PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for August, 2005

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August 31, 2005

New Entries:

609558 PROSTATE CANCER, HEREDITARY, 6
609561 CARBOXYPEPTIDASE A5; CPA5
609562 CARBOXYPEPTIDASE A6; CPA6
609563 CARBOXYPEPTIDASE O; CPO
609564 POLY(ADP-RIBOSE) POLYMERASE 10; PARP10

Changed Entries:

118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD
119600 CLEIDOCRANIAL DYSPLASIA; CCD
126800 DUANE RETRACTION SYNDROME 1; DURS1
133020 ERYTHERMALGIA, PRIMARY
143095 HUMEROSPINAL DYSOSTOSIS
143100 HUNTINGTON DISEASE; HD
158320 MUIR-TORRE SYNDROME; MTS
176807 PROSTATE CANCER
200150 CHOREOACANTHOCYTOSIS; CHAC
217050 COMPLEMENT COMPONENT 6 DEFICIENCY
245570 LANDAU-KLEFFNER SYNDROME; LKS
309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1
311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA
600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2
600776 ANOPHTHALMIA-PLUS SYNDROME
601282 PLECTIN 1; PLEC1
601465 DEOXYGUANOSINE KINASE; DGUOK
602440 AMYOTROPHY, MONOMELIC
602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
607635 CARBOXYPEPTIDASE A4; CPA4
608656 PROSTATE CANCER, HEREDITARY, 3
608658 PROSTATE CANCER, HEREDITARY, 4
609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE
609299 PROSTATE CANCER, HEREDITARY, 5
609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2

August 30, 2005

New Entries:

609524 FILAMINOPATHY, AUTOSOMAL DOMINANT
609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN
609557 PROLYLENDOPEPTIDASE-LIKE; PREPL
609559 CHROMOSOME 2 OPEN READING FRAME 34; C2ORF34

Changed Entries:

102565 FILAMIN C; FLNC
107741 APOLIPOPROTEIN E; APOE
109150 MACHADO-JOSEPH DISEASE; MJD
110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
112262 BONE MORPHOGENETIC PROTEIN 4; BMP4
117550 SOTOS SYNDROME
122470 CORNELIA DE LANGE SYNDROME; CDLS
125660 DESMIN; DES
133430 ESTROGEN RECEPTOR 1; ESR1
135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG
147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1
160777 MYOSIN VA; MYO5A
162200 NEUROFIBROMATOSIS, TYPE I; NF1
176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
179520 RAS-RELATED PROTEIN 1A; RAP1A
180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65
184850 STIFF-PERSON SYNDROME; SPS
186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
190440 TRIGONOCEPHALY, NONSYNDROMIC
191160 TUMOR NECROSIS FACTOR; TNF
194080 DENYS-DRASH SYNDROME
207410 ANTLEY-BIXLER SYNDROME; ABS
208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;
231670 GLUTARIC ACIDEMIA I
275600 REMOVED FROM DATABASE
516000 COMPLEX I, SUBUNIT ND1; MTND1
535000 LEBER OPTIC ATROPHY
556500 PARKINSON DISEASE, MITOCHONDRIAL
600142 CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE
600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF
601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A
601378 CRISPONI SYNDROME
601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
602991 NOGGIN, MOUSE, HOMOLOG OF; NOG
603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ
603770 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, BETA ISOFORM; PPM1B
604202 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29
605204 TORSIN-A; DYT1
605284 TSC1 GENE; TSC1
605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2
605808 BIRDSHOT CHORIORETINOPATHY
606047 IMMUNOGLOBULIN-LIKE TRANSCRIPT 11
606048 BREAST AND BLADDER CANCER OVEREXPRESSED GENE 1
606350 APRATAXIN; APTX
606407 HOMOZYGOUS 2p21 DELETION SYNDROME
606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX
607341 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT
608655 GAP JUNCTION PROTEIN, ALPHA-7; GJA7
608695 GLAUCOMA 1, OPEN ANGLE, J; GLC1J
608696 GLAUCOMA 1, OPEN ANGLE, K; GLC1K
608754 LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5
609299 PROSTATE CANCER, HEREDITARY, 3
609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA
609557 PROLYLENDOPEPTIDASE-LIKE; PREPL
609559 CHROMOSOME 2 OPEN READING FRAME 34; C2ORF34
Clinical Synopsis for 194080 DENYS-DRASH SYNDROME
Clinical Synopsis for 220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC
Clinical Synopsis for 275600 REMOVED FROM DATABASE

