PubMed
Nucleotide
Protein
Genome
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OMIM
OMIM Update List for June, 2000
Please send your questions to the
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June 29, 2000
New Entries:
605089
NUCLEAR LOCALIZATION SIGNAL DELETED IN VELOCARDIOFACIAL SYNDROME;
605090
RETINOIC ACID RECEPTOR RESPONDER 1; RARRES1
605092
RETINOIC ACID RECEPTOR RESPONDER 3; RARRES3
605093
LYMPHOCYTE ADAPTOR PROTEIN
Changed Entries:
100740
ACETYLCHOLINESTERASE; ACHE
134637
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6
147569
INTERFERON, GAMMA, RECEPTOR 2; IFNGR2
173350
PLASMINOGEN; PLG
173510
CD36 ANTIGEN; CD36
191190
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A
248310
MALARIA, INTENSITY OF INFECTION IN
253000
MUCOPOLYSACCHARIDOSIS TYPE IVA
601047
CAVEOLIN 1; CAV1
602943
RAR-RELATED ORPHAN RECEPTOR C; RORC
605085
TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1
605088
LUNG RESISTANCE-RELATED PROTEIN
605090
RETINOIC ACID RECEPTOR RESPONDER 1; RARRES1
June 28, 2000
New Entries:
605085
TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1
605086
TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2
605087
PHOSPHATIDYLINOSITOL GLYCAN, CLASS K; PIGK
605088
LUNG RESISTANCE-RELATED PROTEIN
Changed Entries:
106150
ANGIOTENSIN I; AGT
114480
CANCER OF THE BREAST, FAMILIAL; BCS
120328
COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1
139320
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE
139380
GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1; GNB1
143100
HUNTINGTON DISEASE; HD
173360
PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1
176930
COAGULATION FACTOR II; F2
179617
RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51
189970
GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE
245200
KRABBE DISEASE
300155
RETINITIS PIGMENTOSA 24; RP24
312600
RETINITIS PIGMENTOSA 2; RP2
312610
RETINITIS PIGMENTOSA 3; RP3
312612
RETINITIS PIGMENTOSA 6; RP6
600179
GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D
600933
COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1
601566
INHIBITOR OF GROWTH 1; ING1
601777
CONE-ROD DYSTROPHY 6; CORD6
602280
TUBBY-LIKE PROTEIN 1; TULP1
602956
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9
603058
PROTOCADHERIN, GAMMA, SUBFAMILY B, 4; PCDHGB4
603059
PROTOCADHERIN, GAMMA, SUBFAMILY A, 12; PCDHGA12
605070
EARLY ENDOSOME ANTIGEN 1; EEA1
605084
CALCIUM-BINDING ATOPY-RELATED AUTOANTIGEN 1; CBARA1
June 27, 2000
New Entries:
605079
SAL-LIKE 3; SALL3
605081
PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 3; PSCD3
605082
RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1
605083
FRIZZLED-RELATED PROTEIN; FRZB
605084
CALCIUM-BINDING ATOPY-RELATED AUTOANTIGEN 1; CBARA1
Changed Entries:
121013
GAP JUNCTION PROTEIN, ALPHA-5; GJA5
121014
GAP JUNCTION PROTEIN, ALPHA-1; GJA1
126375
DNA METHYLTRANSFERASE 1; DNMT1
164345
OLIGODENDROCYTE-MYELIN GLYCOPROTEIN; OMG
180202
RETINOBLASTOMA-BINDING PROTEIN 2; RBBP2
192500
LONG QT SYNDROME 1
600814
MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A
602027
TELOMERIC REPEAT-BINDING FACTOR 2; TERF2
602218
SAL-LIKE 1; SALL1
602667
NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
603715
GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, A; GCMA
604040
RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50
605076
SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 2; SNAPC2
605077
DNMT1-ASSOCIATED PROTEIN 1; DNMAP1
605078
TAR DNA-BINDING PROTEIN; TARDBP
605080
CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3
605082
RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1
