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Nucleotide
Protein
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OMIM
OMIM Update List for August, 2001
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August 31, 2001
New Entries:
606239
ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 4; ZNFN1A4
606240
NONMEDULLARY THYROID CARCINOMA 1
606241
DICER, DROSOPHILA, HOMOLOG OF
606242
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,
606243
ALVEOLAR SOFT PART SARCOMA; ASPS
606244
SIGNAL-TRANSDUCING ADAPTOR MOLECULE 2; STAM2
606245
JJAZ1 GENE
606246
JAZF1 GENE
606247
ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM
Clinical Synopsis for
606242
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,
Changed Entries:
147740
INTERLEUKIN 3; IL3
151410
BREAKPOINT CLUSTER REGION; BCR
179755
RENAL CELL CARCINOMA, PAPILLARY, 1 GENE; PRCC
188550
THYROID CARCINOMA, PAPILLARY
189980
ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1
208150
PENA-SHOKEIR SYNDROME, TYPE I
270685
SPASTIC PARAPLEGIA 17
600297
CAUDAL-TYPE HOMEO BOX TRANSCRIPTION FACTOR 2; CDX2
600649
HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE
600650
CARNITINE PALMITOYLTRANSFERASE II; CPT2
601124
SEMAPHORIN 3F; SEMA3F
601844
PROTEIN KINASE, LYSINE-DEFICIENT 4; PRKWNK4
601899
SIGNAL-TRANSDUCING ADAPTOR MOLECULE 1; STAM
602069
NEUROPILIN 1; NRP1
602070
NEUROPILIN 2; NRP2
602822
H4 HISTONE FAMILY, MEMBER A; H4FA
602950
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 2;
603961
SEMAPHORIN 3A; SEMA3A
604066
UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 5;
604825
FASCICULATION AND ELONGATION PROTEIN ZETA 1; FEZ1
605074
RENAL CELL CARCINOMA, PAPILLARY
605232
PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1
605386
LET7, C. ELEGANS, HOMOLOG OF
605642
THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA
606232
CHROMOSOME 22q13.3 DELETION SYNDROME
606236
ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPCR1
606238
ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 5
606240
NONMEDULLARY THYROID CARCINOMA 1
606242
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,
606245
JJAZ1 GENE
Clinical Synopsis for
155601
MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2
Clinical Synopsis for
156100
MENINGIOMA 1; MN1
Clinical Synopsis for
176860
PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO
Clinical Synopsis for
312300
REIFENSTEIN SYNDROME
Clinical Synopsis for
606242
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,
August 30, 2001
New Entries:
606234
ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 2
606235
THIOREDOXIN REDUCTASE 2
606236
ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPCR1
606237
TRANSFORMING GROWTH FACTOR-BETA RECEPTOR-ASSOCIATED PROTEIN 1
606238
ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 5
Changed Entries:
113505
BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF
114350
NUCLEOPORIN, 214-KD; NUP214
143100
HUNTINGTON DISEASE; HD
147470
INSULIN-LIKE GROWTH FACTOR II; IGF2
176730
INSULIN; INS
179755
RENAL CELL CARCINOMA, PAPILLARY, 1; PRCC
186590
SYNTAXIN 1A; STX1A
210900
BLOOM SYNDROME; BLM
216550
COHEN SYNDROME; COH1
305900
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
308100
ICHTHYOSIS, X-LINKED
312870
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
314310
TRANSCRIPTION FACTOR FOR IMMUNOGLOBULIN HEAVY-CHAIN ENHANCER 3; TFE3
600181
LIPOCALIN 2; LCN2
600502
IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2
601112
THIOREDOXIN REDUCTASE 1; TXNRD1
602501
MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
604320
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1
605199
SPLICING FACTOR, PROLINE- AND GLUTAMINE-RICH; SFPQ
605836
UNC13-LIKE; UNC13
606230
PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN 2
606236
ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPCR1
August 30, 2001
New Entries:
400023
CYTOKINE RECEPTOR-LIKE FACTOR 2, Y-LINKED; CRLF2Y
606230
PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN 2
606231
FLJ10659 GENE
606232
CHROMOSOME 22q13.3 DELETION SYNDROME
606233
ENDOCRINE GLAND-DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR
Changed Entries:
107280
ALPHA-1-ANTICHYMOTRYPSIN; AACT
116899
CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A
120436
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2
157680
