PubMed
Nucleotide
Protein
Genome
Structure
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OMIM
OMIM Update List for September, 2009
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September 30, 2009
New Entries:
613041
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A1; FAM90A1
613042
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A3; FAM90A3
613043
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A5; FAM90A5
613044
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A7; FAM90A7
613045
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A8; FAM90A8
613046
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A9; FAM90A9
613047
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A10; FAM90A10
613048
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A12; FAM90A12
613049
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A13; FAM90A13
613050
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A14; FAM90A14
613051
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A15; FAM90A15
613052
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A18; FAM90A18
613053
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A19; FAM90A19
613054
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A20; FAM90A20
613055
ATRIAL FIBRILLATION, FAMILIAL, 8; ATFB8
613056
LUC7, S. CEREVISIAE, HOMOLOG OF, 2; LUC7L2
Changed Entries:
100070
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
104155
ZINC FINGER HOMEOBOX 3; ZFHX3
130050
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
171050
ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1
176267
POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER
194190
WOLF-HIRSCHHORN SYNDROME; WHS
254900
ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF
600584
NK2 HOMEOBOX 5; NKX2-5
601542
PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2
601937
NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3
602257
SCAVENGER RECEPTOR CLASS B, MEMBER 2; SCARB2
602421
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
602952
WOLF-HIRSCHHORN SYNDROME CANDIDATE 1; WHSC1
604280
PLEXIN A4; PLXNA4
605129
PROTEASOME ACTIVATOR SUBUNIT 3; PSME3
605326
TAX1-BINDING PROTEIN 1; TAX1BP1
605790
SERINE/THREONINE KINASE 31; STK31
608466
ACTIVATOR OF HEAT-SHOCK 90-KD PROTEIN ATPase 1; AHSA1
608583
ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1
610064
OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1
611494
ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5
612192
ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF; ZFP57
613042
FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A3; FAM90A3
September 29, 2009
New Entries:
613040
COILED-COIL DOMAIN-CONTAINING PROTEIN 26; CCDC26
Changed Entries:
109150
MACHADO-JOSEPH DISEASE; MJD
114500
COLORECTAL CANCER; CRC
115150
CARDIOFACIOCUTANEOUS SYNDROME
119530
OROFACIAL CLEFT 1; OFC1
137800
GLIOMA SUSCEPTIBILITY 1; GLM1
140560
HEAT-SHOCK 70-KD PROTEIN 2; HSPA2
162830
NEUTROPHILIA, HEREDITARY
164757
V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF
188450
THYROGLOBULIN; TG
188550
THYROID CARCINOMA, PAPILLARY
603470
ARGININOSUCCINATE SYNTHETASE 1; ASS1
606079
CD163 ANTIGEN-LIKE 1; CD163L1
606427
ZINC FINGER PROTEIN 320; ZNF320
608044
SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8
608537
VHL GENE; VHL
608640
ZINC FINGER PROTEIN 461; ZNF461
613011
LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1
613025
SCHIZOPHRENIA 13; SCZD13
613030
GLIOMA SUSCEPTIBILITY 5; GLM5
613032
GLIOMA SUSCEPTIBILITY 7; GLM7
613036
PEPTIDASE, MITOCHONDRIAL PROCESSING, ALPHA; PMPCA
613037
INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD; INPP5E
613039
CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1-LIKE; CHD1L
613040
COILED-COIL DOMAIN-CONTAINING PROTEIN 26; CCDC26
September 28, 2009
New Entries:
613036
PEPTIDASE, MITOCHONDRIAL PROCESSING, ALPHA; PMPCA
613037
INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD; INPP5E
613039
CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1-LIKE; CHD1L
Changed Entries:
102610
ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1
120180
COLLAGEN, TYPE III, ALPHA-1; COL3A1
122455
CORONARY ARTERY DISSECTION, SPONTANEOUS
130050
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
135580
FIBROMUSCULAR DYSPLASIA OF ARTERIES
136352
FMS-LIKE TYROSINE KINASE 4; FLT4
138971
COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R
146680
INSULIN-DEGRADING ENZYME; IDE
153100
LYMPHEDEMA, HEREDITARY, IA
161800
NEMALINE MYOPATHY 3; NEM3
162830
NEUTROPHILIA, HEREDITARY
188450
THYROGLOBULIN; TG
188470
THYROID CARCINOMA, FOLLICULAR; FTC
190990
TROPOMYOSIN 2; TPM2
274700
THYROID DYSHORMONOGENESIS 3; TDH3
600533
VANG-LIKE 2; VANGL2
601802
HOMEOBOX GENE EXPRESSED IN ES CELLS; HESX1
603131
PEPTIDASE, MITOCHONDRIAL PROCESSING, BETA; PMPCB
607861
DAPPER, ANTAGONIST OF BETA-CATENIN, 1; DACT1
609285
NEMALINE MYOPATHY 4; NEM4
611102
DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY
September 25, 2009
New Entries:
613026
CHROMOSOME 19q13.11 DELETION SYNDROME
613028
GLIOMA SUSCEPTIBILITY 2; GLM2
613029
GLIOMA SUSCEPTIBILITY 3; GLM3
613030
GLIOMA SUSCEPTIBILITY 5; GLM5
613031
GLIOMA SUSCEPTIBILITY 6; GLM6
613032
GLIOMA SUSCEPTIBILITY 7; GLM7
613033
GLIOMA SUSCEPTIBILITY 8; GLM8
613034
DURSUN SYNDROME
Clinical Synopsis for
611225