June 26, 2000
New Entries:
605067
TRICUSPID ATRESIA
605073
MULIBREY NANISM GENE; MUL
605076
SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 2; SNAPC2
605077
DNMT1-ASSOCIATED PROTEIN; DNMAP1
605078
TAR DNA-BINDING PROTEIN; TARDBP
605080
CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3
Changed Entries:
113508
TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,
126375
DNA METHYLTRANSFERASE 1; DNMT1
138965
SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 6; SCYB6
164345
OLIGODENDROCYTE-MYELIN GLYCOPROTEIN; OMG
167050
OXYTOCIN--NEUROPHYSIN I; OXT
179605
RETINAL DEGENERATION, SLOW; RDS
180202
RETINOBLASTOMA-BINDING PROTEIN 2; RBBP2
180385
LIM DOMAIN ONLY 2; LMO2
186355
SYNDECAN 1; SDC1
221770
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;
253250
MULIBREY NANISM
259700
OSTEOPETROSIS, AUTOSOMAL RECESSIVE
262300
ACHROMATOPSIA 3; ACHM3
300247
BONE MORPHOGENETIC PROTEIN 15; BMP15
305400
FACIOGENITAL DYSPLASIA
600558
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4
600591
SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 1; SNAPC1
600724
CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1
601335
MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4
601546
PROSPERO-RELATED HOMEO BOX 1; PROX1
601691
ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4
601879
LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 9; LGALS9
602348
SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 3; SNAPC3
602544
PARKIN; PARK2
602777
SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 4; SNAPC4
603693
FRIEND OF GATA2
603715
GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, A; GCMA
604142
TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP
604592
T CELL IMMUNE REGULATOR 1; TCIRG1
605072
CHROMOSOME 19 OPEN READING FRAME 3; C19ORF3
605080
CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3
June 23, 2000
New Entries:
605066
TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,
605070
EARLY ENDOSOME ANTIGEN 1; EEA1
605071
G PROTEIN, ALPHA-INTERACTING PROTEIN
605072
CHROMOSOME 19 OPEN READING FRAME 3; C19ORF3
Changed Entries:
113508
TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,
137070
FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA; FUS
147545
INSULIN RECEPTOR SUBSTRATE 1; IRS1
151430
B-CELL CLL/LYMPHOMA 2; BCL2
182099
SECRETIN; SCT
203300
HERMANSKY-PUDLAK SYNDROME; HPS
600285
EUKARYOTIC TRANSLATION TERMINATION FACTOR 1; ETF1
600797
INSULIN RECEPTOR SUBSTRATE 2; IRS2
601288
TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,
601289
TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,
601417
KE6, MOUSE, HOMOLOG OF
602255
SERINE/THREONINE PROTEIN KINASE 25; STK25
603517
B-CELL CLL/LYMPHOMA 10; BCL10
605072
CHROMOSOME 19 OPEN READING FRAME 3; C19ORF3
June 22, 2000
New Entries:
300251
WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 2; WASF2
604982
HERMANSKY-PUDLAK SYNDROME GENE; HPS1
605065
CELL DIVISION CYCLE 37, S. CEREVISIAE, HOMOLOG OF; CDC37
605068
WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 3; WASF3
605069
G PROTEIN-COUPLED RECEPTOR KINASE 7; GPRK7
Changed Entries:
123829
CYCLIN-DEPENDENT KINASE 4; CDK4
126800
DUANE RETRACTION SYNDROME 1; DURS1
133430
ESTROGEN RECEPTOR 1; ESR1
133435
CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1
136950
PAIRED BASIC AMINO ACID CLEAVING ENZYME; PACE
140571
HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA
141900
HEMOGLOBIN--BETA LOCUS; HBB
176803
PROSTAGLANDIN D2 SYNTHASE, BRAIN; PTGDS
180380
RHODOPSIN; RHO
182099
SECRETIN; SCT
189490
TOOTH MALFORMATION
203300
