PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for January, 2007

January 31, 2007

New Entries:

610733 NOONAN SYNDROME 4; NS4

610735 MYOZENIN 3; MYOZ3

610737 KINASE SUPPRESSOR OF RAS 2; KSR2

610739 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6A; TNRC6A

610740 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6B; TNRC6B

610741 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6C; TNRC6C

610742 MOLONEY LEUKEMIA VIRUS 10, MOUSE, HOMOLOG OF; MOV10

Changed Entries:

163950 NOONAN SYNDROME 1; NS1

170280 PERFORIN 1; PRF1

182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1

191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8

192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR

300035 EPHRIN B1; EFNB1

300485 BCL6 COREPRESSOR; BCOR

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

601132 KINASE SUPPRESSOR OF RAS 1; KSR1

602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3

603217 SYNTAXIN 7; STX7

605602 MYOZENIN 2; MYOZ2

605603 MYOZENIN 1; MYOZ1

605906 LIM DOMAIN-BINDING 3; LDB3

606892 SYNTAXIN 12; STX12

607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

609599 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1; ANKRD1

610239 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

610501 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 1; NBPF1

610734 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; ANKRD2

610736 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 23; ANKRD23

610739 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6A; TNRC6A

January 30, 2007

New Entries:

610729 LOC116143 GENE

610730 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6B; CCT6B

610731 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 7; ANKRD7

610732 TETRATRICOPEPTIDE REPEAT DOMAIN 12; TTC12

610734 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; ANKRD2

610736 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 23; ANKRD23

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2

137290 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; TACSTD2

142989 HOMEOBOX D13; HOXD13

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

223100 LACTASE PERSISTENCE

300037 GLYPICAN 3; GPC3

300546 FGD1 GENE; FGD1

516060 ATP SYNTHASE 6; MTATP6

601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6

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

603202 LACTASE; LCT

607444 SBDS GENE; SBDS

608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7

609844 DECAPPING ENZYME 2, S. CEREVISIAE, HOMOLOG OF; DCP2

610726 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 1; TRUB1

610727 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 2; TRUB2

January 29, 2007

New Entries:

610726 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 1; TRUB1

610727 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 2; TRUB2

610728 SPHINGOMYELIN PHOSPHODIESTERASE, ACID-LIKE, 3A; SMPDL3A

Changed Entries:

104310 ALZHEIMER DISEASE 2

107269 CD44 ANTIGEN; CD44

107741 APOLIPOPROTEIN E; APOE

136680 FRASIER SYNDROME

137580 GILLES DE LA TOURETTE SYNDROME; GTS

150325 LAMININ, BETA-2; LAMB2

176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA

176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1

179095 UBIQUITIN-CONJUGATING ENZYME E2B; UBE2B

181500 SCHIZOPHRENIA; SCZD

191170 TUMOR PROTEIN p53; TP53

270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS

312180 UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A

600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER

600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2

601150 DEAD/H BOX 11; DDX11

601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP

601661 UBIQUITIN-CONJUGATING ENZYME E2I; UBE2I

601922 ANGIOPOIETIN 2; ANGPT2

602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7

602865 DELETED IN BLADDER CANCER CHROMOSOME REGION CANDIDATE 1; DBCCR1

603001 UBIQUITIN-CONJUGATING ENZYME E2 VARIANT 2; UBE2V2

603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1

603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1

603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N

605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605767 PHOSPHOPROTEIN ASSOCIATED WITH GLYCOSPHINGOLIPID-ENRICHED MICRODOMAINS

607266 MOVED TO 608048

608048 SNF2, LINKER HISTONE, PHD FINGER, RING FINGER, AND HELICASE DOMAINS-CONTAINING

608114 CENTAURIN, ALPHA-1; CENTA1

608162 V-SET DOMAIN-CONTAINING T-CELL ACTIVATION INHIBITOR 1; VTCN1

608241 SMAD NUCLEAR INTERACTING PROTEIN 1; SNIP1

610379 WEST NILE VIRUS, SUSCEPTIBILITY TO

610414 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15

January 29, 2007

New Entries:

610716 TIMELESS-INTERACTING PROTEIN; TIPIN

610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM

610718 MICRO RNA 195; MIRN195

610719 MICRO RNA 199A1; MIRN199A1

610720 MICRO RNA 199A2; MIRN199A2

610721 MICRO RNA 214; MIRN214

610722 MICRO RNA 23A; MIRN23A

610723 MICRO RNA 23B; MIRN23B

610724 MICRO RNA 24-2; MIRN24-2

610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3

Changed Entries:

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

103780 ALCOHOL DEPENDENCE

104640 AMPHIREGULIN; AREG

105590 ANAPLASTIC LYMPHOMA KINASE; ALK

107741 APOLIPOPROTEIN E; APOE

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C

115150 CARDIOFACIOCUTANEOUS SYNDROME

118493 CHOLINERGIC RECEPTOR, MUSCARINIC, 2; CHRM2

119530 OROFACIAL CLEFT 1; OFC1

120900 COMPLEMENT COMPONENT 5; C5

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1

137800 GLIOMA OF BRAIN, FAMILIAL

142955 HOMEOBOX A1; HOXA1

146700 ICHTHYOSIS VULGARIS

147620 INTERLEUKIN 6; IL6

147850 INTERLEUKIN 5; IL5

150320 LAMININ, ALPHA-1; LAMA1

155555 MELANOCORTIN 1 RECEPTOR; MC1R

156225 LAMININ, ALPHA-2; LAMA2

156491 NONMETASTATIC CELLS 2, PROTEIN EXPRESSED IN; NME2

156610 SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

164020 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN C; HNRPC

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

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

164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1

164860 MET PROTOONCOGENE; MET

165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG;

167050 OXYTOCIN; OXT

177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1

181500 SCHIZOPHRENIA; SCZD

189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

235200 HEMOCHROMATOSIS; HFE

248000 MACROCEPHALY

256300 NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1

275630 CHANARIN-DORFMAN SYNDROME; CDS

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

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

300284 RAS-ASSOCIATED PROTEIN RAB9; RAB9

300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A

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

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

600222 TYROSINE KINASE WITH IMMUNOGLOBULIN AND EGF FACTOR HOMOLOGY DOMAINS

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

600414 PEROXISOME RECEPTOR 1; PXR1

600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE

600553 G PROTEIN-COUPLED RECEPTOR 6; GPR6

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11

600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1

600995 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1

601056 BCL2-RELATED PROTEIN A1; BCL2A1

601099 SRC-LIKE ADAPTOR; SLA

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

601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA ISOFORM 1; PPP3R1

601653 EYES ABSENT 1; EYA1

601769 VITAMIN D RECEPTOR; VDR

601826 DIACYLGLYCEROL KINASE, DELTA, 130-KD; DGKD

601872 SOLUTE CARRIER FAMILY 7, MEMBER 2; SLC7A2

601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1

601922 ANGIOPOIETIN 2; ANGPT2

601962 TAP-BINDING PROTEIN; TAPBP

602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2

602047 PHOSPHODIESTERASE 3B, cGMP-INHIBITED; PDE3B

602063 TRANSALDOLASE 1; TALDO1

602098 POLO-LIKE KINASE 1; PLK1

602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2

602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL

602702 MANNOSE 6-PHOSPHATE RECEPTOR-BINDING PROTEIN 1; M6PRBP1

602748 DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6

602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE,

603273 TUMOR PROTEIN p73-LIKE; TP73L

603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1

603605 SMALL INDUCIBLE CYTOKINE SUBFAMILY E, MEMBER 1; SCYE1

603644 SCO1, S. CEREVISIAE, HOMOLOG OF; SCO1

603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;