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE
Clinical Synopsis for
612447
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
Clinical Synopsis for
612530
HOLOPROSENCEPHALY 10; HPE10
Clinical Synopsis for
612840
LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3
Clinical Synopsis for
612913
OROFACIODIGITAL SYNDROME XI; OFD11
Clinical Synopsis for
613034
DURSUN SYNDROME
Changed Entries:
100070
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
120180
COLLAGEN, TYPE III, ALPHA-1; COL3A1
130050
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
137800
GLIOMA SUSCEPTIBILITY 1; GLM1
157170
HOLOPROSENCEPHALY 2; HPE2
236100
HOLOPROSENCEPHALY
251800
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS
276300
MISMATCH REPAIR CANCER SYNDROME
300783
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A4; CT47A4
300784
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A5; CT47A5
300785
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A6; CT47A6
300786
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A7; CT47A7
300787
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A8; CT47A8
300788
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A9; CT47A9
300789
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A10; CT47A10
600185
BRCA2 GENE; BRCA2
600259
POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2
600674
MICROTIA-ANOTIA
601487
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601728
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
606847
TCOF1 GENE; TCOF1
607248
GLIOMA SUSCEPTIBILITY 4; GLM4
609781
MOVED TO 100070
609782
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 2
611891
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3
612001
CHROMOSOME 15q13.3 MICRODELETION SYNDROME
612447
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
612530
HOLOPROSENCEPHALY 10; HPE10
612913
OROFACIODIGITAL SYNDROME XI; OFD11
612918
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL
613034
DURSUN SYNDROME
Clinical Synopsis for
218040
COSTELLO SYNDROME
Clinical Synopsis for
225300
SPLIT-HAND/FOOT MALFORMATION 6; SHFM6
Clinical Synopsis for
244300
KAPUR-TORIELLO SYNDROME
Clinical Synopsis for
247420
LUTHERAN NULL
Clinical Synopsis for
252011
MITOCHONDRIAL COMPLEX II DEFICIENCY
Clinical Synopsis for
601378
CRISPONI SYNDROME
Clinical Synopsis for
609049
PIERSON SYNDROME
Clinical Synopsis for
610250
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31
September 24, 2009
Changed Entries:
114480
BREAST CANCER
118511
CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7
138160
SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
142409
HEPATOCYTE GROWTH FACTOR; HGF
154500
TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF
192350
VATER ASSOCIATION
205950
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
227810
FANCONI-BICKEL SYNDROME; FBS
256700
NEUROBLASTOMA, SUSCEPTIBILITY TO
300559
GLYCOGEN STORAGE DISEASE, TYPE IXd
311870
PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1
313400
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
602424
DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1
604827
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7
605995
KINESIN FAMILY MEMBER 1B; KIF1B
606847
TCOF1 GENE; TCOF1
607326
SMITH-MCCORT DYSPLASIA; SMC
607461
DYMECLIN; DYM
609756
CHRNA7/FAM7A FUSION GENE; CHRFAM7A
610569
UBIQUITIN-SPECIFIC PROTEASE 24; USP24
613013
NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2
613014
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3
613015
NEUROBLASTOMA, SUSCEPTIBILITY TO, 4; NBLST4
613016
NEUROBLASTOMA, SUSCEPTIBILITY TO, 5; NBLST5
613017
NEUROBLASTOMA, SUSCEPTIBILITY TO, 6; NBLST6
613022
OXOGLUTARATE DEHYDROGENASE; OGDH
613023
CENTROSOMAL PROTEIN, 170-KD; CEP170
613024
FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1; FL1
613025
SCHIZOPHRENIA 13; SCZD13
September 23, 2009
New Entries:
613011
LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1
Changed Entries:
117100
CENTRALOPATHIC EPILEPSY
120220
COLLAGEN, TYPE VI, ALPHA-1; COL6A1
154230
46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH 9p24.3 DELETION
155600
MELANOMA, CUTANEOUS MALIGNANT; CMM
158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
180240
RETINOIC ACID RECEPTOR, ALPHA; RARA
186760
ANTIGEN CD28; CD28
186973
IL2-INDUCIBLE T-CELL KINASE; ITK
204700
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1
253260
BIOTINIDASE DEFICIENCY
271665
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
300300
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK
306700
HEMOPHILIA A
600262
PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2
600554
INTERLEUKIN 15; IL15
600571
RE1-SILENCING TRANSCRIPTION FACTOR; REST
602424
DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1
604958
ACTIN-LIKE 6A; ACTL6A
606021
PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA; PRAME
607428
KIN OF IRRE-LIKE; KIRREL
607761
KIN OF IRRE-LIKE 3; KIRREL3
607762
KIN OF IRRE-LIKE 2; KIRREL2
608045
REPRESSOR OF TELOMERASE EXPRESSION 1
609327
MICRO RNA 124-1; MIR124-1
611186
MICRO RNA 9-1; MIRN9-1
611451
DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
612001
CHROMOSOME 15q13.3 MICRODELETION SYNDROME
612348
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN
612414
LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE; LRTOMT
