602239 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 1; CYP26A1

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603554 OMENN SYNDROME

605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2

606739 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 11; OSBPL11

609747 ACTIN-BINDING RHO-ACTIVATING PROTEIN; ABRA

611577 JUMONJI DOMAIN-CONTAINING PROTEIN 3; JMJD3