PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for November, 2002

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November 27, 2002

New Entries:

607382 CYTOPLASMIC LINKER PROTEIN 170-RELATED PROTEIN, 59-KD
607384 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 9, YEAST, HOMOLOG OF;
607388 FRACTURE CALLUS 1, RAT, HOMOLOG OF; FXC1
607393 HYPERPARATHYROIDISM 2 GENE; HRPT2
607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3
607395 STREPTOCOCCUS, GROUP A, SEVERITY OF INFECTION BY

Changed Entries:

102300 ACROMELALGIA, HEREDITARY
120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2
121360 CORE-BINDING FACTOR, BETA SUBUNIT; CBFB
141900 HEMOGLOBIN--BETA LOCUS; HBB
142000 HEMOGLOBIN--DELTA LOCUS; HBD
142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1
145000 HYPERPARATHYROIDISM 1; HRPT1
145001 HYPERPARATHYROIDISM 2; HRPT2
147625 ISLET CELL AUTOANTIGEN 1; ICA1
185300 STURGE-WEBER SYNDROME
191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV
270150 SJOGREN SYNDROME
276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS
305600 FOCAL DERMAL HYPOPLASIA; DHOF
313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
601172 CHONDROITIN SULFATE PROTEOGLYCAN 4; CSPG4
602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1
602251 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10, YEAST, HOMOLOG OF;
603593 SOLUTE CARRIER FAMILY 7, MEMBER 7; SLC7A7
604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1
605828 EPIDERMODYSPLASIA VERRUCIFORMIS GENE 1; EVER1
605829 EPIDERMODYSPLASIA VERRUCIFORMIS GENE 2; EVER2
606659 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,
607384 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 9, YEAST, HOMOLOG OF;
607388 FRACTURE CALLUS 1, RAT, HOMOLOG OF; FXC1

November 26, 2002

New Entries:

607385 UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,3-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE
607386 SELECTIVE LIM-BINDING FACTOR, RAT, HOMOLOG OF
607387 DYNACTIN 3; DCTN3
607392 TRANSCRIPTIONAL COACTIVATOR WITH PDZ-BINDING MOTIF
Clinical Synopsis for 606721 LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION
Clinical Synopsis for 606798 BLEPHAROSPASM, BENIGN ESSENTIAL
Clinical Synopsis for 606840 FACIOMANDIBULAR MYOCLONUS, NOCTURNAL
Clinical Synopsis for 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

Changed Entries:

107400 PROTEASE INHIBITOR 1; PI
113300 BRACHYDACTYLY, TYPE E; BDE
113705 BREAST CANCER, TYPE 1; BRCA1
126453 DOPAMINE RECEPTOR D5; DRD5
137800 GLIOMA OF BRAIN, FAMILIAL
158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
164160 LEPTIN; LEP
164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI
176300 TRANSTHYRETIN; TTR
180901 RYANODINE RECEPTOR 1; RYR1
182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A
314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST
600439 SINGLE-STRANDED DNA-BINDING PROTEIN; SSBP
600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; MADH4
602812 H3 HISTONE FAMILY, MEMBER C; H3FC
602824 H4 HISTONE FAMILY, MEMBER C; H4FC
603207 VTI1, S. CEREVISIAE, HOMOLOG OF, B; VTI1B
604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+
605196 METHYLTRANSFERASE COQ3; COQ3
605221 FUS-INTERACTING PROTEIN 1; FUSIP1
606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2
606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2
Clinical Synopsis for 606840 FACIOMANDIBULAR MYOCLONUS, NOCTURNAL

November 25, 2002

New Entries:

607380 MICROTUBULE-INTERACTING PROTEIN ASSOCIATED WITH TRAF3
607381 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 50, YEAST, HOMOLOG OF

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
112500 BRACHYDACTYLY, TYPE A1; BDA1
113705 BREAST CANCER, TYPE 1; BRCA1
115442 CASEIN KINASE II, ALPHA-2; CSNK2A2
147520 INOSINE TRIPHOSPHATASE; ITPA
172420 PHOSPHOLIPASE C, GAMMA-1; PLCG1
180860 SILVER-RUSSELL SYNDROME; SRS
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
216550 COHEN SYNDROME; COH1
253300 SPINAL MUSCULAR ATROPHY I; SMA1
300392 WAS GENE; WAS
600220 PHOSPHOLIPASE C, GAMMA-2; PLCG2
600726 INDIAN HEDGEHOG; IHH
600863 CASEIN KINASE I, EPSILON; CSNK1E
601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8
601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1
602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1
603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2
603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC
605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL
605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1
605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