HERMANSKY-PUDLAK SYNDROME; HPS
301870
BIGLYCAN; BGN
600285
EUKARYOTIC TRANSLATION TERMINATION FACTOR 1; ETF1
600869
G PROTEIN-COUPLED RECEPTOR KINASE 6; GPRK6
601366
MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; MADH2
601663
ESTROGEN RECEPTOR 2; ESR2
601915
TISSUE INHIBITOR OF METALLOPROTEINASE 4; TIMP4
602049
RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2; RAC2
602255
SERINE/THREONINE PROTEIN KINASE 25; STK25
602523
DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM
602724
PEANUT-LIKE 1; PNUTL1
603347
NEURONAL PAS DOMAIN PROTEIN 2; NPAS2
603401
ADAPTIN, BETA-3A; AP3B1
605035
WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1
605063
STRESS-INDUCED PHOSPHOPROTEIN 1; STIP1
605069
G PROTEIN-COUPLED RECEPTOR KINASE 7; GPRK7
June 21, 2000
Changed Entries:
102578
ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML
109090
SJOGREN SYNDROME ANTIGEN B; SSB
114780
CARBONIC ANHYDRASE VI; CA6
136537
FORMYL PEPTIDE RECEPTOR 1; FPR1
142952
HOMEO BOX A5; HOXA5
147141
TRANSCRIPTION FACTOR 3; TCF3
151690
ANNEXIN A1; ANXA1
164177
POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1
173110
POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1
176893
PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, GAMMA; PRKACG
179615
RECOMBINATION-ACTIVATING GENE 1; RAG1
179616
RECOMBINATION-ACTIVATING GENE 2; RAG2
180240
RETINOIC ACID RECEPTOR, ALPHA; RARA
190198
NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1
191170
TUMOR PROTEIN p53; TP53
274600
PENDRED SYNDROME; PDS
600568
NEUROLIGIN I; NRLG1
601156
SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 11; SCYA11
601467
MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1
601683
COENZYME Q7; COQ7
601924
COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA
601961
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 1;
602458
SORTILIN; SORT1
602659
MENAGE A TROIS 1; MNAT1
602950
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 2;
603024
SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,
603065
NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 2; NR1I2
604032
EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3
605007
A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
June 20, 2000
New Entries:
300249
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF,
605007
A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
605008
A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
605009
A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
605011
A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
605017
IMMUNOGLOBULIN, VARIABLE REGION-RELATED, PRE-B, III; VPREB3
605020
VISUAL SYSTEM HOMEO BOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1
605057
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF,
605058
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 44, YEAST, HOMOLOG OF
605060
CARBOHYDRATE KINASE-LIKE; CARKL
Changed Entries:
116951
CELL DIVISION CYCLE 2-LIKE 2; CDC2L2
121011
GAP JUNCTION PROTEIN, BETA-2; GJB2
142945
HOLOPROSENCEPHALY 3; HPE3
146771
IMMUNOGLOBULIN, VARIABLE REGION-RELATED, PRE-B, II; VPREB2
148350
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
165640
ORNITHINE DECARBOXYLASE 1; ODC1
176873
CELL DIVISION CYCLE 2-LIKE 1; CDC2L1
176893
PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, GAMMA; PRKACG
191740
URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1 FAMILY, MEMBER A; UGT1A
219800
CYSTINOSIS, NEPHROPATHIC; CTNS
240200
HYPOADRENOCORTICISM, FAMILIAL
240300
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
269200
SCHMIDT SYNDROME
304700
DEAFNESS, X-LINKED 1, PROGRESSIVE; DFN1
