PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for August, 2007

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August 31, 2007

New Entries:

611399 SODIUM CHANNEL AND CLATHRIN LINKER 1; SCLT1
611401 CHROMOSOME 6 OPEN READING FRAME 15; C6ORF15
611402 DOCKING PROTEIN 6; DOK6
611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6
611404 CHROMOSOME 6 OPEN READING FRAME 21; C6ORF21

Changed Entries:

114480 BREAST CANCER
114500 COLORECTAL CANCER; CRC
123590 CRYSTALLIN, ALPHA-B; CRYAB
123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB
126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
126375 DNA METHYLTRANSFERASE 1; DNMT1
147620 INTERLEUKIN 6; IL6
164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1
194050 WILLIAMS-BEUREN SYNDROME; WBS
300386 CD40 LIGAND; CD40LG
300651 PORCUPINE, DROSOPHILA, HOMOLOG OF; PORCN
305600 FOCAL DERMAL HYPOPLASIA; FDH
600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B
600807 ASTHMA, SUSCEPTIBILITY TO
601241 HISTONE DEACETYLASE 1; HDAC1
602128 GROWTH ARREST-SPECIFIC 2-LIKE 1; GAS2L1
602220 RAS-RELATED ON CHROMOSOME 22
602856 REGULATOR OF G PROTEIN SIGNALING 10; RGS10
604370 OVARIAN CANCER, EPITHELIAL
605164 HISTONE DEACETYLASE 2; HDAC2
605952 SORTING NEXIN 9; SNX9
606750 Z-DNA BINDING PROTEIN 1; ZBP1
608271 MICROTUBULE-ACTIN CROSS-LINKING FACTOR 1; MACF1
608726 PHOSPHATASE AND ACTIN REGULATOR 4; PHACTR4
610075 ORM1-LIKE PROTEIN 3; ORMDL3
610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11;
611199 DNTT-INTERACTING PROTEIN 2; DNTTIP2
611372 STROMAL MEMBRANE-ASSOCIATED PROTEIN 1; SMAP1
611401 CHROMOSOME 6 OPEN READING FRAME 15; C6ORF15

August 30, 2007

New Entries:

611393 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER A; FAM110A
611394 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER B; FAM110B
611395 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER C; FAM110C
611396 ADIPOGENIN; ADIG
611397 TETRATRICOPEPTIDE REPEAT, ANKYRIN REPEAT, AND COILED-COIL-CONTAINING
611398 GROWTH ARREST-SPECIFIC 2-LIKE 2; GAS2L2
611400 HOX ANTISENSE INTERGENIC RNA
Clinical Synopsis for 300619 CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION
Clinical Synopsis for 610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
Clinical Synopsis for 611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4
Clinical Synopsis for 611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2

Changed Entries:

123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB
142975 HOMEOBOX C12; HOXC12
219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
225500 ELLIS-VAN CREVELD SYNDROME; EVC
229300 FRIEDREICH ATAXIA 1; FRDA
236670 WALKER-WARBURG SYNDROME
260565 PEHO SYNDROME
261540 PETERS-PLUS SYNDROME
300272 HISTONE DEACETYLASE 6; HDAC6
300292 FORKHEAD BOX P3; FOXP3
300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
300607 HYPEREKPLEXIA AND EPILEPSY
300619 CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION
600386 INHIBITOR OF DNA BINDING 2; ID2
600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E
601620 T-BOX 5; TBX5
601665 OBESITY
602265 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 9;
602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,
603072 AURORA KINASE A; AURKA
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603096 MOVED TO 262300
604457 NUCLEAR BODY PROTEIN SP110; SP110
605480 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3
606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1
607539 CAMPTOSYNPOLYDACTYLY, COMPLEX
608660 INSULIN-INDUCED GENE 2; INSIG2
610142 CENTROSOMAL PROTEIN, 290-KD; CEP290
610448 CHILBLAIN LUPUS; CHBL
610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
611064 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5
611109 CINNAMON ODOR, PLEASANTNESS OF
611112 DAPPER, ANTAGONIST OF BETA-CATENIN, 3; DACT3
611178 GALANIN-LIKE PEPTIDE; GALP
611396 ADIPOGENIN; ADIG
Clinical Synopsis for 100300 ADAMS-OLIVER SYNDROME; AOS
Clinical Synopsis for 107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC
Clinical Synopsis for 164210 HEMIFACIAL MICROSOMIA; HFM
Clinical Synopsis for 243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE
Clinical Synopsis for 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Clinical Synopsis for 310600 NORRIE DISEASE; ND
Clinical Synopsis for 608390 MYOTONIA, POTASSIUM-AGGRAVATED

August 29, 2007

New Entries:

611388 DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL, INTERACTING PROTEIN 1; DNTTIP1
611389 CHROMOSOME 6, OPEN READING FRAME 49; C6ORF49
611391 CATARACT, CORTICAL, JUVENILE-ONSET
611392 CHROMOSOME 10 OPEN READING FRAME 22; C10ORF22
Clinical Synopsis for 611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L

Changed Entries:

109200 ALOPECIA, ANDROGENETIC
112264 BONE MORPHOGENETIC PROTEIN 1; BMP1
139250 GROWTH HORMONE 1; GH1
139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE
176760 PROLACTIN; PRL
186960 T-CELL LEUKEMIA/LYMPHOMA 1A; TCL1A
216900 ACHROMATOPSIA 2; ACHM2
262300 ACHROMATOPSIA 3; ACHM3
278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
300315 NUCLEAR RNA EXPORT FACTOR 2; NXF2
300377 DYSTROPHIN; DMD
309550 FMR1 GENE; FMR1
313700 ANDROGEN RECEPTOR; AR
600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
600516 BCL2 ANTAGONIST KILLER 1; BAK1
602402 FORKHEAD BOX C2; FOXC2
602647 NUCLEAR RNA EXPORT FACTOR 1; NXF1
603096 MOVED TO {262300}
603129 LIM DOMAIN ONLY 4; LMO4
603212 BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2
603307 BEADED FILAMENT STRUCTURAL PROTEIN 1; BFSP1
603943 CYSTEINE DIOXYGENASE; CDO
605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3
608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2
611389 CHROMOSOME 6, OPEN READING FRAME 49; C6ORF49
Clinical Synopsis for 218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
Clinical Synopsis for 236670 WALKER-WARBURG SYNDROME
Clinical Synopsis for 309520 MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS
Clinical Synopsis for 606364 SPINOCEREBELLAR ATAXIA 16; SCA16

August 28, 2007

New Entries:

611377 BRACHYDACTYLY, TYPE B2; BDB2
611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9
611379 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, B; DIP2B
611380 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, C; DIP2C
611381 KALA-AZAR, SUSCEPTIBILITY TO, 2
611382 KALA-AZAR, SUSCEPTIBILITY TO, 3
611383 USHER SYNDROME, TYPE IID; USH2D
611384 PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1
611385 PROTEASOME SUBUNIT, ALPHA-TYPE, 4; PSMA4
611386 ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX; ADNP
611387 VEGF COREGULATED CHEMOKINE 1
Clinical Synopsis for 300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Changed Entries:

106165 ANGIOTENSIN RECEPTOR 1; AGTR1
107323 ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1
109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3
109730 AORTIC VALVE DISEASE
110700 BLOOD GROUP--DUFFY SYSTEM; FY
120700 COMPLEMENT COMPONENT 3; C3
121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1
134797 FIBRILLIN 1; FBN1
136630 FRAGILE SITE, FOLIC ACID TYPE, RARE, fra(12)(q13.1); FRA12A
143100 HUNTINGTON DISEASE; HD
147620 INTERLEUKIN 6; IL6
151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1
154700 MARFAN SYNDROME; MFS
163729 NITRIC OXIDE SYNTHASE 3; NOS3
164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1
176807 PROSTATE CANCER
176842 PROTEASOME SUBUNIT, ALPHA-TYPE, 2; PSMA2
186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1
190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
190685 DOWN SYNDROME
231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD
231670 GLUTARIC ACIDEMIA I
266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD
276901 USHER SYNDROME, TYPE IIA; USH2A
311360 PREMATURE OVARIAN FAILURE 1; POF1
600725 SONIC HEDGEHOG; SHH
600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2
601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1
601367 STROKE, ISCHEMIC
602436 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B; MICB
602737 CHEMOKINE, CC MOTIF, LIGAND 21; CCL21
602851 G PROTEIN-COUPLED RECEPTOR 98; GPR98
602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4
602991 NOGGIN, MOUSE, HOMOLOG OF; NOG
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
604089 HEMATOPOIETIC CELL SIGNAL TRANSDUCER; HCST
604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4
605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13
605384 INTERLEUKIN 21; IL21
605472 USHER SYNDROME, TYPE IIC; USH2C
607642 RETINOIC ACID-INDUCED GENE 1; RAI1
607711 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, A; DIP2A
607928 WHIRLIN; WHRN
608207 KALA-AZAR, SUSCEPTIBILITY TO, 1
608801 GLUTARYL-CoA DEHYDROGENASE; GCDH
608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3
608982 STATURE QUANTITATIVE TRAIT LOCUS 5
609337 BIC GENE
609510 INTERLEUKIN 31 RECEPTOR A; IL31RA
611039 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
611162 MALARIA, SUSCEPTIBILITY TO
611377 BRACHYDACTYLY, TYPE B2; BDB2
611384 PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1
Clinical Synopsis for 222448 DONNAI-BARROW SYNDROME

August 24, 2007

New Entries:

611373 LIVER-EXPRESSED ANTIMICROBIAL PEPTIDE 2; LEAP2
611374 MICRO RNA 34B; MIRN34B
611375 MICRO RNA 34C; MIRN34C
611376 VISCERAL NEUROMYOPATHY, FAMILIAL, WITH PSEUDOOBSTRUCTION, MEGADUODENUM,

Changed Entries:

160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
180475 RIBOSOMAL PROTEIN L12; RPL12
182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2
191170 TUMOR PROTEIN p53; TP53
208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE
222448 DONNAI-BARROW SYNDROME
271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
300648 CANCER/TESTIS ANTIGEN 45
300649 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 5; SLC38A5
300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
301835 ARTS SYNDROME; ARTS
311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1
601657 DERMATAN SULFATE PROTEOGLYCAN 3; DSPG3
601714 TEA DOMAIN FAMILY MEMBER 4; TEAD4
601741 CULLIN 5; CUL5
601909 G PROTEIN-COUPLED RECEPTOR 21; GPR21
602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
603521 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A-PRIME; SNRPA1
603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N
605815 NUCLEOPORIN, 62-KD; NUP62
606102 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C
606446 SLAM FAMILY, MEMBER 6; SLAMF6
606652 HEPATITIS A VIRUS CELLULAR RECEPTOR 2; HAVCR2
607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2
608012 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 2; PDIA2
608053 ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA
608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
608959 DPH3, S. CEREVISIAE, HOMOLOG OF; DPH3
609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H
610321 PROSTATE CANCER, HEREDITARY, 7
610657 KIAA0196 GENE; KIAA0196
610714 PROTEIN KINASE N3; PKN3
610909 MINICHROMOSOME MAINTENANCE COMPLEX-BINDING PROTEIN
611022 DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24
611052 SET DOMAIN-CONTAINING PROTEIN 1A; SETD1A
611053 RUN AND SH3 DOMAIN-CONTAINING 2; RUSC2
611054 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING
611055 SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B
611056 SELENOCYSTEINE LYASE; SCLY
611058 PEROXISOME BIOGENESIS FACTOR 5-LIKE; PEX5L
611059 TRANSMEMBRANE PROTEIN 113; TMEM113
611061 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C
611062 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER A; FAM20A
611063 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER B; FAM20B
611065 PROTEIN PHOSPHATASE, PP2C DOMAIN-CONTAINING, 1K; PPM1K
611066 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE-LIKE; PHLPPL
611068 SMALL NUCLEOLAR RNA, C/D BOX, 43; SNORD43
611069 RNA, U86 SMALL NUCLEOLAR
611070 SMALL NUCLEOLAR RNA, C/D BOX, 83A; SNORD83A
611071 SMALL NUCLEOLAR RNA, C/D BOX, 83B; SNORD83B
611072 DPH4, S. CEREVISIAE, HOMOLOG OF; DPH4
611074 BRAIN-SPECIFIC HOMEOBOX, MOUSE, HOMOLOG OF
611075 DPH5, S. CEREVISIAE, HOMOLOG OF; DPH5
611076 5-PRIME NUCLEOTIDASE DOMAIN-CONTAINING PROTEIN 3; NT5DC3
611077 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 4; CHCHD4
611078 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 1; CBWD1
611079 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 2; CBWD2
611080 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 3; CBWD3
611082 MIAT GENE; MIAT
611083 ALCOHOL DEHYDROGENASE, IRON-CONTAINING, 1; ADHFE1
611084 FORKHEAD BOX D4-LIKE 1; FOXD4L1
611085 FORKHEAD BOX D4-LIKE 2; FOXD4L2
611086 FORKHEAD BOX D4-LIKE 3; FOXD4L3
611088 COILED-COIL DOMAIN-CONTAINING PROTEIN 65; CCDC65
611089 MYOTUBULARIN-RELATED PROTEIN 14; MTMR14
611098 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 4; STEAP4
611099 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6
611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4
611111 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 5; DPPA5
611172 MICRO RNA 34A; MIRN34A
611360 FANCI GENE; FANCI
611369 LETHAL CONGENITAL CONTRACTURAL SYNDROME 3; LCCS3
611373 LIVER-EXPRESSED ANTIMICROBIAL PEPTIDE 2; LEAP2
611375 MICRO RNA 34C; MIRN34C

August 23, 2007

New Entries:

611364 MYOCLONIC EPILEPSY, JUVENILE, 4; EJM4
611368 MAELSTROM, DROSOPHILA, HOMOLOG OF; MAEL
611369 LETHAL CONGENITAL CONTRACTURAL SYNDROME 3; LCCS3
611370 FLJ10986
611371 ZINC FINGER PROTEIN 653; ZNF653
611372 STROMAL MEMBRANE-ASSOCIATED PROTEIN 1; SMAP1

Changed Entries:

157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
180849 RUBINSTEIN-TAYBI SYNDROME; RSTS
190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3
190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
191092 TSC2 GENE; TSC2
191160 TUMOR NECROSIS FACTOR; TNF
191175 TUMOR REJECTION ANTIGEN 1; TRA1
236670 WALKER-WARBURG SYNDROME
250100 METACHROMATIC LEUKODYSTROPHY
274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
300292 FORKHEAD BOX P3; FOXP3
300392 WAS GENE; WAS
311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
600140 CREB-BINDING PROTEIN; CREBBP
600340 PLASMA MEMBRANE PROTEOLIPID; PLLP
600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A
602700 E1A-BINDING PROTEIN, 300-KD; EP300
603031 TOLL-LIKE RECEPTOR 5; TLR5
603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE
603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N
603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B
604738 CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9
604938 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC
606102 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C
606269 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13C; TNFRSF13C
606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1
606904 EPILEPSY, JUVENILE MYOCLONIC; JME
607218 INTERFERON REGULATORY FACTOR 5; IRF5
607574 ARYLSULFATASE A; ARSA
607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2
608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD
608588 LGP2, MOUSE, HOMOLOG OF
608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX
609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
609631 DEAD/H BOX 58; DDX58
610543 CHROMOSOME 16p13.3 DELETION SYNDROME
611116 MICRO RNA 208; MIRN208
611290 NONHOMOLOGOUS END-JOINING FACTOR 1; NHEJ1
611371 ZINC FINGER PROTEIN 653; ZNF653
611372 STROMAL MEMBRANE-ASSOCIATED PROTEIN 1; SMAP1

August 22, 2007

New Entries:

300669 SPANX FAMILY, MEMBER B1; SPANXB1
300670 SPANX FAMILY, MEMBER D; SPANXD
300671 SPANX FAMILY, MEMBER E; SPANXE
611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L
611365 TRANSMEMBRANE PROTEIN 183B; TMEM183B
611366 CHROMOSOME 12 OPEN READING FRAME 10; C12ORF10
611367 ASPARTYL AMINOPEPTIDASE; DNPEP

Changed Entries:

103600 ALBUMIN; ALB
107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1
119600 CLEIDOCRANIAL DYSPLASIA; CCD
124092 INTERLEUKIN 10; IL10
125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A
175780 PORENCEPHALY, FAMILIAL
185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB
191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A
192500 LONG QT SYNDROME 1; LQT1
208900 ATAXIA-TELANGIECTASIA; AT
232240 GLYCOGEN STORAGE DISEASE Ic
268000 RETINITIS PIGMENTOSA; RP
300330 SPANX FAMILY, MEMBER C; SPANXC
300493 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER
300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
300670 SPANX FAMILY, MEMBER D; SPANXD
300671 SPANX FAMILY, MEMBER E; SPANXE
301835 ARTS SYNDROME; ARTS
310450 MOVED TO 159000
311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
311850 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1
601325 CONTACTIN 3; CNTN3
601367 STROKE, ISCHEMIC
603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F
603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10
603921 SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; SUCLA2
603931 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E1; ATP6V0E1
604490 SACSIN; SACS
604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B
604958 ACTIN-LIKE 6A; ACTL6A
605184 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 1; PAIP1
605604 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2; PAIP2
605634 SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1;
605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4
606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1
606364 SPINOCEREBELLAR ATAXIA 16; SCA16
606973 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1
606979 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8; COG8
607280 CONTACTIN 4; CNTN4
607426 COENZYME Q10 DEFICIENCY
607882 G PROTEIN-COUPLED RECEPTOR 172A; GPR172A
607883 G PROTEIN-COUPLED RECEPTOR 172B; GPR172B
607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
608465 SENATAXIN
608499 ZONA PELLUCIDA-BINDING PROTEIN 2; ZPBP2
608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1
609113 TELOMERE LENGTH, MEAN LEUKOCYTE
609390 KIAA0274
610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
610997 PROSTATE CANCER, HEREDITARY, 9
610998 METEORIN; METRN
610999 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 1; EPC1
611000 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 2; EPC2
611001 CHROMOSOME 1 OPEN READING FRAME 149; C1ORF149
611002 CHROMOSOME 16 OPEN READING FRAME 30; C16ORF30
611005 MEX3, C. ELEGANS, HOMOLOG OF, C; MEX3C
611006 IRON-SULFUR CLUSTER ASSEMBLY 1, S. CEREVISIAE, HOMOLOG OF; ISCA1
611007 MEX3, C. ELEGANS, HOMOLOG OF, A
611008 RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 3; RKHD3
611009 RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 1; RKHD1
611010 FIBROMATOSIS, GINGIVAL, 4; GINGF4
611011 CHROMOSOME 19 OPEN READING FRAME 6; C19ORF6
611012 REGULATOR OF G PROTEIN SIGNALING-LIKE 1; RGSL1
611013 REGULATOR OF G PROTEIN SIGNALING-LIKE 2; RGSL2
611014 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8
611017 TRYPSIN DOMAIN-CONTAINING PROTEIN 1; TYSND1
611018 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2B; PAIP2B
611019 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E2; ATP6V0E2
611021 NMD3, S. CEREVISIAE, HOMOLOG OF; NMD3
611023 tRNA METHYLTRANSFERASE 5, S. CEREVISIAE, HOMOLOG OF; TRMT5
611024 ZINC FINGER PROTEIN 667; ZNF667
611025 CHROMOSOME 10 OPEN READING FRAME 63; C10ORF63
611026 FATTY ACID 2-HYDROXYLASE; FA2H
611027 SHC SH2 DOMAIN-BINDING PROTEIN 1; SHCBP1
611028 TRANSMEMBRANE PROTEIN 30A; TMEM30A
611029 TRANSMEMBRANE PROTEIN 30B; TMEM30B
611030 TRANSMEMBRANE PROTEIN 30C; TMEM30C
611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2
611033 CHROMOSOME 11 OPEN READING FRAME 21; C11ORF21
611034 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER
611036 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
611037 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER),
611039 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
611042 LATE CORNIFIED ENVELOPE-LIKE PROLINE-RICH 1; LELP1
611043 LIN28, C. ELEGANS, HOMOLOG OF; LIN28
611044 LIN28, C. ELEGANS, HOMOLOG OF, B; LIN28B
611045 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3
611046 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2
611047 RETINOIC ACID EARLY TRANSCRIPT 1L; RAET1L
611048 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15A; PPP1R15A
611049 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER
611050 MYELOPROLIFERATIVE DISEASE-ASSOCIATED ANTIGEN, 6-KD
611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4
611100 PROSTATE CANCER, HEREDITARY, 10; HPC10
611101 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 5;
611116 MICRO RNA 208; MIRN208
611124 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8; MFSD8
611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF
611131 RETINITIS PIGMENTOSA 37
611134 MECKEL SYNDROME, TYPE 4; MKS4
611164 ARGININE-FIFTY HOMEOBOX; ARGFX
611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H
611238 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 7; CHCHD7
611259 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1
611367 ASPARTYL AMINOPEPTIDASE; DNPEP

August 21, 2007

New Entries:

300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA
300664 SPANX FAMILY, MEMBER N1; SPANXN1
300665 SPANX FAMILY, MEMBER N2; SPANXN2
300666 SPANX FAMILY, MEMBER N3; SPANXN3
300667 SPANX FAMILY, MEMBER N4; SPANXN4
300668 SPANX FAMILY, MEMBER N5; SPANXN5
611302 ATAXIA, SPASTIC, AUTOSOMAL RECESSIVE, 2; SAX2
611360 FANCI GENE; FANCI
611363 ATRIAL SEPTAL DEFECT 4; ASD4

Changed Entries:

104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT
108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
141250 HEME OXYGENASE 1; HMOX1
158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
163980 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 6; CEACAM6
164210 HEMIFACIAL MICROSOMIA; HFM
164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1
222448 DONNAI-BARROW SYNDROME
227290 MOVED TO 222448
227650 FANCONI ANEMIA; FA
245400 LACTIC ACIDOSIS, FATAL INFANTILE
253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4
300305 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER
300664 SPANX FAMILY, MEMBER N1; SPANXN1
300665 SPANX FAMILY, MEMBER N2; SPANXN2
300666 SPANX FAMILY, MEMBER N3; SPANXN3
300667 SPANX FAMILY, MEMBER N4; SPANXN4
600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2
600576 GATA-BINDING PROTEIN 4; GATA4
602681 FORKHEAD BOX O3A; FOXO3A
602783 PARAPLEGIN; SPG7
603149 INTERLEUKIN 17A; IL17A
603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,
604379 HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH
604958 ACTIN-LIKE 6A; ACTL6A
605204 TORSIN-A; DYT1
606009 DOUBLE HOMEOBOX PROTEIN 4; DUX4
606061 T-BOX 20; TBX20
607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
607270 KIAA0442
607365 LIPASE H; LIPH
609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J
609167 MOVED TO 604379
611005 MEX3, C. ELEGANS, HOMOLOG OF, C; MEX3C
611046 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2
611224 SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT; SUCLG1

August 20, 2007

New Entries:

611284 DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD
611359 ACTIVATING MOLECULE IN BECLIN 1-REGULATED AUTOPHAGY
611361 UBIQUITIN-ACTIVATING ENZYME E1-LIKE 2; UBE1L2
611362 UBIQUITIN-CONJUGATING ENZYME E2Z; UBE2Z

Changed Entries:

119540 CLEFT PALATE, ISOLATED; CPI
121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1
159440 MYELIN PROTEIN ZERO; MPZ
164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1
232600 GLYCOGEN STORAGE DISEASE V
254900 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF
263800 GITELMAN SYNDROME
300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
300624 FRAGILE X MENTAL RETARDATION SYNDROME
308350 INFANTILE SPASM SYNDROME, X-LINKED
311750 MOVED TO 170650
312750 RETT SYNDROME; RTT
314370 UBIQUITIN-ACTIVATING ENZYME 1; UBE1
600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 1; EIF4G1
600968 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 3;
601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2
608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2
609304 MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN
611150 ATAXIN 10; ATXN10
611223 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 3; AKT3
611361 UBIQUITIN-ACTIVATING ENZYME E1-LIKE 2; UBE1L2
Clinical Synopsis for 311750 MOVED TO 170650

August 17, 2007

New Entries:

300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
611341 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11
611342 CHROMOSOME 9 OPEN READING FRAME 64; C9ORF64
611343 CHROMOSOME 9 OPEN READING FRAME 103; C9ORF103
611344 RAS AND EF-HAND DOMAINS-CONTAINING PROTEIN; RASEF
611345 INTEGRATOR COMPLEX SUBUNIT 1; INTS1
611346 INTEGRATOR COMPLEX SUBUNIT 2; INTS2
611347 INTEGRATOR COMPLEX SUBUNIT 3; INTS3
611348 INTEGRATOR COMPLEX SUBUNIT 4; INTS4
611349 INTEGRATOR COMPLEX SUBUNIT 5; INTS5
611350 INTEGRATOR COMPLEX SUBUNIT 7; INTS7
611351 INTEGRATOR COMPLEX SUBUNIT 8; INTS8
611352 INTEGRATOR COMPLEX SUBUNIT 9; INTS9
611353 INTEGRATOR COMPLEX SUBUNIT 10; INTS10
611354 CLEAVAGE AND POLYADENYLATION-SPECIFIC FACTOR 3-LIKE; CPSF3L
611355 INTEGRATOR COMPLEX SUBUNIT 12; INTS12
611356 G KINASE-ANCHORING PROTEIN 1; GKAP1
611357 FAMILY WITH SEQUENCE SIMILARITY 46, MEMBER A; FAM46A

Changed Entries:

107400 PROTEASE INHIBITOR 1; PI
109091 CALRETICULIN; CALR
109150 MACHADO-JOSEPH DISEASE; MJD
114480 BREAST CANCER
127750 DEMENTIA, LEWY BODY; DLB
131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME
143100 HUNTINGTON DISEASE; HD
153432 LYMPHOCYTE-SPECIFIC PROTEIN; LSP1
159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL
163890 SYNUCLEIN, ALPHA; SNCA
168600 PARKINSON DISEASE; PD
176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1
176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
311850 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
600189 TRANSDUCIN-LIKE ENHANCER OF SPLIT 1; TLE1
600712 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; HNRNPK
600982 MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1
601184 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 3; DNAJC3
601285 DELETED IN SPLIT-HAND/SPLIT-FOOT 1 REGION
601964 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 7; DNAJC7
602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10
602634 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 9; DNAJB9
603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A
603762 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE-ASSOCIATED PROTEIN 2; PRPSAP2
604139 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 2; DNAJB2
604189 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 4; DNAJC4
604331 INTEGRATOR COMPLEX SUBUNIT 6; INTS6
604572 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 1; DNAJB1
605046 UBIQUILIN 1; UBQLN1
605132 TRANSDUCIN-LIKE ENHANCER OF SPLIT 4; TLE4
606060 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 12; DNAJC12
606092 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 14; DNAJC14
606195 IROQUOIS HOMEOBOX PROTEIN 5; IRX5
606463 GLUCOSIDASE, BETA, ACID; GBA
608269 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER),
608375 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; DNAJC6
608376 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 12; DNAJB12
608977 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 19; DNAJC19
610404 RECQ-MEDIATED GENOME INSTABILITY 1, S. CEREVISIAE, HOMOLOG OF; RMI1
611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6
611203 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5; DNAJC5
611207 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 1; DNAJC1
611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9
611253 KINESIN FAMILY MEMBER 27, KIF27
611335 SMALL NUCLEOLAR RNA, H/ACA BOX, 5C; SNORA5C
611341 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11

August 16, 2007

New Entries:

300662 SMALL NUCLEOLAR RNA, H/ACA BOX, 11; SNORA11
300663 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, A; ATG4A
611323 CALSYNTENIN 2; CLSTN2
611324 CALSYNTENIN 3; CLSTN3
611326 CELL CYCLE PROGRESSION 1; CCPG1
611327 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 4; DNAJB4
611328 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 5; DNAJB5
611329 SMALL CAJAL BODY-SPECIFIC RNA 18; SCARNA18
611330 SMALL NUCLEOLAR RNA, H/ACA BOX, 12; SNORA12
611331 SMALL NUCLEOLAR RNA, H/ACA BOX, 74B; SNORA74B
611332 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 6; DNAJB6
611333 SMALL NUCLEOLAR RNA, H/ACA BOX, 45; SNORA45
611334 SMALL NUCLEOLAR RNA, H/ACA BOX, 81; SNORA81
611335 SMALL NUCLEOLAR RNA, HBI-80
611336 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 7; DNAJB7
611337 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 8; DNAJB8
611338 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, B; ATG4B
611339 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, C; ATG4C
611340 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, D; ATG4D

Changed Entries:

125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
133780 EXUDATIVE VITREORETINOPATHY 1; EVR1
146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3
147440 INSULIN-LIKE GROWTH FACTOR I; IGF1
179820 RENIN; REN
180645 SMALL NUCLEOLAR RNA, H/ACA BOX, 73A; SNORA73A
180646 SMALL NUCLEOLAR RNA, H/ACA BOX, 62; SNORA62
180647 SMALL NUCLEOLAR RNA, H/ACA BOX, 63; SNORA63
182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A
182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A
191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2
600072 FATAL FAMILIAL INSOMNIA; FFI
600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3
601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
601964 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 7; DNAJC7
602837 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 1; DNAJA1
603239 SMALL NUCLEOLAR RNA, H/ACA BOX, 73B; SNORA73B
605125 GABA-A RECEPTOR-ASSOCIATED PROTEIN; GABARAP
605548 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 15; ADAM15
606035 FASTING GLUCOSE AND SPECIFIC INSULIN LEVELS
607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
607420 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 1; GABARAPL1
607452 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 2; GABARAPL2
608382 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 3; DNAJA3
608629 JOUBERT SYNDROME 3; JBTS3
608894 ABELSON HELPER INTEGRATION SITE 1; AHI1
609604 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, BETA; MAP1LC3B
610263 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 13; DNAJB13
611322 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 2; DNAJA2
611325 TRANSFORMING GROWTH FACTOR-BETA REGULATOR 4; TBRG4
611327 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 4; DNAJB4
611331 SMALL NUCLEOLAR RNA, H/ACA BOX, 74B; SNORA74B
611332 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 6; DNAJB6
611336 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 7; DNAJB7
611337 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 8; DNAJB8

August 15, 2007

New Entries:

611321 CALSYNTENIN 1; CLSTN1
611322 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 2; DNAJA2
611325 TRANSFORMING GROWTH FACTOR-BETA REGULATOR 4; TBRG4

Changed Entries:

106165 ANGIOTENSIN RECEPTOR 1; AGTR1
114251 CALSEQUESTRIN 2; CASQ2
118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
165260 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 22; ZSCAN22
176807 PROSTATE CANCER
191510 COLD-SHOCK DOMAIN-CONTAINING E1, RNA-BINDING; CSDE1
223100 LACTASE PERSISTENCE
246530 LEUKOTRIENE C4 SYNTHASE; LTC4S
254130 MIYOSHI MYOPATHY; MM
258900 OROTIC ACIDURIA I
300535 OCRL GENE; OCRL
600541 ETS VARIANT GENE 1; ETV1
600611 FK506-BINDING PROTEIN 4; FKBP4
600933 COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1
601097 PERIPHERAL MYELIN PROTEIN 22; PMP22
601128 H3 HISTONE, FAMILY 3A; H3F3A
601144 BRUGADA SYNDROME
601261 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 21; ZSCAN21
601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6
602044 UNCOUPLING PROTEIN 3; UCP3
602648 CHEMOKINE-BINDING PROTEIN 2; CCBP2
603009 DYSFERLIN; DYSF
603286 KISS1 METASTASIS SUPPRESSOR; KISS1
603978 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 12; ZSCAN12
604480 SIRTUIN 2; SIRT2
604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;
605140 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 7; CCT7
611315 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 20; ZSCAN20
611322 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY A, MEMBER 2; DNAJA2

August 14, 2007

New Entries:

611319 FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER A; FAM14A
611320 FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER B; FAM14B

Changed Entries:

105590 ANAPLASTIC LYMPHOMA KINASE; ALK
138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2
147572 INTERFERON-ALPHA-INDUCIBLE PROTEIN 6; IFI6
211980 LUNG CANCER
222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
600009 INTERFERON-ALPHA-INDUCIBLE PROTEIN 27; IFI27
600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2
603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP
604099 GLUTAMATE RECEPTOR, METABOTROPIC, 2; GRM2
607442 ECHINODERM MICROTUBULE ASSOCIATED PROTEIN LIKE-4; EML4
611303 C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A

August 13, 2007

New Entries:

611311 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
611316 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER),
611317 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 5; PIK3R5
611318 MED12-LIKE; MED12L

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2
104615 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
106210 ANIRIDIA, TYPE II; AN2
117140 CENTROMERIC PROTEIN B; CENPB
118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
133170 ERYTHROPOIETIN; EPO
133180 ERYTHROLEUKEMIA, FAMILIAL
133780 EXUDATIVE VITREORETINOPATHY 1; EVR1
139185 GROWTH ARREST-SPECIFIC 1; GAS1
142989 HOMEOBOX D13; HOXD13
163980 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 6; CEACAM6
170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA
171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 1; PIK3R1
194538 ZINC FINGER PROTEIN 10; ZNF10
236100 HOLOPROSENCEPHALY
300443 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
300506 TSC22 DOMAIN FAMILY, MEMBER 3; TSC22D3
601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG
601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601872 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
602610 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 4; PIK3R4
602700 E1A-BINDING PROTEIN, 300-KD; EP300
603157 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2
603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,
603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A
603752 SOLUTE CARRIER FAMILY 7 (CARIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE
604144 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
604235 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
604316 PSORIASIS SUSCEPTIBILITY 5; PSORS5
605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1
605641 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
606076 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 3; PIK3R3
606844 ALMS1 GENE; ALMS1
607108 PAIRED BOX GENE 6; PAX6
607933 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
607959 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
608537 VHL GENE; VHL
610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD
611316 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER),
Clinical Synopsis for 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS

August 10, 2007

New Entries:

611314 CHROMOSOME 15 OPEN READING FRAME 21; C15ORF21
611315 ZINC FINGER AND SCAN DOMAIN-CONTAINING PROTEIN 20; ZSCAN20

Changed Entries:

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A
123838 CYCLIN C; CCNC
139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE
165260 ZINC FINGER AND SCAN DOMAIN-CONTAINING PROTEIN 22; ZSCAN22
300188 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE,
300322 LESCH-NYHAN SYNDROME; LNS
308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
601261 ZINC FINGER AND SCAN DOMAIN-CONTAINING PROTEIN 21; ZSCAN21
602667 NBS1 GENE; NBS1
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603184 CYCLIN-DEPENDENT KINASE 8; CDK8
603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4
603810 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 17, S. CEREVISIAE,
603978 ZINC FINGER PROTEIN 96
604479 SIRTUIN 1; SIRT1
610551 HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENT
610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
611313 LOC387715 GENE

August 9, 2007

New Entries:

611308 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT
611312 CORNULIN; CRNN
611313 LOC387715 GENE

Changed Entries:

135940 FILAGGRIN; FLG
136140 FLOATING-HARBOR SYNDROME
138960 COLONY-STIMULATING FACTOR 2; CSF2
141900 HEMOGLOBIN--BETA LOCUS; HBB
147440 INSULIN-LIKE GROWTH FACTOR I; IGF1
153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1
158020 MOVED TO 600182
158070 SOLUTE CARRIER FAMILY 3 (ACTIVATOR OF DIBASIC AND NEUTRAL AMINO ACID
185900 SYNDACTYLY, TYPE I
191100 TUBEROUS SCLEROSIS; TS
194355 X BOX-BINDING PROTEIN 1; XBP1
203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2
206920 MICROPHTHALMIA WITH LIMB ANOMALIES
211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1
214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
220200 DANDY-WALKER SYNDROME; DWS
227220 EYE COLOR 3; EYCL3
254780 MYOCLONIC EPILEPSY OF LAFORA
257910 OCULOPALATOCEREBRAL SYNDROME
262000 BJORNSTAD SYNDROME; BJS
263400 ERYTHROCYTOSIS, FAMILIAL, 2
274600 PENDRED SYNDROME; PDS
300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4
300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1
300647 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B
600182 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
600637 SOLUTE CARRIER FAMILY 1 (HIGH AFFINITY ASPARTATE/GLUTAMATE TRANSPORTER),
600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22
600791 ENLARGED VESTIBULAR AQUEDUCT; EVA
601093 FORKHEAD BOX I1; FOXI1
601489 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS
601808 CHROMOSOME 18q DELETION SYNDROME
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5
603545 MOVED TO 600791
603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),
604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2
604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR
604985 SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2
605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B
605284 TSC1 GENE; TSC1
605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4
605707 MOVED TO 604985
605708 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 11; ARHGEF11
609397 STORKHEAD BOX 1; STOX1
609814 COMPLEMENT FACTOR H DEFICIENCY
609815 ZYGODACTYLY 1
610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7
610233 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS
610453 HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT
610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED
611297 ODD-SKIPPED-RELATED 2; OSR2
611308 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT
611313 LOC387715 GENE

August 8, 2007

New Entries:

611309 CHROMOSOME 10 OPEN READING FRAME; C10ORF10
611310 PHOSPHOSERYL-tRNA KINASE; PSTK

Changed Entries:

313450 REMOVED FROM DATABASE
313460 REMOVED FROM DATABASE
601212 PROTEIN-TYROSINE KINASE 2, BETA; PTK2B
604513 CD84 ANTIGEN; CD84
604712 RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B
609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
611309 CHROMOSOME 10 OPEN READING FRAME; C10ORF10
611310 PHOSPHOSERYL-tRNA KINASE; PSTK

August 7, 2007

New Entries:

611306 SCAVENGER RECEPTOR CLASS A, MEMBER 5; SCARA5

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP
155720 MELANOMA, UVEAL
218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14
600803 GALLBLADDER DISEASE 1; GBD1
602227 CHEMOKINE, CC MOTIF, LIGAND 19; CCL19
602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2
602361 GRACILE BONE DYSPLASIA
602737 CHEMOKINE, CC MOTIF, LIGAND 21; CCL21
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1
605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13
605248 MUCOLIPIN 1; MCOLN1
606035 FASTING GLUCOSE AND SPECIFIC INSULIN LEVELS
607043 TRAF3-INTERACTING PROTEIN 2; TRAF3IP2
607380 TRAF3-INTERACTING PROTEIN 1; TRAF3IP1
608255 TRAF3-INTERACTING PROTEIN 3; TRAF3IP3
608465 SENATAXIN
610551 HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENT
610574 R-SPONDIN FAMILY, MEMBER 3; RSPO3
611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8
611259 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1

August 6, 2007

New Entries:

611263 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2
611300 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 6; LARP6
611301 CHROMOSOME 17 OPEN READING FRAME 70; C17ORF70
611303 C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A
611304 TRANSMEMBRANE PROTEIN 159; TMEM159
611305 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 3; ABLIM3

Changed Entries:

102560 ACTIN, GAMMA-1; ACTG1
109090 SJOGREN SYNDROME ANTIGEN B; SSB
142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1
143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2
146730 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1
153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1
164210 HEMIFACIAL MICROSOMIA; HFM
166260 GNATHODIAPHYSEAL DYSPLASIA; GDD
182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1
208500 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1
300127 OLIGOPHRENIN 1; OPHN1
300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX
300644 GALACTOSIDASE, ALPHA; GLA
313450 SURFACE ANTIGEN, X-LINKED; S11
313460 MOVED TO 313450
590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK
600298 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, ALPHA; LMX1A
601665 OBESITY
602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2
602329 SUPPRESSOR OF LIN12-LIKE; SEL1L
602330 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 1; ABLIM1
603780 RECQ PROTEIN-LIKE 4; RECQL4
604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1
604611 RECQ PROTEIN-LIKE 2; RECQL2
604870 MACROPHAGE RECEPTOR WITH COLLAGENOUS STRUCTURE; MARCO
604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC
605872 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER M; CLEC4M
606006 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN
606211 SIRTUIN 6; SIRT6
607139 FANCA GENE; FANCA
607194 PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT; PTF1A
607621 COLLECTIN 12; COLEC12
607779 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 7; PAQR7
607817 COH1 GENE; COH1
607903 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH
608272 NEURAMINIDASE 1; NEU1
608990 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1
609825 COQ2, S. CEREVISIAE, HOMOLOG OF; COQ2
609826 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER
610665 Fc FRAGMENT OF IgG, LOW AFFINITY IIIb, RECEPTOR FOR; FCGR3B
610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO
611177 INTRAFLAGELLAR TRANSPORT 80, CHLAMYDOMONAS, HOMOLOG OF; IFT80
611299 KIAA1333
611300 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 6; LARP6

August 3, 2007

New Entries:

611290 NONHOMOLOGOUS END-JOINING FACTOR 1; NHEJ1
611291 SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,
611294 ONE CUT HOMEOBOX 3; ONECUT3
611295 KELCH-LIKE 24; KLHL24
611296 CHROMOSOME 5 OPEN READING FRAME 39; C5ORF39
611297 ODD-SKIPPED-RELATED 2; OSR2
611298 KIAA1324
611299 KIAA1333

Changed Entries:

119915 CLUSTER HEADACHE, FAMILIAL
126420 TOPOISOMERASE, DNA, I; TOP1
142410 TRANSCRIPTION FACTOR 1; TCF1
147620 INTERLEUKIN 6; IL6
157900 MOEBIUS SYNDROME; MBS
167050 OXYTOCIN; OXT
171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 1; PIK3R1
171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA
176000 PORPHYRIA, ACUTE INTERMITTENT
182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
557000 PEARSON MARROW-PANCREAS SYNDROME
600072 FATAL FAMILIAL INSOMNIA; FFI
600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
600288 FORKHEAD BOX A2; FOXA2
601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
601993 NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2
602393 HYPOCRETIN RECEPTOR 2; HCRTR2
604046 OXIDATIVE STRESS-RESPONSIVE 1; OXSR1
604047 ORGANIC-CATION TRANSPORTER-LIKE 3; ORCTL3
604048 ORGANIC-CATION TRANSPORTER-LIKE 4; ORCTL4
604050 DELETED IN LUNG AND ESOPHAGEAL CANCER 1; DLEC1
604164 ONE CUT HOMEOBOX 1; ONECUT1
604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2
604277 SPG4 GENE; SPG4
604894 ONE CUT HOMEOBOX 2; ONECUT2
606596 FUKUTIN-RELATED PROTEIN; FKRP
606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8;
607136 SPINOCEREBELLAR ATAXIA 17; SCA17
607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I
608620 HSN2 GENE; HSN2
608891 ODD-SKIPPED-RELATED 1; OSR1
609674 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 1; ESCO1
609806 HYDROXYMETHYLBILANE SYNTHASE; HMBS
611294 ONE CUT HOMEOBOX 3; ONECUT3
611295 KELCH-LIKE 24; KLHL24
611296 CHROMOSOME 5 OPEN READING FRAME 39; C5ORF39

August 2, 2007

New Entries:

611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32
611285 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 5; KCTD5
611286 RNA TERMINAL PHOSPHATE CYCLASE DOMAIN-CONTAINING PROTEIN 1; RTCD1
611287 CORNICHON, DROSOPHILA, HOMOLOG OF; CNIH
611288 CORNICHON, DROSOPHILA, HOMOLOG OF, 2; CNIH2
611289 LEUCINE-RICH ALPHA-2-GLYCOPROTEIN 1; LRG1
611292 RETINALDEHYDE-BINDING PROTEIN 1-LIKE 1; RLBP1L1
611293 COILED-COIL DOMAIN-CONTAINING PROTEIN 86; CCDC86

Changed Entries:

107777 AQUAPORIN 2; AQP2
125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1
149400 HYPEREKPLEXIA, HEREDITARY
154700 MARFAN SYNDROME; MFS
166200 OSTEOGENESIS IMPERFECTA, TYPE I
166210 OSTEOGENESIS IMPERFECTA, TYPE IIA
166220 OSTEOGENESIS IMPERFECTA, TYPE IV
182290 SMITH-MAGENIS SYNDROME; SMS
218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
259420 OSTEOGENESIS IMPERFECTA, TYPE III
277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
300401 PROTEOLIPID PROTEIN 1; PLP1
300538 ARGININE VASOPRESSIN RECEPTOR 2; AVPR2
304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
312080 PELIZAEUS-MERZBACHER DISEASE; PMD
600723 MEMBRANE PROTEIN, PALMITOYLATED 2; MPP2
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
602623 FK506-BINDING PROTEIN 5; FKBP5
602629 DYSTONIA 6, TORSION; DYT6
603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP
604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8
604878 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 6;
604879 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER
605284 TSC1 GENE; TSC1
607642 RETINOIC ACID-INDUCED GENE 1; RAI1
608896 SARCOGLYCAN, GAMMA; SGCG
611233 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS-LIKE 1; ARMETL1
611279 KINESIN FAMILY MEMBER 14; KIF14
611280 KELCH DOMAIN-CONTAINING PROTEIN 2; KLHDC2
611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
611285 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 5; KCTD5
611287 CORNICHON, DROSOPHILA, HOMOLOG OF; CNIH
611288 CORNICHON, DROSOPHILA, HOMOLOG OF, 2; CNIH2
611289 LEUCINE-RICH ALPHA-2-GLYCOPROTEIN 1; LRG1

August 1, 2007

New Entries:

611274 GLAUCOMA 1, OPEN ANGLE, N; GLC1N
611275 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2-LIKE; BNIPL
611276 GLAUCOMA 1, OPEN ANGLE, H; GLC1H
611278 KINESIN FAMILY MEMBER 12; KIF12
611279 KINESIN FAMILY MEMBER 14; KIF14
611280 KELCH DOMAIN-CONTAINING PROTEIN 2; KLHDC2
611281 KELCH DOMAIN-CONTAINING PROTEIN 1; KLHDC1
611282 DYNAMIN-BINDING PROTEIN; DNMBP
611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

Changed Entries:

137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
191092 TSC2 GENE; TSC2
191100 TUBEROUS SCLEROSIS; TS
208050 ARTERIAL TORTUOSITY SYNDROME; ATS
245200 KRABBE DISEASE
602357 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 1; WIPF1
604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL
604733 TRYPTOPHANYL-tRNA SYNTHETASE 2; WARS2
604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8
605284 TSC1 GENE; TSC1
607014 HURLER SYNDROME
608695 GLAUCOMA 1, OPEN ANGLE, J; GLC1J
608696 GLAUCOMA 1, OPEN ANGLE, K; GLC1K
609692 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 2; WIPF2
610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M
611274 GLAUCOMA 1, OPEN ANGLE, N; GLC1N
611275 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2-LIKE; BNIPL

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