PubMed
Nucleotide
Protein
Genome
Structure
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OMIM
OMIM Update List for November, 2002
Please send your questions to the
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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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