314670
X INACTIVATION-SPECIFIC TRANSCRIPT; XIST
600811
DNA DAMAGE-BINDING PROTEIN 2; DDB2
600951
TELOMERIC REPEAT-BINDING FACTOR 1; TERF1
602253
KRUPPEL-LIKE FACTOR 4; KLF4
602705
SYNAPSIN III; SYN3
603876
A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
604311
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP
605017
IMMUNOGLOBULIN, VARIABLE REGION-RELATED, PRE-B, III; VPREB3
605034
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23, YEAST, HOMOLOG OF
605058
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 44, YEAST, HOMOLOG OF
June 19, 2000
New Entries:
605059
CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6; CYP2B6
605061
TRF2-INTERACTING TELOMERIC PROTEIN
605062
TASTE RECEPTOR T2R5
605063
STRESS-INDUCED PHOSPHOPROTEIN 1; STIP1
Changed Entries:
121011
GAP JUNCTION PROTEIN, BETA-2; GJB2
124030
CYTOCHROME P450, SUBFAMILY IID; CYP2D
134797
FIBRILLIN 1; FBN1
142860
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA
146880
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1
160900
DYSTROPHIA MYOTONICA 1
184745
KIT LIGAND; KITLG
256500
NETHERTON SYNDROME; NETH
601416
KE4, MOUSE, HOMOLOG OF
602668
DYSTROPHIA MYOTONICA 2; DM2
604850
COP9, SUBUNIT 5; COPS5
605059
CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6; CYP2B6
June 16, 2000
New Entries:
605003
SUMO1-SPECIFIC PROTEASE 1
605005
UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE
Changed Entries:
108300
STICKLER SYNDROME, TYPE I; STL1
120140
COLLAGEN, TYPE II, ALPHA-1; COL2A1
120280
COLLAGEN, TYPE XI, ALPHA-1; COL11A1
120290
COLLAGEN, TYPE XI, ALPHA-2; COL11A2
139130
GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3
155555
MELANOCORTIN 1 RECEPTOR; MC1R
162200
NEUROFIBROMATOSIS, TYPE I; NF1
177020
PROTEINASE 3; PRTN3
184840
STICKLER SYNDROME, TYPE III; STL3
232400
GLYCOGEN STORAGE DISEASE III
277610
WEISSENBACHER-ZWEYMULLER SYNDROME; WZS
600181
LIPOCALIN 2; LCN2
603345
SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER
603968
POLYMERASE, DNA, ETA; POLH
604841
STICKLER SYNDROME, TYPE II; STL2
604961
PHOSPHODIESTERASE 11A; PDE11A
June 15, 2000
New Entries:
605050
H4 HISTONE FAMILY, MEMBER N; H4FN
605051
CANNABINOID RECEPTOR 2; CNR2
605052
TAR RNA-BINDING PROTEIN 1; TARBP1
605053
TAR RNA-BINDING PROTEIN 2; TARBP2
605054
SMALL EDRK-RICH FACTOR 2; SERF2
605055
ALZHEIMER DISEASE, EARLY-ONSET FAMILIAL, WITH COEXISTING AMYLOID AND
605056
WISKOTT-ALDRICH SYNDROME-LIKE; WASL
Changed Entries:
106180
DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1
108330
CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1
123930
CYTOCHROME P450, SUBFAMILY IIB; CYP2B
124020
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
124075
CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1
146740
Fc FRAGMENT OF IgG, LOW AFFINITY IIIa, RECEPTOR FOR; FCGR3A
152390
ARACHIDONATE 5-LIPOXYGENASE; ALOX5
180460
RIBOSOMAL PROTEIN S6; RPS6
190180
TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
221900
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC
249100
MEDITERRANEAN FEVER, FAMILIAL; MEFV
261600
PHENYLKETONURIA
266600
INFLAMMATORY BOWEL DISEASE 1; IBD1
270200
SJOGREN-LARSSON SYNDROME
300244
TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
308240
LYMPHOPROLIFERATIVE SYNDROME
600163
SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
601028
CD47 ANTIGEN; CD47
601129
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8; CYP2C8
601130
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
601131
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 18; CYP2C18
601763
CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8
602461
PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, SUBSTRATE 1; PTPNS1
603345
SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER
603353
SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER
604213
CHUDLEY-MCCULLOUGH SYNDROME
605024
SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER
605048
I-KAPPA-B KINASE-EPSILON
605052
TAR RNA-BINDING PROTEIN 1; TARBP1
June 14, 2000
New Entries:
605048
I-KAPPA-B KINASE-EPSILON
605049
TWISTED GASTRULATION
Changed Entries:
120810
COMPLEMENT COMPONENT 4A; C4A
142945
HOLOPROSENCEPHALY 3; HPE3
147683
INTERLEUKIN 13; IL13
147780
INTERLEUKIN 4; IL4
147850
INTERLEUKIN 5; IL5
162230
NEUROFILAMENT PROTEIN, HEAVY POLYPEPTIDE; NEFH
162330
TACHYKININ 3; TAC3
176300
TRANSTHYRETIN; TTR
177850
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT
187270
TELOMERE REVERSE TRANSCRIPTASE; TERT
189800
PREECLAMPSIA/ECLAMPSIA 1; PEE1
190080
V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
264800
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE
602667
NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
602875
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
603234
ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
604601
TRANSLATIONAL RELEASE FACTOR, MITOCHONDRIAL, 1; MTRF1
605001
ANGIOPOIETIN-LIKE 2; ANGPTL2
605046
UBIQUILIN 1; UBQLN1
605048
I-KAPPA-B KINASE-EPSILON
June 13, 2000
New Entries:
605046
DA41, RAT, HOMOLOG OF
605047
INTERFERON REGULATORY FACTOR 7; IRF7
Changed Entries:
131760
EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
134637
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6
137060
BETA-1,4-GALACTOSYLTRANSFERASE 1; B4GALT1
146550
HYPOTRICHOSIS, MARIE UNNA TYPE
148040
KERATIN 5; KRT5
148066
KERATIN 14; KRT14
155600
MELANOMA, CUTANEOUS MALIGNANT; CMM
176820
KALLIKREIN 3; KLK3
245900
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
308100
ICHTHYOSIS, X-LINKED
600194
KERATIN 2A; KRT2A
600877
POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 6; KCNJ6
601041
TRANSDUCIN-LIKE ENHANCER OF SPLIT 2; TLE2
601340
MELANOMA-INHIBITORY ACTIVITY; MIA
601530
SEQUESTOSOME 1; SQSTM1
601618
SOX18, MOUSE, HOMOLOG OF
601728
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
603734
INTERFERON REGULATORY FACTOR 3; IRF3
604417
ALL1 FUSED GENE FROM CHROMOSOME 5q31
604537
LEBER CONGENITAL AMAUROSIS, TYPE V
604816
MOVED TO 604213
604834
TANK-BINDING KINASE 1; TBK1
604943
PRESTIN; PRES
605047
INTERFERON REGULATORY FACTOR 7; IRF7
Clinical Synopsis for
176820
KALLIKREIN 3; KLK3
June 13, 2000
New Entries:
605001
ANGIOPOIETIN-LIKE 2; ANGPTL2
605040
CLAVICULAR HYPOPLASIA, ZYGOMATIC ARCH HYPOPLASIA, AND MICROGNATHIA
605041
SPIEGLER-BROOKE SYNDROME
605042
COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 3; CRSP3
605043
COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 7; CRSP7
605044
COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 8; CRSP8
605045
COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 9; CRSP9
Changed Entries:
100660
ALDEHYDE DEHYDROGENASE 3; ALDH3
132700
CYLINDROMATOSIS, FAMILIAL; CYLD
147557
INTEGRIN, BETA-4; ITGB4
148066
KERATIN 14; KRT14
174770
ACTINIC PRURIGO
211750
C SYNDROME
221900
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC
226650
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
239850
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
253800
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD
300182
COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 2; CRSP2
313100
MOVED TO 605041
601397
T BRACHYURY, MOUSE, HOMOLOG OF; T
601606
TRICHOEPITHELIOMA, MULTIPLE FAMILIAL
601787
TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2D; TAF2D
602421
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
603810
COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 6; CRSP6
604311
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP
604983
POLYMERASE, DNA, GAMMA-2; POLG2
605041
SPIEGLER-BROOKE SYNDROME
Clinical Synopsis for
313100
MOVED TO 605041
June 9, 2000
New Entries:
605039
C-LIKE SYNDROME
Changed Entries:
101000
NEUROFIBROMATOSIS, TYPE II; NF2
105830
ANGELMAN SYNDROME; AS
109565
B-CELL LYMPHOMA 6; BCL6
116805
CATENIN, ALPHA-1; CTNNA1
116806
CATENIN, BETA-1; CTNNB1
131244
ENDOTHELIN RECEPTOR, TYPE B; EDNRB
142983
MUSCLE SEGMENT HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; MSX1
143890
HYPERCHOLESTEROLEMIA, FAMILIAL
147545
INSULIN RECEPTOR SUBSTRATE 1; IRS1
155980
MEMBRANOUS CRANIAL OSSIFICATION, DELAYED
167250
PAGET DISEASE OF BONE 1; PDB1
176270
PRADER-WILLI SYNDROME; PWS
176920
PROTEUS SYNDROME
180245
RETINOID X RECEPTOR, ALPHA; RXRA
182279
SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN
189980
ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1
191315
NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1
227500
FACTOR VII DEFICIENCY
256800
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
312700
RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
314850
KELL BLOOD GROUP PRECURSOR; XK
600272
COILIN; COIL
601405
CHYMOTRYPSIN C; CTRC
601487
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
602080
PAGET DISEASE OF BONE 2; PDB2
602607
SOLUTE CARRIER FAMILY 22, MEMBER 1; SLC22A1
603755
MADH-INTERACTING PROTEIN; MADHIP
604473
GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1
604845
PROSTATE CANCER ANTIGEN 3; PCA3
June 8, 2000
New Entries:
605035
WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1
605036
ZINC FINGER PROTEIN 219
605037
KINESIN FAMILY MEMBER 17
605038
POSTMEIOTIC SEGREGATION INCREASED 2-LIKE 1; PMS2L1
Changed Entries:
107748
APEX NUCLEASE; APEX
138249
GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1
138252
GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;
147480
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP
171060
ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4
174763
POLYMERASE, DNA, GAMMA; POLG
178642
SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2
182870
SPECTRIN, BETA, ERYTHROCYTIC; SPTB
182900
SPHEROCYTOSIS, HEREDITARY; HS
192240
VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
236200
HOMOCYSTINURIA
267450
RESPIRATORY DISTRESS SYNDROME
277580
WAARDENBURG-SHAH SYNDROME
300172
CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK
308840
L1 CELL ADHESION MOLECULE; L1CAM
400009
UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON Y CHROMOSOME;
600127
PHOSPHODIESTERASE 4B, cAMP-SPECIFIC; PDE4B
600259
POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2
600541
ETS VARIANT GENE 1; ETV1
601384
LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS E; LY6E
601517
ATAXIN 2; ATX2
601652
MYOCILIN; MYOC
601691
ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4
602229
SRY-BOX 10; SOX10
602414
AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 1; APBA1
603375
SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,
603380
VERTEBRATE LIN7 HOMOLOG 1
604473
GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1
604981
WW DOMAIN-CONTAINING BINDING PROTEIN 4; WBP4
605034
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23, YEAST, HOMOLOG OF
605035
WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1
605036
ZINC FINGER PROTEIN 219
June 7, 2000
New Entries:
604999
SOMATOSTATIN RECEPTOR-INTERACTING PROTEIN
605034
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23, YEAST, HOMOLOG OF
Changed Entries:
104311
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
110700
BLOOD GROUP--DUFFY SYSTEM; FY
120100
COLD HYPERSENSITIVITY
123970
CYTOCHROME C
131220
FIBROBLAST GROWTH FACTOR 1; FGF1
133540
EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION
134370
H FACTOR 1; HF1
134920
FIBROBLAST GROWTH FACTOR 2; FGF2
136350
FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
142994
HOMEO BOX GENE HB9; HLXB9
147791
JACOBSEN SYNDROME; JBS
160900
DYSTROPHIA MYOTONICA
162643
CHEMOKINE (C-X-C) RECEPTOR 4; CXCR4
176943
FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
178630
SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1
178642
SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2
180902
RYANODINE RECEPTOR 2; RYR2
182790
SPECTRIN, BETA, NONERYTHROCYTIC, 1; SPTBN1
182870
SPECTRIN, BETA, ERYTHROCYTIC; SPTB
186945
FK506-BINDING PROTEIN 1A; FKBP1A
190197
CONTACTIN 2; CNTN2
194070
WILMS TUMOR 1; WT1
222600
DIASTROPHIC DYSPLASIA
227646
FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD
250850
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
252900
MUCOPOLYSACCHARIDOSIS TYPE IIIA
267450
RESPIRATORY DISTRESS SYNDROME
275000
GRAVES DISEASE
277580
WAARDENBURG-SHAH SYNDROME
278800
DE SANCTIS-CACCHIONE SYNDROME
309550
FRAGILE SITE MENTAL RETARDATION 1; FMR1
400005
UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y
400010
DEAD/H BOX 3, Y-LINKED; DBY
415000
AZOOSPERMIA FACTOR 1; AZF1
601014
DISCS LARGE, DROSOPHILA, HOMOLOG OF, 1; DLG1
601468
METHIONINE ADENOSYLTRANSFERASE II, ALPHA; MAT2A
601487
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601517
ATAXIN 2; ATX2
601659
CHROMOSOME 21 OPEN READING FRAME 33; C21ORF33
601690
PHOSPHOLIPASE A2, GROUP VII; PLA2G7
601949
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4
602026
PHYTANOYL-CoA HYDROXYLASE; PHYH
602143
TUMOR PROTEIN p53-BINDING PROTEIN 2; TP53BP2
602251
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10, YEAST, HOMOLOG OF;
602421
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
603940
POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 7; KCNK7
604985
SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2
605032
COMPLEXIN 1; CPLX1
June 6, 2000
New Entries:
604985
SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2
604987
LECTIN, C-TYPE, SUPERFAMILY MEMBER 5; CLECSF5
604988
SOLUTE CARRIER FAMILY 21, MEMBER 9; SLC21A9
604992
SARCALUMENIN; SRL
604994
SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 2; SIX2
604995
SOLUTE CARRIER FAMILY 22, MEMBER 7; SLC22A7
605031
SERINE/THREONINE PROTEIN KINASE 18; STK18
605032
COMPLEXIN 1; CPLX1
605033
COMPLEXIN 2; CPLX2
Changed Entries:
155240
MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC
162643
CHEMOKINE (C-X-C) RECEPTOR 4; CXCR4
164761
RET PROTOONCOGENE; RET
180901
RYANODINE RECEPTOR 1; RYR1
191315
NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1
218030
CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
274600
PENDRED SYNDROME; PDS
600189
TRANSDUCIN-LIKE ENHANCER OF SPLIT 1; TLE1
601205
SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; SIX1
601373
CHEMOKINE (C-C) RECEPTOR 5; CCR5
601834
CHEMOKINE (C-C) RECEPTOR 8; CCR8
602488
PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 2; PSCD2
603052
CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR 4; CPSF4
604313
GALACTOKINASE 1; GALK1
604981
WW DOMAIN-CONTAINING BINDING PROTEIN 4; WBP4
605032
COMPLEXIN 1; CPLX1
June 5, 2000
New Entries:
604981
WW DOMAIN-CONTAINING BINDING PROTEIN 4; WBP4
