PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for June, 2000

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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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