August 26, 2005

Changed Entries:

102300 RESTLESS LEGS SYNDROME 1
105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2
162200 NEUROFIBROMATOSIS, TYPE I; NF1
163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT
164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3
168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
176980 PROTEIN KINASE C, GAMMA; PRKCG
180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B
221770 PRESENILE DEMENTIA WITH BONE CYSTS
236792 L-2-HYDROXYGLUTARIC ACIDURIA
276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
300000 OPITZ SYNDROME
300161 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3
300552 MIDLINE 1; MID1
302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1
304040 GAP JUNCTION PROTEIN, BETA-1; GJB1
310400 MYOTUBULAR MYOPATHY 1; MTM1
601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11
602141 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8; NDUFS8
602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES
602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3
603848 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 6; NDUFS6
605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2
606904 EPILEPSY, JUVENILE MYOCLONIC; JME
607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I
608451 ETHE1 GENE; ETHE1

August 25, 2005

New Entries:

609552 LMAN2-LIKE PROTEIN; LMAN2L
609553 RETBINDIN
609554 INTEGRAL MEMBRANE PROTEIN 2C; ITM2C
609555 CARBOXYPEPTIDASE X, M14 FAMILY; CPXM
609556 ATPase, TYPE 13A4; ATP13A4

Changed Entries:

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
158320 MUIR-TORRE SYNDROME; MTS
160900 DYSTROPHIA MYOTONICA 1
163729 NITRIC OXIDE SYNTHASE 3; NOS3
176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2
177170 PSEUDOACHONDROPLASTIC DYSPLASIA
179835 REPLICATION PROTEIN A1, 70-KD; RPA1
217050 COMPLEMENT COMPONENT 6 DEFICIENCY
256000 LEIGH SYNDROME; LS
257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL RECESSIVE
264150 PSEUDOACHONDROPLASTIC DYSPLASIA II
601567 LECTIN, MANNOSE-BINDING, 1; LMAN1
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603554 OMENN SYNDROME
604872 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 7; PCSK7
606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B
609552 LMAN2-LIKE PROTEIN; LMAN2L
609554 INTEGRAL MEMBRANE PROTEIN 2C; ITM2C
Clinical Synopsis for 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1
Clinical Synopsis for 256000 LEIGH SYNDROME; LS

August 24, 2005

New Entries:

609547 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1
609548 LMAN1-LIKE PROTEIN; LMAN1L
609549 NANOPHTHALMOS 2; NNO2
609550 ZINC FINGER PROTEIN 330; ZNF330
609551 LECTIN, MANNOSE-BINDING, 2; LMAN2

Changed Entries:

107777 AQUAPORIN 2; AQP2
109650 BEHCET SYNDROME
112310 BOOMERANG DYSPLASIA
121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
131200 ENDOMETRIOSIS
153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
162200 NEUROFIBROMATOSIS, TYPE I; NF1
172800 PIEBALD TRAIT; PBT
174763 POLYMERASE, DNA, GAMMA; POLG
192340 ARGININE VASOPRESSIN; AVP
218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE
251450 DESBUQUOIS SYNDROME; DBQD
251600 MICROPHTHALMOS, AUTOSOMAL RECESSIVE
264150 PSEUDOACHONDROPLASTIC DYSPLASIA II
268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
600165 NANOPHTHALMOS 1; NNO1
602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG
602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2
602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
604256 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2
606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP
609547 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1
609549 NANOPHTHALMOS 2; NNO2

August 24, 2005

New Entries:

609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1
609539 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2
609540 WD REPEAT-CONTAINING PROTEIN 61; WDR61
609542 ATPase, CLASS I, TYPE 8A, MEMBER 1; ATP8A1
609543 BEYLA GENE
609544 CENTROSOMAL PROTEIN, 110-KD
609545 OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS
609546 UBIQUITIN-SPECIFIC PROTEASE 29; USP29

Changed Entries:

