PubMed
Nucleotide
Protein
Genome
Structure
PopSet
Taxonomy
OMIM
OMIM Update List for June, 2004
Please send your questions to the
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June 30, 2004
New Entries:
300484
OROFACIODIGITAL SYNDROME VIII
300493
SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER
500002
MITOCHONDRIAL MYOPATHY WITH DIABETES
608518
OROFACIODIGITAL SYNDROME VII
608767
FEM1, C. ELEGANS, HOMOLOG OF, C; FEM1C
Changed Entries:
109400
BASAL CELL NEVUS SYNDROME; BCNS
109900
BLEPHAROCHALASIS AND DOUBLE LIP
118450
ALAGILLE SYNDROME; AGS
118651
CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE
120160
COLLAGEN, TYPE I, ALPHA-2; COL1A2
123810
cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1
124000
CYTOCHROME-RELATED DISEASE OF MUSCLE AND NERVOUS SYSTEM
134570
FACTOR XIII, A1 SUBUNIT; F13A1
142956
HOMEOBOX A9; HOXA9
157650
MOVED TO 500002
165590
OROFACIODIGITAL SYNDROME X
174300
OROFACIODIGITAL SYNDROME V
190100
GENIOSPASM 1; GSM1
214100
ZELLWEGER SYNDROME; ZS
220150
HYPOURICEMIA, RENAL
225320
EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
235200
HEMOCHROMATOSIS; HFE
252100
MOHR SYNDROME
258850
OROFACIODIGITAL SYNDROME III
258860
OROFACIODIGITAL SYNDROME IV
258865
OROFACIODIGITAL SYNDROME IX
266510
REFSUM DISEASE, INFANTILE FORM
271900
CANAVAN DISEASE
277170
VARADI-PAPP SYNDROME
300156
CANCER/TESTIS ANTIGEN 1B; CTAG1B
309550
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1
311200
OROFACIODIGITAL SYNDROME I; OFD1
590025
TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE
600225
GTP CYCLOHYDROLASE I; GCH1
602218
SAL-LIKE 1; SALL1
605262
NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1
605494
INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP
606347
PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 1; PSTPIP1
606415
CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH
607096
SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12
608034
ASPARTOACYLASE; ASPA
608107
FAMILIAL MEDITERRANEAN FEVER GENE; MEFV
608666
PEROXISOME BIOGENESIS FACTOR 26; PEX26
Clinical Synopsis for
271530
SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA
Clinical Synopsis for
271630
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE
Clinical Synopsis for
302350
CATARACT-DENTAL SYNDROME
June 29, 2004
New Entries:
608763
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE
608764
PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1
608766
LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1B; LRP1B
Changed Entries:
107480
TOWNES-BROCKS SYNDROME; TBS
115200
CARDIOMYOPATHY, DILATED, 1A; CMD1A
124092
INTERLEUKIN 10; IL10
130090
EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED
133530
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
142705
HISTIDINE-RICH CALCIUM-BINDING PROTEIN; HRC
163910
HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2; HMGN2
176797
ZINC FINGER PROTEIN 145; ZNF145
180300
RHEUMATOID ARTHRITIS; RA
184450
STUTTERING, FAMILIAL PERSISTENT
238600
HYPERLIPOPROTEINEMIA, TYPE I
300382
ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
561000
RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1
600095
SPLIT-HAND/FOOT MALFORMATION 3; SHFM3
600994
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5
601019
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER
601373
CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5
601642
INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2
602195
HEAT-SHOCK 27-KD PROTEIN 1; HSPB1
602218
SAL-LIKE 1; SALL1
602431
ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2
603746
SLIT, DROSOPHILA, HOMOLOG OF, 2; SLIT2
604502
HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 3; HMGN3
606217
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2
606582
DELTA-LIKE 1; DLL1
607416
CHL1, MOUSE, HOMOLOG OF; CHL1
608014
HEAT-SHOCK 22-KD PROTEIN 8; HSPB8
608685
STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 2; SMC1L2
June 28, 2004
Changed Entries:
109630
BETA-1-ADRENERGIC RECEPTOR; ADRB1
109690
BETA-2-ADRENERGIC RECEPTOR; ADRB2
112500
BRACHYDACTYLY, TYPE A1; BDA1
121011
GAP JUNCTION PROTEIN, BETA-2; GJB2
123831
CYCLIN-DEPENDENT KINASE 5; CDK5
133170
ERYTHROPOIETIN; EPO
140571
HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA
150330
LAMIN A/C; LMNA
151623
LI-FRAUMENI SYNDROME; LFS
168300
PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
176705
PROHIBITIN; PHB
176875
PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA
179511
RAS-ASSOCIATED PROTEIN RAB4; RAB4
193300
VON HIPPEL-LINDAU SYNDROME; VHL
207410
ANTLEY-BIXLER SYNDROME; ABS
211400
BRONCHIECTASIS
232200
GLYCOGEN STORAGE DISEASE I
273800
THROMBASTHENIA OF GLANZMANN AND NAEGELI
300377
DYSTROPHIN; DMD
598500
WOLFRAM SYNDROME, MITOCHONDRIAL FORM
600140
CREB-BINDING PROTEIN; CREBBP
600210
RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3
600211
RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2
600726
INDIAN HEDGEHOG; IHH
601086
LATERALITY DEFECTS, AUTOSOMAL DOMINANT
602055
INSULIN-INDUCED GENE 1; INSIG1
602229
SRY-BOX 10; SOX10
602264
SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN; SPOCK
603967
SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A
605208
SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER
605321
FRONTOOCULAR SYNDROME
605342
PAIRED IMMUNOGLOBULIN-LIKE RECEPTOR, BETA
605476
CENTAURIN, GAMMA-1; CENTG1
605956
CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15
606201
WFS1 GENE; WFS1
607417
MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 2A; MRT2A
607657
CYSTATHIONINE GAMMA-LYASE; CTH
608660
INSULIN-INDUCED GENE 2; INSIG2
June 25, 2004
Changed Entries:
104311
