PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for June, 2008

June 30, 2008

New Entries:

300721 MICRO RNA LET7F2; MIRNLET7F2

300722 MICRO RNA 19B2; MIRN19B2

612139 DEP DOMAIN-CONTAINING PROTEIN 2; DEPDC2

612140 SEPTIN 14; SEPT14

612141 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4A; EPB41L4A

612142 MICRO RNA LET7A2; MIRNLET7A2

612143 MICRO RNA LET7A3; MIRNLET7A3

612144 MICRO RNA LET7C; MIRNLET7C

612145 MICRO RNA LET7D; MIRNLET7D

612146 MICRO RNA LET7F1; MIRNLET7F1

612147 MYOSIN LIGHT CHAIN KINASE 3; MYLK3

612148 MICRO RNA LET7I; MIRNLET7I

612149 RNA-BINDING MOTIF PROTEIN 9; RBM9

612150 MICRO RNA 25; MIRN25

612151 MICRO RNA 26A1; MIRN26A1

612152 MICRO RNA 26B; MIRN26B

612153 MICRO RNA 27A; MIRN27A

612154 MICRO RNA 28; MIRN28

612155 MICRO RNA 31; MIRN31

612156 MICRO RNA 33A; MIRN33A

612157 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 1; SENP1

612158 CARDIOMYOPATHY, DILATED, 1AA; CMD1AA

Changed Entries:

102573 ACTININ, ALPHA-2; ACTN2

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

105590 ANAPLASTIC LYMPHOMA KINASE; ALK

130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41

134797 FIBRILLIN 1; FBN1

142955 HOMEOBOX A1; HOXA1

164200 OCULODENTODIGITAL DYSPLASIA; ODDD

192350 VATER ASSOCIATION

269880 SHORT SYNDROME

304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2

601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS

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

605386 MICRO RNA LET7A1; MIRNLET7A1

606905 PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1

608592 CTD SMALL PHOSPHATASE-LIKE; CTDSPL

609201 UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN B; UBASH3B

610340 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4B; EPB41L4B

611249 MICRO RNA LET7B; MIRNLET7B

612139 DEP DOMAIN-CONTAINING PROTEIN 2; DEPDC2

612149 RNA-BINDING MOTIF PROTEIN 9; RBM9

612151 MICRO RNA 26A1; MIRN26A1

612152 MICRO RNA 26B; MIRN26B

June 29, 2008

Changed Entries:

225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE

June 27, 2008

New Entries:

612135 CALCIUM-BINDING TYROSINE PHOSPHORYLATION-REGULATED PROTEIN; CABYR

612136 ENOYL COENZYME A HYDRATASE DOMAIN-CONTAINING PROTEIN 1; ECHDC1

612137 RING FINGER PROTEIN 146; RNF146

Changed Entries:

104240 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 4; ST3GAL4

108360 ASIALOGLYCOPROTEIN RECEPTOR 1; ASGR1

108361 ASIALOGLYCOPROTEIN RECEPTOR 2; ASGR2

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

131800 EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE

137800 GLIOMA OF BRAIN, FAMILIAL

164160 LEPTIN; LEP

601118 CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG

601842 MOVED TO 601543

602903 KRUPPEL-LIKE FACTOR 5; KLF5

606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE

607933 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),

611756 ROPN1-LIKE PROTEIN; ROPN1L

611757 RHOPHILIN-ASSOCIATED TAIL PROTEIN 1; ROPN1

611779 FIBROUS SHEATH CABYR-BINDING PROTEIN

612002 DEP DOMAIN-CONTAINING PROTEIN 1; DEPDC1

612135 CALCIUM-BINDING TYROSINE PHOSPHORYLATION-REGULATED PROTEIN; CABYR

Clinical Synopsis for 601842 MOVED TO 601543

June 26, 2008

New Entries:

612130 GENE AMPLIFIED IN ESOPHAGEAL CANCER 1; GAEC1

612133 TRANSCRIPTION FACTOR NFE4; NFE4

612134 GLUCURONIC ACID EPIMERASE; GLCE

Changed Entries:

113705 BREAST CANCER 1 GENE; BRCA1

116806 CATENIN, BETA-1; CTNNB1

190470 TRIPEPTIDYL PEPTIDASE II; TPP2

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

300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3

301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2

313700 ANDROGEN RECEPTOR; AR

314370 UBIQUITIN-ACTIVATING ENZYME 1; UBE1

600554 INTERLEUKIN 15; IL15

601769 VITAMIN D RECEPTOR; VDR

602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2

605018 CYLD GENE; CYLD

609703 MICRO RNA 15A; MIRN15A

609704 MICRO RNA 16-1; MIRN16-1

611734 WD REPEAT-CONTAINING PROTEIN 77; WDR77

612134 GLUCURONIC ACID EPIMERASE; GLCE

June 25, 2008

New Entries:

612128 RAS-LIKE, FAMILY 10, MEMBER B; RASL10B

612129 INDOLEAMINE-PYRROLE 2,3-DIOXYGENASE-LIKE 1; INDOL1

612131 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 9; DHRS9

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

146920 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR

147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO

164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A

173350 PLASMINOGEN; PLG

176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1

176982 PROTEIN KINASE C, ZETA FORM; PRKCZ

600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2

601327 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA SUBUNIT; SCN2B

601365 DISHEVELLED 1; DVL1

601430 REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1

602220 RAS-LIKE, FAMILY 10, MEMBER A; RASL10A

602593 CORNEODESMOSIN; CDSN

604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1

607909 ANTIZYME INHIBITOR 1; AZIN1

608353 ANTIZYME INHIBITOR 2

608412 GC-RICH PROMOTER-BINDING PROTEIN 1; GPBP1

611683 FRUCTOSAMINE 3-KINASE-RELATED PROTEIN

611731 APC GENE

612129 INDOLEAMINE-PYRROLE 2,3-DIOXYGENASE-LIKE 1; INDOL1

612131 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 9; DHRS9

June 24, 2008

New Entries:

611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6

612123 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 8; PNPLA8

612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12

612125 SERTA DOMAIN-CONTAINING 3; SERTAD3

612127 17-@BETA-HYDROXYSTEROID DEHYDROGENASE XIII; HSD17B13

Changed Entries:

102620 ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2

132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4

180690 RNA, U2 SMALL NUCLEAR, 1; RNU2-1

180692 RNA, U6 SMALL NUCLEAR, 1; RNU6-1

191170 TUMOR PROTEIN p53; TP53

192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH

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

261540 PETERS-PLUS SYNDROME

313700 ANDROGEN RECEPTOR; AR

600013 TRANSCRIPTION FACTOR YY1; YY1

600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3

601007 LEPTIN RECEPTOR; LEPR

601112 THIOREDOXIN REDUCTASE 1; TXNRD1

601199 CALCIUM-SENSING RECEPTOR; CASR

601489 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS

602963 UBIQUITIN-CONJUGATING ENZYME E2D 3; UBE2D3

604256 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2

605424 MASTERMIND-LIKE 1; MAML1

607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1

607087 AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2

608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A

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

Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA 1

June 23, 2008

New Entries:

612118 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 3; IQSEC3

612119 TREHALASE DEFICIENCY

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

612121 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 1; PNPLA1

612122 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 7; PNPLA7

Changed Entries:

160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2

184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1

191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3

275360 TREHALASE; TREH

600459 ARTERIAL DISSECTION WITH LENTIGINOSIS

602567 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 1; LIMS1

603231 ZINC FINGER PROTEIN 200; ZNF200

604599 EUCHROMATIC HISTONE-LYSINE N-METHYLTRANSFERASE 2; EHMT2

605353 GHRELIN; GHRL

605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ

605906 LIM DOMAIN-BINDING 3; LDB3

606566 MYOSIN LIGHT CHAIN KINASE 2; MYLK2

608529 FIBRILLIN 3; FBN3

611589 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 5; PNPLA5

612119 TREHALASE DEFICIENCY

612122 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 7; PNPLA7

June 20, 2008

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107930 DOPA DECARBOXYLASE; DDC

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

140210 HAPTOGLOBIN-RELATED PROTEIN GENE; HPR

162010 NERVE GROWTH FACTOR RECEPTOR; NGFR

162020 NERVE GROWTH FACTOR, ALPHA SUBUNIT; NGFA

162060 GROWTH-ASSOCIATED PROTEIN 43; GAP43

162662 NEUROTROPHIN 5; NTF5

164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A

181500 SCHIZOPHRENIA; SCZD

188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

300131 PLASTIN 3; PLS3

300139 IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1

300552 MIDLINE 1; MID1

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

601199 CALCIUM-SENSING RECEPTOR; CASR

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

603029 TOLL-LIKE RECEPTOR 3; TLR3

603302 ADENYLATE CYCLASE 9; ADCY9

604007 XYLAN 1,4-BETA-XYLOSIDASE 1

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

605104 ATAXIN 2-BINDING PROTEIN 1

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

608301 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 2; LGI2

608302 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 3; LGI3

608303 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 4; LGI4

June 19, 2008

New Entries:

612116 UBIQUITIN-SPECIFIC PROTEASE 22; USP22

612117 MICRO RNA 143; MIRN143

Changed Entries:

102575 ACTININ, ALPHA-1; ACTN1

104240 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 4; ST3GAL4

108960 NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1

138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1

164980 FIBROBLAST GROWTH FACTOR 4; FGF4

173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2

179835 REPLICATION PROTEIN A1, 70-KD; RPA1

191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1

300568 MICRO RNA 221; MIRN221

516006 COMPLEX I, SUBUNIT ND6; MTND6

600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2

600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

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

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600725 SONIC HEDGEHOG; SHH

600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B

600921 FIBROBLAST GROWTH FACTOR 9; FGF9

601578 CYCLIN G1; CCNG1

601624 FICOLIN 2; FCN2

602212 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1

602576 LUNATIC FRINGE; LFNG

603276 REGULATOR OF G PROTEIN SIGNALING 5; RGS5

603725 FIBROBLAST GROWTH FACTOR 17; FGF17

604505 THYROID HORMONE RECEPTOR INTERACTOR 11; TRIP11

605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B

605386 MICRO RNA LET7A1; MIRNLET7A1

605882 BRCA1-INTERACTING PROTEIN 1; BRIP1

606416 NLR FAMILY, PYRIN-DOMAIN CONTAINING 3; NLRP3

607619 FERM DOMAIN-CONTAINING 3; FRMD3

608014 HEAT-SHOCK 22-KD PROTEIN 8; HSPB8

609582 MICRO RNA 122A; MIRN122A

609644 FANCM GENE; FANCM

June 18, 2008

New Entries:

300717 MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE

300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET

612115 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; ARHGEF3

Changed Entries:

102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING

107310 SOLUTE CARRIER FAMILY 9, ISOFORM A1; SLC9A1

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

151410 BREAKPOINT CLUSTER REGION; BCR

159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

191845 UROMODULIN; UMOD

300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1

600201 AGOUTI SIGNALING PROTEIN; ASIP

600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1

603023 IKAROS FAMILY ZINC FINGER 1; IKZF1

605041 BROOKE-SPIEGLER SYNDROME; BSS

605216 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4

606037 CD96 ANTIGEN; CD96

606980 CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1

608885 CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES,

609014 3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2

611731 APC GENE

611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9

Clinical Synopsis for 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT

June 17, 2008

New Entries:

612099 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2

612111 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8; TNFAIP8

Changed Entries:

114210 S100 CALCIUM-BINDING PROTEIN A4; S100A4

114840 CARBOXYL-ESTER LIPASE; CEL

132700 CYLINDROMATOSIS, FAMILIAL

135620 INTEGRIN, ALPHA-5; ITGA5

135630 INTEGRIN, BETA-1; ITGB1

142958 HOMEOBOX A11; HOXA11

147559 INTEGRIN, BETA-7; ITGB7

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

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

176780 PELVIC ORGAN PROLAPSE

179512 RAS-ASSOCIATED PROTEIN RAB5A; RAB5A

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

193670 WHIM SYNDROME

219700 CYSTIC FIBROSIS; CF

233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE

256700 NEUROBLASTOMA

300292 FORKHEAD BOX P3; FOXP3

600065 INTEGRIN, BETA-2; ITGB2

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST

600946 GROWTH HORMONE RECEPTOR; GHR

601436 S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2

601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

602943 RAR-RELATED ORPHAN RECEPTOR C; RORC

603031 TOLL-LIKE RECEPTOR 5; TLR5

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

605018 CYLD GENE; CYLD

605041 BROOKE-SPIEGLER SYNDROME; BSS

605557 PR DOMAIN-CONTAINING PROTEIN 16; PRDM16

606665 OPSIN 4; OPN4

608508 CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA

611020 MICRO RNA 21; MIRN21

611714 GTPase-ACTIVATING PROTEIN AND VPS9 DOMAINS 1; GAPVD1

612099 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2

June 16, 2008

New Entries:

612110 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9

612112 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 2; TNFAIP8L2

612113 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10

612114 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11

Changed Entries:

109400 BASAL CELL NEVUS SYNDROME; BCNS

113650 BRANCHIOOTORENAL SYNDROME 1; BOR1

133430 ESTROGEN RECEPTOR 1; ESR1

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

153400 LYMPHEDEMA-DISTICHIASIS SYNDROME

166710 OSTEOPOROSIS

275000 GRAVES DISEASE

300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1

300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT

600514 REELIN; RELN

601721 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 3; BIRC3

602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11

602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B

603032 STANNIN; SNN

603673 PATCHED, DROSOPHILA, HOMOLOG OF, 2; PTCH2

603742 SLIT, DROSOPHILA, HOMOLOG OF, 1; SLIT1

604299 ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE

605096 TRANSMEMBRANE PROTEIN 16G; TMEM16G

605664 KINESIN FAMILY MEMBER 20A; KIF20A

605815 NUCLEOPORIN, 62-KD; NUP62

606928 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3

606951 INTERFERON INDUCED WITH HELICASE C DOMAIN PROTEIN 1; IFIH1

607340 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 2; GABBR2

607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

608573 MOVED TO 605096

612110 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9

612113 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10

June 13, 2008

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

114610 CANNABINOID RECEPTOR 1; CNR1

124089 CYTOCHROME c OXIDASE, SUBUNIT VIb, POLYPEPTIDE 1; COX6B1

141250 HEME OXYGENASE 1; HMOX1

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

147570 INTERFERON, GAMMA; IFNG

156225 LAMININ, ALPHA-2; LAMA2

162650 NEUROTENSIN; NTS

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

167414 PAIRED BOX GENE 5; PAX5

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

173515 GLYCOPROTEIN IX, PLATELET; GP9

277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1

300032 ATR-X GENE; ATRX

600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1

600725 SONIC HEDGEHOG; SHH

601411 SARCOGLYCAN, DELTA; SGCD

601414 RETINITIS PIGMENTOSA 18; RP18

601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK

601897 ZINC FINGER PROTEIN 148; ZNF148

601933 CRYPTOCHROME 1; CRY1

602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1

602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8

603030 TOLL-LIKE RECEPTOR 4; TLR4

603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

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

604264 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3

604486 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, MITOCHONDRIAL; PPIF

605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1

605560 HOMEOBOX C10; HOXC10

607528 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 4; ROBO4

608541 RHO GTPase INVOLVED IN BETA-CATENIN, N-CADHERIN, AND NMDA RECEPTOR

610000 CENTROSOMAL PROTEIN, 55-KD; CEP55

610897 CHMP FAMILY, MEMBER 4B; CHMP4B

June 12, 2008

New Entries:

612108 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1

612109 OCULOAURICULAR SYNDROME

Changed Entries:

117140 CENTROMERIC PROTEIN B; CENPB

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

134770 FERRITIN HEAVY CHAIN 1; FTH1

134790 FERRITIN LIGHT CHAIN; FTL

142992 H6 FAMILY HOMEOBOX 1; HMX1

143100 HUNTINGTON DISEASE; HD

155760 AGGRECAN; ACAN

160900 DYSTROPHIA MYOTONICA 1

164035 NUCLEOLIN; NCL

277580 WAARDENBURG-SHAH SYNDROME

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300401 PROTEOLIPID PROTEIN 1; PLP1

300568 MICRO RNA 221; MIRN221

313430 SRY-BOX 3; SOX3

600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E

600647 H6 FAMILY HOMEOBOX 2; HMX2

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

601209 POLY(rC)-BINDING PROTEIN 1; PCBP1

601405 CHYMOTRYPSIN C; CTRC

601652 MYOCILIN; MYOC

602229 SRY-BOX 10; SOX10

602432 OPTINEURIN; OPTN

603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2

603786 STARGARDT DISEASE 4; STGD4

603835 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 10; NDUFA10

604494 INTERLEUKIN 18 RECEPTOR 1; IL18R1

604509 INTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP

604519 INFLAMMATORY BOWEL DISEASE 3; IBD3

604815 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 2; LILRB2

604818 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 3; LILRA3

605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

605474 TOLL-LIKE RECEPTOR 9; TLR9

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

606348 INFLAMMATORY BOWEL DISEASE 5; IBD5

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

607358 AUTOIMMUNE REGULATOR; AIRE

608058 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 2; G6PC2

609385 DEAD END, ZEBRAFISH, HOMOLOG OF, 1; DND1

609862 TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6

610332 OCULOOTOFACIAL DYSPLASIA

610784 MICRO RNA 29C; MIRN29C

610841 STROMAL INTERACTION MOLECULE 2; STIM2

611218 GASDERMIN 1; GSDM1

612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8

612066 POLY(ADP-RIBOSE) POLYMERASE 15; PARP15

612105 KILLIN

June 11, 2008

Changed Entries:

107580 TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A

113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS

115441 CASEIN KINASE II, BETA; CSNK2B

120270 COLLAGEN, TYPE IX, ALPHA-3; COL9A3

120361 MATRIX METALLOPROTEINASE 9; MMP9

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

136131 FLAVIN-CONTAINING MONOOXYGENASE 4; FMO4

138570 GLYCOGEN SYNTHASE 1; GYS1

142410 HNF1 HOMEOBOX A; HNF1A

150330 LAMIN A/C; LMNA

158371 MUCIN 3A, INTESTINAL; MUC3A

163728 MOVED TO 163730

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

163731 NITRIC OXIDE SYNTHASE 1; NOS1

168450 PARATHYROID HORMONE; PTH

187700 THIOREDOXIN; TXN

188060 THROMBOSPONDIN I; THBS1

188061 THROMBOSPONDIN II; THBS2

208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD

209900 BARDET-BIEDL SYNDROME; BBS

229200 BRITTLE CORNEA SYNDROME; BCS

233650 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS

249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4

275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL

300625 KITA-KYUSHU LUNG CANCER ANTIGEN 1

300705 MENTAL RETARDATION, X-LINKED 17; MRX17

300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE

300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9

300713 OTU DOMAIN-CONTAINING PROTEIN 5; OTUD5

300714 OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

602278 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4;

602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL

602666 MYOSIN XVA; MYO15A

603002 TRANSPORTIN 2; TNPO2

603932 INTERVERTEBRAL DISC DISEASE; IDD

603955 FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2

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

604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5

604744 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 2; DDAH2

604878 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 6;

604987 C-TYPE LECTIN DOMAIN FAMILY 5, MEMBER A; CLEC5A

605845 DERMATITIS, ATOPIC, 6; ATOD6

606035 FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1; FIQTL1

606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

606364 MOVED TO 606658

606384 UBIQUITIN PROTEIN LIGASE NEDD4-LIKE; NEDD4L

606448 THIOREDOXIN REDUCTASE 2; TXNRD2

606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24

606658 SPINOCEREBELLAR ATAXIA 15; SCA15

607300 PRECURSOR mRNA-PROCESSING FACTOR 8, S. CEREVISIAE, HOMOLOG OF; PRPF8

607445 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E NUCLEAR IMPORT FACTOR

607464 THYROID CARCINOMA, HURTHLE CELL

607797 SPLICING FACTOR, 38-KD

608135 ASPORIN; ASPN

608337 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 1; OTUB1

608338 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 2; OTUB2

608934 ENDONUCLEASE VIII-LIKE 3; NEIL3

608947 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13; KCTD13

609063 THIOREDOXIN 2; TXN2

609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1

609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

609752 NUCLEAR RECEPTOR COACTIVATOR 7; NCOA7

610465 ACYL-CoA SYNTHETASE FAMILY MEMBER 2; ACSF2

610784 MICRO RNA 29C; MIRN29C

610827 ZINC FINGER PROTEIN 335; ZNF335

611140 TELOMERE MAINTENANCE 2, S. CEREVISIAE, HOMOLOG OF; TELO2

612021 OTU DOMAIN-CONTAINING PROTEIN 6B; OTUD6B

612022 OTU DOMAIN-CONTAINING PROTEIN 1; OTUD1

612023 YOD1 OTU DEUBIQUITINATING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; YOD1

612024 OTU DOMAIN-CONTAINING PROTEIN 7A; OTUD7A

612025 IODOTYROSINE DEIODINASE; IYD

612026 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 7; LARP7

612027 GRP1-ASSOCIATED SCAFFOLD PROTEIN; GRASP

612028 FAT-INDUCING TRANSCRIPT 1

612029 FAT-INDUCING TRANSCRIPT 2

612030 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; CHDS9

612031 INHIBIN, BETA E; INHBE

612032 DPY30, C. ELEGANS, HOMOLOG OF: DPY30

612033 CHROMOSOME 16 OPEN READING FRAME 53; C16ORF53

612034 APC2 GENE; APC2

612035 ALANYL-tRNA SYNTHETASE 2; AARS2

612036 PROLYL-tRNA SYNTHETASE 2; PARS2

612037 MITOCHONDRIAL UBIQUITIN LIGASE ACTIVATOR OF NFKB 1; MUL1

612038 TRANSMEMBRANE EMP24 PROTEIN TRANSPORT DOMAIN-CONTAINING PROTEIN 4;

612039 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 7; AGPAT7

612040 LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 2; LPCAT2

612041 RING FINGER PROTEIN 212; RNF212

612042 RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1

612043 MICRO RNA 371; MIRN371

612044 MICRO RNA 372; MIRN372

612045 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 3; C1QTNF3

612046 E2F TRANSCRIPTION FACTOR 7; E2F7

612047 E2F TRANSCRIPTION FACTOR 8; E2F8

612048 TRANSMEMBRANE PROTEIN 43; TMEM43

612049 MYC-INDUCED NUCLEAR ANTIGEN; MINA

612050 NEDD4 FAMILY-INTERACTING PROTEIN 1; NDFIP1

612051 BRAIN-EXPRESSED, ASSOCIATED WITH NEDD4; BEAN

612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2

612053 ZINC FINGER PROTEIN 36-LIKE 2; ZFP36L2

612055 RIBOSOMAL PROTEIN S27-LIKE; RPS27L

612056 CHROMOSOME 7 OPEN READING FRAME 20; C7ORF20

612057 CHROMOSOME 9 OPEN READING FRAME 140; C9ORF140

612058 SORTING AND ASSEMBLY MACHINERY COMPONENT 50, S. CEREVISIAE, HOMOLOG

612059 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 1; LARP1

612060 ZINC FINGER AND RING FINGER PROTEIN 1; ZNRF1

612061 ZINC FINGER AND RING FINGER PROTEIN 2; ZNRF2

612062 ZINC FINGER AND RING FINGER PROTEIN 3; ZNRF3

612063 ZINC FINGER AND RING FINGER PROTEIN 4; ZNRF4

612064 GRB10-INTERACTING GYF PROTEIN 1; GIGYF1

612065 POLY(ADP-RIBOSE) POLYMERASE 9; PARP9

612073 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH

612075 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH

612076 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2; UAQTL2

612078 ZINC FINGER PROTEIN 469; ZNF469

June 10, 2008

New Entries:

612106 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 40; ZBTB40

612107 SOLUTE CARRIER FAMILY 17, MEMBER 9

Changed Entries:

137580 GILLES DE LA TOURETTE SYNDROME; GTS

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

147571 INTERFERON-INDUCED PROTEIN IFI-15K; G1P2

153000 MOVED TO 153400

153200 LYMPHEDEMA, HEREDITARY, II

153300 YELLOW NAIL SYNDROME

153400 LYMPHEDEMA-DISTICHIASIS SYNDROME

166710 OSTEOPOROSIS

191339 UBIQUITIN B; UBB

255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE

300017 FILAMIN A; FLNA

300535 OCRL GENE; OCRL

302350 NANCE-HORAN SYNDROME; NHS

310400 MYOTUBULAR MYOPATHY 1; MTM1

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

310600 NORRIE DISEASE; ND

312060 PROPERDIN DEFICIENCY, X-LINKED

312600 RETINITIS PIGMENTOSA 2, X-LINKED; RP2

601458 INFLAMMATORY BOWEL DISEASE 2; IBD2

601622 TWIST, DROSOPHILA, HOMOLOG OF, 1; TWIST1

602402 FORKHEAD BOX C2; FOXC2

603932 INTERVERTEBRAL DISC DISEASE; IDD

604146 SYNAPTOTAGMIN 7; SYT7

606348 INFLAMMATORY BOWEL DISEASE 5; IBD5

606658 SPINOCEREBELLAR ATAXIA 15; SCA15

606668 INFLAMMATORY BOWEL DISEASE 8; IBD8

606928 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3

608507 MITOFUSIN 2; MFN2

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

Clinical Synopsis for 174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD

Clinical Synopsis for 185050 STORAGE POOL PLATELET DISEASE

June 9, 2008

New Entries:

612103 OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 2A;

612104 OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 2B;

612105 KILLIN

Changed Entries:

114500 COLORECTAL CANCER; CRC

160745 MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE; MYH11

164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1

175200 PEUTZ-JEGHERS SYNDROME; PJS

180390 RIBONUCLEOTIDE REDUCTASE, M2 SUBUNIT; RRM2

180410 RIBONUCLEOTIDE REDUCTASE, M1 SUBUNIT; RRM1

184429 SRY-BOX 2; SOX2

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9

600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2

601626 LEUKEMIA, ACUTE MYELOID; AML

601881 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX

605902 UROCORTIN II; UCN2

606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP

607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H

610173 MICRO RNA 10A; MIRN10A

611576 MICRO RNA 10B; MIRN10B

612077 MICRO RNA 22; MIRN22

June 6, 2008

New Entries:

612100 AUTISM, SUSCEPTIBILITY TO, 15; AUTS15

612101 PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, BETA; PI4K2B

612102 MICRO RNA LET7G; MIRNLET7G

Changed Entries:

101200 APERT SYNDROME

102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

112260 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, BONE; BGLAP

120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1

123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

123970 CYTOCHROME C, SOMATIC; CYCS

137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2

138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB

147796 JANUS KINASE 2; JAK2

154870 MATRIX GAMMA-CARBOXYGLUTAMIC ACID; MGP

156225 LAMININ, ALPHA-2; LAMA2

158350 COWDEN DISEASE; CD

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

176801 PROSAPOSIN; PSAP

178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB

182290 SMITH-MAGENIS SYNDROME; SMS

209850 AUTISM

217090 PLASMINOGEN DEFICIENCY, TYPE I

227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1

227400 FACTOR V DEFICIENCY

231000 GAUCHER DISEASE, TYPE III

232400 GLYCOGEN STORAGE DISEASE III

260400 SHWACHMAN-DIAMOND SYNDROME; SDS

300515 FANCB GENE; FANCB

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

314995 ZINC FINGER PROTEIN 41; ZNF41

600028 DISTAL-LESS HOMEOBOX 5; DLX5

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

600525 DISTAL-LESS HOMEOBOX 3; DLX3

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

601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9

601620 T-BOX 5; TBX5

602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88

602758 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, BETA; PIK4CB

603955 FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2

603957 FLAVIN-CONTAINING MONOOXYGENASE 5; FMO5

604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1

604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2

604758 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG B; RELB

605386 MICRO RNA LET7A1; MIRNLET7A1

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

607444 SBDS GENE; SBDS

608537 VHL GENE; VHL

608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO

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

610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY

610984 COMPLEMENT FACTOR I DEFICIENCY

611016 AUTISM, SUSCEPTIBILITY TO, 10; AUTS10

611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3

611582 FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B

611650 PERIPAPILLARY ATROPHY, BETA TYPE; PPAB

611730 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 5; EPB41L5

611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;

611787 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 2, MITOCHONDRIAL; CMPK2

611812 SEX REVERSAL, FEMALE, WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS;

612100 AUTISM, SUSCEPTIBILITY TO, 15; AUTS15

June 5, 2008

Changed Entries:

102540 ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1

102574 ACTININ, ALPHA-3; ACTN3

107741 APOLIPOPROTEIN E; APOE

117340 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 2; CDR2

118865 CHOROIDAL OSTEOMA, BILATERAL

123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

136130 FLAVIN-CONTAINING MONOOXYGENASE 1; FMO1

136131 FLAVIN-CONTAINING MONOOXYGENASE 4; FMO4

143100 HUNTINGTON DISEASE; HD

147450 SUPEROXIDE DISMUTASE 1; SOD1

158810 BETHLEM MYOPATHY

160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2

162200 NEUROFIBROMATOSIS, TYPE I; NF1

164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS

167409 PAIRED BOX GENE 2; PAX2

193001 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 2; SLC18A2

194050 WILLIAMS-BEUREN SYNDROME; WBS

233400 GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II

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

300716 MENTAL RETARDATION, X-LINKED 95; MRX95

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

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

601693 UNCOUPLING PROTEIN 2; UCP2

601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1

603957 FLAVIN-CONTAINING MONOOXYGENASE 5; FMO5

604232 LEBER CONGENITAL AMAUROSIS, TYPE III

604610 RECQ PROTEIN-LIKE 3; RECQL3

604833 CHEMOKINE, CC MOTIF, LIGAND 27; CCL27

605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX

605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1

606211 SIRTUIN 6; SIRT6

606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7

607311 PROGESTERONE RECEPTOR; PGR

607472 MITOCHONDRIAL ESCAPE 1-LIKE 1; YME1L1

608071 F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4

609160 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7

609905 MYOSIN LIGHT CHAIN 9, REGULATORY; MYL9

611543 CAVITARY OPTIC DISC ANOMALIES

611932 CDGSH IRON SULFUR DOMAIN PROTEIN 1; CISD1

612082 CAPICUA, DROSOPHILA, HOMOLOG OF; CIC

612095 RETINITIS PIGMENTOSA 41; RP41

612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11

June 4, 2008

New Entries:

612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11

Changed Entries:

102540 ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

136131 FLAVIN-CONTAINING MONOOXYGENASE 4; FMO4

145500 HYPERTENSION, ESSENTIAL

179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51

191306 KINASE INSERT DOMAIN RECEPTOR; KDR

192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH

300196 TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602255 SERINE/THREONINE PROTEIN KINASE 25; STK25

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

607355 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 3; EIF2C3

608628 TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1; TBL1XR1

Clinical Synopsis for 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

June 3, 2008

New Entries:

300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES

612097 DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS

Changed Entries:

109200 ALOPECIA, ANDROGENETIC, 1; AGA1

113995 COMPLEMENT COMPONENT 5 RECEPTOR 1; C5R1

115442 CASEIN KINASE II, ALPHA-2; CSNK2A2

124000 MITOCHONDRIAL COMPLEX III DEFICIENCY

125660 DESMIN; DES

130593 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, GAMMA; EEF1G

138295 GLUTAMYL-PROLYL-tRNA SYNTHETASE; EPRS

156540 METHYLTHIOADENOSINE PHOSPHORYLASE; MTAP

162640 NEUROPEPTIDE Y; NPY

181405 AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

191480 UNCOMBABLE HAIR SYNDROME

206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA

222300 WOLFRAM SYNDROME 1; WFS1

229200 BRITTLE CORNEA SYNDROME; BCS

254900 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF

255125 MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10

300540 UCHL5-INTERACTING PROTEIN; UCHL5IP

300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS

300705 MENTAL RETARDATION, X-LINKED 17; MRX17

300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE

300710 ALOPECIA, ANDROGENETIC, 2; AGA2

300711 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4

300712 CRANIOFACIOSKELETAL SYNDROME

312000 PANHYPOPITUITARISM, X-LINKED; PHPX

600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

600960 SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED; SET

601648 PROTEASOME 26S SUBUNIT, NON-ATPase, 4; PSMD4

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602257 SCAVENGER RECEPTOR CLASS B, MEMBER 2; SCARB2

602559 EXPORTIN 1; XPO1

602574 TECTORIN, ALPHA; TECTA

602620 LEGUMAIN; LGMN

602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1

603214 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4

603550 EYES ABSENT 4; EYA4

603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21

603932 INTERVERTEBRAL DISC DISEASE; IDD

604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL

605476 CENTAURIN, GAMMA-1; CENTG1

605832 ACETYL-CoA SYNTHETASE SHORT-CHAIN FAMILY MEMBER 2; ACSS2

605980 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 1; NOD1

607139 FANCA GENE; FANCA

607242 ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-2 SUBUNIT; AP2A2

607270 AUTISM SUSCEPTIBILITY CANDIDATE 2; AUTS2

607426 COENZYME Q10 DEFICIENCY

607688 PARKINSON DISEASE 11; PARK11

607901 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 3; FERMT3

608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4

609222 DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT;

609949 G PROTEIN-COUPLED RECEPTOR 77; GPR77

610190 CARBOHYDRATE SULFOTRANSFERASE 8; CHST8

610236 LUNAPARK

610650 ADHESION-REGULATING MOLECULE 1; ADRM1

610782 MICRO RNA 29A; MIRN29A

610783 MICRO RNA 29B1; MIRN29B1

611186 MICRO RNA 9-1; MIRN9-1

611187 MICRO RNA 9-2; MIRN9-2

611188 MICRO RNA 9-3; MIRN9-3

611219 UNC45, C. ELEGANS, HOMOLOG OF, A; UNC45A

611572 OTOSCLEROSIS 7; OTSC7

611910 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER

611948 KNOBLOCH SYNDROME, TYPE III

612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9

612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10

612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11

612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12

612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13

612014 TETRATRICOPEPTIDE REPEAT DOMAIN 21B; TTC21B

612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N

612016 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9

612017 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3

612018 CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA

612019 INTESTINE-SPECIFIC HOMEOBOX; ISX

612020 SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39

612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10

612080 UBIQUINOL-CYTOCHROME c REDUCTASE, COMPLEX III SUBUNIT VII, 9.5-KD;

June 2, 2008

New Entries:

300716 MENTAL RETARDATION, X-LINKED 95; MRX95

612079 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME

612096 OTOSCLEROSIS 8; OTSC8

Changed Entries:

102630 ACTIN, BETA; ACTB

118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP

131240 ENDOTHELIN 1; EDN1

133090 ERYTHROCYTE SURFACE PROTEIN BAND 7.2; EPB72

133430 ESTROGEN RECEPTOR 1; ESR1

138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

160777 MYOSIN VA; MYO5A

166800 OTOSCLEROSIS; OTSC1

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

277700 WERNER SYNDROME; WRN

300715 MAGNESIUM TRANSPORTER 1; MAGT1

600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A

600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE

601128 H3 HISTONE, FAMILY 3A; H3F3A

601316 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10

601385 TUMOR SUPPRESSOR CANDIDATE 3; TUSC3

601562 DYNEIN, LIGHT CHAIN, LC8 TYPE, 1; DYNLL1

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602294 FORKHEAD BOX A1; FOXA1

603550 EYES ABSENT 4; EYA4

604611 RECQ PROTEIN-LIKE 2; RECQL2

604836 CHEMOKINE, CC MOTIF, RECEPTOR 4; CCR4

605106 LYSOPHOSPHATIDIC ACID RECEPTOR 3; LPAR3

605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2

605330 INTERLEUKIN 22; IL22

605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J

605480 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3

606013 F-BOX ONLY PROTEIN 5; FBXO5

606538 MYOSIN IC; MYO1C

607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

608244 OTOSCLEROSIS 3; OTSC3

608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4

608487 TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5

609110 F-BOX ONLY PROTEIN 43; FBXO43

609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2

609418 MICRO RNA 19A; MIRN19A

609903 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5

609933 REGENERATING ISLET-DERIVED 3-GAMMA; REG3G

609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6

610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7

610066 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8

610602 AlkB, E. COLI, HOMOLOG OF, 2; ALKBH2

610603 AlkB, E. COLI, HOMOLOG OF, 3; ALKBH3

610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9

611020 MICRO RNA 21; MIRN21

611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

612074 RNA-BINDING MOTIF PROTEIN 28; RBM28