612529
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2
613020
CATARACT, AGE-RELATED CORTICAL, 2; ARCC2
September 22, 2009
Changed Entries:
109770
CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1
131550
EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR
142763
H2A HISTONE FAMILY, MEMBER Z; H2AFZ
147796
JANUS KINASE 2; JAK2
171000
PEYRONIE DISEASE
176803
PROSTAGLANDIN D2 SYNTHASE, BRAIN; PTGDS
181500
SCHIZOPHRENIA; SCZD
187500
TETRALOGY OF FALLOT
209850
AUTISM
211980
LUNG CANCER
259900
HYPEROXALURIA, PRIMARY, TYPE I
273300
TESTICULAR TUMORS
300502
PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1
306400
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD
308100
ICHTHYOSIS, X-LINKED; XLI
313430
SRY-BOX 3; SOX3
480000
SEX-DETERMINING REGION Y; SRY
600309
ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
601128
H3 HISTONE, FAMILY 3A; H3F3A
602482
AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3
602598
PROSTAGLANDIN D2 SYNTHASE, HEMATOPOIETIC; HPGDS
604285
ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT
604296
GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR
604629
MATRIX METALLOPROTEINASE 20; MMP20
606521
SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL THIAMINE PYROPHOSPHATE CARRIER),
607196
MICROCEPHALY, AMISH TYPE; MCPHA
608160
SRY-BOX 9; SOX9
610441
TESTICULAR MICROLITHIASIS
610501
NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 1; NBPF1
Clinical Synopsis for
192350
VATER ASSOCIATION
September 21, 2009
New Entries:
613013
NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2
613014
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3
613015
NEUROBLASTOMA, SUSCEPTIBILITY TO, 4; NBLST4
613016
NEUROBLASTOMA, SUSCEPTIBILITY TO, 5; NBLST5
613017
NEUROBLASTOMA, SUSCEPTIBILITY TO, 6; NBLST6
613023
CENTROSOMAL PROTEIN, 170-KD; CEP170
613024
FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1; FL1
613025
SCHIZOPHRENIA 13; SCZD13
Changed Entries:
100800
ACHONDROPLASIA; ACH
105590
ANAPLASTIC LYMPHOMA KINASE; ALK
118511
CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7
142945
HOLOPROSENCEPHALY 3; HPE3
142946
HOLOPROSENCEPHALY 4; HPE4
151430
B-CELL CLL/LYMPHOMA 2; BCL2
157170
HOLOPROSENCEPHALY 2; HPE2
191191
TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B
201100
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
236100
HOLOPROSENCEPHALY
252605
MUCOLIPIDOSIS III GAMMA
252930
MUCOPOLYSACCHARIDOSIS TYPE IIIC
256700
NEUROBLASTOMA, SUSCEPTIBILITY TO
300376
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
300377
DYSTROPHIN; DMD
310200
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
600277
INHIBITOR OF DNA BINDING 3; ID3
600669
EPILEPSY, IDIOPATHIC GENERALIZED; EIG
601728
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
602757
EPHRIN RECEPTOR EphB6; EPHB6
603249
NIPSNAP, C. ELEGANS, HOMOLOG OF, 1; NIPSNAP1
603851
PAIRED-LIKE HOMEOBOX 2B; PHOX2B
604827
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7
606680
TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 6;
607059
SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4; SLC39A4
607838
N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG
608160
SRY-BOX 9; SOX9
609637
HOLOPROSENCEPHALY 5; HPE5
610453
HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT
Clinical Synopsis for
276300
MISMATCH REPAIR CANCER SYNDROME
September 18, 2009
New Entries:
613020
CATARACT, AGE-RELATED CORTICAL, 2; ARCC2
613022
OXOGLUTARATE DEHYDROGENASE; OGDH
Clinical Synopsis for
612843
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD
Changed Entries:
114100
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET
115650
CATARACT, ANTERIOR POLAR, 1; CTAA1
116600
CATARACT, POSTERIOR POLAR, 1; CTPP1
121015
GAP JUNCTION PROTEIN, ALPHA-3; GJA3
130900
AMELOGENESIS IMPERFECTA, TYPE III; AI3
140100
HAPTOGLOBIN; HP
142623
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
142989
HOMEOBOX D13; HOXD13
164840
V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;
176946
EPHRIN RECEPTOR EphA2; EPHA2
192350
VATER ASSOCIATION
203740
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
219700
CYSTIC FIBROSIS; CF
225750
AICARDI-GOUTIERES SYNDROME 1; AGS1
251290
PSEUDO-TORCH SYNDROME
276600
TYROSINEMIA, TYPE II
276880
UROCANASE DEFICIENCY
300240
HOYERAAL-HREIDARSSON SYNDROME; HHS
300502
PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1
302200
CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES;
600613
NEUROBLASTOMA CANDIDATE REGION, SUPPRESSION OF TUMORIGENICITY 1; NBL1
601885
CATARACT, ZONULAR PULVERULENT 3; CZP3
605995
KINESIN FAMILY MEMBER 1B; KIF1B
607196
MICROCEPHALY, AMISH TYPE; MCPHA
609026
CATARACT, AGE-RELATED CORTICAL, 1; ARCC1
613004
HUNTINGTIN; HTT
613018
TYROSINE AMINOTRANSFERASE; TAT
613019
SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 2; SDHAF2
613022
OXOGLUTARATE DEHYDROGENASE; OGDH
Clinical Synopsis for
143100
HUNTINGTON DISEASE; HD
Clinical Synopsis for
186580
BLAU SYNDROME
Clinical Synopsis for
205950
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Clinical Synopsis for
256700
NEUROBLASTOMA
Clinical Synopsis for
308800
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX
Clinical Synopsis for
610031
POLYMICROGYRIA, ASYMMETRIC
September 17, 2009
New Entries:
613018
TYROSINE AMINOTRANSFERASE; TAT
