PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for June, 2008

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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

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