603709 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 22; ADAM22

603755 MADH-INTERACTING PROTEIN; MADHIP

603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS

603961 SEMAPHORIN 3A; SEMA3A

604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2

604365 PROMININ 1; PROM1

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

604610 RECQ PROTEIN-LIKE 3; RECQL3

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

604647 DOPAMINE RECEPTOR D1-INTERACTING PROTEIN; DRD1IP

604790 TASTE RECEPTOR, TYPE 2, MEMBER 14; TAS2R14

604791 TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10

604796 TASTE RECEPTOR, TYPE 2, MEMBER 1; TAS2R1

604820 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 3; LILRB3

604824 KLOTHO; KL

605353 GHRELIN; GHRL

605380 FIBROBLAST GROWTH FACTOR 23; FGF23

605532 SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 2; SMURF2

605568 SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 1; SMURF1

605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2

606120 HUMANIN

606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1

606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1

606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA

606880 CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2

607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

607725 POLY(ADP-RIBOSE) POLYMERASE 2; PARP2

607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG

608241 SMAD NUCLEAR INTERACTING PROTEIN 1; SNIP1

608253 TESTIS-SPECIFIC KINASE SUBSTRATE

608374 HEMOJUVELIN

608414 PHOSPHOLIPASE C, EPSILON-1; PLCE1

608516 MAJOR DEPRESSIVE DISORDER; MDD

608636 AUTISM, SUSCEPTIBILITY TO, 1

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

608708 BROTHER OF CDON; BOC

608740 NFAT ACTIVATING PROTEIN WITH ITAM MOTIF 1; NFAM1

609059 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2

609705 MICRO RNA 24-1; MIRN24-1

610104 MICRO RNA 125B-1; MIRN125B1

610105 MICRO RNA 125B-2; MIRN125B2

610215 RAC- AND CDC42-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR

610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME

610718 MICRO RNA 195; MIRN195

Clinical Synopsis for 601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA

January 23, 2007

New Entries:

610712 TESTIS-SPECIFIC SERINE/THREONINE KINASE 6; TSSK6

610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME

610714 PROTEIN KINASE N3; PKN3

610715 HEMOGEN; HEMGN

Clinical Synopsis for 610682 OSTEOGENESIS IMPERFECTA, TYPE VII

Changed Entries:

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

112310 BOOMERANG DYSPLASIA

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

119530 OROFACIAL CLEFT 1; OFC1

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

137580 GILLES DE LA TOURETTE SYNDROME; GTS

142989 HOMEOBOX D13; HOXD13

161800 NEMALINE MYOPATHY 3; NEM3

165500 OPTIC ATROPHY 1; OPA1

181500 SCHIZOPHRENIA; SCZD

181510 SCHIZOPHRENIA 1; SCZD1

186300 SYNDACTYLY, TYPE V

192430 VELOCARDIOFACIAL SYNDROME

222300 WOLFRAM SYNDROME

252150 MOLYBDENUM COFACTOR DEFICIENCY

258500 OPTIC ATROPHY 6; OPA6

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

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

300377 DYSTROPHIN; DMD

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

313700 ANDROGEN RECEPTOR; AR

601032 PROTEIN KINASE N1; PKN1

602544 PARKIN; PARK2

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

604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

605370 RHO GTPase-ACTIVATING PROTEIN 26; ARHGAP26

605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2

605980 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 1; NOD1

606348 INFLAMMATORY BOWEL DISEASE 5; IBD5

606674 INFLAMMATORY BOWEL DISEASE 6; IBD6

606831 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 12; CARD12

607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO

609435 GENE ASSOCIATED WITH RETINOID- AND INTERFERON-INDUCED MORTALITY 19

609464 SARCOIDOSIS, EARLY-ONSET

609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1

609746 RHO GTPase-ACTIVATING PROTEIN 10; ARHGAP10

610682 OSTEOGENESIS IMPERFECTA, TYPE VII

610707 PSORIASIS SUSCEPTIBILITY 8

610712 TESTIS-SPECIFIC SERINE/THREONINE KINASE 6; TSSK6

January 22, 2007

New Entries:

610707 PSORIASIS SUSCEPTIBILITY 8

610708 OPTIC ATROPHY 5; OPA5

610709 TESTIS-SPECIFIC SERINE/THREONINE KINASE 1; TSSK1

610710 TESTIS-SPECIFIC SERINE/THREONINE KINASE 2; TSSK2

610711 TESTIS-SPECIFIC SERINE/THREONINE KINASE 4; TSSK4

Changed Entries:

106150 ANGIOTENSIN I; AGT

106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1

114251 CALSEQUESTRIN 2; CASQ2

120200 COLOBOMA, OCULAR

121360 CORE-BINDING FACTOR, BETA SUBUNIT; CBFB

123900 VILLIN 2; VIL2

128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1

130130 ELASTASE 2; ELA2

150292 LAMININ, GAMMA-2; LAMC2

150310 LAMININ, BETA-3; LAMB3

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

161561 INTERLEUKIN 12B; IL12B

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

165300 OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT

165500 OPTIC ATROPHY 1; OPA1

184429 SRY-BOX 2; SOX2

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

218330 CRANIOECTODERMAL DYSPLASIA

226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB

256350 MOVED TO 600995

267430 RENAL TUBULAR DYSGENESIS; RTD

268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES

311050 OPTIC ATROPHY 2; OPA2

600155 HIRSCHSPRUNG DISEASE 2; HSCR2

600805 LAMININ, ALPHA-3; LAMA3

601147 GROWTH/DIFFERENTIATION FACTOR 6; GDF6

602361 GRACILE BONE DYSPLASIA

604766 PODOCIN; NPHS2

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

605293 OPTIC ATROPHY 4; OPA4

606580 OPA3 GENE; OPA3

606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET

607562 INTERLEUKIN 23 RECEPTOR; IL23R

607660 TESTIS-SPECIFIC SERINE/THREONINE KINASE 3; TSSK3

610705 CD300 ANTIGEN-LIKE FAMILY, MEMBER B; CD300LB

610707 PSORIASIS SUSCEPTIBILITY 8

610708 OPTIC ATROPHY 5; OPA5

Clinical Synopsis for 256350 MOVED TO 600995

January 19, 2007

New Entries:

610705 CD300 ANTIGEN-LIKE FAMILY, MEMBER B; CD300LB

610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA

Clinical Synopsis for 605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD

Clinical Synopsis for 608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A

Clinical Synopsis for 610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME

Clinical Synopsis for 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Clinical Synopsis for 610655 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4

Clinical Synopsis for 610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS

Changed Entries:

106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

116952 CELL DIVISION CYCLE 42; CDC42

121300 COPROPORPHYRIA

125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD

128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

131210 SELECTIN E; SELE

145500 HYPERTENSION, ESSENTIAL

153390 LYMPHOCYTE-SPECIFIC PROTEIN-TYROSINE KINASE; LCK

164950 FIBROBLAST GROWTH FACTOR 3; FGF3

182330 ATPase, Na+/K+ TRANSPORTING, BETA-1 POLYPEPTIDE; ATP1B1

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

300120 CHROMOSOME X OPEN READING FRAME 6; CXORF6

300304 CULLIN 4B; CUL4B

300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE

300633 HYPOSPADIAS, X-LINKED

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

600995 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1

602716 NEPHRIN; NPHS1

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

603276 REGULATOR OF G PROTEIN SIGNALING 5; RGS5

604766 PODOCIN; NPHS2

604780 ABHYDROLASE DOMAIN-CONTAINING 5; ABHD5

605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD

605902 UROCORTIN II; UCN2

606232 CHROMOSOME 22q13.3 DELETION SYNDROME

607102 WILMS TUMOR 1 GENE; WT1

608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A

610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME

610520 CD300 ANTIGEN-LIKE FAMILY, MEMBER G; CD300LG

Clinical Synopsis for 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF

Clinical Synopsis for 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

Clinical Synopsis for 182875 SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND

Clinical Synopsis for 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;

Clinical Synopsis for 218330 CRANIOECTODERMAL DYSPLASIA

Clinical Synopsis for 230600 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE

Clinical Synopsis for 230650 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III, OR ADULT TYPE

Clinical Synopsis for 235730 MOWAT-WILSON SYNDROME

Clinical Synopsis for 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Clinical Synopsis for 309520 MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS

January 18, 2007

Changed Entries:

106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

116806 CATENIN, BETA-1; CTNNB1

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1

175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;

183840 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2

600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3

600527 EPHRIN B2; EFNB2

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4

601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1

601839 EPHRIN RECEPTOR EphB3; EPHB3

603031 TOLL-LIKE RECEPTOR 5; TLR5

603566 PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1

604475 RETICULON 4; RTN4

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

604650 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 4; IFIT4

606230 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3

606232 CHROMOSOME 22q13.3 DELETION SYNDROME

606604 F-BOX ONLY PROTEIN 32; FBXO32

607311 PROGESTERONE RECEPTOR; PGR

610555 CORE 1 SYNTHASE, GLYCOPROTEIN-N-ACETYLGALACTOSAMINE 3-BETA-GALACTOSYLTRANSFERASE,

610674 CHROMOSOME 20 OPEN READING FRAME 28; C20ORF28

610697 PDZ DOMAIN-CONTAINING 2; PDZD2

January 17, 2007

New Entries:

610697 PDZ DOMAIN CONTAINING 2; PDZD2

Changed Entries:

106300 ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO, 1

115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4

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

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

143100 HUNTINGTON DISEASE; HD

144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL

147450 SUPEROXIDE DISMUTASE 1; SOD1

162200 NEUROFIBROMATOSIS, TYPE I; NF1

174500 POLYDACTYLY, PREAXIAL II; PPD2

177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1

183840 SPONDYLOARTHROPATHY, AUTOSOMAL DOMINANT

188400 DIGEORGE SYNDROME; DGS

191523 UPSTREAM STIMULATORY FACTOR 1; USF1

192430 VELOCARDIOFACIAL SYNDROME

251500 MOVED TO 600118

309550 FMR1 GENE

312750 RETT SYNDROME; RTT

600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3

602054 T-BOX 1; TBX1

602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

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

605310 COILED-COIL ALPHA-HELICAL ROD PROTEIN 1; CCHCR1

605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1

610520 CD300 ANTIGEN-LIKE FAMILY, MEMBER G; CD300LG

610693 HYLS1 GENE; HYLS1

610697 PDZ DOMAIN CONTAINING 2; PDZD2

Clinical Synopsis for 251500 MOVED TO 600118

January 16, 2007

New Entries:

300635 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

610233 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS

610703 HEAT-SHOCK 105/110-KD PROTEIN 1; HSPH1

610704 PROHIBITIN 2; PHB2

Changed Entries:

131320 GATA-BINDING PROTEIN 3; GATA3

171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 1; PIK3R1

174500 POLYDACTYLY, PREAXIAL II; PPD2

176705 PROHIBITIN; PHB

186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D

270150 SJOGREN SYNDROME

300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4

300490 SH2 DOMAIN PROTEIN 1A; SH2D1A

308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1

600725 SONIC HEDGEHOG; SHH

601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1

602030 FUCOSYLTRANSFERASE 7; FUT7

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

603157 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 2; PIK3R2

604895 T-BOX 21; TBX21

605219 DIRECT IAP-BINDING PROTEIN WITH LOW pI; DIABLO

605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1

605859 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 32; ZBTB32

610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7

610362 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; RAXL1

January 12, 2007

New Entries:

610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4

610699 ZINC FINGER, AN1-TYPE, DOMAIN-CONTAINING PROTEIN 2A; ZFAND2A

610700 HTRA SERINE PEPTIDASE 4; HTRA4

610701 HEAT-SHOCK 70-KD PROTEIN 12A; HSPA12A

610702 HEAT-SHOCK 70-KD PROTEIN 12B; HSPA12B

Changed Entries:

126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2

134370 COMPLEMENT FACTOR H; CFH

174500 POLYDACTYLY, PREAXIAL II; PPD2

188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY

190605 MOVED TO 174500

275220 TIBIAL HEMIMELIA

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600725 SONIC HEDGEHOG; SHH

602194 HTRA SERINE PEPTIDASE 1; HTRA1

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

604303 ACTIN-LIKE 7A; ACTL7A

604304 ACTIN-LIKE 7B; ACTL7B

604761 ZINC FINGER, AN1-TYPE, DOMAIN-CONTAINING PROTEIN 5; ZFAND5

604785 CATENIN, ALPHA-LIKE, 1; CTNNAL1

606441 HTRA SERINE PEPTIDASE 2; HTRA2

607455 ZINC FINGER, AN1-TYPE, DOMAIN-CONTAINING PROTEIN 3; ZFAND3

608011 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 3; GNL3

608015 TSUKUSHIN; TSKU

608016 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING 8; CHCHD8

608017 CHROMOSOME 3 OPEN READING FRAME 28; C3ORF28

608785 HTRA SERINE PEPTIDASE 3; HTRA3

608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3

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

610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7

610183 ZINC FINGER, AN1-TYPE, DOMAIN-CONTAINING PROTEIN 6; ZFAND6

610362 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; RAXL1

610700 HTRA SERINE PEPTIDASE 4; HTRA4

610701 HEAT-SHOCK 70-KD PROTEIN 12A; HSPA12A

January 11, 2007

New Entries:

300634 PDZ DOMAIN-CONTAINING 4; PDZD4

610696 PCNA-ASSOCIATED FACTOR, 15-KD

Changed Entries:

102530 GLOBOZOOSPERMIA

119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1

149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME

155555 MELANOCORTIN 1 RECEPTOR; MC1R

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

166490 SECRETED PHOSPHOPROTEIN 1; SPP1

173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1

180200 RETINOBLASTOMA; RB1

181500 SCHIZOPHRENIA; SCZD

191170 TUMOR PROTEIN p53; TP53

203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2

236680 HYDROLETHALUS SYNDROME 1

250620 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF

260350 PANCREATIC CARCINOMA

264800 PSEUDOXANTHOMA ELASTICUM; PXE

300632 PDZ DOMAIN-CONTAINING 11; PDZD11

300633 HYPOSPADIAS, X-LINKED

314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED

600244 PROGRAMMED CELL DEATH 1; PDCD1

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

601443 COFILIN 2; CFL2

601657 DERMATAN SULFATE PROTEOGLYCAN 3; DSPG3

601683 COQ7, S. CEREVISIAE, HOMOLOG OF; COQ7

601826 DIACYLGLYCEROL KINASE, DELTA, 130-KD; DGKD

602704 MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4

602784 CORTISTATIN; CORT

603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1

603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8

604194 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4

604379 HYPOTRICHOSIS, TOTAL, MARI TYPE

604514 SH2 DOMAIN PROTEIN 2A; SH2D2A

604530 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 1; NCR1

604915 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 13; MAP3K13

606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2

606473 SS18-LIKE GENE 2; SS18L2

606574 OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4

606845 GOLGI-ASSOCIATED PDZ AND COILED-COIL DOMAINS-CONTAINING PROTEIN; GOPC

606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1

607365 LIPASE H; LIPH

608124 XYLOSYLTRANSFERASE 1; XYLT1

608125 XYLOSYLTRANSFERASE 2; XYLT2

608261 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 2; SENP2

608414 PHOSPHOLIPASE C, EPSILON-1; PLCE1

609631 DEAD/H BOX 58; DDX58

610149 LOC387715 GENE

610659 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 1; GRID1

610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4

610679 PFTAIRE PROTEIN KINASE 1; PFTK1

610683 BBS12 GENE; BBS12

610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2

610686 LOC137886 GENE

610687 NEMALINE MYOPATHY 7; NEM7

610688 JOUBERT SYNDROME 6; JBTS6

610689 DIPLA1, ANTISENSE

610690 3-@HYDROXYISOBUTYRYL-CoA HYDROLASE; HIBCH

610691 BCH MOTIF-CONTAINING MOLECULE AT THE C-TERMINAL REGION 1

610692 HEAT-SHOCK 27-KD PROTEIN 7; HSPB7

610693 HYLS1 GENE; HYLS1

610694 PYROGLUTAMYL PEPTIDASE I; PGPEP1

610695 HEAT-SHOCK 27-KD PROTEIN 6; HSPB6

January 10, 2007

New Entries:

300633 HYPOSPADIAS, X-LINKED

610694 PYROGLUTAMYL PEPTIDASE I; PGPEP1

610695 HEAT-SHOCK 27-KD PROTEIN 6; HSPB6

Changed Entries:

116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM

146450 HYPOSPADIAS, AUTOSOMAL

276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS

300120 CHROMOSOME X OPEN READING FRAME 6; CXORF6

300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

300219 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT

300515 FANCB GENE; FANCB

300633 HYPOSPADIAS, X-LINKED

313700 ANDROGEN RECEPTOR; AR

314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED

600400 PROLYL ENDOPEPTIDASE; PREP

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY

608124 XYLOSYLTRANSFERASE 1; XYLT1

608125 XYLOSYLTRANSFERASE 2; XYLT2

608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1

609049 PIERSON SYNDROME

609469 NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS

609557 PROLYL ENDOPEPTIDASE-LIKE; PREPL

610694 PYROGLUTAMYL PEPTIDASE I; PGPEP1

Clinical Synopsis for 236680 HYDROLETHALUS SYNDROME 1

January 9, 2007

New Entries:

610693 HYLS1 GENE; HYLS1

Changed Entries:

146450 HYPOSPADIAS

150325 LAMININ, BETA-2; LAMB2

236680 HYDROLETHALUS SYNDROME 1

276000 PROTEASE, SERINE, 1; PRSS1

609049 PIERSON SYNDROME

610690 3-@HYDROXYISOBUTYRYL-CoA HYDROLASE; HIBCH

January 8, 2007

New Entries:

610688 JOUBERT SYNDROME 6; JBTS6

610689 DIPLA1, ANTISENSE

610690 3-@HYDROXYISOBUTYRYL-CoA HYDROLASE; HIBCH

610691 BCH MOTIF-CONTAINING MOLECULE AT THE C-TERMINAL REGION 1

610692 HEAT-SHOCK 27-KD PROTEIN 7; HSPB7

Clinical Synopsis for 609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER

Changed Entries:

149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME

150325 LAMININ, BETA-2; LAMB2

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A; PAPPA

186973 T-CELL TYROSINE KINASE EMT; EMT

250620 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF

300631 TRANSMEMBRANE PROTEIN 27; TMEM27

600058 PROTEIN TYROSINE KINASE TXK; TXK

606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1

608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD

608464 ANGIOGENIC FACTOR WITH G PATCH AND FHA DOMAINS 1; AGGF1

608709 BARRAQUER-SIMONS SYNDROME

609049 PIERSON SYNDROME

609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER

609676 VIRUS-INDUCED SIGNALING ADAPTOR

609884 TRANSMEMBRANE PROTEIN 67; TMEM67

610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2

610690 3-@HYDROXYISOBUTYRYL-CoA HYDROLASE; HIBCH

Clinical Synopsis for 609049 PIERSON SYNDROME

January 5, 2007

New Entries:

610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS

610687 NEMALINE MYOPATHY 7; NEM7

Changed Entries:

119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1

123450 CRI-DU-CHAT SYNDROME

153243 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 8; TNFRSF8

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

161800 NEMALINE MYOPATHY 3; NEM3

187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10

235730 MOWAT-WILSON SYNDROME

249000 MECKEL SYNDROME, TYPE 1; MKS1

269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV

300353 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 4; VSIG4

305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD

309520 MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4

601443 COFILIN 2; CFL2

602354 LINKER FOR ACTIVATION OF T CELLS; LAT

602849 MUENKE SYNDROME

603194 MECKEL SYNDROME, TYPE 2; MKS2

603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8

603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N

603875 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 8; TNFSF8

604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3

604766 PODOCIN; NPHS2

605355 NEMALINE MYOPATHY 5; NEM5

607361 MECKEL SYNDROME, TYPE 3; MKS3

607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1; MDC1

607961 SEMAPHORIN 7A; SEMA7A

610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

610657 KIAA0196 GENE; KIAA0196

610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2

January 4, 2007

New Entries:

300632 PDZ DOMAIN-CONTAINING 11; PDZD11

610683 BBS12 GENE; BBS12

610684 DULLARD, XENOPUS, HOMOLOG OF; DULLARD

610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2

610686 LOC137886 GENE

Changed Entries:

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

119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1

119530 OROFACIAL CLEFT 1; OFC1

182875 SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND

209900 BARDET-BIEDL SYNDROME; BBS

276901 USHER SYNDROME, TYPE IIA; USH2A

300632 PDZ DOMAIN-CONTAINING 11; PDZD11

600494 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 2; POU3F2

601023 VALOSIN-CONTAINING PROTEIN; VCP

602016 KRUPPEL-LIKE FACTOR 2; KLF2

602480 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 3; POU3F3

603831 PDZ DOMAIN-CONTAINING 1; PDZK1

606582 DELTA-LIKE 1; DLL1

606610 NSFL1 COFACTOR; NSFL1C

606845 GOLGI-ASSOCIATED PDZ AND COILED-COIL DOMAINS-CONTAINING PROTEIN; GOPC

607146 PDZ DOMAIN-CONTAINING 3; PDZD3

607929 CCM2 GENE; CCM2

608400 USH2A GENE; USH2A

610686 LOC137886 GENE

January 3, 2007

New Entries:

610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4

610679 PFTAIRE PROTEIN KINASE 1; PFTK1

610682 OSTEOGENESIS IMPERFECTA, TYPE VII

Changed Entries:

146928 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB

146929 INTERLEUKIN 8 RECEPTOR, ALPHA; IL8RA

166260 GNATHODIAPHYSEAL DYSPLASIA; GDD

181500 SCHIZOPHRENIA; SCZD

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

311550 PCTAIRE PROTEIN KINASE 1; PCTK1

600554 INTERLEUKIN 15; IL15

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

601070 INTERLEUKIN 15 RECEPTOR, ALPHA; IL15RA

601365 DISHEVELLED 1; DVL1

602389 Tu TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TUFM

603044 PLEOMORPHIC ADENOMA GENE-LIKE 1; PLAGL1

604666 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 4; MAP4K4

604975 SRY-BOX 5; SOX5

605117 SUPPRESSOR OF CYTOKINE SIGNALING 2; SOCS2

605800 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U-LIKE 1; HNRPUL1

606639 MITOCHONDRIAL ELONGATION FACTOR G1; GFM1

607257 SRY-BOX 6; SOX6

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

607861 DAPPER, ANTAGONIST OF BETA-CATENIN, 1; DACT1

609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR

609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1

610055 COILED-COIL AND C2 DOMAIN-CONTAINING 1A; CC2D1A

610148 BBS10 GENE; BBS10

610679 PFTAIRE PROTEIN KINASE 1; PFTK1

610682 OSTEOGENESIS IMPERFECTA, TYPE VII

January 2, 2007

New Entries:

610675 HEMATOPOIETIC STEM/PROGENITOR CELL PROTEIN MDS032

610677 LSM14A PROTEIN; LSM14A

Changed Entries:

103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA

107323 ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1

120577 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, RECEPTOR 1; C1QR1

124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19

124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6

147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1

159559 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 4; MLLT4

160900 DYSTROPHIA MYOTONICA 1

164035 NUCLEOLIN; NCL

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

176640 PRION PROTEIN; PRNP

180630 DEAD/H BOX 5; DDX5

185605 SYNAPTOTAGMIN 1; SYT1

201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2

233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,

243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE

261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY

266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

300223 MELANOMA ANTIGEN, FAMILY C, 1; MAGEC1

300224 MELANOMA ANTIGEN, FAMILY D, 1; MAGED1

300256 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X; HSD17B10

300438 HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY

300631 TRANSMEMBRANE PROTEIN 27; TMEM27

312861 5-@HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C

600010 INSULINOMA-ASSOCIATED 1; INSM1

601525 CHITINASE 3-LIKE 1; CHI3L1

601559 STUVE-WIEDEMANN SYNDROME

602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1

602943 RAR-RELATED ORPHAN RECEPTOR C; RORC

603028 TOLL-LIKE RECEPTOR 2; TLR2

603216 SOLUBLE NSF-ATTACHMENT PROTEIN, GAMMA; NAPG

603819 STEROID RECEPTOR RNA ACTIVATOR 1; SRA1

604028 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG OF, C; SEC22C

604194 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4

604328 STRUCTURE-SPECIFIC RECOGNITION PROTEIN 1; SSRP1

604344 MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 1; MAN1A1

604345 MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 2; MAN1A2

604346 MANNOSIDASE, ALPHA, CLASS 1B, MEMBER 1; MAN1B1

604347 ZINC FINGER PROTEIN 265; ZNF265

604349 LAMININ, GAMMA-3; LAMC3

604350 RAS-ASSOCIATED PROTEIN RAB3D; RAB3D

604351 PHD FINGER PROTEIN 2; PHF2

605032 COMPLEXIN 1; CPLX1

605474 TOLL-LIKE RECEPTOR 9; TLR9

605800 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U-LIKE 1; HNRPUL1

606046 SYNTAXIN 18; STX18

606209 YKT6, S. CEREVISIAE, HOMOLOG OF; YKT6

607199 INTERFERON REGULATORY FACTOR 6; IRF6

607281 LSM1 PROTEIN; LSM1

607282 LSM2 PROTEIN; LSM2

607328 HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 1; HEXIM1

608469 DEAD/H BOX 17; DDX17

608512 NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1

608620 HSN2 GENE; HSN2

608649 ICHTHYOSIS PREMATURITY SYNDROME

609870 RHO GTPase-ACTIVATING PROTEIN 21; ARHGAP21

609881 RNA POLYMERASE II POLYPEPTIDE J-RELATED GENE

610351 MEK1 SUPPRESSOR 1

610494 IQ MOTIF- AND WD REPEATS-CONTAINING 1; IQWD1

610670 CYTOCHROME P450, FAMILY 2, SUBFAMILY U, POLYPEPTIDE 1; CYP2U1

610671 ZINC FINGER PROTEIN 628; ZNF628

610672 BTB/POZ DOMAIN-CONTAINING PROTEIN 14B; BTBD14B

610674 CHROMOSOME 20 OPEN READING FRAME 28; C20ORF28

610675 HEMATOPOIETIC STEM/PROGENITOR CELL PROTEIN MDS032