November 22, 2002

New Entries:

607376 DYNACTIN 2; DCTN2
607377 LENS EPITHELIAL PROTEIN; LENEP
607378 PAI1 RNA-BINDING PROTEIN 1

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2
105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE
115150 CARDIOFACIOCUTANEOUS SYNDROME
115430 CARPAL TUNNEL SYNDROME; CTS1
121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8
123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9
142986 HOMEO BOX D11; HOXD11
146770 IMMUNOGLOBULIN LAMBDA-LIKE POLYPEPTIDE 1; IGLL1
147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1
157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT
162151 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 2; PCSK2
162200 NEUROFIBROMATOSIS, TYPE I; NF1
162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
164761 RET PROTOONCOGENE; RET
170100 PEPTIDASE D; PEPD
175200 PEUTZ-JEGHERS SYNDROME; PJS
176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11
180860 SILVER-RUSSELL SYNDROME; SRS
184430 SRY-BOX 4; SOX4
187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1
188350 THYMIDYLATE SYNTHETASE; TYMS
190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2
194190 WOLF-HIRSCHHORN SYNDROME; WHS
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
207900 ARGININOSUCCINICACIDURIA
219700 CYSTIC FIBROSIS; CF
223360 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH
300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),
301500 FABRY DISEASE
516000 COMPLEX I, SUBUNIT ND1; MTND1
516001 COMPLEX I, SUBUNIT ND2; MTND2
600202 DYSLEXIA, SPECIFIC, 2; DYX2
601021 NUCLEOPORIN, 98-KD; NUP98
601143 DYNACTIN 1; DCTN1
601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601965 ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3
602513 REGULATOR OF G PROTEIN SIGNALING 14; RGS14
602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1
603108 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 1; MAPRE1
603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
603382 MutS, E. COLI, HOMOLOG OF, 5; MSH5
603504 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A; CDC14A
603505 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG B; CDC14B
603576 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1;
605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2
605419 SCHIZOPHRENIA 10; SCZD10
606272 CYSTINOSIN; CTNS
606721 LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION
606798 BLEPHAROSPASM, BENIGN ESSENTIAL
606840 FACIOMANDIBULAR MYOCLONUS, NOCTURNAL
606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
606851 CREE MENTAL RETARDATION SYNDROME
606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
606926 G PROTEIN-COUPLED RECEPTOR 92; GPR92
607169 PROTEASE, SERINE, 16; PRSS16
607178 MEMBRANE-ASSOCIATED PROTEIN 17
607194 PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT

November 21, 2002

New Entries:

607375 DOT1, YEAST, HOMOLOG OF

Changed Entries:

103780 ALCOHOLISM
116790 CATECHOL-O-METHYLTRANSFERASE; COMT
125480 MAJOR AFFECTIVE DISORDER 1; MAFD1
135150 BIRT-HOGG-DUBE SYNDROME; BHD
153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF
159460 MYELIN-ASSOCIATED GLYCOPROTEIN; MAG
162010 NERVE GROWTH FACTOR RECEPTOR; NGFR
162640 NEUROPEPTIDE Y; NPY
176805 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1; PTGS1
179095 UBIQUITIN-CONJUGATING ENZYME E2B; UBE2B
181500 SCHIZOPHRENIA; SCZD
182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),
266500 REFSUM DISEASE
312180 UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A
600039 BCL2-LIKE 1; BCL2L1
601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7
601761 CASPASE 7, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP7
601802 HOMEO BOX GENE EXPRESSED IN ES CELLS; HESX1
602143 TUMOR PROTEIN p53-BINDING PROTEIN 2; TP53BP2
602871 PERIPLAKIN; PPL
603596 POLYDACTYLY
603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10
603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR
605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18
605735 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
606937 CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN
607266 RAD5, YEAST, HOMOLOG OF
607313 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS

November 20, 2002

New Entries:

607369 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 16; KCNK16
607370 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 17; KCNK17
607371 DYSTONIA, JUVENILE-ONSET
607372 PC2 GLUTAMINE/Q-RICH-ASSOCIATED PROTEIN; PCQAP
607373 AUTISM, SUSCEPTIBILITY TO, 3
607374 PRKR INHIBITOR, REPRESSOR OF; PRKRIR