613019
SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 2; SDHAF2
Changed Entries:
102610
ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1
118100
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
118890
CHYMOTRYPSINOGEN B1; CTRB1
120200
COLOBOMA, OCULAR
122440
CORNEODERMATOOSSEOUS SYNDROME
138140
SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
138150
GLUTAMATE OXALOACETATE TRANSAMINASE, MITOCHONDRIAL; GOT2
148900
MOVED TO 118100
152690
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 6; XRCC6
154230
46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH 9p24.3 DELETION
168000
PARAGANGLIOMAS 1; PGL1
181500
SCHIZOPHRENIA; SCZD
188830
PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A
192090
CADHERIN 1; CDH1
210600
SECKEL SYNDROME 1
229100
FORMIMINOTRANSFERASE DEFICIENCY
248610
DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT
276600
TYROSINEMIA, TYPE II
276800
TYROSINOSIS
276880
UROCANASE DEFICIENCY
300502
PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1
300623
FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
313200
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
314350
REMOVED FROM DATABASE
600124
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRNPA2B1
601074
CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 1; CUGBP1
601209
POLY(rC)-BINDING PROTEIN 1; PCBP1
601215
ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR
601650
PARAGANGLIOMAS 2; PGL2
602424
DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1
602544
PARKIN; PARK2
603083
HETEROGENEOUS NUCLEAR RIBOPROTEIN L; HNRNPL
604238
SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1
604270
LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 4; LRP4
604409
GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 1; GMEB1
605051
CANNABINOID RECEPTOR 2; CNR2
605712
SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1
606829
FRATAXIN; FXN
606928
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3
607451
GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 2; GMEB2
608309
PTEN-INDUCED PUTATIVE KINASE 1; PINK1
608405
1-@AMINOCYCLOPROPANE-1-CARBOXYLATE SYNTHASE
608892
CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7
610783
MICRO RNA 29B1; MIRN29B1
611469
COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2
612774
TASTE RECEPTOR, TYPE 2, MEMBER 46; TAS2R46
613010
RIBOFLAVIN KINASE; RFK
613012
UROCANASE DOMAIN-CONTAINING PROTEIN 1; UROC1
613018
TYROSINE AMINOTRANSFERASE; TAT
Clinical Synopsis for
262700
SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
Clinical Synopsis for
276880
UROCANASE DEFICIENCY
Clinical Synopsis for
314350
REMOVED FROM DATABASE
Clinical Synopsis for
601650
PARAGANGLIOMAS 2; PGL2
September 16, 2009
Changed Entries:
115310
PARAGANGLIOMAS 4; PGL4
125853
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
130900
AMELOGENESIS IMPERFECTA, TYPE III; AI3
143100
HUNTINGTON DISEASE; HD
147700
ISOCITRATE DEHYDROGENASE 1; IDH1
153480
BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS
158350
COWDEN DISEASE; CD
164014
V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA
182205
SEX HORMONE-BINDING GLOBULIN; SHBG
185470
SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB
192090
CADHERIN 1; CDH1
218040
COSTELLO SYNDROME
223200
DISORGANIZATION, MOUSE, HOMOLOG OF
251800
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS
276600
TYROSINE TRANSAMINASE DEFICIENCY
300142
p21-ACTIVATED KINASE 3; PAK3
300558
MENTAL RETARDATION, X-LINKED 30; MRX30
314350
REMOVED FROM DATABASE
600502
IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2
600674
MICROTIA-ANOTIA
600857
SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN; SDHA
601626
LEUKEMIA, ACUTE MYELOID; AML
601728
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
601769
VITAMIN D RECEPTOR; VDR
602165
TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27
602301
K(LYSINE) ACETYLTRANSFERASE 2A; KAT2A
602303
p300/CBP-ASSOCIATED FACTOR; PCAF
603348
HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A
605512
ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4
606232
CHROMOSOME 22q13.3 DELETION SYNDROME
606352
ALSIN
607225
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
607238
COMM DOMAIN-CONTAINING PROTEIN 1; COMMD1
609056
AMISH INFANTILE EPILEPSY SYNDROME
610104
MICRO RNA 125B1; MIR125B1
610105
MICRO RNA 125B2; MIR125B2
611927
FAMILY WITH SEQUENCE SIMILARITY, MEMBER H; FAM83H
September 15, 2009
New Entries:
612774
TASTE RECEPTOR, TYPE 2, MEMBER 46; TAS2R46
613004
HUNTINGTIN; HTT
613012
UROCANASE DOMAIN-CONTAINING PROTEIN 1; UROC1
Changed Entries:
103600
ALBUMIN; ALB
104225
LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-ASSOCIATED PROTEIN
107400
PROTEASE INHIBITOR 1; PI
107600
APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC
113505
BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF
114230
CALPAIN 2; CAPN2
118100
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
118955
CLATHRIN, HEAVY POLYPEPTIDE; CLTC
120435
LYNCH SYNDROME I
125370
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
134637
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6
134934
FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
138040
GLUCOCORTICOID RECEPTOR; GCCR
138400
GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH
139395
