PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for October, 2006

October 31, 2006

New Entries:

610537 DIPEPTIDYL PEPTIDASE VII; DPP7

610538 UBIQUITIN-CONJUGATING ENZYME E2T; UBE2T

Clinical Synopsis for 610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Changed Entries:

134370 COMPLEMENT FACTOR H; CFH

134371 COMPLEMENT FACTOR H-RELATED 1; CFHR1

138470 COMPLEMENT FACTOR B; CFB

139250 GROWTH HORMONE 1; GH1

172270 PHOSPHOGLYCERATE KINASE 2; PGK2

601118 CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG

602630 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR; TGIF

602869 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; HNRPU

604591 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN; PBP

605336 COMPLEMENT FACTOR H-RELATED 3; CFHR3

605554 CD244 ANTIGEN; CD244

608603 GLIOMEDIN; GLDN

609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8

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

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

610538 UBIQUITIN-CONJUGATING ENZYME E2T; UBE2T

Clinical Synopsis for 210600 SECKEL SYNDROME 1

Clinical Synopsis for 606693 KUFOR-RAKEB SYNDROME; KRS

Clinical Synopsis for 606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION

Clinical Synopsis for 607271 CASPASE 8 DEFICIENCY

Clinical Synopsis for 607330 LATHOSTEROLOSIS

Clinical Synopsis for 610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

October 30, 2006

New Entries:

610534 DECAPPING ENZYME, SCAVENGER; DCPS

610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M

610536 GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY,

Clinical Synopsis for 610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M

Changed Entries:

114290 CAMPOMELIC DYSPLASIA

125240 CD55 ANTIGEN; CD55

137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A

137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG

139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1

154550 MANNOSEPHOSPHATE ISOMERASE; MPI

155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA

191170 TUMOR PROTEIN p53; TP53

229600 FRUCTOSE INTOLERANCE, HEREDITARY

248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB

249600 MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE

600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3

600726 INDIAN HEDGEHOG; IHH

601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2

601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4

602429 GLAUCOMA 1, OPEN ANGLE, D; GLC1D

602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib

602919 DOCKING PROTEIN 1; DOK1

603383 GLAUCOMA 1, OPEN ANGLE, F; GLC1F

603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B

604997 DOCKING PROTEIN 2; DOK2

606073 NADPH-DEPENDENT DIFLAVIN OXIDOREDUCTASE 1; NDOR1

606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

606689 GLAUCOMA 1, OPEN ANGLE, B; GLC1B

606693 KUFOR-RAKEB SYNDROME; KRS

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

608160 SRY-BOX 9; SOX9

608695 GLAUCOMA 1, OPEN ANGLE, J; GLC1J

608696 GLAUCOMA 1, OPEN ANGLE, K; GLC1K

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

609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36

609745 GLAUCOMA 1, OPEN ANGLE, I; GLC1I

609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G

610513 ATPase, TYPE 13A2; ATP13A2

610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M

Clinical Synopsis for 229300 FRIEDREICH ATAXIA 1; FRDA

October 28, 2006

Changed Entries:

Clinical Synopsis for 608088 NEUROPATHY, HEREDITARY SENSORY, TYPE I, WITH COUGH AND GASTROESOPHAGEAL

October 27, 2006

New Entries:

300620 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 1; VSIG1

610530 TRIPARTITE MOTIF-CONTAINING 41; TRIM41

610531 FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; FAM126A

610532 HYPOMYELINATION AND CONGENITAL CATARACT

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

Clinical Synopsis for 300602 CLARK-BARAITSER SYNDROME

Clinical Synopsis for 608088 NEUROPATHY, HEREDITARY SENSORY, TYPE I, WITH COUGH AND GASTROESOPHAGEAL

Clinical Synopsis for 610154 DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44

Clinical Synopsis for 610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS

Changed Entries:

139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE

147681 INTERLEUKIN 11; IL11

147683 INTERLEUKIN 13; IL13

147920 KABUKI SYNDROME

150340 LAMIN B1; LMNB1

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

153432 LYMPHOCYTE-SPECIFIC PROTEIN; LSP1

153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT

216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY

217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE

248340 MALPUECH FACIAL CLEFTING SYNDROME

256690 NEUROFACIODIGITORENAL SYNDROME

265430 PULMONARY HYPOPLASIA, PRIMARY

273750 THREE M SYNDROME

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

600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D

600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1

600939 INTERLEUKIN 11 RECEPTOR, ALPHA; IL11RA

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5

604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1

604672 CD209 ANTIGEN; CD209

605397 CD226 ANTIGEN; CD226

605516 CADHERIN 23; CDH23

606011 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 2; VSIG2

606120 HUMANIN

607562 INTERLEUKIN 23 RECEPTOR; IL23R

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY

610532 HYPOMYELINATION AND CONGENITAL CATARACT

Clinical Synopsis for 133020 ERYTHERMALGIA, PRIMARY

Clinical Synopsis for 166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY

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

Clinical Synopsis for 256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL

Clinical Synopsis for 277900 WILSON DISEASE

Clinical Synopsis for 300143 MENTAL RETARDATION, X-LINKED 21; MRX21

Clinical Synopsis for 300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE

Clinical Synopsis for 601808 CHROMOSOME 18q DELETION SYNDROME

Clinical Synopsis for 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

Clinical Synopsis for 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION

October 26, 2006

New Entries:

610523 TESTIS-SPECIFIC PROTEIN 14; TSGA14

610524 HUMAN ENDOGENOUS RETROVIRUS FRD ENVELOPE PROTEIN

610525 5-PRIME-@NUCLEOTIDASE, CYTOSOLIC, IA; NT5C1A

610526 5-PRIME-@NUCLEOTIDASE, CYTOSOLIC, IB; NT5C1B

610527 THIOREDOXIN DOMAIN-CONTAINING 1; TXNDC1

610529 TUMOR SUPPRESSOR CANDIDATE 1; TUSC1

Clinical Synopsis for 300143 MENTAL RETARDATION, X-LINKED 21; MRX21

Clinical Synopsis for 300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE

Clinical Synopsis for 300578 CHROMOSOME Xp11.3 DELETION SYNDROME

Clinical Synopsis for 609940 MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY

Clinical Synopsis for 610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT

Clinical Synopsis for 610006 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

Clinical Synopsis for 610143 DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62

Clinical Synopsis for 610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49

Clinical Synopsis for 610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION

Changed Entries:

107269 CD44 ANTIGEN; CD44

110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

126800 DUANE RETRACTION SYNDROME 1; DURS1

142994 HOMEOBOX GENE HB9; HLXB9

145420 HYPERTELORISM, TEEBI TYPE

176263 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

176450 CURRARINO SYNDROME

184429 SRY-BOX 2; SOX2

191440 ULNAR HYPOPLASIA

206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

219000 FRASER SYNDROME

222600 DIASTROPHIC DYSPLASIA

256050 ATELOSTEOGENESIS, TYPE II; AOII

277900 WILSON DISEASE

310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A

601835 CHEMOKINE, CC MOTIF, RECEPTOR 6; CCR6

602165 TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27

602218 SAL-LIKE 1; SALL1

604659 ENDOGENOUS RETROVIRAL FAMILY W, ENV-C7, MEMBER 1; ERVWE1

604962 T-CELL RECEPTOR-ASSOCIATED TRANSMEMBRANE ADAPTOR 1; TRAT1

605493 TRIPARTITE MOTIF-CONTAINING 3; TRIM3

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

605684 TRIPARTITE MOTIF-CONTAINING PROTEIN 34; TRIM34

605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C

606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

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

607238 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 1; COMMD1

607830 FRAS1 GENE; FRAS1

608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2

610517 CONTACTIN-ASSOCIATED PROTEIN-LIKE 3; CNTNAP3

610523 TESTIS-SPECIFIC PROTEIN 14; TSGA14

610527 THIOREDOXIN DOMAIN-CONTAINING 1; TXNDC1

610529 TUMOR SUPPRESSOR CANDIDATE 1; TUSC1

Clinical Synopsis for 105830 ANGELMAN SYNDROME; AS

Clinical Synopsis for 134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

Clinical Synopsis for 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD

Clinical Synopsis for 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Clinical Synopsis for 227280 FACIOCARDIORENAL SYNDROME

Clinical Synopsis for 245150 KEUTEL SYNDROME

Clinical Synopsis for 249100 FAMILIAL MEDITERRANEAN FEVER; FMF

Clinical Synopsis for 249600 MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE

Clinical Synopsis for 250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE

Clinical Synopsis for 250400 METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE

Clinical Synopsis for 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED

Clinical Synopsis for 600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

Clinical Synopsis for 602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL

Clinical Synopsis for 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

October 25, 2006

New Entries:

300618 PHD FINGER PROTEIN 16; PHF16

300619 CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION

610514 PHD FINGER PROTEIN 17; PHF17

610515 PHD FINGER PROTEIN 15; PHF15

610516 GLYCERATE KINASE; GLYCTK

610517 CONTACTN-ASSOCIATED PROTEIN-LIKE 3; CNTNAP3

610518 CONTACTIN-ASSOCIATED PROTEIN-LIKE 4; CNTNAP4

610519 CONTACTIN-ASSOCIATED PROTEIN-LIKE 5; CNTNAP5

610520 CD300 ANTIGEN-LIKE FAMILY, MEMBER G; CD300LG

610521 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 12; KCTD12

610522 COORDINATED EXPRESSION TO IRXA2

Clinical Synopsis for 300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 2, X-LINKED; CFTD2

Clinical Synopsis for 602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL

Clinical Synopsis for 608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO

Changed Entries:

108720 ATELOSTEOGENESIS, TYPE I; AOI

112500 BRACHYDACTYLY, TYPE A1; BDA1

116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA

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

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

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

122700 COUMARIN RESISTANCE

122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6

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

130720 LATERAL MENINGOCELE SYNDROME

133020 ERYTHERMALGIA, PRIMARY

137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A

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

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

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1

157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP

161650 NEBULIN; NEB

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1

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

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

180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A

182452 SOMATOSTATIN RECEPTOR 2; SSTR2

185250 MATRIX METALLOPROTEINASE 3; MMP3

186720 CD6 ANTIGEN; CD6

191160 TUMOR NECROSIS FACTOR; TNF

202700 NEUTROPENIA, SEVERE CONGENITAL; SCN

211980 LUNG CANCER

216400 COCKAYNE SYNDROME, TYPE A; CSA

220120 D-GLYCERIC ACIDEMIA

220900 DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM

222600 DIASTROPHIC DYSPLASIA

226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4

250250 CARTILAGE-HAIR HYPOPLASIA; CHH

264480 PSEUDOTRISOMY 13 SYNDROME

310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A

600168 MACROPHAGE STIMULATING 1 RECEPTOR; MST1R

600726 INDIAN HEDGEHOG; IHH

600807 ASTHMA, SUSCEPTIBILITY TO

601139 ZINC FINGER PROTEIN 175; ZNF175

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6

601652 MYOCILIN; MYOC

601662 ACTIVATED LEUKOCYTE CELL ADHESION MOLECULE; ALCAM

601682 GLAUCOMA 1, OPEN ANGLE, C; GLC1C

602432 OPTINEURIN; OPTN

602436 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B; MICB

602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL

602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4

603380 LIN7, C. ELEGANS, HOMOLOG A; LIN7A

603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A

604515 B-CELL LINKER PROTEIN; BLNK

605286 CALPAIN 10; CAPN10

606195 IROQUOIS HOMEOBOX PROTEIN 5; IRX5

606196 IROQUOIS HOMEOBOX PROTEIN 6; IRX6

606197 IROQUOIS HOMEOBOX PROTEIN 1; IRX1

606198 IROQUOIS HOMEOBOX PROTEIN 2; IRX2

606199 IROQUOIS HOMEOBOX PROTEIN 4; IRX4

606202 MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP

606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A

607095 ANAUXETIC DYSPLASIA

607340 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 2; GABBR2

608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3

608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO

608798 DFNA5 GENE; DFNA5

608874 OROFACIAL CLEFT 5

609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8

609581 MOVED TO 130720

610414 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15

610496 RHO GTPase-ACTIVATING PROTEIN 29; ARHGAP29

610499 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; RAPGEF6

610514 PHD FINGER PROTEIN 17; PHF17

610516 GLYCERATE KINASE; GLYCTK

610517 CONTACTN-ASSOCIATED PROTEIN-LIKE 3; CNTNAP3

610518 CONTACTIN-ASSOCIATED PROTEIN-LIKE 4; CNTNAP4

610519 CONTACTIN-ASSOCIATED PROTEIN-LIKE 5; CNTNAP5

Clinical Synopsis for 137920 RENAL CYSTS AND DIABETES SYNDROME

Clinical Synopsis for 245150 KEUTEL SYNDROME

Clinical Synopsis for 250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS

Clinical Synopsis for 255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Clinical Synopsis for 601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI

Clinical Synopsis for 605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY

Clinical Synopsis for 606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME

October 23, 2006

New Entries:

608765 SCOLIOSIS, IDIOPATHIC 3; IS3

608798 DFNA5 GENE; DFNA5

Changed Entries:

120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

128100 DYSTONIA, TORSION, 1, AUTOSOMAL DOMINANT; DYT1

128230 DYSTONIA, DOPA-RESPONSIVE; DRD

141900 HEMOGLOBIN--BETA LOCUS; HBB

145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE

147450 SUPEROXIDE DISMUTASE 1; SOD1

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

164200 OCULODENTODIGITAL DYSPLASIA; ODDD

176263 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

181800 SCOLIOSIS, IDIOPATHIC; IS1

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

235200 HEMOCHROMATOSIS; HFE

259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND

400017 THYMOSIN, BETA-4, Y CHROMOSOME; TMSB4Y

600225 GTP CYCLOHYDROLASE I; GCH1

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

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5

601510 SREBP CLEAVAGE-ACTIVATING PROTEIN

605204 TORSIN-A; DYT1

605717 INDUCIBLE T-CELL COSTIMULATOR LIGAND; ICOSLG

606270 TOLL-LIKE RECEPTOR 10; TLR10

606634 DERMCIDIN; DCD

607354 SCOLIOSIS, IDIOPATHIC 2; IS2

608714 SYNTROPHIN, GAMMA-1; SNTG1

608798 DFNA5 GENE; DFNA5

October 20, 2006

New Entries:

610501 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 1; NBPF1

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

610512 SEC23, S. CEREVISIAE, HOMOLOG OF, B; SEC23B

610513 ATPase, TYPE 13A2; ATP13A2

Changed Entries:

113705 BREAST CANCER 1 GENE; BRCA1

124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2

125220 DEFENSIN, ALPHA, 1; DEFA1

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR

138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR

142900 HOLT-ORAM SYNDROME; HOS

147781 INTERLEUKIN 4 RECEPTOR; IL4R

181450 ULNAR-MAMMARY SYNDROME; UMS

191525 URACIL-DNA GLYCOSYLASE; UNG

232300 GLYCOGEN STORAGE DISEASE II

257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1

300193 HIGH MOBILITY GROUP BOX 3; HMGB3

300490 SH2 DOMAIN PROTEIN 1A; SH2D1A

601620 T-BOX 5; TBX5

601621 T-BOX 3; TBX3

602726 CHLORIDE CHANNEL 6; CLCN6

604522 DEFENSIN, ALPHA, 3; DEFA3

605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B

605554 CD244 ANTIGEN; CD244

606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A

606800 GLUCOSIDASE, ALPHA, ACID; GAA

607623 NPC1 GENE; NPC1

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

October 19, 2006

New Entries:

610510 AURORA BOREALIS

Changed Entries:

114210 S100 CALCIUM-BINDING PROTEIN A4; S100A4

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

124015 CYTOCHROME P450 OXIDOREDUCTASE; POR

138079 GLUCOKINASE; GCK

142410 TRANSCRIPTION FACTOR 1; TCF1

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

147740 INTERLEUKIN 3; IL3

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2

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

176990 S100 CALCIUM-BINDING PROTEIN, BETA; S100B

180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A

182452 SOMATOSTATIN RECEPTOR 2; SSTR2

185800 SYMPHALANGISM, PROXIMAL; SYM1

191170 TUMOR PROTEIN p53; TP53

191525 URACIL-DNA GLYCOSYLASE; UNG

201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17

250220 METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL

253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

601047 CAVEOLIN 1; CAV1

601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5

601769 VITAMIN D RECEPTOR; VDR

602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2

602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1

603072 AURORA KINASE A; AURKA

603243 AUTOCRINE MOTILITY FACTOR RECEPTOR; AMFR

603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6

603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF

604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1

605253 NEUROPATHY, CONGENITAL HYPOMYELINATING

605523 TRANSDUCER OF ERBB2, 1; TOB1

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

607358 AUTOIMMUNE REGULATOR; AIRE

607393 HRPT2 GENE; HRPT2

607752 URACIL-DNA GLYCOSYLASE 2; UNG2

607984 SPROUTY, DROSOPHILA, HOMOLOG OF, 4; SPRY4

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

609366 SH2 DOMAIN-BINDING PROTEIN 1; SH2BP1

609708 LIPOPROTEIN LIPASE; LPL

610453 HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT

October 18, 2006

New Entries:

610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2

610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM

610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3

610506 PAF1 RNA POLYMERASE II-ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF;

610507 LEO1 RNA POLYMERASE II ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF;

610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VII; MODY7

610509 RESISTANCE TO INHIBITORS OF CHOLINESTERASE 3, C. ELEGANS, HOMOLOG

Changed Entries:

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

114840 CARBOXYL-ESTER LIPASE; CEL

120355 MATRIX METALLOPROTEINASE 8; MMP8

125520 CAYLER CARDIOFACIAL SYNDROME

139320 GNAS COMPLEX LOCUS; GNAS

143200 WAGNER SYNDROME 1; WGN1

154780 MARSHALL SYNDROME

156225 LAMININ, ALPHA-2; LAMA2

160980 CARNEY COMPLEX, TYPE 1; CNC1

165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3

168450 PARATHYROID HORMONE; PTH

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

191525 URACIL-DNA GLYCOSYLASE; UNG

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

219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH

246570 FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME

300286 KRUPPEL-LIKE FACTOR 8; KLF8

310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A

600047 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2

600943 COLLAGEN-BINDING PROTEIN 2; CBP2

601653 EYES ABSENT 1; EYA1

601769 VITAMIN D RECEPTOR; VDR

602568 METHIONINE SYNTHASE REDUCTASE; MTRR

603301 KRUPPEL-LIKE FACTOR 11; KLF11

604723 Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TSFM

604961 PHOSPHODIESTERASE 11A; PDE11A

606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY

606594 SET DOMAIN-CONTAINING PROTEIN 7; SETD7

607240 SET DOMAIN-CONTAINING PROTEIN 8; SETD8

607393 HRPT2 GENE; HRPT2

607752 URACIL-DNA GLYCOSYLASE 2; UNG2

607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

608620 HSN2 GENE; HSN2

609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1

609204 MITOCHONDRIAL RIBOSOMAL PROTEIN S16: MRPS16

609366 SH2 DOMAIN-BINDING PROTEIN 1; SH2BP1

609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, WITH EXOCRINE DYSFUNCTION;

610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM

610506 PAF1 RNA POLYMERASE II-ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF;

610509 RESISTANCE TO INHIBITORS OF CHOLINESTERASE 3, C. ELEGANS, HOMOLOG

Clinical Synopsis for 143200 WAGNER SYNDROME 1; WGN1

October 17, 2006

New Entries:

610500 ANKYRIN REPEAT AND KH DOMAIN-CONTAINING PROTEIN 1; ANKHD1

610502 RETICULON 4-INTERACTING PROTEIN 1; RTN4IP1

610503 CHROMOSOME 16 OPEN READING FRAME 5; C16ORF5

Changed Entries:

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

138275 GLUTAMIC ACID DECARBOXYLASE 2; GAD2

143023 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 7; RASSF7

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

219090 CUSHING DISEASE, PITUITARY

601510 SREBP CLEAVAGE-ACTIVATING PROTEIN

602695 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12

602974 AQUAPORIN 7; AQP7

603483 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 3; EIF4EBP3

604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1

604472 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13

604882 NEUROGENIN 3; NEUROG3

604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B

605244 CARNEY COMPLEX, TYPE II; CNC2

606624 NEUROGENIN 2; NEUROG2

607173 PROTEASOME 26S SUBUNIT, NON-ATPase, 14; PSMD14

608231 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 8; RASSF8

610222 RAS AND RAB INTERACTOR 2; RIN2

610399 TRANSMEMBRANE PROTEASE, SERINE 11E; TMPRSS11E

610414 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15

610448 CHILBLAIN LUPUS

610499 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; RAPGEF6

October 16, 2006

New Entries:

300617 BRCA1/BRCA2-CONTAINING COMPLEX, SUBUNIT 3; BRCC3

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

610495 HOM-TES-103 GENE

610496 RHO GTPase-ACTIVATING PROTEIN 29; ARHGAP29

610497 BRAIN AND REPRODUCTIVE ORGAN-EXPRESSED PROTEIN; BRE

610499 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; RAPGEF6

Changed Entries:

108300 STICKLER SYNDROME, TYPE I; STL1

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

113705 BREAST CANCER 1 GENE; BRCA1

118423 CHIMERIN 1; CHN1

118661 CHONDROITIN SULFATE PROTEOGLYCAN 2; CSPG2

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1

123900 VILLIN 2; VIL2

137240 GASTRIC INHIBITORY POLYPEPTIDE; GIP

143200 WAGNER SYNDROME 1; WGN1

152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5

179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51

300023 RHO GTPase-ACTIVATING PROTEIN 4; ARHGAP4

300116 MATURE T-CELL PROLIFERATION 1; MTCP1

300118 RHO GTPase-ACTIVATING PROTEIN 6; ARHGAP6

300617 BRCA1/BRCA2-CONTAINING COMPLEX, SUBUNIT 3; BRCC3

306700 HEMOPHILIA A

600185 BREAST CANCER 2 GENE; BRCA2

600303 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RAPGEF1

601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1

602632 PODOCALYXIN-LIKE; PODXL

602680 RHO GTPase-ACTIVATING PROTEIN 5; ARHGAP5

602732 RHO GTPase-ACTIVATING PROTEIN 1; ARHGAP1

602857 CHIMERIN 2; CHN2

603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4

604258 DELETED IN LIVER CANCER 1; DLC1

605370 RHO GTPase-ACTIVATING PROTEIN 26; ARHGAP26

606523 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 1; SRGAP1

606524 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2; SRGAP2

606525 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 3; SRGAP3

606553 SOLUTE CARRIER FAMILY 9, ISOFORM 3, REGULATORY FACTOR 2; SLC9A3R2

606748 COACTOSIN-LIKE PROTEIN 1; COTL1

608293 RHO GTPase-ACTIVATING PROTEIN 17; ARHGAP17

609405 RHO GTPase-ACTIVATING PROTEIN 8; ARHGAP8

609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR

609568 RHO GTPase-ACTIVATING PROTEIN 20; ARHGAP20

609746 RHO GTPase-ACTIVATING PROTEIN 10; ARHGAP10

609870 RHO GTPase-ACTIVATING PROTEIN 21; ARHGAP21

610351 MEK1 SUPPRESSOR 1

610352 MEK1 SUPPRESSOR 2

610492 SLAIN MOTIF FAMILY, MEMBER 2; SLAIN2

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

610496 RHO GTPase-ACTIVATING PROTEIN 29; ARHGAP29

October 13, 2006

New Entries:

300616 LEUCINE ZIPPER PROTEIN 4; LUZP4

610488 TETRATRICOPEPTIDE REPEAT DOMAIN 9; TTC9

610490 PURPLE ACID PHOSPHATASE, LONG FORM

610491 SLAIN MOTIF FAMILY, MEMBER 1; SLAIN1

610492 SLAIN MOTIF FAMILY, MEMBER 2; SLAIN2

610493 DIX DOMAIN-CONTAINING PROTEIN 1; DIXDC1

Changed Entries:

103500 TIETZ SYNDROME

104311 PRESENILIN 1; PSEN1

114180 CALMODULIN 1; CALM1

120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2

125647 DESMOPLAKIN; DSP

154700 MARFAN SYNDROME; MFS

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

176270 PRADER-WILLI SYNDROME; PWS

179520 RAS-RELATED PROTEIN 1A; RAP1A

179540 RAS-RELATED PROTEIN 2A; RAP2A

179541 RAS-RELATED PROTEIN 2B; RAP2B

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

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

235730 MOWAT-WILSON SYNDROME

300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA

300401 PROTEOLIPID PROTEIN 1; PLP1

300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC

306700 HEMOPHILIA A

600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA

601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI

602489 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED

602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF

603381 FILAMIN B; FLNB

605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B

605946 METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE

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

606478 PROTECTION OF TELOMERES 1; POT1

607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1

609449 NUDE, A. NIDULANS, HOMOLOG OF, 1; NDE1

609546 UBIQUITIN-SPECIFIC PROTEASE 29; USP29

610126 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6

610381 CONE-ROD DYSTROPHY 11

610421 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED

610493 DIX DOMAIN-CONTAINING PROTEIN 1; DIXDC1

October 12, 2006

New Entries:

610483 AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS

610484 PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN-INTERACTING PROTEIN 1

610485 LOSS OF HETEROZYGOSITY, CHROMOSOME 3, REGION 2, GENE A; LOH3CR2A

610486 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 4; LRRC4

610487 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED

Changed Entries:

101200 APERT SYNDROME

103070 ADENYLATE CYCLASE 8; ADCY8

103071 ADENYLATE CYCLASE 2; ADCY2

103072 ADENYLATE CYCLASE 1; ADCY1

108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA

114500 COLORECTAL CANCER; CRC

118502 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2

120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

133780 EXUDATIVE VITREORETINOPATHY 1; EVR1

153700 MACULAR DYSTROPHY, VITELLIFORM; VMD

153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR

163200 NEVUS SEBACEUS OF JADASSOHN

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

182940 NEURAL TUBE DEFECTS

191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO

193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI

194050 WILLIAMS-BEUREN SYNDROME; WBS

215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED

257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3

300614 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL NEUROPATHY

301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;