CELL DIVISION CYCLE 25C; CDC25C
178990
MATRIX METALLOPROTEINASE 7; MMP7
190040
PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
191170
TUMOR PROTEIN p53; TP53
300357
CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2
600225
GTP CYCLOHYDROLASE I; GCH1
600664
CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK
602218
SAL-LIKE 1; SALL1
603749
TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; TRPC7
603768
PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12B; PPP1R12B
603903
SICKLE CELL ANEMIA
604638
ACTININ, ALPHA-4; ACTN4
August 28, 2001
New Entries:
300357
CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2
606224
URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 1; UMPH1
606225
TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1
606226
TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2
606227
MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN
606228
EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1
606229
EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2
Changed Entries:
116955
ZINC FINGER PROTEIN 9; ZNF9
126450
DOPAMINE RECEPTOR D2; DRD2
159530
MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL
164160
LEPTIN; LEP
167870
PANIC DISORDER
191050
TRYPTOPHANYL-tRNA SYNTHETASE; WARS
191181
SUPPRESSOR OF TUMORIGENICITY 3; ST3
191290
TYROSINE HYDROXYLASE; TH
191720
URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 2; UMPH2
194070
WILMS TUMOR 1; WT1
266120
URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA
300272
HISTONE DEACETYLASE 6; HDAC6
601182
ORIGIN RECOGNITION COMPLEX, SUBUNIT 2, S. CEREVISIAE, HOMOLOG OF;
601267
CHEMOKINE (C-C) RECEPTOR 2; CCR2
602668
DYSTROPHIA MYOTONICA 2; DM2
603526
METASTASIS-ASSOCIATED GENE 1; MTA1
603724
FIBROBLAST GROWTH FACTOR 16; FGF16
603839
NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 3; NDUFB3
604025
AXIS INHIBITOR 2; AXIN2
604155
LanC-LIKE 1; LANCL1
604498
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
605843
TRANS-2-ENOYL-CoA REDUCTASE, PEROXISOMAL
605865
TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3
605887
MOVED TO 300357
606224
URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 1; UMPH1
606228
EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1
August 27, 2001
Changed Entries:
107480
TOWNES-BROCKS SYNDROME; TBS
129010
EARLY GROWTH RESPONSE 2; EGR2
145900
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
151460
PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC
159430
MYELIN BASIC PROTEIN; MBP
159900
MYOCLONIC DYSTONIA
160900
DYSTROPHIA MYOTONICA 1
167870
PANIC DISORDER
175700
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
186580
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
188540
THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB
190070
V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2
225250
MOVED TO 218700
229300
FRIEDREICH ATAXIA 1; FRDA
249210
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME
600155
HIRSCHSPRUNG DISEASE 2; HSCR2
600737
INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2
601051
MESOTHELIN; MSLN
601074
CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 1; CUGBP1
601992
FRIEDREICH ATAXIA 2
603115
DEAD/H BOX 9; DDX9
603824
UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE
604149
SARCOGLYCAN, EPSILON; SGCE
605108
NEUROMEDIN U RECEPTOR 2; NMU2R
605408
DYSTONIA 11, MYOCLONIC; DYT11
605820
NONAKA MYOPATHY
605956
NOD2 PROTEIN
Clinical Synopsis for
225250
MOVED TO 218700
August 27, 2001
New Entries:
300356
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,
606176
DIABETES MELLITUS, NEONATAL-ONSET
606220
MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS
606221
ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 3; ZNFN1A3
606222
IMMUNOGLOBULIN SUPERFAMILY, MEMBER 6; IGSF6
606223
PROTEASOME 26S SUBUNIT, NON-ATPASE, 2; PSMD2
Changed Entries:
107280
ALPHA-1-ANTICHYMOTRYPSIN; AACT
111200
BLOOD GROUP--LUTHERAN SYSTEM; LU
112500
BRACHYDACTYLY, TYPE A1; BDA1
118450
ALAGILLE SYNDROME; AGS
125670
DESMOGLEIN 1; DSG1
138079
GLUCOKINASE; GCK
148700
KERATOSIS PALMOPLANTARIS STRIATA I
164785
MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2
167415
PAIRED BOX GENE 8; PAX8
173110
POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1
173510
CD36 ANTIGEN; CD36
179617
RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51
180069
RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65
186355
SYNDECAN 1; SDC1
192500
LONG QT SYNDROME 1
194355
X BOX-BINDING PROTEIN 1; XBP1
211530
BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS
217400
CORNEAL DYSTROPHY AND SENSORINEURAL DEAFNESS
218700
THYROID DYSGENESIS
225250
MOVED TO 218700
233700
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM
249100
FAMILIAL MEDITERRANEAN FEVER; FMF
275100
THYROTROPIN DEFICIENCY, ISOLATED
300030
DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4
300196
TRANSDUCIN-BETA-LIKE 1; TBL1
300200
ADRENAL HYPOPLASIA, CONGENITAL; AHC
300356
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,
303350
MASA SYNDROME
304500
DEAFNESS, X-LINKED 2, PERCEPTIVE CONGENITAL; DFN2
304700
MOHR-TRANEBJAERG SYNDROME; MTS
308840
L1 CELL ADHESION MOLECULE; L1CAM
600075
TATA BOX-BINDING PROTEIN; TBP
600118
WARBURG MICRO SYNDROME
600309
ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
600751
SIALOADHESIN; SN
600917
PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A
601410
DIABETES MELLITUS, TRANSIENT NEONATAL
601434
S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A
601487
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601843
SOLUTE CARRIER FAMILY 5, MEMBER 5; SLC5A5
601900
INTERFERON REGULATORY FACTOR 4; IRF4
601920
JAGGED 1; JAG1
602212
SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1
602418
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME
602544
PARKIN; PARK2
602617
FORKHEAD BOX E1; FOXE1
602704
MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4
602771
RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
603023
ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1
603423
PR DOMAIN-CONTAINING PROTEIN 1; PRDM1
605102
MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2
605471
ZINC FINGER PROTEIN, SUBFAMILY 2A, MEMBER 1; ZNFN2A1
606176
DIABETES MELLITUS, NEONATAL-ONSET
606186
SIAH1-INTERACTING PROTEIN
606210
SELENOPROTEIN N, 1; SEPN1
606214
SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4
Clinical Synopsis for
100800
ACHONDROPLASIA; ACH
Clinical Synopsis for
104300
ALZHEIMER DISEASE; AD
Clinical Synopsis for
156500
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
Clinical Synopsis for
189500
TOOTH-AND-NAIL SYNDROME
Clinical Synopsis for
200610
ACHONDROGENESIS, TYPE II; ACG2
Clinical Synopsis for
207800
ARGININEMIA
Clinical Synopsis for
208400
ASPARTYLGLUCOSAMINURIA
Clinical Synopsis for
213700
CEREBROTENDINOUS XANTHOMATOSIS
Clinical Synopsis for
230000
FUCOSIDOSIS
Clinical Synopsis for
231200
GIANT PLATELET SYNDROME
Clinical Synopsis for
231670
GLUTARICACIDEMIA I
Clinical Synopsis for
232300
GLYCOGEN STORAGE DISEASE II
Clinical Synopsis for
235200
HEMOCHROMATOSIS; HFE
Clinical Synopsis for
254770
MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1
Clinical Synopsis for
259700
OSTEOPETROSIS, AUTOSOMAL RECESSIVE
Clinical Synopsis for
600118
WARBURG MICRO SYNDROME
Clinical Synopsis for
605670
RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
August 22, 2001
New Entries:
300355
MENTAL RETARDATION, X-LINKED NONSPECIFIC, 73; MRX73
606219
HEAT-SHOCK PROTEIN, 75-KD
Changed Entries:
142440
HEPSIN; HPN
146730
INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1
146732
INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3
146928
INTERLEUKIN 8 RECEPTOR, BETA; IL8RB
146929
INTERLEUKIN 8 RECEPTOR, ALPHA; IL8RA
146930
INTERLEUKIN 8; IL8
152760
GONADOTROPIN-RELEASING HORMONE 1; GNRH1
164960
ONCOGENE PIM 1; PIM1
174800
MCCUNE-ALBRIGHT SYNDROME; MAS
176807
PROSTATE CANCER
201910
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
218030
CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
312300
REIFENSTEIN SYNDROME
415000
AZOOSPERMIA FACTOR 1; AZF1
600221
TEK TYROSINE KINASE, ENDOTHELIAL; TEK
601984
NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4
602355
TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6
602614
MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7
603122
DEDICATOR OF CYTOKINESIS 2; DOCK2
606201
WOLFRAM SYNDROME GENE 1; WFS1
606212
SIRTUIN 7; SIRT7
606214
SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4
Clinical Synopsis for
100800
ACHONDROPLASIA; ACH
Clinical Synopsis for
104300
ALZHEIMER DISEASE; AD
Clinical Synopsis for
276300
TURCOT SYNDROME
Clinical Synopsis for
300322
LESCH-NYHAN SYNDROME; LNS
August 21, 2001
New Entries:
606214
SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4
606215
ATRIOVENTRICULAR SEPTAL DEFECT 1
606216
SELENOPROTEIN X, 1; SEPX1
606217
ATRIOVENTRICULAR SEPTAL DEFECT 2
606218
SELENOPHOSPHATE SYNTHETASE 2
Changed Entries:
104170
ALPHA-GALACTOSIDASE B; GALB
113300
BRACHYDACTYLY, TYPE E; BDE
114170
CALPAIN, SMALL SUBUNIT 1; CAPNS1
147791
JACOBSEN SYNDROME; JBS
153550
5q- SYNDROME
222300
WOLFRAM SYNDROME
227500
FACTOR VII DEFICIENCY
600309
ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
600354
SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
602021
PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A
602999
PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3C; PPP1R3C
603326
PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3D; PPP1R3D
603485
NITROGEN FIXATION GENE 1; NFS1
605067
TRICUSPID ATRESIA
605297
TH1-LIKE; TH1L
605367
ELAC, E. COLI, HOMOLOG OF, 2; ELAC2
606201
WOLFRAM SYNDROME GENE 1; WFS1
606210
SELENOPROTEIN N, 1; SEPN1
Clinical Synopsis for
268400
ROTHMUND-THOMSON SYNDROME; RTS
August 20, 2001
New Entries:
606209
YKT6, S. CEREVISIAE, HOMOLOG OF
606210
SELENOPROTEIN N, 1; SLN1
606211
SIRTUIN 6; SIRT6
606212
SIRTUIN 7; SIRT7
606213
SIGNAL SEQUENCE RECEPTOR, GAMMA; SSR3
Changed Entries:
300254
SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1
601128
H3 HISTONE, FAMILY 3A; H3F3A
601920
JAGGED 1; JAG1
604511
CHROMOBOX HOMOLOG 1; CBX1
Clinical Synopsis for
252500
MUCOLIPIDOSIS II
August 17, 2001
New Entries:
606191
FORMIN-BINDING PROTEIN 17
606207
SOLUTE CARRIER FAMILY 28, MEMBER 1; SLC28A1
606208
SOLUTE CARRIER FAMILY 28, MEMBER 2; SLC28A2
Changed Entries:
102560
ACTIN, GAMMA-1; ACTG1
107776
AQUAPORIN 1; AQP1
119800
CLUBFOOT
131195
ENDOGLIN; ENG
133170
ERYTHROPOIETIN; EPO
147796
JANUS KINASE 2; JAK2
152690
THYROID AUTOANTIGEN, 70-KD; G22P1
159555
MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL
160000
MYOGLOBIN; MB
164011
NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1
170260
TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,
170261
TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,
180200
RETINOBLASTOMA; RB1
188550
THYROID CARCINOMA, PAPILLARY
192240
VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
305100
ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1
305990
GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2
600701
HIGH MOBILITY GROUP PROTEIN ISOFORMS I AND Y; HMGIY
601121
PLACENTAL GROWTH FACTOR; PGF
601410
DIABETES MELLITUS, TRANSIENT NEONATAL
601738
EXOSTOSIN-LIKE 1; EXTL1
604373
CHECKPOINT KINASE 2
604478
CHROMOBOX HOMOLOG 5; CBX5
604928
WOLFRAM SYNDROME GENE 2; WFS2
605705
SNF1-LIKE KINASE; SNF1LK
August 16, 2001
New Entries:
606203
GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2
606204
LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS D
606205
SOLUTE CARRIER FAMILY 6, MEMBER 7; SLC6A7
606206
METALLOTHIONEIN 4
Changed Entries:
113650
BRANCHIOOTORENAL DYSPLASIA
118938
CHYMASE 1; CMA1
119800
CLUBFOOT
120110
COLLAGEN, TYPE X, ALPHA-1; COL10A1
120435
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1
120436
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2
131220
FIBROBLAST GROWTH FACTOR 1; FGF1
142623
HIRSCHSPRUNG DISEASE
142983
MUSCLE SEGMENT HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; MSX1
143100
HUNTINGTON DISEASE; HD
147851
INTERLEUKIN 5 RECEPTOR, ALPHA; IL5RA
162200
NEUROFIBROMATOSIS, TYPE I; NF1
164761
RET PROTOONCOGENE; RET
170260
TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,
170261
TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,
176450
CURRARINO SYNDROME
176943
FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
177045
PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9
177046
PROTEASOME SUBUNIT, BETA-TYPE, 8; PSMB8
180860
RUSSELL-SILVER SYNDROME; RSS
184430
SRY-BOX 4; SOX4
194364
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; XRCC5
227600
FACTOR X DEFICIENCY
249270
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA
305100
ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1
308100
ICHTHYOSIS, X-LINKED
308240
LYMPHOPROLIFERATIVE SYNDROME
309550
FRAGILE SITE MENTAL RETARDATION 1; FMR1
475000
GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY
601523
GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10
601653
EYES ABSENT 1; EYA1
601728
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
601738
EXOSTOSIN-LIKE 1; EXTL1
601785
PHOSPHOMANNOMUTASE 2; PMM2
601920
JAGGED 1; JAG1
602217
SYNDECAN-BINDING PROTEIN; SDCBP
602370
GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED MOLECULE-LIKE PROTEIN; GML
603625
LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS H; LY6H
603827
BCL2-LIKE 11; BCL2L11
603941
SOLUTE CARRIER FAMILY 19, MEMBER 2; SLC19A2
605710
GDNF FAMILY RECEPTOR ALPHA-3; GFRA3
606174
BACULUM, CONGENITAL ABSENCE OF
606205
SOLUTE CARRIER FAMILY 6, MEMBER 7; SLC6A7
606206
METALLOTHIONEIN 4
August 15, 2001
New Entries:
300354
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE
606190
MENINGIOMA, RADIATION-INDUCED
606201
WOLFRAM SYNDROME GENE 1; WFS1
606202
MELANOMA ANTIGEN AIM1
Changed Entries:
104311
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
104760
AMYLOID BETA A4 PRECURSOR PROTEIN; APP
109600
BEETURIA
114208
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
120160
COLLAGEN, TYPE I, ALPHA-2; COL1A2
121011
GAP JUNCTION PROTEIN, BETA-2; GJB2
131300
CAMURATI-ENGELMANN DISEASE
139395
GUSTDUCIN, ALPHA POLYPEPTIDE
143890
HYPERCHOLESTEROLEMIA, FAMILIAL
155550
SILVER, MOUSE, HOMOLOG OF; SILV
160900
DYSTROPHIA MYOTONICA 1
176261
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;
176640
PRION PROTEIN; PRNP
192350
VATER ASSOCIATION
194200
WOLFF-PARKINSON-WHITE SYNDROME
212780
CENANI SYNDACTYLISM
222300
WOLFRAM SYNDROME
229300
FRIEDREICH ATAXIA 1; FRDA
230800
GAUCHER DISEASE, TYPE I
235200
HEMOCHROMATOSIS; HFE
267000
RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM
301000
WISKOTT-ALDRICH SYNDROME; WAS
601419
DESMIN-RELATED MYOPATHY
601984
NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4
604386
ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1
605692
LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 7
605961
PLEIOTROPIC REGULATOR 1; PLRG1
606195
IROQUOIS HOMEO BOX PROTEIN 5; IRX5
606196
IROQUOIS HOMEO BOX PROTEIN 7; IRX7
606197
IROQUOIS HOMEO BOX PROTEIN 1; IRX1
606198
IROQUOIS HOMEO BOX PROTEIN 2; IRX2
606201
WOLFRAM SYNDROME GENE 1; WFS1
Clinical Synopsis for
112200
BLUE RUBBER BLEB NEVUS
Clinical Synopsis for
155600
MELANOMA, CUTANEOUS MALIGNANT; CMM
Clinical Synopsis for
175100
ADENOMATOUS POLYPOSIS OF THE COLON; APC
Clinical Synopsis for
175200
PEUTZ-JEGHERS SYNDROME; PJS
Clinical Synopsis for
175500
POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES
August 14, 2001
New Entries:
606171
TRANSFER RNA SERINE 1; TRS1
606172
TRANSFER RNA SERINE 3; TRS3
606195
IROQUOIS HOMEO BOX PROTEIN 5; IRX5
606196
IROQUOIS HOMEO BOX PROTEIN 7; IRX7
606197
IROQUOIS HOMEO BOX PROTEIN 1; IRX1
606198
IROQUOIS HOMEO BOX PROTEIN 2; IRX2
606200
BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN DEC2
Changed Entries:
145260
PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2
147760
INTERLEUKIN 1-ALPHA; IL1A
163890
SYNUCLEIN, ALPHA; SNCA
174800
MCCUNE-ALBRIGHT SYNDROME; MAS
601844
WNK4 PROTEIN KINASE
605232
PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1
606189
CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1
Clinical Synopsis for
158350
COWDEN DISEASE; CD
Clinical Synopsis for
216550
COHEN SYNDROME; COH1
Clinical Synopsis for
253260
BIOTINIDASE; BTD
Clinical Synopsis for
253270
MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD
August 14, 2001
New Entries:
300353
IMMUNOGLOBULIN SUPERFAMILY PROTEIN Z39IG
606192
BUTYROPHILIN-LIKE PROTEIN 3; BTNL3
606193
SOLUTE CARRIER FAMILY 13, MEMBER 1; SLC13A1
606194
KERATIN 23; KRT23
Changed Entries:
106180
ANGIOTENSIN I-CONVERTING ENZYME; ACE
107776
AQUAPORIN 1; AQP1
133430
ESTROGEN RECEPTOR 1; ESR1
138850
GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR
176763
PEROXIREDOXIN 1; PRDX1
191160
TUMOR NECROSIS FACTOR; TNF
227645
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
300005
METHYL-CpG-BINDING PROTEIN 2; MECP2
600116
PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ
600538
PEROXIREDOXIN 2; PRDX2
601476
LYSOSOMAL-ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5; LAPTM5
601482
DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1
601485
SYNTAXIN 1B; STX1B
601490
NUCLEAR FACTOR ERYTHROID 2, p45 SUBUNIT; NFE2
602544
PARKIN; PARK2
603721
UBIQUITIN-CONJUGATING ENZYME E2L 3; UBE2L3
604148
SOLUTE CARRIER FAMILY 13, MEMBER 2; SLC13A2
604309
SOLUTE CARRIER FAMILY 13, MEMBER 4; SLC13A4
605272
NMYC DOWNSTREAM-REGULATED GENE 2; NDRG2
605284
TUBEROUS SCLEROSIS 1 GENE; TSC1
605446
RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1
Clinical Synopsis for
249100
FAMILIAL MEDITERRANEAN FEVER; FMF
Clinical Synopsis for
250800
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Clinical Synopsis for
251000
METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY
Clinical Synopsis for
252600
MUCOLIPIDOSIS III
August 10, 2001
New Entries:
606188
A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 28; ADAM28
606189
CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1
Changed Entries:
107741
APOLIPOPROTEIN E; APOE
113705
BREAST CANCER, TYPE 1; BRCA1
122720
CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6
130650
BECKWITH-WIEDEMANN SYNDROME; BWS
134820
FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA
134934
FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
137580
GILLES DE LA TOURETTE SYNDROME; GTS
139320
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE
142240
HEMOGLOBIN--THETA-1 LOCUS; HBQ1
165390
RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA
176807
PROSTATE CANCER
182451
SOMATOSTATIN RECEPTOR 1; SSTR1
182452
SOMATOSTATIN RECEPTOR 2; SSTR2
182455
SOMATOSTATIN RECEPTOR 5; SSTR5
205900
DIAMOND-BLACKFAN ANEMIA; DBA
225280
EEM SYNDROME
231070
GERODERMA OSTEODYSPLASTICA; GO
238300
GLYCINE DECARBOXYLASE; GLDC
238310
AMINOMETHYLTRANSFERASE; AMT
238330
GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH
245480
SPECIFIC GRANULE DEFICIENCY; SGD
250100
METACHROMATIC LEUKODYSTROPHY
278250
WRINKLY SKIN SYNDROME; WSS
300173
MELANOMA ANTIGEN, FAMILY A, 2; MAGEA2
302950
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
302960
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
308240
LYMPHOPROLIFERATIVE SYNDROME
600474
CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP
600618
ETS VARIANT GENE 6; ETV6
600749
CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE
601373
CHEMOKINE (C-C) RECEPTOR 5; CCR5
601511
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A
601559
STUVE-WIEDEMANN SYNDROME
601627
SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2
601663
ESTROGEN RECEPTOR 2; ESR2
601728
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
602109
MATRILIN 3; MATN3
602250
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9
602686
MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG-LIKE 1; MAD1L1
603474
RIBOSOMAL PROTEIN S19; RPS19
603537
POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4
604297
SYNAPTOJANIN 1; SYNJ1
Clinical Synopsis for
133540
EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION
Clinical Synopsis for
216400
COCKAYNE SYNDROME, TYPE I; CKN1
Clinical Synopsis for
277590
WEAVER SYNDROME
August 9, 2001
New Entries:
606183
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY
606184
A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
606185
p53-DEPENDENT DAMAGE-INDUCIBLE NUCLEAR PROTEIN 1
606186
SIAH1-INTERACTING PROTEIN
606187
ALZHEIMER DISEASE 7
Clinical Synopsis for
300209
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
Changed Entries:
104300
ALZHEIMER DISEASE; AD
109150
MACHADO-JOSEPH DISEASE; MJD
109691
BETA-3-ADRENERGIC RECEPTOR; ADRB3
139250
GROWTH HORMONE 1; GH1
164160
LEPTIN; LEP
179755
RENAL CELL CARCINOMA, PAPILLARY, 1; PRCC
192240
VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
249210
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME
300209
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
600698
HIGH MOBILITY GROUP PROTEIN ISOFORM I-C; HMGIC
600845
PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1
600848
NUCLEAR RECEPTOR COREPRESSOR 2; NCOR2
601434
S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A
601663
ESTROGEN RECEPTOR 2; ESR2
601713
GLIA MATURATION FACTOR, BETA; GMFB
602212
SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1
602311
AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP
602510
PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, H; PTPRH
603085
SOLUTE CARRIER FAMILY 31, MEMBER 1; SLC31A1
603500
TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN;
604640
HOMEO BOX 11-LIKE 2
605414
ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 7; ABCA7
605526
ALZHEIMER DISEASE 6
605849
DIMETHYLGLYCINE DEHYDROGENASE; DMGDH
606163
CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION
Clinical Synopsis for
105400
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
Mini-MIM for
164160
LEPTIN; LEP
August 8, 2001
New Entries:
606177
PARS PLANITIS
606178
HEDGEHOG-INTERACTING PROTEIN
606179
ANEURYSMAL BONE CYSTS
606180
POLYMYOSITIS/SCLERODERMA AUTOANTIGEN 1; PMSCL1
606181
DEAD/H BOX 24; DDX24
606182
TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 9; TNFSF9
Changed Entries:
106150
ANGIOTENSIN I; AGT
107741
APOLIPOPROTEIN E; APOE
109135
AXL RECEPTOR TYROSINE KINASE; AXL
118220
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
138850
GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR
147280
INSULIN-LIKE GROWTH FACTOR 2 RECEPTOR; IGF2R
147440
INSULIN-LIKE GROWTH FACTOR I; IGF1
147570
INTERFERON, GAMMA; IFNG
151430
B-CELL CLL/LYMPHOMA 2; BCL2
154700
MARFAN SYNDROME; MFS
165500
OPTIC ATROPHY 1; OPA1
169550
PELVIS-SHOULDER DYSPLASIA
173910
POLYCYSTIC KIDNEY DISEASE 2; PKD2
176760
PROLACTIN; PRL
176830
PROOPIOMELANOCORTIN; POMC
209950
ATYPICAL MYCOBACTERIOSIS, FAMILIAL
220110
COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
228300
FERTILE EUNUCH SYNDROME
228930
FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND
250250
CARTILAGE-HAIR HYPOPLASIA; CHH
251880
MITOCHONDRIAL DNA DEPLETION SYNDROME
252010
COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
260660
PELVISCAPULAR DYSPLASIA
269600
SEA-BLUE HISTIOCYTE DISEASE
300100
ADRENOLEUKODYSTROPHY; ALD
600018
OPIOID RECEPTOR, MU-1; OPRM1
600040
BCL2-ASSOCIATED X PROTEIN; BAX
600341
TYRO3 PROTEIN TYROSINE KINASE; TYRO3
600555
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1
603041
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
603827
BCL2-LIKE 11; BCL2L11
604705
MER TYROSINE KINASE PROTOONCOGENE; MERTK
605423
DESERT HEDGEHOG; DHH
605960
POLYMYOSITIS/SCLERODERMA AUTOANTIGEN 2; PMSCL2
Clinical Synopsis for
133540
EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION
Clinical Synopsis for
216400
COCKAYNE SYNDROME, TYPE I; CKN1
August 8, 2001
Changed Entries:
147570
INTERFERON, GAMMA; IFNG
164960
ONCOGENE PIM 1; PIM1
167414
PAIRED BOX GENE 5; PAX5
182115
PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 1; PSCD1
190080
V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
191092
TUBEROUS SCLEROSIS 2 GENE; TSC2
257220
NIEMANN-PICK DISEASE, TYPE C
261640
6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS
308840
L1 CELL ADHESION MOLECULE; L1CAM
309548
FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE
312900
SPASTIC PARAPLEGIA 1, X-LINKED, COMPLICATED; SPG1
313700
ANDROGEN RECEPTOR; AR
600184
CARNITINE ACETYLTRANSFERASE; CRAT
600354
SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
600497
PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2
601156
SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 11; SCYA11
601313
POLYCYSTIC KIDNEY DISEASE 1; PKD1
601470
CHEMOKINE (C-X3-C) RECEPTOR 1; CX3CR1
601663
ESTROGEN RECEPTOR 2; ESR2
602037
RAS HOMOLOG GENE FAMILY, MEMBER H; ARHH
604720
TRANSFERRIN RECEPTOR 2; TFR2
Clinical Synopsis for
600184
CARNITINE ACETYLTRANSFERASE; CRAT
August 6, 2001
New Entries:
300352
CREATINE DEFICIENCY SYNDROME, X-LINKED
606175
CARNITINE ACETYLTRANSFERASE DEFICIENCY
Changed Entries:
102579
REPLICATION FACTOR C, 140-KD SUBUNIT; RFC1
112262
BONE MORPHOGENETIC PROTEIN 4; BMP4
118425
CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1
120328
COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1
139191
GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR
147960
KALLIKREIN 2; KLK2
163950
NOONAN SYNDROME 1; NS1
170998
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA
176830
PROOPIOMELANOCORTIN; POMC
180200
RETINOBLASTOMA; RB1
184700
POLYCYSTIC OVARY SYNDROME 1; PCOS1
274500
THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIA
274600
PENDRED SYNDROME; PDS
300036
SOLUTE CARRIER FAMILY 6, MEMBER 8; SLC6A8
300168
GLYPICAN 4; GPC4
300352
CREATINE DEFICIENCY SYNDROME, X-LINKED
600184
CARNITINE ACETYLTRANSFERASE; CRAT
600395
GLYPICAN 1; GPC1
600791
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 4; DFNB4
601984
NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4
603009
DYSFERLIN; DYSF
603406
TRANSCRIPTIONAL INTERMEDIARY FACTOR 1; TIF1
603506
LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5
603545
ENLARGED VESTIBULAR AQUEDUCT SYNDROME
603816
AXIS INHIBITOR 1; AXIN1
604250
HEMOCHROMATOSIS, TYPE 3
605646
SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4
605732
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 21; TNFRSF21
605910
ANGIOPOIETIN-LIKE 4; ANGPTL4
August 3, 2001
New Entries:
606173
GrpE, E. COLI, HOMOLOG OF
606174
BACULUM DEFICIENCY, CONGENITAL
Changed Entries:
126380
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1
133520
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4
133530
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
164761
RET PROTOONCOGENE; RET
177735
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
189971
E2F TRANSCRIPTION FACTOR 1; E2F1
190080
V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
219700
CYSTIC FIBROSIS; CF
278700
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
278720
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
313700
ANDROGEN RECEPTOR; AR
600062
RAD23, YEAST, HOMOLOG OF, B; RAD23B
600426
E2F TRANSCRIPTION FACTOR 2; E2F2
600427
E2F TRANSCRIPTION FACTOR 3; E2F3
600659
E2F TRANSCRIPTION FACTOR 4; E2F4
600814
MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A
600894
G PROTEIN-COUPLED RECEPTOR 9; GPR9
600983
NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2
601373
CHEMOKINE (C-C) RECEPTOR 5; CCR5
601413
DEIODINASE, IODOTHYRONINE, TYPE II; DIO2
602251
TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10, YEAST, HOMOLOG OF;
602746
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14
604572
DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY B, MEMBER 1; DNAJB1
606174
BACULUM DEFICIENCY, CONGENITAL
August 2, 2001
New Entries:
606150
FATTY ACID DESATURASE 3; FADS3
606153
ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, EPSILON SUBUNIT;
606168
DEAD/H BOX 20; DDX20
606169
METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS
606170
GENITOPATELLAR SYNDROME
Changed Entries:
106165
ANGIOTENSIN RECEPTOR 1; AGTR1
112500
BRACHYDACTYLY, TYPE A1; BDA1
123841
PEPTIDYL-PROLYL ISOMERASE B; PPIB
130650
BECKWITH-WIEDEMANN SYNDROME; BWS
131100
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
134790
FERRITIN LIGHT CHAIN; FTL
136430
FOLATE RECEPTOR 1, ADULT; FOLR1
142830
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B
142987
HOMEO BOX D1; HOXD1
143890
HYPERCHOLESTEROLEMIA, FAMILIAL
146930
INTERLEUKIN 8; IL8
164160
LEPTIN; LEP
176930
COAGULATION FACTOR II; F2
186355
SYNDECAN 1; SDC1
186357
SYNDECAN 3; SDC3
186550
SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY
189910
TRANSFER RNA SERINE 2; TRS2
203300
HERMANSKY-PUDLAK SYNDROME; HPS
203500
ALKAPTONURIA
205900
DIAMOND-BLACKFAN ANEMIA; DBA
216400
COCKAYNE SYNDROME, TYPE I; CKN1
218030
CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
219700
CYSTIC FIBROSIS; CF
224690
EAR, PATELLA, SHORT STATURE SYNDROME
234200
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN
309550
FRAGILE SITE MENTAL RETARDATION 1; FMR1
600040
BCL2-ASSOCIATED X PROTEIN; BAX
600354
SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
600483
FIBROBLAST GROWTH FACTOR 8; FGF8
600725
SONIC HEDGEHOG; SHH
600726
INDIAN HEDGEHOG; IHH
601482
DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1
601612
LUNG AGENESIS
601688
15-@HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD
602289
DR1-ASSOCIATED PROTEIN 1; DRAP1
604092
TTK PROTEIN KINASE; TTK
604118
RAS PROTEIN ACTIVATOR-LIKE 1; RASAL1
604326
SPINOCEREBELLAR ATAXIA 12; SCA12
605061
TRF2-INTERACTING TELOMERIC PROTEIN
605423
DESERT HEDGEHOG; DHH
605446
RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1
606085
TESTIN; TES
606118
HERMANSKY-PUDLAK SYNDROME GENE 3; HPS3
August 1, 2001
New Entries:
606167
G2 ACCUMULATION PROTEIN
Changed Entries:
106180
ANGIOTENSIN I CONVERTING ENZYME; ACE
115460
CASEIN, BETA; CSN2
168468
PARATHYROID HORMONE RECEPTOR 1; PTHR1
176830
PROOPIOMELANOCORTIN; POMC
179590
PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF
202110
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
216400
COCKAYNE SYNDROME, TYPE I; CKN1
307800
HYPOPHOSPHATEMIA, X-LINKED
601511
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A
602044
UNCOUPLING PROTEIN 3; UCP3
605946
METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE
Clinical Synopsis for
133540
EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION
Clinical Synopsis for
216400
COCKAYNE SYNDROME, TYPE I; CKN1
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