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE
142810
HISTIDYL-tRNA SYNTHETASE; HARS
143100
HUNTINGTON DISEASE; HD
147440
INSULIN-LIKE GROWTH FACTOR I; IGF1
148900
MOVED TO 118100
164500
SPINOCEREBELLAR ATAXIA 7; SCA7
164730
V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1
173800
POLAND SYNDROME
176871
PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;
182279
SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN
183090
SPINOCEREBELLAR ATAXIA 2; SCA2
184400
SPRENGEL DEFORMITY
218040
COSTELLO SYNDROME
236200
HOMOCYSTINURIA
261600
PHENYLKETONURIA; PKU
265000
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
276880
UROCANASE DEFICIENCY
277300
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1
300079
BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4
300127
OLIGOPHRENIN 1; OPHN1
300292
FORKHEAD BOX P3; FOXP3
300365
TOLL-LIKE RECEPTOR 7; TLR7
300463
POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1
305423
FACTOR VIII-ASSOCIATED GENE 1; F8A
313700
ANDROGEN RECEPTOR; AR
600140
CREB-BINDING PROTEIN; CREBBP
600201
AGOUTI SIGNALING PROTEIN; ASIP
600571
RE1-SILENCING TRANSCRIPTION FACTOR; REST
600636
CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3
600713
11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1
600783
HISTIDYL-tRNA SYNTHETASE 2; HARS2
600947
HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1
601128
H3 HISTONE, FAMILY 3A; H3F3A
601143
DYNACTIN 1; DCTN1
601147
GROWTH/DIFFERENTIATION FACTOR 6; GDF6
601231
FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1
601517
ATAXIN 2; ATXN2
601542
PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2
601638
ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 2; ARFIP2
601713
GLIA MATURATION FACTOR, BETA; GMFB
601763
CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8
601767
HUNTINGTIN-INTERACTING PROTEIN 1; HIP1
601796
TAF4 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,
602195
HEAT-SHOCK 27-KD PROTEIN 1; HSPB1
602212
SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1
602233
APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1
602355
TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6
602358
HYPOCRETIN; HCRT
602432
OPTINEURIN; OPTN
602544
PARKIN; PARK2
602700
E1A-BINDING PROTEIN, 300-KD; EP300
602846
HUNTINGTIN-INTERACTING PROTEIN 2; HIP2
602849
MUENKE SYNDROME
602850
RING FINGER PROTEIN 4; RNF4
603218
HUNTINGTON DISEASE-LIKE 1; HDL1
603538
KYNURENINE 3-MONOOXYGENASE; KMO
604114
PHOSPHOLIPASE C, BETA-2; PLCB2
604221
ACTIN-RELATED PROTEIN 2; ACTR2
604370
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
604479
SIRTUIN 1; SIRT1
604480
SIRTUIN 2; SIRT2
604504
THYROID HORMONE RECEPTOR INTERACTOR 10; TRIP10
604517
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;
604605
KALIRIN; KALRN
604869
TASTE RECEPTOR, TYPE 2, MEMBER 4; TAS2R4
605474
TOLL-LIKE RECEPTOR 9; TLR9
605613
HUNTINGTIN-INTERACTING PROTEIN 1-RELATED PROTEIN; HIP1R
605983
PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, ALPHA; PPP2R1A
606239
IKAROS FAMILY ZINC FINGER 4; IKZF4
606439
SPG3A GENE; SPG3A
606512
PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 1; PACSIN1
606621
ESTROGEN-RELATED RECEPTOR-BETA-LIKE 1; ESRRBL1
607242
ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-2 SUBUNIT; AP2A2
607462
ATROPHIN 1; ATN1
607640
ATAXIN 7; ATXN7
607751
TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38
607799
ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 17; ZDHHC17
608014
HEAT-SHOCK 22-KD PROTEIN 8; HSPB8
609189
ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, A; ASF1A
609287
SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B1; SH3GLB1
609309
MutS, E. COLI, HOMOLOG OF, 2; MSH2
609475
A-KINASE ANCHOR PROTEIN 8-LIKE PROTEIN; AKAP8L
609493
SLC2A4 REGULATOR; SLC2A4RG
609494
ZINC FINGER PROTEIN 395; ZNF395
611203
DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5; DNAJC5
611332
DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 6; DNAJB6
612192
ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF; ZFP57
612349
PHENYLALANINE HYDROXYLASE; PAH
612668
TASTE RECEPTOR, TYPE 2, MEMBER 43; TAS2R43
612669
TASTE RECEPTOR, TYPE 2, MEMBER 44; TAS2R44
612778
SET DOMAIN-CONTAINING PROTEIN 2; SETD2
612784
HUNTINGTIN-INTERACTING PROTEIN K
612941
PRECURSOR mRNA-PROCESSING FACTOR 40, S. CEREVISIAE, HOMOLOG OF, A;
September 14, 2009
New Entries:
613010
RIBOFLAVIN KINASE; RFK
Changed Entries:
114500
COLORECTAL CANCER; CRC
125860
NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1
126200
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
126255
DISTAL-LESS HOMEOBOX 2; DLX2
129600
ECTOPIA LENTIS, ISOLATED
131760
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
131800
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
131900
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
147141
TRANSCRIPTION FACTOR 3; TCF3
148040
KERATIN 5; KRT5
148066
KERATIN 14; KRT14
153245
LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1
182601
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
190070
V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS
191190
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A
204100
LEBER CONGENITAL AMAUROSIS 2; LCA2
250790
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
266200
PYRUVATE KINASE DEFICIENCY OF RED CELLS
300292
FORKHEAD BOX P3; FOXP3
301410
NEURAL TUBE DEFECTS, X-LINKED
600029
DISTAL-LESS HOMEOBOX 1; DLX1
601001
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
604277
SPG4 GENE; SPG4
604652
TRANSCRIPTION FACTOR 7-LIKE 1; TCF7L1
606053
AUTISM, SUSCEPTIBILITY TO, 5; AUTS5
607937
HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG
607944
COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL
608508
CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA
612001
CHROMOSOME 15q13.3 MICRODELETION SYNDROME
612991
ADDITIONAL SEX COMBS-LIKE 2; ASXL2
September 11, 2009
Changed Entries:
102710
MOVED TO 102720
102720
DIPEPTIDYL PEPTIDASE IV; DPP4
125851
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
138079
GLUCOKINASE; GCK
142959
HOMEOBOX A13; HOXA13
160120
EPISODIC ATAXIA, TYPE 1; EA1
165720
OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1
170710
PERIPHERIN; PRPH
176257
POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER
176260
POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER
176267
POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER
178620
SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC
189965
CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB
191100
TUBEROUS SCLEROSIS; TS
191170
TUMOR PROTEIN p53; TP53
213600
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1
235400
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1
248190
HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5
425000
GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, ALPHA SUBUNIT,
489500
XG REGULATOR; XGR
600160
CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A
600431
CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B
600797
INSULIN RECEPTOR SUBSTRATE 2; IRS2
601409
HIV-1 TAT-INTERACTING PROTEIN; HTATIP
601454
PSORIASIS SUSCEPTIBILITY 3; PSORS3
602014
HYPOMAGNESEMIA 1, INTESTINAL; HOMG1
602338
PRECURSOR mRNA-PROCESSING FACTOR 4, S. POMBE, HOMOLOG OF, B; PRPF4B
602415
DYSTROBREVIN, BETA; DTNB
603029
TOLL-LIKE RECEPTOR 3; TLR3
604238
SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1
604483
SIRTUIN 5; SIRT5
604972
ORIGIN RECOGNITION COMPLEX, SUBUNIT 3, S. CEREVISIAE, HOMOLOG OF;
605433
KINESIN FAMILY MEMBER 13A; KIF13A
605557
PR DOMAIN-CONTAINING PROTEIN 16; PRDM16
605741
EPSTEIN-BARR VIRUS-INDUCED GENE 2; EBI2
605824
POPEYE PROTEIN 3
606557
B-CELL CLL/LYMPHOMA 11A; BCL11A
606742
TOLLOID-LIKE 1; TLL1
607060
PARKINSON DISEASE 8; PARK8
608958
ADENOSINE DEAMINASE; ADA
609291
SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1
610443
CHROMOSOME 17q21.31 MICRODELETION SYNDROME
610551
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
610913
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2
611403
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6
611431
LEGIUS SYNDROME
Clinical Synopsis for
121200
EPILEPSY, BENIGN NEONATAL, 1; EBN1
Clinical Synopsis for
425000
GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, ALPHA SUBUNIT,
Clinical Synopsis for
489500
XG REGULATOR; XGR
September 10, 2009
New Entries:
613007
BILIARY CIRRHOSIS, PRIMARY, 2; PBC2
613008
BILIARY CIRRHOSIS, PRIMARY, 3; PBC3
613009
O-PHOSPHOSERINE tRNA-SELENOCYSTEINE tRNA SYNTHASE; SEPSECS
Changed Entries:
103220
SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE
103780
ALCOHOL DEPENDENCE
109565
B-CELL LYMPHOMA 6; BCL6
109720
BILIARY CIRRHOSIS, PRIMARY, 1; PBC1
114610
CANNABINOID RECEPTOR 1; CNR1
123400
CREUTZFELDT-JAKOB DISEASE; CJD
142983
MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1
151900
LIPOMATOSIS, MULTIPLE
161560
INTERLEUKIN 12A; IL12A
162280
NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL
164980
FIBROBLAST GROWTH FACTOR 4; FGF4
165060
TRANSFER RNA PHOSPHOSERINE; TRSP
182389
SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A
188550
THYROID CARCINOMA, PAPILLARY
194355
X BOX-BINDING PROTEIN 1; XBP1
222100
DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
235400
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1
262600
PITUITARY DWARFISM III
600337
BRADYKININ RECEPTOR B1; BDKRB1
600567
NEUREXIN 3; NRXN3
600575
TRANSLIN; TSN
600702
SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A
600738
SELECTIN P LIGAND; SELPLG
600984
ACTIVATING TRANSCRIPTION FACTOR 6, BETA; ATF6B
601065
ALANYL-tRNA SYNTHETASE; AARS
601200
PLEUROPULMONARY BLASTOMA; PPB
601642
INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2
602014
HYPOMAGNESEMIA 1, INTESTINAL; HOMG1
602069
NEUROPILIN 1; NRP1
602195
HEAT-SHOCK 27-KD PROTEIN 1; HSPB1
602229
SRY-BOX 10; SOX10
602775
SUPPRESSOR OF CLEAR, C. ELEGANS, HOMOLOG OF; SHOC2
602964
TRANSLIN-ASSOCIATED FACTOR X; TSNAX
603423
PR DOMAIN-CONTAINING PROTEIN 1; PRDM1
603961
SEMAPHORIN 3A; SEMA3A
604305
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1
604563
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2
605383
INTERLEUKIN 21 RECEPTOR; IL21R
605384
INTERLEUKIN 21; IL21
605537
ACTIVATING TRANSCRIPTION FACTOR 6; ATF6
606018
EGF-LIKE REPEATS- AND DISCOIDIN I-LIKE DOMAINS-CONTAINING PROTEIN
606058
RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAPGEF4
606241
DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1
606437
MYOKYMIA WITH NEONATAL EPILEPSY
606595
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
606703
DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA
607208
SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
607684
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
607697
SET-BINDING FACTOR 2; SBF2
607948
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
609019
BIOTINIDASE; BTD
609273
NEMALINE MYOPATHY 6; NEM6
609634
MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
611297
ODD-SKIPPED-RELATED 2; OSR2
612923
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3
612924
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4
612925
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5
612926
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6
612983
MICRO RNA 106B; MIR106B
613000
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL; FNEPPK
613002
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
613003
ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
613006
DIABETES MELLITUS, INSULIN-DEPENDENT, 24; IDDM24
613007
BILIARY CIRRHOSIS, PRIMARY, 2; PBC2
September 9, 2009
New Entries:
612998
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4; EDMD4
612999
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5; EDMD5
613006
DIABETES MELLITUS, INSULIN-DEPENDENT, 24; IDDM24
Changed Entries:
102700
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
125852
DIABETES MELLITUS, INSULIN-DEPENDENT, 2
134370
COMPLEMENT FACTOR H; CFH
137070
FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA; FUS
160900
DYSTROPHIA MYOTONICA 1
177046
PROTEASOME SUBUNIT, BETA-TYPE, 8; PSMB8
181350
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2
181500
SCHIZOPHRENIA; SCZD
187380
TENASCIN C; TNC
190151
V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3
204000
LEBER CONGENITAL AMAUROSIS 1; LCA1
204100
LEBER CONGENITAL AMAUROSIS 2; LCA2
222100
DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
226600
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB
226650
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
276400
TWINNING, DIZYGOTIC
276410
TWINNING, MONOZYGOTIC
300400
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
306400
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD
308100
ICHTHYOSIS, X-LINKED; XLI
310300
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD
590050
TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1
600716
PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22
600737
INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2
601097
PERIPHERAL MYELIN PROTEIN 22; PMP22
601309
PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1
601378
CRISPONI SYNDROME
601941
DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6
603824
UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE
603903
SICKLE CELL ANEMIA
604237
CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1
605032
COMPLEXIN 1; CPLX1
605248
MUCOLIPIN 1; MCOLN1
605526
ALZHEIMER DISEASE 6
605627
CEREBROOCULONASAL SYNDROME
607014
HURLER SYNDROME
607399
MUCOLIPIN 2; MCOLN2
607400
MUCOLIPIN 3; MCOLN3
608030
AMYOTROPHIC LATERAL SCLEROSIS 6
608441
SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1
608442
SYNAPTIC NUCLEAR ENVELOPE PROTEIN 2; SYNE2
609360
RENALASE; RNLS
610828
HOLOPROSENCEPHALY 7; HPE7
612520
DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
612917
GIACHETI SYNDROME
September 8, 2009
New Entries:
613003
ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
613005
SANTOS SYNDROME
Clinical Synopsis for
613005
SANTOS SYNDROME
Changed Entries:
104150
ALPHA-FETOPROTEIN; AFP
121014
GAP JUNCTION PROTEIN, ALPHA-1; GJA1
125480
MAJOR AFFECTIVE DISORDER 1; MAFD1
138960
COLONY-STIMULATING FACTOR 2; CSF2
138970
COLONY-STIMULATING FACTOR 3; CSF3
138971
COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R
143465
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
151410
BREAKPOINT CLUSTER REGION; BCR
164200
OCULODENTODIGITAL DYSPLASIA; ODDD
165360
CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG;
189980
ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1
190180
TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
194190
WOLF-HIRSCHHORN SYNDROME; WHS
251850
DIARRHEA 2, WITH MICROVILLOUS ATROPHY; DIAR2
300035
EPHRIN B1; EFNB1
300143
MENTAL RETARDATION, X-LINKED 21; MRX21
300206
INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1
300329
ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 33; ZBTB33
300778
CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD
306250
COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA
314670
X INACTIVATION-SPECIFIC TRANSCRIPT; XIST
600584
NK2 HOMEOBOX 5; NKX2-5
600814
MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A
600950
ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT
601268
CHEMOKINE, CC MOTIF, RECEPTOR 3; CCR3
601500
SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH
601535
EPHRIN A5; EFNA5
601785
PHOSPHOMANNOMUTASE 2; PMM2
602118
CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1; CHD1
602361
GRACILE BONE DYSPLASIA
602952
WOLF-HIRSCHHORN SYNDROME CANDIDATE 1; WHSC1
603075
MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603171
NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8;
603172
UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C
603385
NEDD8-ACTIVATING ENZYME E1, SUBUNIT 1; NAE1
605353
GHRELIN; GHRL
605967
ACROPECTORAL SYNDROME
606025
ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 20; ZBTB20
606540
MYOSIN VB; MYO5B
