PubMed
Nucleotide
Protein
Genome
Structure
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Taxonomy
OMIM
OMIM Update List for December, 1996
Please send your questions to the
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December 31, 1996
Changed Entries:
104225
LOW DENSITY LIPOPROTEIN-RELATED PROTEIN-ASSOCIATED PROTEIN 1; LRPAP1
104614
SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1
107450
INTERFERON (ALPHA, BETA AND OMEGA) RECEPTOR 1; IFNAR1
108345
ARYLAMIDE ACETYLASE 1; AAC1
111200
BLOOD GROUP--LUTHERAN SYSTEM; Lu
112262
BONE MORPHOGENETIC PROTEIN-4; BMP4
113508
TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,
114019
CADHERIN 14; CDH14
138079
GLUCOKINASE; GCK
167409
PAIRED BOX HOMEOTIC GENE 2; PAX2
253300
SPINAL MUSCULAR ATROPHY I; SMA I
253550
SPINAL MUSCULAR ATROPHY II; SMA II
269920
SIALIC ACID STORAGE DISEASE; SIASD
601517
ATAXIN-2; ATX2
December 30, 1996
Changed Entries:
101400
ACROCEPHALOSYNDACTYLY TYPE III
102200
ACROMEGALY
102582
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3
121050
CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
125480
MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL
170100
PEPTIDASE D; PEPD
175200
POLYPOSIS, HAMARTOMATOUS INTESTINAL
186580
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
231670
GLUTARICACIDEMIA I
236250
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE
272750
TAY-SACHS DISEASE, AB VARIANT
276903
MYOSIN VIIA; MYO7A
314670
X-INACTIVATION-SPECIFIC TRANSCRIPT; XIST
600390
UPSTREAM STIMULATORY FACTOR 2; USF2
600923
PROTOPORPHYRINOGEN OXIDASE; PPOX
601430
REGULATOR OF NONSENSE TRANSCRIPTS 1
December 29, 1996
Changed Entries:
102300
ACROMELALGIA, HEREDITARY
106491
ANNEXIN IV; ANX4
107400
PROTEASE INHIBITOR 1 (ANTI-ELASTASE), ALPHA-1-ANTITRYPSIN; PI
108960
NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1
108961
NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B; NPR2
110300
ABO BLOOD GROUP; ABO
111680
RHESUS BLOOD GROUP, D ANTIGEN; RHD
111700
RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE
114180
CALMODULIN 1; CALM1
114205
CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;
114851
CARBOXYPEPTIDASE A3, MAST CELL; CPA3
137580
GILLES DE LA TOURETTE SYNDROME; GTS
156000
MENIERE DISEASE
600131
EPILEPSY, JUVENILE ABSENCE
601011
CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4
601085
ROLANDIC EPILEPSY AND SPEECH DYSPRAXIA
December 27, 1996
Changed Entries:
107776
AQUAPORIN-1; AQP1
118150
MOVED TO 107776
134934
FIBROBLAST GROWTH FACTOR RECEPTOR-3; FGFR3
142360
HEPARIN COFACTOR II; HCF2
151580
MOVED TO 142360
164905
MOVED TO 600326
600326
DEAD/H (ASP-GLU-ALA-ASP/HIS) BOX POLYPEPTIDE 6; DDX6
December 26, 1996
Changed Entries:
107300
ANTITHROMBIN III DEFICIENCY
109270
SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1
112010
BLOOD GROUP--WALDNER TYPE; WD
115665
CATARACT, CONGENITAL, VOLKMANN TYPE; CCV
123660
CRYSTALLIN, GAMMA A; CRYGA
123670
CRYSTALLIN, GAMMA B; CRYGB
123680
CRYSTALLIN, GAMMA C; CRYGC
123690
CRYSTALLIN, GAMMA D; CRYGD
124040
CYTOCHROME P450, SUBFAMILY IIE; CYP2E
134850
FIBRINOGEN--GAMMA POLYPEPTIDE CHAIN; FGG
160760
MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYH7
175700
POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE
176943
PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14
179755
PAPILLARY RENAL CELL CARCINOMA; PRCC
190231
TRANSITION PROTEIN 1; TNP1
190232
TRANSITION PROTEIN 2; TNP2
191045
TROPONIN-T2, CARDIAC; TNNT2
219080
CUSHING DISEASE, ADRENAL
231200
GIANT PLATELET SYNDROME
262875
PLATELET PROSTACYCLIN RECEPTOR DEFECT
268800
SANDHOFF DISEASE
600698
HIGH MOBILITY GROUP PROTEIN ISOFORM I-C; HMGIC
600701
HIGH MOBILITY GROUP PROTEIN ISOFORMS I AND Y; HMGIY
601458
INFLAMMATORY BOWEL DISEASE-2; IBD2
December 23, 1996
New Entries:
601563
HORNS IN SHEEP
601594
JUMONJI
601596
CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING
601598
PROTEIN TYROSINE PHOSPHATASE, RECEPTOR TYPE, DELTA POLYPEPTIDE; PTPRD
Changed Entries:
141900
HEMOGLOBIN--BETA LOCUS; HBB
147440
INSULINLIKE GROWTH FACTOR 1; IGF1
164860
MET PROTO-ONCOGENE; MET
191092
TUBEROUS SCLEROSIS-2; TSC2
191100
TUBEROUS SCLEROSIS-1; TSC1
218800
CRIGLER-NAJJAR SYNDROME
305370
TISSUE INHIBITOR OF METALLOPROTEINASE-1; TIMP1
307030
HYPERGLYCEROLEMIA
600618
ETS VARIANT GENE 6; ETV6
601067
USHER SYNDROME, TYPE ID
601296
RECEPTOR TYROSINE KINASE MuSK
601594
JUMONJI
December 22, 1996
Changed Entries:
Clinical Synopsis for
246490
MOVED TO 266265
December 21, 1996
Changed Entries:
114085
S100 CALCIUM-BINDING PROTEIN A10; S100A10
114110
S100 CALCIUM-BINDING PROTEIN A6; S100A6
123886
S100 CALCIUM-BINDING PROTEIN A9; S100A9
140572
HEAT SHOCK 90-KD PROTEIN, BETA; HSPCB
176940
S100 CALCIUM-BINDING PROTEIN A1; S100A1
176991
S100 CALCIUM-BINDING PROTEIN A5; S100A5
176992
S100 CALCIUM-BINDING PROTEIN A3; S100A3
176993
S100 CALCIUM-BINDING PROTEIN A2; S100A2
246490
MOVED TO 266265
261600
PHENYLKETONURIA; PKU1
266265
LEUKOCYTE ADHESION DEFICIENCY, TYPE II; LAD2
600735
INTERFERON INDUCIBLE PROTEIN, 35-KD; IFP35
601007
LEPTIN RECEPTOR; LEPR
December 20, 1996
New Entries:
601590
ENVOPLAKIN; EVPL
601592
RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43 KD; RAPSN
601593
BRCA1-ASSOCIATED RING DOMAIN 1
Changed Entries:
112262
BONE MORPHOGENETIC PROTEIN-4; BMP4
120470
DELETED IN COLORECTAL CARCINOMA; DCC
135100
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
139150
RAS p21 PROTEIN ACTIVATOR 1; RASA1
139200
GROUP-SPECIFIC COMPONENT; GC
173610
SELECTIN P; SELP
180200
RETINOBLASTOMA; RB1
218340
CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,
223360
DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH
274500
THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIA
274600
THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIB
309548
FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE
600087
TUFTELIN; TUFT1
600993
MOTHERS AGAINST DECAPENTAPLEGIC (DROSOPHILA) HOMOLOG 4; MADH4
600993
MOTHERS AGAINST DECAPENTAPLEGIC (DROSOPHILA) HOMOLOG 4; MADH4
601042
CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE
601366
MOTHERS AGAINST DECAPENTAPLEGIC (DROSOPHILA) HOMOLOG 2; MADH2
601377
MOVED TO 218340
601505
ZINC FINGER PROTEIN-146; ZNF146
601571
CAPPING PROTEIN, MUSCLE Z-LINE, ALPHA 2; CAPZA2
601574
RNA BINDING PROTEIN 56
601575
FOS-LIKE ANTIGEN 2; FOSL2
601576
PROTEIN TYROSINE PHOSPHATASE, RECEPTOR TYPE, SIGMA; PTPRS
601577
PTPRC-ASSOCIATED PROTEIN; PTPRCAP
601578
CYCLIN G; CCNG
601579
ORNITHINE DECARBOXYLASE ANTIZYME; OAZ
601581
NEURONAL CELL ADHESION MOLECULE; NRCAM
601588
EPIDERMAL DIFFERENTIATION COMPLEX; EDC
December 19, 1996
New Entries:
601581
NEURONAL CELL ADHESION MOLECULE; NRCAM
601584
PROTEIN TYROSINE PHOSPHATASE 4A1
601585
PROTEIN TYROSINE PHOSPHATASE 4A2
601587
THYMOSIN BETA 15
601588
Epidermal differentiation complex; EDC
601589
RAS p21 PROTEIN ACTIVATOR; RASA2
601591
PROTEIN KINASE, CYCLIC GMP-DEPENDENT, TYPE II; PRKGR2
Changed Entries:
107741
APOLIPOPROTEIN E; APOE
132350
EPIMORPHIN; EPIM
176640
PRION PROTEIN; PRNP
179615
RECOMBINATION ACTIVATING GENE-1; RAG1
179616
RECOMBINATION ACTIVATING GENE-2; RAG2
256520
NEU-LAXOVA SYNDROME; NLS
259900
OXALOSIS I
308000
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
556500
PARKINSON DISEASE
600014
SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 2; SNF2L2
600015
ANGIOTENSIN II RECEPTOR, VASCULAR TYPE 1B; AGTR1B
December 18, 1996
New Entries:
601559
STUVE-WIEDEMANN SYNDROME
601560
MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE
601561
DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA
601583
WILMS TUMOR SUPPRESSOR LOCUS, CHROMOSOME 7
Changed Entries:
105400
AMYOTROPHIC LATERAL SCLEROSIS; ALS
115660
CATARACT, CONGENITAL, CERULEAN TYPE 1; CCA1
118425
CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1
132350
EPIMORPHIN; EPIM
146740
Fc FRAGMENT OF IgG, LOW AFFINITY IIIa, RECEPTOR FOR; FCGR3A
159440
MYELIN PROTEIN ZERO; MPZ
180660
POLYMERASE II, RNA, POLYPEPTIDE A; POLR2A
211600
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1
307810
HYPOPHOSPHATEMIA, HEREDITARY, TYPE II
312800
SACRAL DEFECT WITH ANTERIOR SACRAL MENINGOCELE
600002
EIKEN SKELETAL DYSPLASIA
600089
PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
600095
SPLIT-HAND/FOOT MALFORMATION, TYPE 3; SHFM3
600109
PROXIMAL MYOTONIC MYOPATHY; PROMM
600157
ADAPTIN, BETA 1; ADTB1
600175
SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES
600185
BREAST CANCER 2, EARLY-ONSET; BRCA2
600217
LISSENCEPHALY GENE 2; LIS2
600274
DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX; DDPAC
600309
ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
600383
MESOMELIA-SYNOSTOSES SYNDROME
600416
SCAPULOHUMERAL MUSCULAR DYSTROPHY
600510
GLAUCOMA, PIGMENT-DISPERSION TYPE
600512
EPILEPSY, PARTIAL; EPT
600593
CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA
600593
CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA
600627
HYPERTRYPTOPHANEMIA, FAMILIAL
600721
D-2-@HYDROXYGLUTARIC ACIDURIA
600771
FAMILIAL DWARFISM WITH MUSCLE SPASMS
600858
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE
600886
HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS
600907
ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS
600964
REFSUM DISEASE WITH INCREASED PIPECOLICACIDEMIA; RDPA
600987
CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES
600989
INFUNDIBULOPELVIC DYSGENESIS
601042
CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE
601085
ROLANDIC EPILEPSY AND SPEECH DYSPRAXIA
601134
INTEGRAL TRANSMEMBRANE PROTEIN 1; ITM1
601152
PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
601170
CONGENITAL MUSCULAR DYSTROPHY, SEVERE CENTRAL NERVOUS SYSTEM ATROPHY,
601214
NAXOS DISEASE
601238
CEREBELLAR ATAXIA, CAYMAN TYPE
601313
POLYCYSTIC KIDNEY DISEASE 1; PKD1
601456
ENDOTHELIAL CELL MULTIMERIN
601567
LECTIN, MANNOSE-BINDING, 1; LMAN1
December 17, 1996
New Entries:
601546
HOMEO BOX GENE PROX1
601547
CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2
601566
INHIBITOR OF GROWTH 1; ING1
601568
ADDUCIN-LIKE; ADDL
601582
SH2-CONTAINING INOSITOL PHOSPHATASE
Clinical Synopsis for
300067
LISSENCEPHALY, X-LINKED; LISX
Changed Entries:
100800
ACHONDROPLASIA; ACH
120140
COLLAGEN, TYPE II, ALPHA-1 CHAIN; COL2A1
126255
DISTAL-LESS HOMEO BOX GENE 2; DLX2
137070
FUSION, DERIVED FROM t(12;16) MALIGNANT LIPOSARCOMA; FUS
139320
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING POLYPEPTIDE;
155555
MELANOCORTIN-1 RECEPTOR; MC1R
155555
MELANOCORTIN-1 RECEPTOR; MC1R
180072
PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B
180660
POLYMERASE II, RNA, POLYPEPTIDE A; POLR2A
216400
COCKAYNE SYNDROME, TYPE I; CKN1
261600
PHENYLKETONURIA; PKU1
276901
USHER SYNDROME, TYPE II; USH2
300067
LISSENCEPHALY, X-LINKED; LISX
308380
INTERLEUKIN-2 RECEPTOR, GAMMA; IL2RG
600040
BCL2-ASSOCIATED X PROTEIN; BAX
600157
ADAPTIN, BETA, 1; ADTB1
600267
PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, 13; PTPN13
600400
PROLYL ENDOPEPTIDASE; PREP
600945
UROCORTIN
601105
CATHEPSIN K; CTSK
601105
CATHEPSIN K; CTSK
601145
STEFIN B; STFB
601275
GLYCOPROTEIN M6A; GPM6A
601275
GLYCOPROTEIN M6A; GPM6A
601562
PROTEIN INHIBITOR OF NEURONAL NOS
601567
LECTIN, MANNOSE-BINDING, 1; LMAN1
601568
ADDUCIN-LIKE; ADDL
601572
CAPPING PROTEIN, MUSCLE Z-LINE, BETA; CAPZB
Clinical Synopsis for
600102
MOVED TO 300067
December 16, 1996
New Entries:
601571
CAPPING PROTEIN, MUSCLE Z-LINE, ALPHA 2; CAPZA2
601572
CAPPING PROTEIN, MUSCLE Z-LINE, BETA; CAPB
601573
ENHANCER OF ZESTE (DROSOPHILA) HOMOLOG 2; EZH2
601574
RNA BINDING PROTEIN 56
601575
FOS-RELATED ANTIGEN 2; FRA2
601576
PROTEIN TYROSINE PHOSPHATASE, RECEPTOR TYPE, SIGMA; PTPRS
601577
PTPRC-ASSOCIATED PROTEIN; PTPRCAP
601578
CYCLIN G; CCNG
601579
ORNITHINE DECARBOXYLASE ANTIZYME; OAZ
601580
CAPPING PROTEIN, MUSCLE Z-LINE, ALPHA 1; CAPZA1
Changed Entries:
100650
ALDEHYDE DEHYDROGENASE-2; ALDH2
100725
CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE
101850
ACROKERATOELASTOIDOSIS; AKE
102776
ADENOSINE A2 RECEPTOR; ADORA2A
102981
ADENYLATE CYCLASE ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1
106210
ANIRIDIA, TYPE II; AN2
107266
ANTIGEN CD22
107730
APOLIPOPROTEIN B; APOB
107741
APOLIPOPROTEIN E; APOE
107741
APOLIPOPROTEIN E; APOE
108000
ARTERIES, ANOMALIES OF
108730
ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH; ATP2A1
109691
BETA-3-ADRENERGIC RECEPTOR; ADRB3
111500
BLOOD GROUP--PRIVATE SYSTEMS
112410
BRACHYDACTYLY WITH HYPERTENSION
112500
BRACHYDACTYLY, TYPE A1; BDA1
112600
BRACHYDACTYLY, TYPE A2; BDA2
112700
BRACHYDACTYLY, TYPE A3; BDA3
112800
BRACHYDACTYLY, TYPE A4; BDA4
112910
BRACHYDACTYLY, TYPE A6; BDA6
113000
BRACHYDACTYLY, TYPE B; BDB
113100
BRACHYDACTYLY, TYPE C; BDC
113200
BRACHYDACTYLY, TYPE D; BDD
113620
BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE
114500
CANCER OF COLON
116899
CYCLIN-DEPENDENT INHIBITOR 1A; CDKN1A
116952
CELL DIVISION CYCLE 42; CDC42
118425
CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1
118485
CYTOCHROME P450, SUBFAMILY XIA; CYP11A
120180
COLLAGEN, TYPE III; COL3A1
120190
COLLAGEN, TYPE V, ALPHA-2 CHAIN; COL5A2
120470
DELETED IN COLORECTAL CARCINOMA; DCC
121400
CORNEA PLANA 1; CNA1
121800
CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
123580
CRYSTALLIN, ALPHA A; CRYAA
123590
CRYSTALLIN, ALPHA B; CRYAB
123610
CRYSTALLIN, BETA A1; CRYBA1
123620
CRYSTALLIN, BETA B2; CRYBB2
123630
CRYSTALLIN, BETA B3; CRYBB3
123631
CRYSTALLIN, BETA A4; CRYBA4
123864
CYTOCHROME c OXIDASE, SUBUNIT IV; COX4
125480
MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL
125850
DIABETES MELLITUS, AUTOSOMAL DOMINANT
126375
DNA METHYLTRANSFERASE; DNMT
128990
EARLY GROWTH RESPONSE-1; EGR1
129500
ECTODERMAL DYSPLASIA, HIDROTIC
131960
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
133450
EWING SARCOMA; EWS
133530
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
133780
EXUDATIVE VITREORETINOPATHY, FAMILIAL; EVR
134370
H FACTOR 1; HF1
134790
FERRITIN LIGHT CHAIN; FTL
134934
FIBROBLAST GROWTH FACTOR RECEPTOR-3; FGFR3
135100
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
136515
FOS-LIKE ANTIGEN 1; FOSL1
137070
FUS GENE; FUS
138079
GLUCOKINASE; GCK
138420
GLYCEROL-3-PHOSPHATE DEHYDROGENASE-1; GPD1
138430
GLYCEROL-3-PHOSPHATE DEHYDROGENASE-2; GPD2
139320
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING POLYPEPTIDE;
140090
MOVED TO 189903
141850
HEMOGLOBIN--ALPHA LOCUS-2; HBA2
142250
HEMOGLOBIN, GAMMA G; HBG2
142409
HEPATOCYTE GROWTH FACTOR; HGF
142410
TRANSCRIPTION FACTOR 1, HEPATIC; TCF1
142410
TRANSCRIPTION FACTOR 1, HEPATIC; TCF1
142925
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, H (PSEUDOGENE); HLA-H
146000
HYPOCHONDROPLASIA
146500
HYPOTENSION, ORTHOSTATIC
147020
IMMUNOGLOBULIN: HEAVY Mu CHAIN; Mu1; IGHM1
147650
ISOCITRIC DEHYDROGENASE 2 (NADP+), MITOCHONDRIAL; IDH2
147678
INTERLEUKIN-1-BETA CONVERTASE; IL1BC
147791
JACOBSEN SYNDROME; JBS
148500
KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
148600
KERATOSIS PALMOPLANTARIS PAPULOSA
148600
KERATOSIS PALMOPLANTARIS PAPULOSA
152690
THYROID AUTOANTIGEN 70 KD; G22P1
152690
THYROID AUTOANTIGEN 70 KD; G22P1
152700
LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE
153615
CAPPING PROTEIN, GELSOLIN-LIKE; CAPG
153700
VITELLIFORM MACULAR DYSTROPHY; VMD2
154700
MARFAN SYNDROME; MFS
155555
MELANOCORTIN-1 RECEPTOR; MC1R
155555
MELANOCORTIN-1 RECEPTOR; MC1R
159440
MYELIN PROTEIN ZERO; MPZ
162150
NEUROENDOCRINE CONVERTASE 1; NEC1
162200
NEUROFIBROMATOSIS, TYPE I; NF1
162300
NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS
162300
NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS
162640
NEUROPEPTIDE Y; NPY
162800
NEUTROPENIA, CYCLIC
164018
MOVED TO 600124
164019
MOVED TO 600124
164019
MOVED TO 600124
164020
NUCLEAR RIBONUCLEOPROTEIN PARTICLE C1 PROTEIN
164160
OBESITY; OBS
164200
OCULODENTODIGITAL DYSPLASIA; ODDD
164342
OLFACTORY RECEPTOR 1; OLFR1
164400
SPINOCEREBELLAR ATAXIA 1; SCA1
164500
OLIVOPONTOCEREBELLAR ATROPHY III
164860
MET PROTO-ONCOGENE; MET
165720
OSTEOARTHROSIS, PRECOCIOUS; OAP
167409
PAIRED BOX HOMEOTIC GENE 2; PAX2
167870
PANIC DISORDER
168468
PARATHYROID HORMONE RECEPTOR 1; PTHR1
170993
PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3
170993
PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3
172490
PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB
173910
POLYCYSTIC KIDNEY DISEASE 2; PKD2
175700
POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE
175860
POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP
176261
POTASSIUM VOLTAGE-GATED CHANNEL, ISK-RELATED SUBFAMILY, MEMBER 1;
179605
RDS PROTEIN, HUMAN EQUIVALENT OF
180500
RIEGER SYNDROME; RIEG
180500
RIEGER SYNDROME, TYPE 1; RIEG1
180500
RIEGER SYNDROME, TYPE 1; RIEG1
180500
RIEGER SYNDROME, TYPE 1; RIEG1
180660
POLYMERASE II, RNA, POLYPEPTIDE A; POLR2A
182138
SOLUTE CARRIER FAMILY 6, MEMBER 4; SLC6A4
182380
SOLUTE CARRIER FAMILY 5, MEMBER 1; SLC5A1
182455
SOMATOSTATIN RECEPTOR-5; SSTR5
183090
SPINOCEREBELLAR ATAXIA 2; SCA2
186975
T-COMPLEX-ASSOCIATED-TESTES-EXPRESSED 1; TCTE1
186977
T-COMPLEX-ASSOCIATED-TESTES-EXPRESSED 3; TCTE3
187950
THROMBOCYTHEMIA, ESSENTIAL
189901
TRANSCRIPTION FACTOR 9; TCF9
189972
GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 1; GTF2H1
191092
TUBEROUS SCLEROSIS-2; TSC2
191100
TUBEROUS SCLEROSIS-1; TSC1
193300
VON HIPPEL-LINDAU SYNDROME; VHL
194364
X-RAY-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER 5; XRCC5
194364
X-RAY-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER 5; XRCC5
200350
ACETYL-CoA CARBOXYLASE DEFICIENCY
200350
ACETYL-CoA CARBOXYLASE DEFICIENCY
201910
ADRENAL HYPERPLASIA III
202110
ADRENAL HYPERPLASIA V
202200
ADRENAL UNRESPONSIVENESS TO ACTH
204000
AMAUROSIS CONGENITA OF LEBER I
204000
AMAUROSIS CONGENITA OF LEBER I
208900
ATAXIA-TELANGIECTASIA; AT
209750
MOVED TO 209950
209950
ATYPICAL MYCOBACTERIOSIS, FAMILIAL
211600
BYLER DISEASE
211980
CANCER OF LUNG
213700
CEREBRAL CHOLESTERINOSIS
216400
COCKAYNE SYNDROME, TYPE I; CKN1
218340
CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,
223330
DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT
227400
FACTOR V DEFICIENCY
227500
FACTOR VII DEFICIENCY
227500
FACTOR VII DEFICIENCY
227650
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FACA
230200
GALACTOKINASE DEFICIENCY
231300
GLAUCOMA3, PRIMARY INFANTILE, A; GLC3A
231690
GLUTARYL-CoA OXIDASE DEFICIENCY
233420
GONADAL DYSGENESIS, XY TYPE
234200
HALLERVORDEN-SPATZ DISEASE
235200
HEMOCHROMATOSIS; HFE
235200
HEMOCHROMATOSIS; HFE
236200
HOMOCYSTINURIA
236250
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE
241410
HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES
245050
KETOACIDOSIS OF INFANCY
247200
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
252900
MUCOPOLYSACCHARIDOSIS TYPE IIIA
253300
SPINAL MUSCULAR ATROPHY I; SMA I
256030
NEMALINE MYOPATHY
256300
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1
256520
NEU-LAXOVA SYNDROME; NLS
258100
OGUCHI DISEASE
259700
OSTEOPETROSIS
263200
POLYCYSTIC KIDNEY AND HEPATIC DISEASE-1; PKHD1
265800
PYCNODYSOSTOSIS
266600
REGIONAL ENTERITIS
267700
RETICULOSIS, FAMILIAL HISTIOCYTIC
269700
SEIP SYNDROME
269700
SEIP SYNDROME
273800
THROMBASTHENIA OF GLANZMANN AND NAEGELI
275200
THYROTROPIN, UNRESPONSIVENESS TO
276000
TRYPSINOGEN DEFICIENCY
276901
USHER SYNDROME, TYPE II; US2; USH2; USH2A
277900
WILSON DISEASE; WND
278740
XERODERMA PIGMENTOSUM V; XP5
278740
XERODERMA PIGMENTOSUM V; XP5
300006
CALTRACTIN; CALT
300066
DEAFNESS, X-LINKED, 6, PROGRESSIVE; DFN6
300300
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK
301500
ANGIOKERATOMA, DIFFUSE
305000
DYSKERATOSIS CONGENITA; DKC
305900
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
307800
HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS; HYP
307810
HYPOPHOSPHATEMIA, HEREDITARY, TYPE II
307810
HYPOPHOSPHATEMIA, HEREDITARY, TYPE II
308100
ICHTHYOSIS, X-LINKED
311250
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
311770
PHOSPHATIDYLINOSITOL GLYCAN CLASS A; PIGA
312600
RETINITIS PIGMENTOSA-2; RP2
312750
RETT SYNDROME; RTT
312865
SHORT STATURE; SS
314200
THYROXINE-BINDING GLOBULIN OF SERUM; TBG
400004
RETINITIS PIGMENTOSA, Y-LINKED
600040
BCL2-ASSOCIATED X PROTEIN; BAX
600045
DNA DAMAGE-BINDING PROTEIN;DDB1
600077
SCHOPF-SCHULZ-PASSARGE SYNDROME
600124
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRPA2B1
600124
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRPA2B1
600163
SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA POLYPEPTIDE; SCN5A
600179
GUANYLATE CYCLASE 2D, MEMBRANE; GUC2D
600179
GUANYLATE CYCLASE 2D, MEMBRANE; GUC2D
600185
BREAST CANCER 2, EARLY-ONSET; BRCA2
600192
SYNOVIAL SARCOMA, TRANSLOCATED TO X CHROMOSOME; SSXT
600217
LISSENCEPHALY GENE 2; LIS2
600266
NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN; NRAMP1
600281
TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14
600308
AQUAPORIN-4; AQP4
600313
MOVED TO 600535
600353
S100 CALCIUM-BINDING PROTEIN A7; S100A7
600371
VIGILIN; VGL
600414
PEROXISOME RECEPTOR 1; PXR1
600414
PEROXISOME RECEPTOR 1; PXR1
600474
PEPTIDE ANTIBIOTIC, PR-39 (PORCINE) HOMOLOG; FALL39
600496
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
600535
MESENCHYME HOMEO BOX 2; MEOX2
600535
MESENCHYME HOMEO BOX 2; MEOX2
600759
ALZHEIMER DISEASE, FAMILIAL, TYPE 4; AD4
600781
PEPTIDE YY; PYY
600792
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE, 5; DFNB5
600811
DNA DAMAGE-BINDING PROTEIN-2; DDB2
600820
ARCHAIN 1; ARCN1
600833
TUMOR SUPPRESSOR GENE, CHROMOSOME 7; TSG7
600836
CRYSTALLIN, BETA A2; CRYBA2
600836
CRYSTALLIN, BETA A2; CRYBA2
600839
SOLUTE CARRIER FAMILY 12, MEMBER 1; SLC12A1
600920
MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION
600929
CRYSTALLIN, BETA B1; CRYBB1
600932
G-PROTEIN-COUPLED INWARD RECTIFIER POTASSIUM CHANNEL
600932
G-PROTEIN-COUPLED INWARD RECTIFIER POTASSIUM CHANNEL
600935
POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8
600935
POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8
600945
UROCORTIN
600961
MOVED TO 601498
600966
LETHAL GIANT LARVAE (DROSOPHILA) HOMOLOG; LLGL
600968
SOLUTE CARRIER FAMILY 12, MEMBER 3; SLC12A3
600971
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE, 6; DFNB6
600972
ACHONDROGENESIS, TYPE IB; ACG1B
600992
ANOPHTHALMIA AND ESOPHAGEAL ATRESIA
601007
LEPTIN RECEPTOR; LEPR
601028
SURFACE ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY 1D8; MER6
601042
CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE
601140
PHOSPHOLIPASE C-BETA-3 NEIGHBORING GENE
601309
PATCHED (DROSOPHILA) HOMOLOG; PTCH
601313
POLYCYSTIC KIDNEY DISEASE 1; PKD1
601340
MELANOMA-INHIBITORY ACTIVITY