112500 BRACHYDACTYLY, TYPE A1; BDA1
117143 CENTROMERIC PROTEIN E; CENPE
118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD
125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
143100 HUNTINGTON DISEASE; HD
152424 LOCUS CONTROL REGION, BETA
152430 LONGEVITY
162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1
165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3
173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1
176797 ZINC FINGER PROTEIN 145; ZNF145
180250 RETINOL-BINDING PROTEIN 4; RBP4
187680 THIOPURINE S-METHYLTRANSFERASE; TPMT
190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1
192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1
223100 HYPOLACTASIA, ADULT TYPE
234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN
238300 GLYCINE DECARBOXYLASE; GLDC
264700 VITAMIN D-DEPENDENT RICKETS, TYPE I
277420 MOVED TO 277440
277440 VITAMIN D-DEPENDENT RICKETS, TYPE II
300052 DYSTROPHIN-RELATED PROTEIN 2; DRP2
300074 X CHROMOSOME-CONTROLLING ELEMENT
300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX
309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1
400013 BASIC PROTEIN ON Y CHROMOSOME, 2; BPY2
600081 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
600272 COILIN; COIL
600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR
601128 H3 HISTONE, FAMILY 3A; H3F3A
601509 GAMMA-GLUTAMYL HYDROLASE; GGH
601556 ATAXIN 1; ATXN1
601665 OBESITY
601667 ANGIOPOIETIN 1; ANGPT1
601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12
601769 VITAMIN D RECEPTOR; VDR
601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6
601922 ANGIOPOIETIN 2; ANGPT2
602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG
602407 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2
602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
603029 TOLL-LIKE RECEPTOR 3; TLR3
603202 LACTASE; LCT
603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1
603705 ANGIOPOIETIN 4; ANGPT4
604796 TASTE RECEPTOR, TYPE 2, MEMBER 1; TAS2R1
605061 TERF2-INTERACTING PROTEIN; TERF2IP
605725 PERIAXIN; PRX
605899 GLYCINE ENCEPHALOPATHY; GCE
606157 PANTOTHENATE KINASE 2; PANK2
606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1
606543 HISTONE DEACETYLASE 9; HDAC9
607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
607573 BPY2-INTERACTING PROTEIN 1; BPY2IP1
607645 D4S234E GENE; D4S234E
608713 CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1
608885 CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES,
609023 MYOFIBRILLOGENESIS REGULATOR 1
609192 LOEYS-DIETZ SYNDROME; LDS
609326 MICRO RNA 1
609511 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20
609543 BEYLA GENE

August 19, 2005

New Entries:

609538 PROTEIN-TYROSINE PHOSPHATASE, MITOCHONDRIAL, 1; PTPMT1

Changed Entries:

104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT
104300 ALZHEIMER DISEASE; AD
116806 CATENIN, BETA-1; CTNNB1
116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3
120090 COLLAGEN, TYPE IV, ALPHA-2; COL4A2
120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1
131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR
133020 ERYTHERMALGIA, PRIMARY
148900 KLIPPEL-FEIL SYNDROME
161200 NAIL-PATELLA SYNDROME; NPS
175780 PORENCEPHALY, FAMILIAL
176982 PROTEIN KINASE C, ZETA FORM; PRKCZ
180200 RETINOBLASTOMA; RB1
184400 SPRENGEL DEFORMITY
190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
200150 CHOREOACANTHOCYTOSIS; CHAC
207950 ARNOLD-CHIARI MALFORMATION
245570 LANDAU-KLEFFNER SYNDROME; LKS
301050 ALPORT SYNDROME, X-LINKED; ATS
602440 AMYOTROPHY, MONOMELIC
602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A
603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A
604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B
605978 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A; VPS13A
608434 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 1; GIT1
609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE

August 18, 2005

New Entries:

300551 MENTAL RETARDATION, X-LINKED 78; MRX78
609536 COMPLEMENT COMPONENT 5 DEFICIENCY
609537 LIPOMYELOMENINGOCELE

Changed Entries:

120353 MATRIX METALLOPROTEINASE 1; MMP1
120360 MATRIX METALLOPROTEINASE 2; MMP2
120900 COMPLEMENT COMPONENT 5; C5
124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6
155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1
176262 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER
182120 SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC
192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1
217300 CORNEA PLANA 2; CNA2
232200 GLYCOGEN STORAGE DISEASE I
300130 INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2
300401 PROTEOLIPID PROTEIN 1; PLP1
600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2
600349 INHIBITOR OF DNA BINDING 1; ID1
602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1
602061 EPIREGULIN; EREG
602689 FASCIN, SEA URCHIN, HOMOLOG OF, 1; FSCN1
604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;
605910 ANGIOPOIETIN-LIKE 4; ANGPTL4
608902 DRUG METABOLISM, POOR, CYP2D6-RELATED
Clinical Synopsis for 200150 CHOREOACANTHOCYTOSIS; CHAC
Clinical Synopsis for 602440 AMYOTROPHY, MONOMELIC

August 17, 2005

New Entries:

609535 DRUG METABOLISM, POOR, CYP2C19-RELATED

Changed Entries:

124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1
600725 SONIC HEDGEHOG; SHH
606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A
609535 DRUG METABOLISM, POOR, CYP2C19-RELATED
Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2

August 16, 2005

Changed Entries:

139320 GNAS COMPLEX LOCUS; GNAS
157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT
174763 POLYMERASE, DNA, GAMMA; POLG
181500 SCHIZOPHRENIA; SCZD
185880 VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; VAMP1
186590 SYNTAXIN 1A; STX1A
600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2
600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25
600725 SONIC HEDGEHOG; SHH
602322 TELOMERASE RNA COMPONENT; TERC
602516 REGULATOR OF G PROTEIN SIGNALING 4; RGS4
603743 APOLIPOPROTEIN L-I; APOL1
Clinical Synopsis for 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD
Clinical Synopsis for 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI
Clinical Synopsis for 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3
Clinical Synopsis for 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS

August 15, 2005

New Entries:

609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23
609534 CHROMOSOME 17 OPEN READING FRAME 41; C17ORF41

Changed Entries:

154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2
184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT
186975 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1; TCTE1
186977 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 3; TCTE3
271600 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE
601554 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE 1; TCTEL1
601884 BONE MINERAL DENSITY VARIATION 1; BMND1
601993 NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2
602533 ONCOGENE DJ1
602691 NUCLEAR RECEPTOR COACTIVATOR 1; NCOA1
603186 DEATH-ASSOCIATED PROTEIN 6; DAXX
603273 TUMOR PROTEIN p73-LIKE; TP73L
605514 PROTOCADHERIN 15; PCDH15
607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY
609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER
609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO
Clinical Synopsis for 209900 BARDET-BIEDL SYNDROME; BBS

August 12, 2005

New Entries:

609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA
609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO

Changed Entries:

104300 ALZHEIMER DISEASE; AD
115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
115198 MOVED TO 192600 AND 115197
123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB
146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4
160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
170280 PERFORIN 1; PRF1
180902 RYANODINE RECEPTOR 2; RYR2
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
600620 FK506-BINDING PROTEIN 1B; FKBP1B
600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE
600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
604202 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29
604311 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP
605121 RRN3, S. CEREVISIAE, HOMOLOG OF; RRN3
608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8
609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2
609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO

August 11, 2005

New Entries:

609525 TENSION-INDUCED/INHIBITED PROTEIN
Clinical Synopsis for 607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2

Changed Entries:

109750 BILIVERDIN REDUCTASE A; BLVRA
139320 GNAS COMPLEX LOCUS; GNAS
140581 HEAT-SHOCK TRANSCRIPTION FACTOR 2; HSF2
142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1
146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4
162010 NERVE GROWTH FACTOR RECEPTOR; NGFR
194190 WOLF-HIRSCHHORN SYNDROME; WHS
300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX
600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE
600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2
602458 SORTILIN; SORT1
602563 NK6, DROSOPHILA, HOMOLOG OF, 1; NKX6-1
603924 HYALURONAN-BINDING PROTEIN 2; HABP2
604323 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 3; ABCC3
604651 GROWTH/DIFFERENTIATION FACTOR 7; GDF7
605955 NK6, DROSOPHILA, HOMOLOG OF, 2; NKX6-2
607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2
609525 TENSION-INDUCED/INHIBITED PROTEIN
Clinical Synopsis for 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI
Clinical Synopsis for 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
Clinical Synopsis for 191520 UPINGTON DISEASE
Clinical Synopsis for 202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1
Clinical Synopsis for 234580 HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS

August 10, 2005

Changed Entries:

100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2
103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2
103730 ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH3
103780 ALCOHOLISM
118910 CHROMOGRANIN A; CHGA
134920 FIBROBLAST GROWTH FACTOR 2; FGF2
143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
147680 INTERLEUKIN 2; IL2
153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1
190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
194050 WILLIAMS-BEUREN SYNDROME; WBS
256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
300401 PROTEOLIPID PROTEIN 1; PLP1
600726 INDIAN HEDGEHOG; IHH
602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603718 CLAUDIN 1; CLDN1
604580 FIBULIN 5; FBLN5
604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;
607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12
608548 HEMICENTIN; HMCN1
608731 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6

August 9, 2005

New Entries:

300552 MIDLINE 1; MID1
609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2
609527 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; RAPGEF5
609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2
609530 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RAPGEF2
609531 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 3; RASGRP3

Changed Entries:

133540 COCKAYNE SYNDROME, TYPE B; CSB
137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1
155541 MELANOCORTIN 4 RECEPTOR; MC4R
178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD
182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A
188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO
216400 COCKAYNE SYNDROME, TYPE A; CSA
240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID
270200 SJOGREN-LARSSON SYNDROME; SLS
300000 OPITZ SYNDROME
300204 MIDLINE 2
300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,
309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS
601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2
601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL
604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3
604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B
606057 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; RAPGEF3
606382 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING,
606995 SENIOR-LOKEN SYNDROME 3; SLSN3
607320 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 4; RASGRP4
608810 ALPHA-B CRYSTALLINOPATHY
609200 MYOTILINOPATHY
609317 TRIPARTITE MOTIF-CONTAINING PROTEIN 36; TRIM36
609412 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8
609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2
609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2
Clinical Synopsis for 194070 WILMS TUMOR 1; WT1

August 8, 2005

New Entries:

609500 MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
609515 IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES
609522 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3B; TCEB3B

Changed Entries:

207800 ARGININEMIA
300257 DANON DISEASE
309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2
309660 MOVED TO 300257
310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX
600786 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3; TCEB3
600787 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 2; TCEB2
600788 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 1; TCEB1
601529 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 1; NR2C1
602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7
603125 TYROSYLPROTEIN SULFOTRANSFERASE 1; TPST1
603406 TRIPARTITE MOTIF-CONTAINING PROTEIN 24; TRIM24
603758 GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1
603853 PAN-HEMATOPOIETIC EXPRESSION GENE; PHEMX
605566 RETICULON 4 RECEPTOR; RTN4R
607478 TRYPTOPHAN HYDROXYLASE 2; TPH2
608313 ARGINASE, LIVER; ARG1
609522 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3B; TCEB3B

August 5, 2005

New Entries:

609517 TGFB1-INDUCED ANTIAPOPTOTIC FACTOR 1; TIAF1
609518 THAP DOMAIN-CONTAINING PROTEIN 7; THAP7
609519 TCF3 FUSION PARTNER; TFPT
609520 THAP DOMAIN-CONTAINING PROTEIN 1; THAP1
609521 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 1; SLC30A1

Changed Entries:

106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
107777 AQUAPORIN 2; AQP2
109730 BICUSPID AORTIC VALVE
114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C
114206 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D
120000 COARCTATION OF AORTA
122600 COSTOVERTEBRAL SEGMENTATION ANOMALIES
125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
129400 RAPP-HODGKIN SYNDROME; RHS
137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2
142984 HOMEOBOX D10; HOXD10
142986 HOMEOBOX D11; HOXD11
147141 TRANSCRIPTION FACTOR 3; TCF3
175200 PEUTZ-JEGHERS SYNDROME; PJS
191170 TUMOR PROTEIN p53; TP53
222000 MOVED TO 125800
241550 HYPOPLASTIC LEFT HEART SYNDROME
277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1
308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG
601005 TIMOTHY SYNDROME; TS
601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2
601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1
601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK
601936 PRKC, APOPTOSIS, WT1, REGULATOR; PAWR
601991 NEUROONCOLOGIC VENTRAL ANTIGEN 2; NOVA2
602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4
602098 POLO-LIKE KINASE 1; PLK1
602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1
602216 SERINE/THREONINE PROTEIN KINASE 11; STK11
602768 DELTA-LIKE 3; DLL3
603273 TUMOR PROTEIN p73-LIKE; TP73L
604648 T-BOX 10; TBX10
604889 NEUROBEACHIN; NBEA
605031 POLO-LIKE KINASE 4; PLK4
606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1
607023 POLO-LIKE KINASE 2; PLK2
607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5
608516 MAJOR DEPRESSIVE DISORDER; MDD
608977 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 19; DNAJC19