Changed Entries:

123829 CYCLIN-DEPENDENT KINASE 4; CDK4
126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
135300 FIBROMATOSIS, GINGIVAL, 1; GINGF
176871 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;
191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1
209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1
600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE
600894 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3
601122 5-@HYDROXYTRYPTAMINE RECEPTOR 2B; HTR2B
601128 H3 HISTONE, FAMILY 3A; H3F3A
601184 DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 3; DNAJC3
602286 STEROL C5-DESATURASE-LIKE; SC5DL
603220 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 3; KCNK3
603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5
603954 ZESTE-WHITE 10, DROSOPHILA, HOMOLOG OF; ZW10
604478 CHROMOBOX HOMOLOG 5; CBX5
604515 B-CELL LINKER PROTEIN; BLNK
604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1
605544 FIBROMATOSIS, GINGIVAL, 2; GINGF2
605566 RETICULON 4 RECEPTOR; RTN4R
605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9
606228 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1
606241 DICER, DROSOPHILA, HOMOLOG OF
606252 MYD88 ADAPTOR-LIKE
606273 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3
606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2
607270 AUTISM SUSCEPTIBILITY GENE 2; AUTS2
607331 RETINITIS PIGMENTOSA 9 GENE; RP9
607335 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 1; VMD2L1
607336 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 2; VMD2L2
607337 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 3; VMD2L3
607363 KINETOCHORE-ASSOCIATED PROTEIN 1; KNTC1
607371 DYSTONIA, JUVENILE-ONSET
607372 PC2 GLUTAMINE/Q-RICH-ASSOCIATED PROTEIN; PCQAP
607373 AUTISM, SUSCEPTIBILITY TO, 3

November 19, 2002

New Entries:

607358 AUTOIMMUNE REGULATOR; AIRE
607360 LACRITIN; LACRT
607361 MECKEL SYNDROME, TYPE 3; MKS3
607362 REPULSIVE GUIDANCE MOLECULE
607363 KINETOCHORE-ASSOCIATED PROTEIN 1; KNTC1
607365 LIPASE H; LIPH
607366 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 12; KCNK12
607367 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 13; KCNK13
607368 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 15; KCNK15

Changed Entries:

103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2
107720 APOLIPOPROTEIN C-III; APOC3
111680 RHESUS BLOOD GROUP, D ANTIGEN; RHD
116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A
116952 CELL DIVISION CYCLE 42; CDC42
124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D
134370 H FACTOR 1; HF1
136538 FORMYL PEPTIDE RECEPTOR-LIKE 1; FPRL1
138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1
138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;
139605 'HAIRY,' DROSOPHILA, HOMOLOG OF; HRY
142410 TRANSCRIPTION FACTOR 1; TCF1
143890 HYPERCHOLESTEROLEMIA, FAMILIAL
147940 ISLET AMYLOID POLYPEPTIDE; IAPP
150330 LAMIN A/C; LMNA
151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL
152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB
163730 NITRIC OXIDE SYNTHASE 2A; NOS2A
164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1
165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3
165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA
176930 COAGULATION FACTOR II; F2
188040 THROMBOMODULIN; THBD
190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
191170 TUMOR PROTEIN p53; TP53
209901 BBS1 GENE; BBS1
227660 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1
240200 HYPOADRENOCORTICISM, FAMILIAL
240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
249000 MECKEL SYNDROME, TYPE 1; MKS1
269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME
269200 SCHMIDT SYNDROME
306700 HEMOPHILIA A
400003 DELETED IN AZOOSPERMIA; DAZ
600024 LAMIN B RECEPTOR; LBR
600185 BREAST CANCER 2, EARLY-ONSET; BRCA2
600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2
600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),
600725 SONIC HEDGEHOG; SHH
600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B
601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1
601053 PLEXIN B1; PLXNB1
601866 SEMAPHORIN 4D; SEMA4D
602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1
602408 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
602724 PEANUT-LIKE 1; PNUTL1
602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4
603134 CULLIN 1; CUL1
603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8;
603194 MECKEL SYNDROME, TYPE 2; MKS2
603293 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3; BNIP3
603368 CYCLIN-DEPENDENT KINASE 6; CDK6
603516 SPINOCEREBELLAR ATAXIA 10; SCA10
603954 ZESTE-WHITE 10, DROSOPHILA, HOMOLOG OF; ZW10
604479 SIRTUIN 1; SIRT1
604480 SIRTUIN 2; SIRT2
604481 SIRTUIN 3; SIRT3
604482 SIRTUIN 4; SIRT4
604483 SIRTUIN 5; SIRT5
604850 COP9, SUBUNIT 5; COPS5
606211 SIRTUIN 6; SIRT6
606212 SIRTUIN 7; SIRT7
606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP
606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24
606989 MYELOPEROXIDASE; MPO
607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU
607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA
607174 MENINGIOMA, FAMILIAL
607276 RESTING HEART RATE
607296 ATPASE, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 1;
607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3
607361 MECKEL SYNDROME, TYPE 3; MKS3
Clinical Synopsis for 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