PRESENILIN 1; PSEN1
105650
DIAMOND-BLACKFAN ANEMIA, AUTOSOMAL DOMINANT
106210
ANIRIDIA, TYPE II; AN2
120180
COLLAGEN, TYPE III, ALPHA-1; COL3A1
147370
INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R
156600
MICROCORIA, CONGENITAL
166200
OSTEOGENESIS IMPERFECTA, TYPE I
171400
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2
173110
POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1
176943
FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
178640
SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB
217050
COMPLEMENT COMPONENT 6 DEFICIENCY
232500
GLYCOGEN STORAGE DISEASE IV
273800
THROMBASTHENIA OF GLANZMANN AND NAEGELI
300500
ALBINISM, OCULAR, TYPE I; OA1
311850
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
600159
PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES
601809
SPONDYLOSPINAL THORACIC DYSOSTOSIS
602080
PAGET DISEASE OF BONE; PDB
602544
PARKIN; PARK2
602953
HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 1; HEY1
604674
CARDIOVASCULAR BASIC-LOOP-HELIX FACTOR; CHF1
605802
ZINC FINGER HOMEOBOX 1B; ZFHX1B
606227
MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP
607352
RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 2; RHOBTB2
607397
MELANOCORTIN 2 RECEPTOR; MC2R
608102
CLN5 GENE; CLN5
608287
PROTOCADHERIN 18; PCDH18
608741
SYNAPTOTAGMIN 11; SYT11
608747
INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
608761
SOLUTE CARRIER FAMILY 5 (CHOLINE TRANSPORTER), MEMBER 7; SLC5A7
Clinical Synopsis for
273395
TETRA-AMELIA, AUTOSOMAL RECESSIVE
June 24, 2004
New Entries:
608747
INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
608752
C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 5; C1QTNF5
Clinical Synopsis for
300367
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
Clinical Synopsis for
602475
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
Clinical Synopsis for
605627
CEREBROOCULONASAL SYNDROME
Changed Entries:
102980
ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1
104760
AMYLOID BETA A4 PRECURSOR PROTEIN; APP
120520
MEMBRANE METALLOENDOPEPTIDASE; MME
142711
HISTONE 1, H1B; HIST1H1B
142983
MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1
142986
HOMEOBOX D11; HOXD11
142988
HOMEOBOX D12; HOXD12
146680
INSULIN-DEGRADING ENZYME; IDE
147370
INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R
147440
INSULIN-LIKE GROWTH FACTOR I; IGF1
147683
INTERLEUKIN 13; IL13
149100
KNUCKLE PADS
159970
MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1
243095
MOVED TO 270450
265850
PYGMY
270450
INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
600725
SONIC HEDGEHOG; SHH
601416
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER) MEMBER 7
602341
FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16
602475
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
605627
CEREBROOCULONASAL SYNDROME
605670
LATE-ONSET RETINAL DEGENERATION; LORD
606080
ACIDIC MAMMALIAN CHITINASE
Clinical Synopsis for
109120
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE
Clinical Synopsis for
122430
CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,
Clinical Synopsis for
145001
HYPERPARATHYROIDISM 2; HRPT2
Clinical Synopsis for
147891
SMALL PATELLA SYNDROME; SPS
Clinical Synopsis for
168860
PATELLA APLASIA-HYPOPLASIA; PTLAH
Clinical Synopsis for
194350
WT LIMB-BLOOD SYNDROME
Clinical Synopsis for
249210
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME
Clinical Synopsis for
271960
SUBAORTIC STENOSIS--SHORT STATURE SYNDROME
Clinical Synopsis for
273395
TETRA-AMELIA, AUTOSOMAL RECESSIVE
Clinical Synopsis for
605670
LATE-ONSET RETINAL DEGENERATION; LORD
June 23, 2004
New Entries:
608761
SOLUTE CARRIER FAMILY 5 (CHOLINE TRANSPORTER), MEMBER 7; SLC5A7
Changed Entries:
100650
ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2
106180
ANGIOTENSIN I-CONVERTING ENZYME; ACE
113650
BRANCHIOOTORENAL DYSPLASIA
118800
PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD
120140
COLLAGEN, TYPE II, ALPHA-1; COL2A1
121200
EPILEPSY, BENIGN NEONATAL, 1; EBN1
121201
EPILEPSY, BENIGN NEONATAL, 2; EBN2
151210
THANATOPHORIC DYSPLASIA VARIANTS
176640
PRION PROTEIN; PRNP
182138
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),
182390
SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA-1 SUBUNIT; SCN2A1
183090
SPINOCEREBELLAR ATAXIA 2; SCA2
190180
TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
201910
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
261100
MEGALOBLASTIC ANEMIA 1; MGA1
261640
6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS
269720
EPILEPSY, BENIGN NEONATAL, AUTOSOMAL RECESSIVE
300367
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
309900
MUCOPOLYSACCHARIDOSIS TYPE II
600173
JANUS KINASE 3; JAK3
600705
SATOYOSHI SYNDROME
600802
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE
601093
FORKHEAD BOX I1; FOXI1
601653
EYES ABSENT 1; EYA1
601764
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1
602066
CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;
602081
SPECIFIC LANGUAGE IMPAIRMENT; SLI
602232
POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3; KCNQ3
602997
CUBILIN; CUBN
603728
NUMB, DROSOPHILA, HOMOLOG OF; NUMB
604018
NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL
605004
GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B
605751
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2
605799
AMNIONLESS, MOUSE, HOMOLOG OF; AMN
606052
MOVED TO 607745
606711
SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME
606712
SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME
607134
SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME
607313
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
607745
SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE
607939
SULFATASE-MODIFYING FACTOR 1
608630
ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 3; ROBO3
608662
TRANSMEMBRANE PROTEIN 16E; TMEM16E
Clinical Synopsis for
304110
CRANIOFRONTONASAL SYNDROME; CFNS
Clinical Synopsis for
601216
PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Clinical Synopsis for
607313
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
June 22, 2004
New Entries:
608748
BONE MORPHOGENETIC PROTEIN 10; BMP10
608749
BROMODOMAIN-CONTAINING PROTEIN 4; BRD4
608750
ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3
608751
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8
608753
SEN2, YEAST, HOMOLOG OF
608754
LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5
608755
SEN54, YEAST, HOMOLOG OF
608756
SEN15, YEAST, HOMOLOG OF
608757
CLP1, YEAST, HOMOLOG OF
608758
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10
608759
CYTOGLOBIN; CYGB
608760
APG7-LIKE; APG7L
Clinical Synopsis for
608703
SPINOCEREBELLAR ATAXIA 25; SCA25
Clinical Synopsis for
608709
BARRAQUER-SIMONS SYNDROME
Changed Entries:
102577
ACTIVATOR 1, 37-KD SUBUNIT; RFC4
102579
REPLICATION FACTOR C, 140-KD SUBUNIT; RFC1
102990
MOVED TO 145600
104175
GLYCOPROTEIN ALPHA-GALACTOSYLTRANSFERASE 1; GGTA1
109630
BETA-1-ADRENERGIC RECEPTOR; ADRB1
112410
HYPERTENSION WITH BRACHYDACTYLY
116955
ZINC FINGER PROTEIN 9; ZNF9
118480
MOVED TO 134634
120361
MATRIX METALLOPROTEINASE 9; MMP9
121014
GAP JUNCTION PROTEIN, ALPHA-1; GJA1
134629
FARNESYL DIPHOSPHATE SYNTHASE; FDPS
134631
MOVED TO 134629
134632
MOVED TO 134629
134633
FARNESYLPYROPHOSPHATE SYNTHETASE 3; FPSL3
134634
FARNESYL DIPHOSPHATE SYNTHASE-LIKE 4; FDPSL4
138033
GLUCAGON RECEPTOR; GCGR
143100
HUNTINGTON DISEASE; HD
151680
MOVED TO 269880
154550
MANNOSEPHOSPHATE ISOMERASE; MPI
160781
MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2
160790
MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3
164300
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
176730
INSULIN; INS
176740
PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA
191390
ULCERATIVE COLITIS, SUSCEPTIBILITY TO
210300
MOVED TO 201300
270800
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
272500
MOVED TO 269700
300307
T-BOX 22; TBX22
302920
MOVED TO 305425
303400
CLEFT PALATE, X-LINKED; CPX
305425
FARNESYL DIPHOSPHATE SYNTHASE-LIKE 5; FDPSL5
313700
ANDROGEN RECEPTOR; AR
600404
REPLICATION FACTOR C, SUBUNIT 2; RFC2
600405
REPLICATION FACTOR C, SUBUNIT 3; RFC3
600441
GROWTH ARREST-SPECIFIC 6; GAS6
600584
NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E
600821
ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A
601091
FORKHEAD BOX D1; FOXD1
601092
FORKHEAD BOX D4; FOXD4
601093
FORKHEAD BOX I1; FOXI1
601110
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
601113
HEAT-SHOCK 70-KD PROTEIN 4; HSPA4
601487
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601763
CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8
601933
CRYPTOCHROME 1; CRY1
602021
PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A
602544
PARKIN; PARK2
602579
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
603252
FORKHEAD BOX L1; FOXL1
603887
TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS
604146
SYNAPTOTAGMIN 7; SYT7
604378
BECLIN 1; BECN1
604479
SIRTUIN 1; SIRT1
605346
MOVED TO 176730
605747
ARH GENE; ARH
606228
EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1
606463
GLUCOSIDASE, ACID BETA; GBA
606989
MYELOPEROXIDASE; MPO
607944
COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL
608220
SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25
608706
DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1
608741
SYNAPTOTAGMIN 11; SYT11
608754
LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5
608758
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10
608760
APG7-LIKE; APG7L
Clinical Synopsis for
102990
MOVED TO 145600
Clinical Synopsis for
127750
DEMENTIA, LEWY BODY; DLB
Clinical Synopsis for
151680
MOVED TO 269880
Clinical Synopsis for
172700
PICK DISEASE OF BRAIN
Clinical Synopsis for
210300
MOVED TO 201300
Clinical Synopsis for
272500
MOVED TO 269700
Clinical Synopsis for
302920
MOVED TO 305425
Clinical Synopsis for
305425
FARNESYL DIPHOSPHATE SYNTHASE-LIKE 5; FDPSL5
Clinical Synopsis for
600072
FAMILIAL FATAL INSOMNIA; FFI
Clinical Synopsis for
600274
FRONTOTEMPORAL DEMENTIA
Clinical Synopsis for
601110
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
June 18, 2004
New Entries:
608744
SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER),
608745
SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER),
608746
SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER),
Changed Entries:
107680
APOLIPOPROTEIN A-I; APOA1
120620
COMPLEMENT COMPONENT RECEPTOR 1; CR1
146930
INTERLEUKIN 8; IL8
147050
IgE RESPONSIVENESS, ATOPIC; IGER
151443
LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR
155950
MELORHEOSTOSIS
191740
UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
254780
MYOCLONIC EPILEPSY OF LAFORA
300490
SH2 DOMAIN PROTEIN 1A; SH2D1A
312170
PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1
600296
NATRIURETIC PEPTIDE PRECURSOR C; NPPC
600694
INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST
600807
ASTHMA SUSCEPTIBILITY
600970
MYOSIN VI; MYO6
601156
CHEMOKINE, CC MOTIF, LIGAND 11; CCL11
602322
TELOMERASE RNA COMPONENT; TERC
602495
CHEMOKINE, CC MOTIF, LIGAND 24; CCL24
605100
PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM; PPM1D
606158
BSCL2 GENE; BSCL2
608552
VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B; VPS33B
608623
NEUROECTODERMAL TUMORS, SUPRATENTORIAL PRIMITIVE, WITH CAFE-AU-LAIT
June 17, 2004
New Entries:
300498
MENTAL RETARDATION, X-LINKED 45; MRX45
608740
CALCINEURIN- AND NFAT-ACTIVATING ITAM-CONTAINING PROTEIN
608741
SYNAPTOTAGMIN 11; SYT11
608742
HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4
608743
JP45, MOUSE, HOMOLOG OF
Changed Entries:
107741
APOLIPOPROTEIN E; APOE
109630
BETA-1-ADRENERGIC RECEPTOR; ADRB1
112203
CD80 ANTIGEN; CD80
115200
CARDIOMYOPATHY, DILATED, 1A; CMD1A
145500
HYPERTENSION, ESSENTIAL
163890
SYNUCLEIN, ALPHA; SNCA
168600
PARKINSON DISEASE; PD
171760
ALKALINE PHOSPHATASE, LIVER; ALPL
176807
PROSTATE CANCER
189971
E2F TRANSCRIPTION FACTOR 1; E2F1
208400
ASPARTYLGLUCOSAMINURIA
210900
BLOOM SYNDROME; BLM
300498
MENTAL RETARDATION, X-LINKED 45; MRX45
314998
ZINC FINGER PROTEIN 81; ZNF81
600426
E2F TRANSCRIPTION FACTOR 2; E2F2
602544
PARKIN; PARK2
603779
SYNUCLEIN-ALPHA-INTERACTING PROTEIN; SNCAIP
603918
HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1
604329
HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2
607276
RESTING HEART RATE
607306
STEROID 5-ALPHA-REDUCTASE 2; SRD5A2
608742
HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4
June 16, 2004
New Entries:
608737
RAB11 FAMILY-INTERACTING PROTEIN 1
608738
RAB11 FAMILY-INTERACTING PROTEIN 3
608739
HISTONE mRNA 3-PRIME END-SPECIFIC EXORIBONUCLEASE
Changed Entries:
133435
CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1
192600
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
600664
CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK
601665
OBESITY
601728
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
601937
NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3
603258
INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,
604386
ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1
605394
BTB AND CNC HOMOLOGY 2; BACH2
605536
RAB11-INTERACTING PROTEIN
607129
NEDD9-INTERACTING PROTEIN WITH CALPONIN HOMOLOGY AND LIM DOMAINS;
608010
NPC1-LIKE 1; NPC1L1
608599
RAB11 FAMILY-INTERACTING PROTEIN 2
608706
DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1
608728
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
June 15, 2004
New Entries:
608732
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 8; SLC39A8
608733
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 10; SLC39A10
608734
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 12; SLC39A12
608735
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 13; SLC39A13
608736
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14
Changed Entries:
105400
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
108355
GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2
120150
COLLAGEN, TYPE I, ALPHA-1; COL1A1
142410
TRANSCRIPTION FACTOR 1; TCF1
147450
SUPEROXIDE DISMUTASE 1; SOD1
154050
MAJOR INTRINSIC PROTEIN OF LENS FIBER; MIP
172480
PHOSPHOSERINE PHOSPHATASE; PSPH
176875
PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA
190220
TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2
192240
VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
194050
WILLIAMS-BEUREN SYNDROME; WBS
259420
OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE
314998
ZINC FINGER PROTEIN 81; ZNF81
600003
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2
600281
HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
600300
SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),
600315
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4
600716
PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8
601728
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
602021
PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A
602522
BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
602721
DISRUPTED MEIOTIC cDNA 1, YEAST, HOMOLOG OF; DMC1
604164
ONE CUT DOMAIN, FAMILY MEMBER 1; ONECUT1
605565
RESISTIN; RETN
606986
MOVED TO 600716
608067
CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF
608731
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6
608732
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 8; SLC39A8
June 14, 2004
New Entries:
608729
ANGIOTENSIN II RECEPTOR-ASSOCIATED PROTEIN; AGTRAP
608730
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 5; SLC39A5
608731
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6
Changed Entries:
107730
APOLIPOPROTEIN B; APOB
113505
BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF
123590
CRYSTALLIN, ALPHA-B; CRYAB
131240
ENDOTHELIN 1; EDN1
137760
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG
147380
INHIBIN, ALPHA; INHA
153800
MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
160790
MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3
175200
PEUTZ-JEGHERS SYNDROME; PJS
191170
TUMOR PROTEIN p53; TP53
202300
ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC
209880
AUTONOMIC CONTROL, CONGENITAL FAILURE OF
235730
MOWAT-WILSON SYNDROME
260540
PARKINSON-DEMENTIA SYNDROME
268000
RETINITIS PIGMENTOSA; RP
300000
OPITZ SYNDROME
312610
RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR
314998
ZINC FINGER PROTEIN 81; ZNF81
590045
TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI
600669
EPILEPSY, IDIOPATHIC GENERALIZED; IGE
600837
GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF
602216
SERINE/THREONINE PROTEIN KINASE 11; STK11
603075
MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603851
PAIRED-LIKE HOMEOBOX 2B; PHOX2B
605802
ZINC FINGER HOMEOBOX 1B; ZFHX1B
608728
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
Clinical Synopsis for
183090
SPINOCEREBELLAR ATAXIA 2; SCA2
June 11, 2004
New Entries:
608720
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
608727
DE-ETIOLATED 1, ARABIDOPSIS, HOMOLOG OF
608728
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
Clinical Synopsis for
608720
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
Changed Entries:
108961
NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B; NPR2
127750
DEMENTIA, LEWY BODY; DLB
128200
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC
136533
FORKHEAD BOX O1A; FOXO1A
138275
GLUTAMIC ACID DECARBOXYLASE 2; GAD2
158350
COWDEN DISEASE; CD
162400
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1
163890
SYNUCLEIN, ALPHA; SNCA
165160
V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN
172700
PICK DISEASE OF BRAIN
173393
PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR
181000
SARCOIDOSIS
191342
UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1
208230
ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC
223360
DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH
301500
FABRY DISEASE
516006
COMPLEX I, SUBUNIT ND6; MTND6
535000
LEBER OPTIC ATROPHY
600045
DNA DAMAGE-BINDING PROTEIN 1; DDB1
600179
GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D
600274
FRONTOTEMPORAL DEMENTIA
600300
SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),
600705
SATOYOSHI SYNDROME
600715
THROMBOSPONDIN IV; THBS4
600990
LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE
600993
MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; MADH4
601999
LIM HOMEOBOX GENE 1; LHX1
602109
MATRILIN 3; MATN3
602875
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
603137
CULLIN 4A; CUL4A
603814
RING-BOX 1; RBX1
607485
DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD
607867
RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 1; RCBTB1
607970
G PROTEIN-COUPLED RECEPTOR 135
608067
CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF
608105
EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND
Clinical Synopsis for
128200
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC
Clinical Synopsis for
601764
BENIGN FAMILIAL INFANTILE CONVULSIONS
Clinical Synopsis for
602875
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
Clinical Synopsis for
605751
BENIGN FAMILIAL INFANTILE CONVULSIONS 2
June 10, 2004
New Entries:
608709
BARRAQUER-SIMONS SYNDROME
608722
CAPPING PROTEIN, ALPHA-3; CAPZA3
608723
PHOSPHATASE AND ACTIN REGULATOR 1; PHACTR1
608724
PHOSPHATASE AND ACTIN REGULATOR 2; PHACTR2
608725
PHOSPHATASE AND ACTIN REGULATOR 3; PHACTR3
608726
PHOSPHATASE AND ACTIN REGULATOR 4; PHACTR4
Changed Entries:
102980
ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1
118210
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A
125485
DENTIN SIALOPHOSPHOPROTEIN; DSPP
140100
HAPTOGLOBIN; HP
157140
MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT
162323
TACHYKININ RECEPTOR 1; TACR1
176877
PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 3; PTPN3
176886
PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG
179590
PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF
191170
TUMOR PROTEIN p53; TP53
194363
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4
213300
JOUBERT SYNDROME 1; JBTS1
227400
FACTOR V DEFICIENCY
243910
JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA
260540
PARKINSON-DEMENTIA SYNDROME
274270
DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD
535000
LEBER OPTIC ATROPHY
600267
PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13
600923
PROTOPORPHYRINOGEN OXIDASE; PPOX
601104
SUPRANUCLEAR PALSY, PROGRESSIVE; PSP
601571
CAPPING PROTEIN, ALPHA-2; CAPZA2
601572
CAPPING PROTEIN, BETA; CAPZB
601580
CAPPING PROTEIN, ALPHA-1; CAPZA1
602281
MILK FAT GLOBULE-EGF FACTOR 8; MFGE8
602533
ONCOGENE DJ1
603155
PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 14; PTPN14
603680
SPINOCEREBELLAR ATAXIA 8; SCA8
604254
DYSLEXIA SUSCEPTIBILITY 3; DYX3
605565
RESISTIN; RETN
605909
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
606702
PKHD1 GENE; PKHD1
607100
NEPHROCYSTIN; NPHP1
607601
TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1
608309
PTEN-INDUCED PUTATIVE KINASE 1; PINK1
608507
MITOFUSIN 2; MFN2
608712
PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, T; PTPRT
608725
PHOSPHATASE AND ACTIN REGULATOR 3; PHACTR3
Clinical Synopsis for
605909
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
June 9, 2004
New Entries:
608718
KERATIN-ASSOCIATED PROTEIN 13-1; KRTAP13-1
608719
TR4-ASSOCIATED PROTEIN, 16-KD
608721
CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITORY PROTEIN
Changed Entries:
113100
BRACHYDACTYLY, TYPE C; BDC
121011
GAP JUNCTION PROTEIN, BETA-2; GJB2
125853
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
126060
DIHYDROFOLATE REDUCTASE; DHFR
138252
GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;
138253
GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;
139605
HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 1; HES1
164730
V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1
164731
V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2
176640
PRION PROTEIN; PRNP
190198
NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1
259700
OSTEOPETROSIS, AUTOSOMAL RECESSIVE
270400
SMITH-LEMLI-OPITZ SYNDROME; SLOS
300075
RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3
300394
TAFAZZIN; TAZ
300486
MENTAL RETARDATION, X-LINKED 60, MRX60
302060
BARTH SYNDROME; BTHS
309630
METACARPAL 4-5 FUSION; MF4
313650
TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,
535000
LEBER OPTIC ATROPHY
600210
RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3
601146
GROWTH/DIFFERENTIATION FACTOR 5; GDF5
601539
PEROXISOME BIOGENESIS DISORDERS; PBD
601831
HISTONE 2, H2BE; HIST2H2BE
601959
NEVER IN MITOSIS GENE A-RELATED KINASE 4; NEK4
602136
PEROXISOME BIOGENESIS FACTOR 1; PEX1
602170
MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88
602544
PARKIN; PARK2
602954
RAD51, S. CEREVISIAE, HOMOLOG OF, D; RAD51L3
603028
TOLL-LIKE RECEPTOR 2; TLR2
603030
TOLL-LIKE RECEPTOR 4; TLR4
604064
ACTIVATING TRANSCRIPTION FACTOR 4; ATF4
604260
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B
604263
PRION GENE COMPLEX, DOWNSTREAM; PRND
606604
F-BOX ONLY PROTEIN 32; FBXO32
607649
OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1
608705
INTEGRIN, BETA-1, BINDING PROTEIN OF, 3; ITGB1BP3
Clinical Synopsis for
601104
SUPRANUCLEAR PALSY, PROGRESSIVE; PSP
Clinical Synopsis for
607485
DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD
June 8, 2004
New Entries:
608713
CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1
608714
SYNTROPHIN, GAMMA-1; SNTG1
608715
SYNTROPHIN, GAMMA-2; SNTG2
608716
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5
608717
LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 13; LGALS13
Changed Entries:
102980
ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1
141800
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
141850
HEMOGLOBIN--ALPHA LOCUS 2; HBA2
141900
HEMOGLOBIN--BETA LOCUS; HBB
164210
HEMIFACIAL MICROSOMIA; HFM
175200
PEUTZ-JEGHERS SYNDROME; PJS
187300
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;
190180
TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
251200
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1
274600
PENDRED SYNDROME; PDS
276901
USHER SYNDROME, TYPE IIA; USH2A
600274
FRONTOTEMPORAL DEMENTIA
600584
NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E
600970
MYOSIN VI; MYO6
602216
SERINE/THREONINE PROTEIN KINASE 11; STK11
602544
PARKIN; PARK2
603545
ENLARGED VESTIBULAR AQUEDUCT SYNDROME
605481
ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM
605646
SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4
606346
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22
607117
MCPH1 GENE
608393
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6
608400
USH2A GENE; USH2A
608716
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5
June 7, 2004
New Entries:
608711
CTD SMALL PHOSPHATASE 2; CTDSP2
608712
PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, T; PTPRT
Changed Entries:
118945
CILIARY NEUROTROPHIC FACTOR; CNTF
120150
COLLAGEN, TYPE I, ALPHA-1; COL1A1
157700
MITRAL VALVE PROLAPSE, FAMILIAL; MVP
160900
DYSTROPHIA MYOTONICA 1
175100
ADENOMATOUS POLYPOSIS OF THE COLON; APC
176200
PORPHYRIA VARIEGATA
200110
ABLEPHARON-MACROSTOMIA SYNDROME
228250
FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY
273400
TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND
600725
SONIC HEDGEHOG; SHH
600923
PROTOPORPHYRINOGEN OXIDASE; PPOX
601438
RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE
601731
5-@AMINOIMIDAZOLE-4-CARBOXAMIDE RIBONUCLEOTIDE FORMYLTRANSFERASE/IMP
604292
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
605323
C-TERMINAL DOMAIN OF RNA POLYMERASE II POLYPEPTIDE A, SMALL PHOSPHATASE
607440
FCMD GENE; FCMD
608592
CTD SMALL PHOSPHATASE-LIKE; CTDSPL
June 4, 2004
New Entries:
608703
SPINOCEREBELLAR ATAXIA 25; SCA25
608707
CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON
608708
BROTHER OF CDON
608710
WEGENER GRANULOMATOSIS
Changed Entries:
115470
CAT EYE SYNDROME; CES
122470
CORNELIA DE LANGE SYNDROME; CDLS
127700
DYSLEXIA SUSCEPTIBILITY 1; DYX1
136550
MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1
137580
GILLES DE LA TOURETTE SYNDROME; GTS
153310
CHARCOT-LEYDEN CRYSTAL PROTEIN; CLC
153800
MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
155720
MELANOMA, UVEAL
162200
NEUROFIBROMATOSIS, TYPE I; NF1
164185
OCULAR CICATRICIAL PEMPHIGOID; OCP
170261
TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,
177020
PROTEINASE 3; PRTN3
180072
PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B
193300
VON HIPPEL-LINDAU SYNDROME; VHL
222448
DONNAI-BARROW SYNDROME
258660
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
600110
STARGARDT DISEASE 3; STGD3
600202
DYSLEXIA SUSCEPTIBILITY 2; DYX2
600831
DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1
601680
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B; AMCD2B
601724
NEUROGENIC DIFFERENTIATION 1; NEUROD1
603075
MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
605363
GLUTAMATE DECARBOXYLASE 1; GAD1
606672
GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA
606896
DYSLEXIA SUSCEPTIBILITY 5; DYX5
607093
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
608096
EPILEPSY, FAMILIAL TEMPORAL LOBE
608677
DAPK-INTERACTING PROTEIN 1
608681
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2
608706
DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1
June 3, 2004
New Entries:
608706
DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1
Changed Entries:
102990
MOVED TO 145600
104300
ALZHEIMER DISEASE; AD
114208
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
145600
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
154275
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2
154276
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3
160900
DYSTROPHIA MYOTONICA 1
176640
PRION PROTEIN; PRNP
180901
RYANODINE RECEPTOR 1; RYR1
209900
BARDET-BIEDL SYNDROME; BBS
256000
LEIGH SYNDROME; LS
300461
ORNITHINE CARBAMOYLTRANSFERASE; OTC
312750
RETT SYNDROME; RTT
314200
THYROXINE-BINDING GLOBULIN OF SERUM; TBG
516002
COMPLEX I, SUBUNIT ND3; MTND3
540000
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE
545000
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF
590040
TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH
590060
TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK
590080
TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1
590100
TRANSFER RNA, MITOCHONDRIAL, TYROSINE; MTTY
600072
FAMILIAL FATAL INSOMNIA; FFI
600467
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4
600514
REELIN; RELN
600595
TG737, MOUSE, HOMOLOG OF
600871
GROWTH FACTOR-INDEPENDENT 1; GFI1
601887
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
601888
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6
602196
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES
603646
CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15; COX15
603650
BBS5 GENE; BBS5
603802
MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN
603956
CERVICAL CANCER
604252
BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME; BACE
604386
ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1
606857
GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC
608584
ASTHMA SUSCEPTIBILITY 2
June 3, 2004
New Entries:
608704
NICOTINAMIDE RIBOSIDE KINASE 1
608705
INTEGRIN, BETA-1, BINDING PROTEIN OF, 3; ITGB1BP3
Changed Entries:
100100
ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND
100800
ACHONDROPLASIA; ACH
101600
PFEIFFER SYNDROME
103780
ALCOHOLISM
105650
DIAMOND-BLACKFAN ANEMIA, AUTOSOMAL DOMINANT
106210
ANIRIDIA, TYPE II; AN2
110250
BLOOD GROUP--ABO SUPPRESSOR
110800
BLOOD GROUP--I SYSTEM; Ii
114290
CAMPOMELIC DYSPLASIA
114550
HEPATOCELLULAR CARCINOMA
120900
COMPLEMENT COMPONENT 5 DEFICIENCY
122470
CORNELIA DE LANGE SYNDROME; CDLS
125853
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
129010
EARLY GROWTH RESPONSE 2; EGR2
130080
EHLERS-DANLOS SYNDROME, TYPE VIII
131195
ENDOGLIN; ENG
135100
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
138430
GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; GPD2
139340
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE
139900
HAND SKILL, RELATIVE; HSR
142340
HERNIA, DIAPHRAGMATIC
142360
HEPARIN COFACTOR II; HCF2
145650
HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION
150571
LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2; LGALS2
154500
TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF
163200
NEVUS SEBACEUS OF JADASSOHN
164750
OMPHALOCELE
165240
GLI-KRUPPEL FAMILY MEMBER 3; GLI3
177850
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT; PXE
179800
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
180200
RETINOBLASTOMA; RB1
182820
SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY
182890
SPERM PROTAMINE P2; PRM2
183600
SPLIT-HAND/FOOT MALFORMATION 1; SHFM1
185430
CLUSTERIN; CLU
187300
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;
190160
THYROID HORMONE RECEPTOR, BETA; THRB
191100
TUBEROUS SCLEROSIS; TS
193300
VON HIPPEL-LINDAU SYNDROME; VHL
200990
ACROCALLOSAL SYNDROME; ACLS
202700
NEUTROPENIA, SEVERE CONGENITAL; SCN
211910
CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1
212138
SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER
219700
CYSTIC FIBROSIS; CF
225300
ECTRODACTYLY
228355
FETAL IODINE DEFICIENCY DISORDER; FIDD
228550
FIBROMATOSIS, CONGENITAL GENERALIZED; CGF
230750
GASTROSCHISIS
246570
LIMB DEFICIENCY-HEART MALFORMATION SYNDROME
257320
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
261550
PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS
264800
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE
273300
TESTICULAR TUMORS
300005
METHYL-CpG-BINDING PROTEIN 2; MECP2
300008
CHLORIDE CHANNEL 5; CLCN5
300049
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT
300064
MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM
300367
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
300500
ALBINISM, OCULAR, TYPE I; OA1
304120
OTOPALATODIGITAL SYNDROME, TYPE II; OPD2
304700
MOHR-TRANEBJAERG SYNDROME; MTS
305371
GATA-BINDING PROTEIN 1; GATA1
305550
FINGERPRINT BODY MYOPATHY
305620
FRONTOMETAPHYSEAL DYSPLASIA; FMD
305800
GLOMERULONEPHRITIS, X-LINKED MESANGIOCAPILLARY
306100
GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY
306700
HEMOPHILIA A
307300
HYPOGONADISM, MALE
308240
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED
308300
INCONTINENTIA PIGMENTI; IP
308700
KALLMANN SYNDROME 1; KAL1
308930
LEIGH SYNDROME, X-LINKED
310980
OMPHALOCELE
311300
OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
311895
PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES
312000
PANHYPOPITUITARISM; PHP
312170
PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1
312600
RETINITIS PIGMENTOSA 2; RP2
312750
RETT SYNDROME; RTT
600228
SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA SUBUNIT; SCNN1A
600278
RAP1, GTPase-ACTIVATING PROTEIN 1; RAP1GA1
600376
OSLER-RENDU-WEBER SYNDROME 2; ORW2
600660
MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A
600760
SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B
600761
SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT; SCNN1G
600807
ASTHMA SUSCEPTIBILITY
601284
ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1
601542
PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2
602885
G PROTEIN-COUPLED RECEPTOR 38; GPR38
602886
G PROTEIN-COUPLED RECEPTOR 39; GPR39
602943
RAR-RELATED ORPHAN RECEPTOR C; RORC
605080
CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3
605342
PAIRED IMMUNOGLOBULIN-LIKE RECEPTOR, BETA
605441
ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC
606381
G PROTEIN-COUPLED RECEPTOR 91; GPR91
606582
DELTA-LIKE 1; DLL1
606850
MIRROR-IMAGE POLYDACTYLY GENE 1; MIPOL1
606922
G PROTEIN-COUPLED RECEPTOR 80; GPR80
607258
HYPERCALCIURIA, ABSORPTIVE, 1
607998
CLN2 GENE; CLN2
608537
VHL GENE; VHL
608584
ASTHMA SUSCEPTIBILITY 2
608633
CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12
Clinical Synopsis for
256000
LEIGH SYNDROME; LS
June 1, 2004
Changed Entries:
103000
ADENYLATE KINASE 1; AK1
103020
ADENYLATE KINASE 2; AK2
113520
BRANCHED-CHAIN AMINOTRANSFERASE 1; BCAT1
171760
ALKALINE PHOSPHATASE, LIVER; ALPL
174050
POLYCYSTIC LIVER DISEASE; PCLD
251260
NIJMEGEN BREAKAGE SYNDROME
300005
METHYL-CpG-BINDING PROTEIN 2; MECP2
300196
TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X
305450
FG SYNDROME; FGS1
600075
TATA BOX-BINDING PROTEIN; TBP
600160
CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A
600390
UPSTREAM STIMULATORY FACTOR 2; USF2
600655
EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-2; EEF1B2
600807
ASTHMA SUSCEPTIBILITY
600849
NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1
602667
NBS1 GENE; NBS1
605627
CEREBROOCULONASAL SYNDROME
607136
SPINOCEREBELLAR ATAXIA 17; SCA17
607432
LISSENCEPHALY I; LIS1
608628
TBL1-RELATED PROTEIN 1
608630
RB-INHIBITING GENE 1
608692
BASIC LEUCINE ZIPPER NUCLEAR FACTOR 1; BLZF1
Clinical Synopsis for
117000
CENTRAL CORE DISEASE OF MUSCLE
Clinical Synopsis for
174050
POLYCYSTIC LIVER DISEASE; PCLD
June 1, 2004
New Entries:
608687
SPINOCEREBELLAR ATAXIA 20; SCA20
608691
MAJOR DEPRESSIVE DISORDER 2
608692
BASIC LEUCINE ZIPPER NUCLEAR FACTOR 1; BLZF1
608693
GOLGI REASSEMBLY STACKING PROTEIN 2; GORASP2
608694
ZINC FINGER PROTEIN 622; ZNF622
608695
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 2
608696
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 3
608697
FACTOR IN GERMLINE ALPHA, MOUSE, HOMOLOG OF
608698
DISCOIDIN, CUB, AND LCCL DOMAIN-CONTAINING PROTEIN 2; DCBLD2
608699
BONE MORPHOGENETIC PROTEIN-BINDING ENDOTHELIAL CELL PRECURSOR-DERIVED
608700
NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1
608701
NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 2; NMNAT2
608702
NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 3; NMNAT3
Changed Entries:
100790
ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1
103072
ADENYLATE CYCLASE 1; ADCY1
104300
ALZHEIMER DISEASE; AD
109150
MACHADO-JOSEPH DISEASE; MJD
116860
CEREBRAL CAVERNOUS MALFORMATIONS; CCM
116955
ZINC FINGER PROTEIN 9; ZNF9
121011
GAP JUNCTION PROTEIN, BETA-2; GJB2
122470
CORNELIA DE LANGE SYNDROME 1; CDL1
125310
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
133440
EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E
137750
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1
141900
HEMOGLOBIN--BETA LOCUS; HBB
142100
HEMOGLOBIN--EPSILON LOCUS; HBE1
143100
HUNTINGTON DISEASE; HD
147670
INSULIN RECEPTOR; INSR
158590
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II
159552
MYELOID CELL LEUKEMIA 1; MCL1
163731
NITRIC OXIDE SYNTHASE 1; NOS1
164400
SPINOCEREBELLAR ATAXIA 1; SCA1
164500
SPINOCEREBELLAR ATAXIA 7; SCA7
165170
SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1
166260
GNATHODIAPHYSEAL DYSPLASIA; GDD
174050
POLYCYSTIC LIVER DISEASE; PCLD
179010
PYLORIC STENOSIS, INFANTILE
183086
SPINOCEREBELLAR ATAXIA 6; SCA6
183090
SPINOCEREBELLAR ATAXIA 2; SCA2
190000
TRANSFERRIN; TF
190080
V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
191170
TUMOR PROTEIN p53; TP53
194360
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1
208920
ATAXIA-OCULOMOTOR APRAXIA SYNDROME
209850
AUTISM
211900
CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA
220290
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
223100
HYPOLACTASIA, ADULT TYPE
235200
HEMOCHROMATOSIS; HFE
238350
HYPERLEXIA
600143
CEROID LIPOFUSCINOSIS, NEURONAL 8; CLN8
600354
SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
600409
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD
600516
BCL2 ANTAGONIST KILLER 1; BAK1
600678
MutS, E. COLI, HOMOLOG OF, 6; MSH6
600758
PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2
600970
MYOSIN VI; MYO6
601231
FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1
601756
UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE
602195
HEAT-SHOCK 27-KD PROTEIN 1; HSPB1
602421
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
603202
LACTASE; LCT
603369
CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C
603516
SPINOCEREBELLAR ATAXIA 10; SCA10
604319
TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2
604360
SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11
604373
CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2
605078
TAR DNA-BINDING PROTEIN; TARDBP
605628
HIV-1 TAT-INTERACTING PROTEIN 2, 30-KD; HTATIP2
605875
WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 2; WASF2
605956
CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15
606350
APRATAXIN; APTX
606595
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
606711
SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME
606712
SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME
607025
MATERNAL EMBRYONIC LEUCINE ZIPPER KINASE; MELK
607774
PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 3;
607837
CLN8 GENE; CLN8
608014
HEAT-SHOCK 22-KD PROTEIN 8; HSPB8
608033
NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT
608516
MAJOR DEPRESSIVE DISORDER; MDD
608520
MAJOR DEPRESSIVE DISORDER 1
608634
NEUROPATHY, DISTAL HEREDITARY MOTOR, CAUSED BY MUTATION IN THE HSPB1
608639
PHOSPHATIDYLINOSITOL 4-PHOSPHATE ADAPTOR PROTEIN 2
608648
SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63
608662
TRANSMEMBRANE PROTEIN 16E; TMEM16E
608667
NIPPED-B-LIKE
608693
GOLGI REASSEMBLY STACKING PROTEIN 2; GORASP2
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