August 4, 2005

New Entries:

609514 TAUBE NUSS, MOUSE, HOMOLOG OF; TBN
609516 ZINC FINGER PROTEIN 382; ZNF382

Changed Entries:

106165 ANGIOTENSIN RECEPTOR 1; AGTR1
113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF
113705 BREAST CANCER 1 GENE; BRCA1
116880 CATHEPSIN L; CTSL
118507 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2
123811 ACTIVATING TRANSCRIPTION FACTOR 2; ATF2
156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF
173325 JUNCTION PLAKOGLOBIN; JUP
178500 PULMONARY FIBROSIS, IDIOPATHIC
185250 MATRIX METALLOPROTEINASE 3; MMP3
192090 CADHERIN 1; CDH1
300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
300247 BONE MORPHOGENETIC PROTEIN 15; BMP15
300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2
300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
311010 V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1; ARAF1
600014 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,
600167 HISTAMINE RECEPTOR H1; HRH1
600527 EPHRIN B2; EFNB2
600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1
601047 CAVEOLIN 1; CAV1
601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK
602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1
602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10
603310 PHOSPHODIESTERASE 5A; PDE5A
603497 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 3; DYRK3
604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13
604475 RETICULON 4; RTN4
604984 SERINE/THREONINE PROTEIN KINASE 24; STK24
605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1
606820 GLUTAREDOXIN 2; GLRX2
607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9
608010 NPC1-LIKE 1; NPC1L1
609487 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 2; MAP3K2

August 3, 2005

New Entries:

300538 ARGININE VASOPRESSIN RECEPTOR 2; AVPR2
300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD
609512 CHROMATIN-MODIFYING PROTEIN 2B; CHMP2B
609513 NEUROPEPTIDE S

Changed Entries:

102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1
102981 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1
114550 HEPATOCELLULAR CARCINOMA
114610 CANNABINOID RECEPTOR 1; CNR1
120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1
120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1
121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
130650 BECKWITH-WIEDEMANN SYNDROME; BWS
131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR
134371 COMPLEMENT FACTOR H-RELATED 1; CFHL1
139250 GROWTH HORMONE 1; GH1
141900 HEMOGLOBIN--BETA LOCUS; HBB
145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1
146800 ICHTHYOSIS, BULLOUS TYPE
147670 INSULIN RECEPTOR; INSR
147680 INTERLEUKIN 2; IL2
147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA
148080 KERATIN 10; KRT10
150310 LAMININ, BETA-3; LAMB3
159970 MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1
159990 MYOGENIC FACTOR 5; MYF5
162200 NEUROFIBROMATOSIS, TYPE I; NF1
166710 OSTEOPOROSIS, INVOLUTIONAL
176640 PRION PROTEIN; PRNP
176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11
176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
191170 TUMOR PROTEIN p53; TP53
202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY
219080 CUSHING DISEASE, ADRENAL
235400 HEMOLYTIC-UREMIC SYNDROME; HUS
261600 PHENYLKETONURIA
271980 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1
300013 N-ACETYLTRANSFERASE ARD1, S. CEREVISIAE, HOMOLOG OF; DXS707
300019 HOST CELL FACTOR C1; HCFC1
300023 GTPase-ACTIVATING PROTEIN, RHO, 4; ARHGAP4
300029 RETINITIS PIGMENTOSA 15; RP15
300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5
300392 WAS GENE; WAS
300417 G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN
300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB
300490 SH2 DOMAIN PROTEIN 1A; SH2D1A
304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
309900 MUCOPOLYSACCHARIDOSIS TYPE II
311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA
312420 RENIN-BINDING PROTEIN; RENBP
516006 COMPLEX I, SUBUNIT ND6; MTND6
590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1
600052 ANGIOTENSIN RECEPTOR-LIKE 1; AGTRL1
600112 DYNEIN, CYTOPLASMIC, HEAVY CHAIN 1; DNCH1
600264 ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B
600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3
600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1
600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3
600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A
600889 COMPLEMENT FACTOR H-RELATED 2; CFHL2
600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4
601090 FORKHEAD BOX C1; FOXC1
601253 CAVEOLIN 3; CAV3
601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1
601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1
602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA
602153 KERATIN, HAIR, BASIC, 1; KRTHB1
602809 KINESIN FAMILY MEMBER 5B; KIF5B
603068 DUAL-SPECIFICITY PHOSPHATASE 2; DUSP2
603273 TUMOR PROTEIN p73-LIKE; TP73L
603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4
603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF
603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1
605336 COMPLEMENT FACTOR H-RELATED 3; CFHL3
605337 COMPLEMENT FACTOR H-RELATED 4; CFHL4
605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2
605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4
605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3
606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24
606702 PKHD1 GENE; PKHD1
607102 WILMS TUMOR 1 GENE; WT1
607474 HOMOGENTISATE 1,2-DIOXYGENASE; HGD
607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1
608002 NEPHROCYSTIN 3; NPHP3
608464 VG5Q GENE
608593 COMPLEMENT FACTOR H-RELATED 5; CFHL5
608595 G PROTEIN-COUPLED RECEPTOR 154; GPR154
609019 BIOTINIDASE; BTD
609485 MODULATOR OF APOPTOSIS 1; MOAP1
609511 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20