605029
KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY F, MEMBER 1
605030
SERINE/THREONINE PROTEIN KINASE 3; STK3
Changed Entries:
102581
ACTIVIN A RECEPTOR, TYPE II; ACVR2
117000
CENTRAL CORE DISEASE OF MUSCLE
138850
GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR
168450
PARATHYROID HORMONE; PTH
180901
RYANODINE RECEPTOR 1; RYR1
201475
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
277900
WILSON DISEASE
310400
MYOTUBULAR MYOPATHY 1; MTM1
400003
DELETED IN AZOOSPERMIA; DAZ
601284
ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1
604313
GALACTOKINASE 1; GALK1
604965
SERINE/THREONINE PROTEIN KINASE 4; STK4
605019
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
June 2, 2000
New Entries:
604963
PEPTIDOGLYCAN RECOGNITION PROTEIN; PGLYRP
604978
PRECURSOR mRNA CLEAVAGE FACTOR Im, 25-KD SUBUNIT
604979
PRECURSOR mRNA CLEAVAGE FACTOR Im, 68-KD SUBUNIT
604989
SPONDIN 1; SPON1
Changed Entries:
102578
ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML
109565
B-CELL LYMPHOMA 6; BCL6
116896
CUT-LIKE, 1; CUTL1
138890
GOOSECOID; GSC
147310
SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 10; SCYB10
164160
LEPTIN; LEP
181590
SCL-INTERRUPTING LOCUS; SIL
187040
T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1
189973
TRANSCRIPTION FACTOR ELF 1; ELF1
600058
PROTEIN TYROSINE KINASE TXK; TXK
600474
CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP
601512
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6
601535
EPHRIN A5; EFNA5
602614
MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7
603023
ZINC FINGER PROTEIN, SUBFAMILY 1A, 1; ZNFN1A1
604949
GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, GAMMA; GADD45G
604963
PEPTIDOGLYCAN RECOGNITION PROTEIN; PGLYRP
605025
INTEGRIN, ALPHA-3; ITGA3
June 1, 2000
New Entries:
605024
SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER
605025
INTEGRIN, ALPHA-3; ITGA3
605026
DIABETES MELLITUS, CONGENITAL AUTOIMMUNE
605027
LYMPHOMA, NON-HODGKIN
605028
LOW DENSITY LIPOPROTEIN CHOLESTEROL, MILD ELEVATION OF
Changed Entries:
104311
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
114835
CARBOXYLESTERASE 1; CES1
116945
MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 2; MCM2
163729
NITRIC OXIDE SYNTHASE 3; NOS3
164012
NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2
191190
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A
204500
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
212065
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
232200
GLYCOGEN STORAGE DISEASE I
238300
HYPERGLYCINEMIA, NONKETOTIC, 1
253260
BIOTINIDASE; BTD
600262
PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2
600738
SELECTIN P LIGAND; SELPLG
600875
ACYLPHOSPHATASE, ERYTHROCYTE; ACYP1
601013
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT; CACNA1E
601038
DEIODINASE, IODOTHYRONINE, TYPE III; DIO3
601512
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6
601982
8-@OXOGUANINE DNA GLYCOSYLASE; OGG1
602037
RAS HOMOLOG GENE FAMILY, MEMBER H; ARHH
602044
UNCOUPLING PROTEIN 3; UCP3
602221
ZINC FINGER PROTEIN 198; ZNF198
602384
PHOSPHOLIPASE D2; PLD2
602623
FK506-BINDING PROTEIN 5; FKBP5
602932
MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; MADH7
603234
ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
603460
CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 1; CDK5R1
604311
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP
605014
SYNTAXIN 11; STX11
605023
HYDROXYACID OXIDASE 1; HAO1
605024
SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER
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