November 18, 2002

New Entries:

607359 DELETED IN BREAST CANCER 1

Changed Entries:

114180 CALMODULIN 1; CALM1
114182 CALMODULIN 2; CALM2
114183 CALMODULIN 3; CALM3
120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1
126451 DOPAMINE RECEPTOR D3; DRD3
143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1
147570 INTERFERON, GAMMA; IFNG
151690 ANNEXIN A1; ANXA1
158350 COWDEN DISEASE; CD
164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS
164761 RET PROTOONCOGENE; RET
176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
180860 RUSSELL-SILVER SYNDROME; RSS
181500 SCHIZOPHRENIA; SCZD
192430 VELOCARDIOFACIAL SYNDROME
201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ
231530 GLUCAGON DEFICIENCY, HYPOGLYCEMIA DUE TO
241200 HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA
253270 MULTIPLE CARBOXYLASE DEFICIENCY; MCD
268220 RHABDOMYOSARCOMA 2; RMS2
600308 AQUAPORIN 4; AQP4
601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A
601548 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1
601617 RETINOL DEHYDROGENASE 5; RDH5
601678 BARTTER SYNDROME, ANTENATAL HYPERCALCIURIC FORM
601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI
602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1
604167 CCCTC-BINDING FACTOR; CTCF
604271 SHORT STATURE; SS
605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1
605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2
607022 CCCTC-BINDING FACTOR-LIKE PROTEIN; CTCFL
607357 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 5; KCNQ5

November 15, 2002

New Entries:

607342 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN
607355 ARGONAUTE 3
607356 ARGONAUTE 4
607357 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 5; KCNQ5
Clinical Synopsis for 605419 SCHIZOPHRENIA 10; SCZD10
Clinical Synopsis for 607346 SPINOCEREBELLAR ATAXIA 19; SCA19

Changed Entries:

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1
134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA
165720 OSTEOARTHRITIS
182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A
208550 ASTHMA, NASAL POLYPS, ASPIRIN INTOLERANCE
270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
300266 SPASTIC PARAPLEGIA 16, X-LINKED, COMPLICATED; SPG16
300401 PROTEOLIPID PROTEIN 1; PLP1
303350 MASA SYNDROME
307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS
308840 L1 CELL ADHESION MOLECULE; L1CAM
309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1
312080 PELIZAEUS-MERZBACHER DISEASE; PMD
312890 MOVED TO 312920
312900 MOVED TO 303350
312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2
400024 AZOOSPERMIA FACTOR C
415000 AZOOSPERMIA FACTOR 1; AZF1
601693 UNCOUPLING PROTEIN 2; UCP2
602044 UNCOUPLING PROTEIN 3; UCP3
602704 MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4
603298 PALMITOYL-PROTEIN THIOESTERASE 2; PPT2
605229 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14
606228 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1
606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2
607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
607346 SPINOCEREBELLAR ATAXIA 19; SCA19
Clinical Synopsis for 154700 MARFAN SYNDROME; MFS
Clinical Synopsis for 177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES
Clinical Synopsis for 312890 MOVED TO 312920

November 14, 2002

New Entries:

607343 SAL-LIKE 4; SALL4
607346 SPINOCEREBELLAR ATAXIA 19; SCA19
607347 LYMPHOCYTE ALPHA KINASE
607348 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 5
607349 TALIN 2; TLN2
607350 KINESIN FAMILY MEMBER 13B; KIF13B
607351 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 1; RHOBTB1
607352 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 2; RHOBTB2
607353 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 3; RHOBTB3
607354 SCOLIOSIS, IDIOPATHIC 2
Clinical Synopsis for 607323 OKIHIRO SYNDROME

Changed Entries:

102530 GLOBOZOOSPERMIA
104311 PRESENILIN 1; PSEN1
137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
162010 NERVE GROWTH FACTOR RECEPTOR; NGFR
164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,
164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1
170390 PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES
180380 RHODOPSIN; RHO
181800 SCOLIOSIS, IDIOPATHIC
186745 TALIN 1; TLN1
191092 TUBEROUS SCLEROSIS 2 GENE; TSC2
212750 CELIAC DISEASE; CD
600075 TATA BOX-BINDING PROTEIN; TBP
600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1
600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2
600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A
601255 AXONAL TRANSPORTER OF SYNAPTIC VESICLES; ATSV
601481 MYOSIN X; MYO10
601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2
602544 PARKIN; PARK2
602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7
602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB
604018 NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL
604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50
604256 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2
604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11
604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2
604495 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,
604548 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,
604824 KLOTHO; KL
605284 TUBEROUS SCLEROSIS 1 GENE; TSC1
605566 RETICULON 4 RECEPTOR; RTN4R
605984 EMBRYONIC ECTODERM DEVELOPMENT PROTEIN, MOUSE, HOMOLOG OF; EED
606102 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C
606200 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 3; BHLHB3
606245 JJAZ1 GENE
606845 PDZ PROTEIN INTERACTING SPECIFICALLY WITH TC10
607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2
607323 OKIHIRO SYNDROME
607354 SCOLIOSIS, IDIOPATHIC 2

November 13, 2002

New Entries:

607344 TUBULIN, DELTA-1
607345 TUBULIN, EPSILON

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2
106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
114021 CADHERIN 3; CDH3
118700 CHOREA, HEREDITARY BENIGN; BCH
120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2
120550 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE; C1QA
121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1
124900 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1
142988 HOMEO BOX D12; HOXD12
142989 HOMEO BOX D13; HOXD13
162010 NERVE GROWTH FACTOR RECEPTOR; NGFR
162660 NEUROTROPHIN 3; NTF3
176000 PORPHYRIA, ACUTE INTERMITTENT
179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51
183086 SPINOCEREBELLAR ATAXIA 6; SCA6
183090 SPINOCEREBELLAR ATAXIA 2; SCA2
191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3
208920 ATAXIA-OCULOMOTOR APRAXIA SYNDROME
219700 CYSTIC FIBROSIS; CF
254090 MUSCULAR DYSTROPHY, SCLEROATONIC
300017 FILAMIN A; FLNA
300049 HETEROTOPIA, PERIVENTRICULAR
300338 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-2; CNGA2
516006 COMPLEX I, SUBUNIT ND6; MTND6
561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1
600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ
600140 CREB-BINDING PROTEIN; CREBBP
600185 BREAST CANCER 2, EARLY-ONSET; BRCA2
600386 INHIBITOR OF DNA BINDING 2; ID2
600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1
600849 NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1
600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6
601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN
601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
602492 PENTRAXIN 3; PTX3
602544 PARKIN; PARK2
602627 CELL DIVISION CYCLE 18, S. POMBE, HOMOLOG-LIKE; CDC18L
602700 E1A-BINDING PROTEIN, 300-KD; EP300
603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC
603680 SPINOCEREBELLAR ATAXIA 8; SCA8
603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11
604326 SPINOCEREBELLAR ATAXIA 12; SCA12
604754 ZINC FINGER PROTEIN 271; ZNF271
605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3
605378 ALADIN; AAAS
605382 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL
605424 MASTERMIND-LIKE 1; MAML1
606201 WOLFRAM SYNDROME GENE 1; WFS1
606350 APRATAXIN; APTX
606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A
606901 MOVED TO 604754
606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

November 12, 2002

New Entries:

607341 FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE; FCDBC
Clinical Synopsis for 604929 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3
Clinical Synopsis for 605021 MYOCLONIC EPILEPSY, INFANTILE
Clinical Synopsis for 605055 ALZHEIMER DISEASE, EARLY-ONSET FAMILIAL, WITH COEXISTING AMYLOID AND
Clinical Synopsis for 605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE
Clinical Synopsis for 605309 MACROCEPHALY/AUTISM SYNDROME
Clinical Synopsis for 605382 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL
Clinical Synopsis for 605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4
Clinical Synopsis for 605726 NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE
Clinical Synopsis for 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
Clinical Synopsis for 606070 MYOPATHY, DISTAL 2; MPD2

Changed Entries:

114184 CALMODULIN-LIKE 3; CALML3
115150 CARDIOFACIOCUTANEOUS SYNDROME
115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A
134797 FIBRILLIN 1; FBN1
142445 NEUREGULIN 1; NRG1
148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC
160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
162200 NEUROFIBROMATOSIS, TYPE I; NF1
168461 CYCLIN D1; CCND1
180901 RYANODINE RECEPTOR 1; RYR1
188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A
191170 TUMOR PROTEIN p53; TP53
243605 JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES
300037 GLYPICAN 3; GPC3
300334 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 5;
600133 LAMININ, ALPHA-4; LAMA4
600945 UROCORTIN; UCN
602215 DEFENSIN, BETA, 2; DEFB2
602216 SERINE/THREONINE PROTEIN KINASE 11; STK11
602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;
602945 TRANSCRIPTIONAL ADAPTOR 3-LIKE
603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5
604098 SUPPRESSOR OF G2 ALLELE OF SKP1, S. CEREVISIAE, HOMOLOG OF; SUGT1
604530 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 1; NCR1
604531 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 2; NCR2
604774 ANGIOPOIETIN-LIKE 3; ANGPTL3
604929 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3
605147 CHONDROMODULIN I
605284 TUBEROUS SCLEROSIS 1 GENE; TSC1
605309 MACROCEPHALY/AUTISM SYNDROME
605382 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL
605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;
606273 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3
606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2
606686 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1; EIF2B1
606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4
606904 MYOCLONIC EPILEPSY, JUVENILE; JME
607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
607115 CINCA SYNDROME; CINCA
607167 DYNEIN, CYTOPLASMIC, LIGHT CHAIN 2A; DNCL2A

November 11, 2002

New Entries:

607300 PRECURSOR mRNA-PROCESSING FACTOR 8, S. CEREVISIAE, HOMOLOG OF; PRPF8
607301 RNA SPLICING FACTOR, U4/U6-ASSOCIATED
607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1
607340 G PROTEIN-COUPLED RECEPTOR 51; GPR51

Changed Entries:

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM
176270 PRADER-WILLI SYNDROME; PWS
189974 TRANSDUCIN, BETA POLYPEPTIDE
242650 PRIMARY CILIARY DYSKINESIA; PCD
244400 KARTAGENER SYNDROME
270100 SITUS INVERSUS VISCERUM
309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE
309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1
313700 ANDROGEN RECEPTOR; AR
600004 EPHRIN RECEPTOR EphA5; EPHA5
600059 RETINITIS PIGMENTOSA 13; RP13
600511 SCHIZOPHRENIA 3; SCZD3
600819 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1; FXR1
600997 EPHRIN RECEPTOR EphB2; EPHB2
601414 RETINITIS PIGMENTOSA 18; RP18
601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8
603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11
603540 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1
605021 MYOCLONIC EPILEPSY, INFANTILE
605055 ALZHEIMER DISEASE, EARLY-ONSET FAMILIAL, WITH COEXISTING AMYLOID AND
605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE
605339 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 2; FXR2
605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4
605552 ABDOMINAL OBESITY-METABOLIC SYNDROME
605726 NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE
605751 BENIGN FAMILIAL INFANTILE CONVULSIONS 2
605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
606052 BENIGN FAMILIAL INFANTILE CONVULSIONS 3
606053 PHRASE SPEECH DELAY, AUTISM-RELATED
606070 MYOPATHY, DISTAL 2; MPD2
607332 3.1 GENE
607340 G PROTEIN-COUPLED RECEPTOR 51; GPR51

November 8, 2002

New Entries:

607331 RETINITIS PIGMENTOSA 9 GENE; RP9
607332 3.1 GENE
607333 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CHROMOSOME REGION GENE
607334 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CHROMOSOME REGION GENE
607335 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 1; VMD2L1
607336 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 2; VMD2L2
607337 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 3; VMD2L3
607338 LEPTIN RECEPTOR OVERLAPPING TRANSCRIPT-LIKE 1; LEPROTL1

Changed Entries:

114212 CALCYPHOSINE; CAPS
180104 RETINITIS PIGMENTOSA 9; RP9
182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),
187280 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, tsBN51;
192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG
300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4
601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10
601884 HIGH BONE MASS; HBM
602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5
603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR
605778 NIF3-LIKE 1; NIF3L1
607173 PAD1, YEAST, HOMOLOG OF
607332 3.1 GENE
607335 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 1; VMD2L1
607336 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 2; VMD2L2
607337 VITELLIFORM MACULAR DYSTROPHY 2-LIKE GENE 3; VMD2L3
Clinical Synopsis for 157550 MOVED TO 117000

November 7, 2002

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
114020 CADHERIN 2; CDH2
116805 CATENIN, ALPHA-1; CTNNA1
116806 CATENIN, BETA-1; CTNNB1
117000 CENTRAL CORE DISEASE OF MUSCLE
123831 CYCLIN-DEPENDENT KINASE 5; CDK5
125480 MAJOR AFFECTIVE DISORDER 1; MAFD1
126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
142623 HIRSCHSPRUNG DISEASE
147450 SUPEROXIDE DISMUTASE 1; SOD1
157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT
157550 MOVED TO 117000
162230 NEUROFILAMENT PROTEIN, HEAVY POLYPEPTIDE; NEFH
162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL
164500 SPINOCEREBELLAR ATAXIA 7; SCA7
176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11
180200 RETINOBLASTOMA; RB1
186745 TALIN; TLN1
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;
191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3
204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1
227500 FACTOR VII DEFICIENCY
255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX
314400 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1
600179 GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D
600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2
601863 REGULATORY FACTOR X, 5; RFX5
602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;
602272 TRANSCRIPTION FACTOR 4; TCF4
602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
603279 EXPANDED REPEAT DOMAIN, CAG/CTG, 1; ERDA1
604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5;
604867 TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16
604878 SOLUTE CARRIER FAMILY 12, MEMBER 6; SLC12A6
605117 SUPPRESSOR OF CYTOKINE SIGNALING 2
606102 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C
606210 SELENOPROTEIN N, 1; SEPN1
607274 UBIQUITIN-SPECIFIC PROTEASE 14; USP14
Clinical Synopsis for 607174 MENINGIOMA, FAMILIAL
Clinical Synopsis for 607322 CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY

November 6, 2002

Changed Entries:

116860 CEREBRAL CAVERNOUS MALFORMATIONS 1; CCM1
122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6
125220 DEFENSIN, ALPHA, 1; DEFA1
155720 MELANOMA, UVEAL
171200 PHENYLTHIOCARBAMIDE TASTING; PTC
182392 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VII, ALPHA SUBUNIT; SCN7A
300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A
601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7
604011 UNC119, C. ELEGANS, HOMOLOG OF; UNC119
604214 CEREBRAL CAVERNOUS MALFORMATIONS 1 GENE; CCM1
604522 DEFENSIN, ALPHA, 3; DEFA3
605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;
606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B

November 6, 2002

New Entries:

300414 PHD FINGER PROTEIN 6; PHF6
607326 SMITH-MCCORT DYSPLASIA; SMC

Changed Entries:

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1
116880 CATHEPSIN L; CTSL
120810 COMPLEMENT COMPONENT 4A; C4A
123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4
126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
126375 DNA METHYLTRANSFERASE 1; DNMT1
135630 INTEGRIN, BETA-1; ITGB1
136880 FUNDUS ALBIPUNCTATUS
137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2
137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1
142445 NEUREGULIN 1; NRG1
143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,
147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO
151430 B-CELL CLL/LYMPHOMA 2; BCL2
153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
158320 MUIR-TORRE SYNDROME; MTS
159970 MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1
167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1
176300 TRANSTHYRETIN; TTR
176891 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1; PTPRZ1
177800 PSEUDOPAPILLEDEMA
180200 RETINOBLASTOMA; RB1
180435 RIBONUCLEASE L; RNASEL
181500 SCHIZOPHRENIA; SCZD
182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3
182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4
187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5
188040 THROMBOMODULIN; THBD
188340 THYMOCYTE ANTIGEN CD1C; CD1C
188360 THYMOCYTE ANTIGEN CD1B; CD1B
188370 THYMOCYTE ANTIGEN CD1A; CD1A
188410 THYMOCYTE ANTIGEN CD1D; CD1D
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
192500 LONG QT SYNDROME 1
193300 VON HIPPEL-LINDAU SYNDROME; VHL
194070 WILMS TUMOR 1; WT1
209920 BARE LYMPHOCYTE SYNDROME, TYPE II
218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY
223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
227500 FACTOR VII DEFICIENCY
232600 GLYCOGEN STORAGE DISEASE V
241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD
244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS
248200 STARGARDT DISEASE 1; STGD1
258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY
259900 HYPEROXALURIA, PRIMARY, TYPE I
260400 SHWACHMAN-DIAMOND SYNDROME; SDS
263400 ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN
300215 LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG
300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
300401 PROTEOLIPID PROTEIN 1; PLP1
300414 PHD FINGER PROTEIN 6; PHF6
301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS
312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3
600514 REELIN; RELN
600533 VANG-LIKE 2; VANGL2
600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A
600838 WINGED HELIX NUDE; WHN
600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C
600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,
601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A
601153 FRAGILE HISTIDINE TRIAD GENE; FHIT
601265 NODAL, MOUSE, HOMOLOG OF; NODAL
601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A
601365 DISHEVELLED 1; DVL1
601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601533 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 2; ADAM2
601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1
601617 RETINOL DEHYDROGENASE 5; RDH5
601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4
601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN
601969 DELETED IN MALIGNANT BRAIN TUMORS 1; DMBT1
602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;
602769 DNA METHYLTRANSFERASE 3A; DNMT3A
602900 DNA METHYLTRANSFERASE 3B; DNMT3B
603013 SCHIZOPHRENIA 6; SCZD6
603037 LEFT-RIGHT DETERMINATION, FACTOR B; LEFTB
603125 TYROSYLPROTEIN SULFOTRANSFERASE 1; TPST1
603174 HOMOCYSTEINEMIA
603448 DISABLED, DROSOPHILA, HOMOLOG OF, 1; DAB1
604934 TUBULIN-SPECIFIC CHAPERONE E; TBCE
604977 SERINE/THREONINE PROTEIN KINASE 19; STK19
605025 INTEGRIN, ALPHA-3; ITGA3
605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1
605204 TORSION DYSTONIA 1 GENE; DYT1
605322 WAP FOUR-DISULFIDE CORE DOMAIN 1, MOUSE, HOMOLOG OF; WFDC1
607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
607326 SMITH-MCCORT DYSPLASIA; SMC

November 1, 2002

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE
102300 ACROMELALGIA, HEREDITARY
109565 B-CELL LYMPHOMA 6; BCL6
118600 CHONDROCALCINOSIS 2; CCAL2
125310 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS
128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1
141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; MHP1
164400 SPINOCEREBELLAR ATAXIA 1; SCA1
176256 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 2;
176930 COAGULATION FACTOR II; F2
177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42
178600 PULMONARY HYPERTENSION, PRIMARY; PPH1
210900 BLOOM SYNDROME; BLM
300148 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM,
309850 MONOAMINE OXIDASE A; MAOA
600244 PROGRAMMED CELL DEATH 1; PDCD1
600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3
600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E
601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A
601017 SYNTROPHIN, ALPHA-1; SNTA1
601462 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS
601556 ATAXIN 1; ATX1
601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4
601858 CALMEGIN; CLGN
603358 GRACILE SYNDROME
603508 MYOMESIN 1; MYOM1
603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L
603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE
604479 SIRTUIN 1; SIRT1
605145 ANK, MOUSE, HOMOLOG OF; ANKH
605399 NIDOGEN 2; NID2
605820 NONAKA MYOPATHY; NM
606104 TUBULOPATHY, ENCEPHALOPATHY, AND LIVER FAILURE DUE TO COMPLEX III
606157 PANTOTHENATE KINASE 2; PANK2
607037 ENOYL-CoA HYDRATASE/3-HYDROXYACYL CoA DEHYDROGENASE; EHHADH
Clinical Synopsis for 102500 ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE
Clinical Synopsis for 126800 DUANE RETRACTION SYNDROME 1; DURS1
Clinical Synopsis for 194190 WOLF-HIRSCHHORN SYNDROME; WHS
Clinical Synopsis for 205900 DIAMOND-BLACKFAN ANEMIA; DBA
Clinical Synopsis for 265900 PYLE DISEASE
Clinical Synopsis for 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
Clinical Synopsis for 277700 WERNER SYNDROME; WRN

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