August 2, 2005

New Entries:

609511 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20

Changed Entries:

103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO
106165 ANGIOTENSIN RECEPTOR 1; AGTR1
106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A
116880 CATHEPSIN L; CTSL
116947 CELL DIVISION CYCLE 25A; CDC25A
118485 CYTOCHROME P450, SUBFAMILY XIA; CYP11A
120920 MEMBRANE COFACTOR PROTEIN; MCP
131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1
137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG
138297 GLUTAMYL AMINOPEPTIDASE; ENPEP
155550 SILVER, MOUSE, HOMOLOG OF; SILV
231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
270960 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS
308220 IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE
308400 REMOVED FROM DATABASE
510000 REMOVED FROM DATABASE
590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH
600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST
600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,
601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
604271 SHORT STATURE; SS
605888 EH DOMAIN-CONTAINING 1; EHD1
606165 BOL-LIKE; BOLL
608096 EPILEPSY, FAMILIAL TEMPORAL LOBE
608516 MAJOR DEPRESSIVE DISORDER; MDD
608593 COMPLEMENT FACTOR H-RELATED 5; CFHL5
608863 PODOPLANIN; PDPN
609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
609510 INTERLEUKIN 31 RECEPTOR A; IL31RA
Clinical Synopsis for 510000 REMOVED FROM DATABASE

August 1, 2005

New Entries:

609510 INTERLEUKIN 31 RECEPTOR A; IL31RA

Changed Entries:

103180 ADP-RIBOSYLATION FACTOR 1; ARF1
106100 ANGIOEDEMA, HEREDITARY; HAE
116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
133430 ESTROGEN RECEPTOR 1; ESR1
136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR
138040 GLUCOCORTICOID RECEPTOR; GCCR
145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
168820 PARAOXONASE 1; PON1
180901 RYANODINE RECEPTOR 1; RYR1
188450 THYROGLOBULIN; TG
232400 GLYCOGEN STORAGE DISEASE III
234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN
255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
300377 DYSTROPHIN; DMD
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2
600438 TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM
600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE
601663 ESTROGEN RECEPTOR 2; ESR2
601743 ONCOSTATIN M RECEPTOR; OSMR
601924 COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA
602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2
607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
607637 EMX2 OPPOSITE STRAND; EMX2OS
607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
609509 INTERLEUKIN 31; IL31
Mini-MIM for 106100 ANGIOEDEMA, HEREDITARY; HAE
Mini-MIM for 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
Mini-MIM for 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
Mini-MIM for 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
Clinical Synopsis for 232300 GLYCOGEN STORAGE DISEASE II
Clinical Synopsis for 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
Clinical Synopsis for 607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C

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