309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7

310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A

600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2

600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1

600291 ADENYLATE CYCLASE 3; ADCY3

600292 ADENYLATE CYCLASE 4; ADCY4

600293 ADENYLATE CYCLASE 5; ADCY5

600294 ADENYLATE CYCLASE 6; ADCY6

600385 ADENYLATE CYCLASE 7; ADCY7

600807 ASTHMA, SUSCEPTIBILITY TO

601276 ZINC FINGER PROTEIN 177; ZNF177

601401 MYELOID LEUKEMIA FACTOR 2; MLF2

601424 3-@OXOACID CoA TRANSFERASE 1; OXCT1

602489 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED

602929 LOSS OF HETEROZYGOSITY, CHROMOSOME 11, REGION 2, GENE A; LOH11CR2A

602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7

603037 LEFT-RIGHT DETERMINATION FACTOR 1; LEFTY1

603045 LOSS OF HETEROZYGOSITY, CHROMOSOME 18, REGION 1; LOH18CR1

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

603104 CARBOXYPEPTIDASE N, POLYPEPTIDE 2, 83-KD; CPN2

603302 ADENYLATE CYCLASE 9; ADCY9

603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE

604096 GLUTAMATE RECEPTOR, METABOTROPIC, 6; GRM6

604213 CHUDLEY-MCCULLOUGH SYNDROME

604519 INFLAMMATORY BOWEL DISEASE 3; IBD3

605300 ADAPTOR PROTEIN CONTAINING PH AND SH2 DOMAINS

607076 PROTEASE INHIBITOR 15; PI15

607335 BESTROPHIN 2; BEST2

607336 BESTROPHIN 4; BEST4

607337 BESTROPHIN 3; BEST3

607485 FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE

607854 BESTROPHIN 1; BEST1

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY

608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET

608329 CHROMOSOME 11 OPEN READING FRAME 9; C11ORF9

608505 MOVED TO 225750

608603 CANCER-RELATED GENE, LIVER, 2

609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO

609622 SHORT QT SYNDROME 3; SQT3

610247 ESOPHAGITIS, EOSINOPHILIC

610273 PHOSPHATIDYLINOSITOL GLYCAN, CLASS M; PIGM

610274 PHOSPHATIDYLINOSITOL GLYCAN, CLASS V; PIGV

610275 PHOSPHATIDYLINOSITOL GLYCAN, CLASS W; PIGW

610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

610324 3-@OXOACYL-ACP SYNTHASE, MITOCHONDRIAL; OXSM

610331 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 6; HES6

610353 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4

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

610371 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2

610379 WEST NILE VIRUS, SUSCEPTIBILITY TO

610380 AORTIC ANEURYSM, FAMILIAL THORACIC 5

610386 BTB/POX DOMAIN-CONTAINING PROTEIN 7; BTBD7

610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO

610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME

610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11

610478 RETINAL CONE DYSTROPHY 4; RCD4

October 11, 2006

New Entries:

610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY

610477 TRANSMEMBRANE PROTEASE, SERINE 9; TMPRSS9

610479 SRF-DEPENDENT TRANSCRIPTION REGULATION-ASSOCIATED PROTEIN; SRFBP1

610480 LEM DOMAIN-CONTAINING PROTEIN 1; LEMD1

610481 SH2 DOMAIN-CONTAINING PROTEIN D; SHD

610482 SH2 DOMAIN-CONTAINING PROTEIN E; SHE

Changed Entries:

102560 ACTIN, GAMMA-1; ACTG1

102630 ACTIN, BETA; ACTB

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

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

130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

131230 ANNEXIN A5; ANXA5

138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

169610 PEMPHIGUS VULGARIS, FAMILIAL

180860 SILVER-RUSSELL SYNDROME; SRS

187680 THIOPURINE S-METHYLTRANSFERASE; TPMT

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

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

191160 TUMOR NECROSIS FACTOR; TNF

248190 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT

254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN

256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

300394 TAFAZZIN; TAZ

302060 BARTH SYNDROME; BTHS

600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600385 ADENYLATE CYCLASE 7; ADCY7

600970 MYOSIN VI; MYO6

602081 SPEECH-LANGUAGE DISORDER 1; SPCH1

602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1

603301 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 2;

603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR

603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6

605072 GAIP C-TERMINUS-INTERACTING PROTEIN 1; GIPC1

605317 FORKHEAD BOX P2; FOXP2

605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; ARHQ

606409 ITCHY, MOUSE, HOMOLOG OF; ITCH

607844 LEM DOMAIN-CONTAINING PROTEIN 3; LEMD3

609192 LOEYS-DIETZ SYNDROME; LDS

610168 FURLONG SYNDROME: FS

Clinical Synopsis for 309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7

October 10, 2006

New Entries:

610471 VASOHIBIN 2; VASH2

610472 ACYLTRANSFERASE-LIKE 2; AYTL2

610473 LYSOPHOSPHATIDYLGLYCEROL ACYLTRANSFERASE 1; LPGAT1

610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME

610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11

610478 RETINAL CONE DYSTROPHY 4; RCD4

Changed Entries:

107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

117000 CENTRAL CORE DISEASE OF MUSCLE

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

125645 DESMOCOLLIN 2; DSC2

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

138030 GLUCAGON; GCG

164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;

179040 MOVED TO 179050

180901 RYANODINE RECEPTOR 1; RYR1

182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A

248190 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT

248250 HYPOMAGNESEMIA, PRIMARY

252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC

300056 HOLOCYTOCHROME C SYNTHASE; HCCS

309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602372 ZONADHESIN; ZAN

602712 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 2; APBA2

603369 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C

603452 MOVED TO 602712

604605 KALIRIN; KALRN

604723 Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TSFM

604934 TUBULIN-SPECIFIC CHAPERONE E; TBCE

605723 PROGRAMMED CELL DEATH 1 LIGAND 2; PDCD1LG2

606478 PROTECTION OF TELOMERES 1; POT1

606639 MITOCHONDRIAL ELONGATION FACTOR G1; GFM1

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

608171 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 4; CACNA2D4

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

609011 VASOHIBIN 1; VASH1

609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1

610036 CLAUDIN 19; CLDN19

610453 HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT

October 9, 2006

New Entries:

610468 INTERFERON-INDUCED PROTEIN 44; IFI44

610469 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-2 SUBUNIT; AP3M2

610470 TRANSFER RNA PHOSPHOTRANSFERASE 1; TRPT1

Changed Entries:

114500 COLORECTAL CANCER; CRC

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

147586 INTERFERON-GAMMA-INDUCIBLE PROTEIN 16; IFI16

163200 NEVUS SEBACEUS OF JADASSOHN

168461 CYCLIN D1; CCND1

174900 JUVENILE POLYPOSIS SYNDROME; JPS

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176730 INSULIN; INS

180901 RYANODINE RECEPTOR 1; RYR1

191290 TYROSINE HYDROXYLASE; TH

194554 ZINC FINGER PROTEIN 45; ZNF45

194555 ZINC FINGER PROTEIN 224; ZNF224

228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY

300120 CHROMOSOME X OPEN READING FRAME 6; CXORF6

300171 MYOTUBULARIN-RELATED PROTEIN 1; MTMR1

305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD

310400 MYOTUBULAR MYOPATHY 1; MTM1

516060 ATP SYNTHASE 6; MTATP6

600879 NUCLEAR RESPIRATORY FACTOR 1; NRF1

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

601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8

601206 POU DOMAIN, CLASS 2, ASSOCIATING FACTOR 1; POU2AF1

601742 TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28

601767 HUNTINGTIN-INTERACTING PROTEIN 1; HIP1

601781 MOVED TO 194554

602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1

602372 ZONADHESIN; ZAN

602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7

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

606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX

606955 MOVED TO 194555

606956 ZINC FINGER PROTEIN 256; ZNF256

610366 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-1 SUBUNIT; AP3M1

610469 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-2 SUBUNIT; AP3M2

610470 TRANSFER RNA PHOSPHOTRANSFERASE 1; TRPT1

October 6, 2006

New Entries:

610464 G PROTEIN-COUPLED RECEPTOR 156; GPR156

610466 LIMB EXPRESSION 1, MOUSE, HOMOLOG OF; LIX1

610467 PROTEIN TYROSINE PHOSPHATASE-LIKE (PROLINE INSTEAD OF CATALYTIC ARGININE),

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

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

134370 COMPLEMENT FACTOR H; CFH

138470 COMPLEMENT FACTOR B; CFB

139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE

139300 GYNECOMASTIA, HEREDITARY

139320 GNAS COMPLEX LOCUS; GNAS

153700 MACULAR DYSTROPHY, VITELLIFORM; VMD

162200 NEUROFIBROMATOSIS, TYPE I; NF1

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

188000 THROMBOCYTOPENIA 2; THC2

217000 COMPLEMENT COMPONENT 2 DEFICIENCY

218600 BALLER-GEROLD SYNDROME; BGS

220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT

231000 GAUCHER DISEASE, TYPE III

261540 PETERS-PLUS SYNDROME

300377 DYSTROPHIN; DMD

600010 INSULINOMA-ASSOCIATED 1; INSM1

602366 INTEGRIN-LINKED KINASE; ILK

602958 SERUM/GLUCOCORTICOID-REGULATED KINASE; SGK

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

603273 TUMOR PROTEIN p73-LIKE; TP73L

603571 VANIN 2; VNN2

603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1; CARM1

604167 CCCTC-BINDING FACTOR; CTCF

604401 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6

604817 CARBOHYDRATE SULFOTRANSFERASE 5; CHST5

605112 TROPOMODULIN 3; TMOD3

605566 RETICULON 4 RECEPTOR; RTN4R

605571 PIWI-LIKE 1; PIWIL1

606463 GLUCOSIDASE, BETA, ACID; GBA

606847 TCOF1 GENE; TCOF1

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607340 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 2; GABBR2

607854 BESTROPHIN 1; BEST1

607856 CINGULIN-LIKE 1; CGNL1

608221 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE-LIKE; MASTL

608270 THREONINE ASPARTASE 1; TASP1

608795 PHOSPHOLIPASE C, DELTA-3; PLCD3

609803 ANKYRIN AND ARMADILLO REPEATS-CONTAINING PROTEIN; ANKAR

610149 LOC387715 GENE

610308 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL

610464 G PROTEIN-COUPLED RECEPTOR 156; GPR156

610467 PROTEIN TYROSINE PHOSPHATASE-LIKE (PROLINE INSTEAD OF CATALYTIC ARGININE),

October 5, 2006

New Entries:

300615 BRUNNER SYNDROME

610461 RETICULON 4 RECEPTOR-LIKE 1; RTN4RL1

610462 RETICULON 4 RECEPTOR-LIKE 2; RTN4RL2

610463 NOGOB RECEPTOR

610465 FLJ20920 GENE

Changed Entries:

120920 MEMBRANE COFACTOR PROTEIN; MCP

122920 MOVED TO 304110

134370 COMPLEMENT FACTOR H; CFH

139320 GNAS COMPLEX LOCUS; GNAS

143100 HUNTINGTON DISEASE; HD

147683 INTERLEUKIN 13; IL13

147781 INTERLEUKIN 4 RECEPTOR; IL4R

147811 INTERLEUKIN 1 RECEPTOR, TYPE II; IL1R2

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

158375 MUCIN 7, SALIVARY; MUC7

160900 DYSTROPHIA MYOTONICA 1

161561 INTERLEUKIN 12B; IL12B

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

227400 FACTOR V DEFICIENCY

235400 HEMOLYTIC-UREMIC SYNDROME, ATYPICAL; aHUS

300119 INTERLEUKIN 13 RECEPTOR, ALPHA-1; IL13RA1

305360 MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1

309850 MONOAMINE OXIDASE A; MAOA

309860 MONOAMINE OXIDASE B; MAOB

600018 OPIOID RECEPTOR, MU-1; OPRM1

600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12

600807 ASTHMA, SUSCEPTIBILITY TO

602145 PROLIFERATION-ASSOCIATED 2G4, 38-KD; PA2G4

602590 p21/CDC42/RAC1-ACTIVATED KINASE 1; PAK1

602975 MOVED TO 608833

604046 OXIDATIVE STRESS-RESPONSIVE 1; OXSR1

604475 RETICULON 4; RTN4

605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1

605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

605566 RETICULON 4 RECEPTOR; RTN4R

607114 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 33; ADAM33

607928 WHIRLIN; WHRN

608593 COMPLEMENT FACTOR H-RELATED 5; CFHR5

608833 CHROMOSOME 20 OPEN READING FRAME 41; C20ORF41

609496 MOVED TO 609814

609685 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7-LIKE; CDCA7L

609814 COMPLEMENT FACTOR H DEFICIENCY

October 4, 2006

New Entries:

610459 PROLINE-RICH PROTEIN 13; PRR13

Changed Entries:

125240 CD55 ANTIGEN; CD55

134371 COMPLEMENT FACTOR H-RELATED 1; CFHR1

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3

146735 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 6; IGFBP6

147267 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 3; ITPR3

160900 DYSTROPHIA MYOTONICA 1

163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2

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

180380 RHODOPSIN; RHO

181500 SCHIZOPHRENIA; SCZD

182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A

182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA SUBUNIT; SCN2A

182391 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, ALPHA SUBUNIT; SCN3A

188060 THROMBOSPONDIN I; THBS1

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL RECESSIVE

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

600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B

600702 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A

601219 MOVED TO 182390

601298 MOVED TO 102576

603022 E4F TRANSCRIPTION FACTOR 1; E4F1

603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A

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

604096 GLUTAMATE RECEPTOR, METABOTROPIC, 6; GRM6

604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+

604385 SODIUM CHANNEL, VOLTAGE-GATED, TYPE XI, ALPHA SUBUNIT; SCN11A

604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A

604687 PROSTAGLANDIN D2 RECEPTOR; PTGDR

604933 MutY, E. COLI, HOMOLOG OF; MUTYH

605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1

607745 SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE

608214 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT; SCN3B

610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3

October 3, 2006

New Entries:

610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3

610445 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1

Changed Entries:

117141 CENTROMERIC PROTEIN C1; CENPC1

126420 TOPOISOMERASE, DNA, I; TOP1

134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA

134850 FIBRINOGEN, G GAMMA POLYPEPTIDE; FGG

139330 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

141900 HEMOGLOBIN--BETA LOCUS; HBB

163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2

176914 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP1CC

176930 COAGULATION FACTOR II; F2

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

180380 RHODOPSIN; RHO

180690 RNA, U2 SMALL NUCLEAR; RNU2

182465 SON DNA-BINDING PROTEIN; SON

203285 MOVED TO 608233

224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I

227400 FACTOR V DEFICIENCY

230800 GAUCHER DISEASE, TYPE I

268000 RETINITIS PIGMENTOSA; RP

300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A

300600 ALBINISM, OCULAR, TYPE II; OA2

300614 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL NEUROPATHY

310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1

311800 PHOSPHOGLYCERATE KINASE 1; PGK1

400010 DEAD/H BOX 3, Y-LINKED; DBY

600044 THROMBOPOIETIN; THPO

600047 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2

601065 ALANYL-tRNA SYNTHETASE; AARS

601445 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 9; NDUFB9

601772 H2A HISTONE FAMILY, MEMBER X; H2AFX

603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1

604685 HOMEOBOX A2; HOXA2

605093 LYMPHOCYTE ADAPTOR PROTEIN

605281 DEAD/H BOX 4; DDX4

606027 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 1; CPSF1

607005 GEM-ASSOCIATED PROTEIN 5

607058 GAP JUNCTION PROTEIN, ALPHA-9

607465 CODANIN 1; CDAN1

608212 LRG47, MOUSE, HOMOLOG OF

608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2

609812 DIABETES AND PANCREATIC EXOCRINE DYSFUNCTION

610445 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1

October 2, 2006

New Entries:

300614 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL NEUROPATHY

Changed Entries:

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

122920 MOVED TO 304100

134350 COMPLEMENT FACTOR D; CFD

145420 HYPERTELORISM, TEEBI TYPE

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

171300 PHEOCHROMOCYTOMA

180849 RUBINSTEIN-TAYBI SYNDROME; RSTS

191160 TUMOR NECROSIS FACTOR; TNF

191540 URATE OXIDASE; UOX

193300 VON HIPPEL-LINDAU SYNDROME; VHL

231100 HEMOCHROMATOSIS, NEONATAL

259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE

266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS

300457 NHS GENE; NHS

300530 KAWASAKI DISEASE

300614 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL NEUROPATHY

302350 NANCE-HORAN SYNDROME; NHS

304110 CRANIOFRONTONASAL SYNDROME; CFNS

561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1

600576 GATA-BINDING PROTEIN 4; GATA4

601656 GATA-BINDING PROTEIN 6; GATA6

601769 VITAMIN D RECEPTOR; VDR

601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2

601973 RETINOIC ACID RECEPTOR RESPONDER 2; RARRES2

602351 CHEMOKINE-LIKE RECEPTOR 1; CMKLR1

603201 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11; ABCB11

604457 NUCLEAR BODY PROTEIN SP110; SP110

604895 T-BOX 21; TBX21

606412 BSND GENE

606463 GLUCOSIDASE, BETA, ACID; GBA

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

607114 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 33; ADAM33

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY

608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A

609712 PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR