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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