607478
TRYPTOPHAN HYDROXYLASE 2; TPH2
607484
PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A
607802
CYCLIN M1; CNNM1
607803
CYCLIN M2; CNNM2
607804
CYCLIN M3; CNNM3
607805
CYCLIN M4; CNNM4
608232
LEUKEMIA, CHRONIC MYELOID; CML
608408
DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 3; DPPA3
609799
NEVER IN MITOSIS GENE A-RELATED KINASE 8; NEK8
611043
LIN28, C. ELEGANS, HOMOLOG OF; LIN28
611795
MICRO RNA 145; MIR145
611940
MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 4; MBOAT4
612117
MICRO RNA 143; MIR143
612719
6-@PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS
613005
SANTOS SYNDROME
Clinical Synopsis for
166220
OSTEOGENESIS IMPERFECTA, TYPE IV
Clinical Synopsis for
220110
MITOCHONDRIAL COMPLEX IV DEFICIENCY
Clinical Synopsis for
256000
LEIGH SYNDROME; LS
September 4, 2009
New Entries:
613001
ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL
Changed Entries:
102710
ADENOSINE DEAMINASE COMPLEXING PROTEIN 1; ADCP1
104311
PRESENILIN 1; PSEN1
107741
APOLIPOPROTEIN E; APOE
112261
BONE MORPHOGENETIC PROTEIN 2; BMP2
112265
BONE MORPHOGENETIC PROTEIN 5; BMP5
114078
CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A
114105
PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA
114851
CARBOXYPEPTIDASE A3, MAST CELL; CPA3
114855
CARBOXYPEPTIDASE E; CPE
116950
TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T
117000
CENTRAL CORE DISEASE OF MUSCLE
120321
MOVED TO 120320
123842
PEPTIDYL-PROLYL ISOMERASE C; PPIC
125480
MAJOR AFFECTIVE DISORDER 1; MAFD1
125650
MOVED TO 606418
125851
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
126455
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),
126660
DREBRIN E; DBN1
130660
ELASTIN MICROFIBRIL INTERFACER 1; EMILIN1
131960
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP
132400
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
133535
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN MOUSE CELLS; ERCM1
136840
FULL-LENGTH RETROVIRAL SEQUENCE 1; FRV1
136870
FULL-LENGTH RETROVIRAL SEQUENCE 2; FRV2
136890
FULL-LENGTH RETROVIRAL SEQUENCE 3; FRV3
137295
GATA-BINDING PROTEIN 2; GATA2
138079
GLUCOKINASE; GCK
138270
MOVED TO 138385
139312
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE,
142450
MOVED TO 600644
142810
HISTIDYL-tRNA SYNTHETASE; HARS
147558
INTEGRIN, BETA-6; ITGB6
148300
KERATOCONUS 1; KTCN1
160900
DYSTROPHIA MYOTONICA 1
161800
NEMALINE MYOPATHY 3; NEM3
162060
GROWTH-ASSOCIATED PROTEIN 43; GAP43
164831
LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1
164975
WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A
166600
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
167410
PAIRED BOX GENE 7; PAX7
168600
PARKINSON DISEASE; PD
170710
PERIPHERIN; PRPH
171890
PHOSPHODIESTERASE 1A; PDE1A
173500
PLATELET GROUPS--Ko SYSTEM; HPA-2
176920
PROTEUS SYNDROME
176943
FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
176982
PROTEIN KINASE C, ZETA FORM; PRKCZ
182370
MOVED TO 182330
187300
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;
188390
PROTHYMOSIN, ALPHA; PTMA
190940
ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 1; ERVT1
190950
ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 2; ERVT2
190960
ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 3; ERVT3
190970
ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 4; ERVT4
192070
REMOVED FROM DATABASE
192968
INTEGRIN, ALPHA-1; ITGA1
193300
VON HIPPEL-LINDAU SYNDROME; VHL
201400
ACTH DEFICIENCY, ISOLATED; IAD
212065
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
213600
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1
219250
CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC
232200
GLYCOGEN STORAGE DISEASE I
238970
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
250800
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
254780
MYOCLONIC EPILEPSY OF LAFORA
265100
PULMONARY ALVEOLAR MICROLITHIASIS
266150
PYRUVATE CARBOXYLASE DEFICIENCY
277700
WERNER SYNDROME; WRN
300624
FRAGILE X MENTAL RETARDATION SYNDROME
300767
REPLICATION PROTEIN A4; RPA4
300780
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A1; CT47A1
300781
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A2; CT47A2
300782
CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A3; CT47A3
300793
CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A2; CT45A2
300794
CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A3; CT45A3
300795
CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A4; CT45A4
300796
CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A5; CT45A5
300797
CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A6; CT45A6
600228
SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA SUBUNIT; SCNN1A
600376
OSLER-RENDU-WEBER SYNDROME 2; ORW2
600410
TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 6; TNFAIP6
600473
PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA
600568
NEUROLIGIN 1; NLGN1
600571
RE1-SILENCING TRANSCRIPTION FACTOR; REST
600620
FK506-BINDING PROTEIN 1B; FKBP1B
600759
PRESENILIN 2; PSEN2
600797
INSULIN RECEPTOR SUBSTRATE 2; IRS2
600843
PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 3; P2RX3
600846
PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4
600982
MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1
601046
MATRIX METALLOPROTEINASE 12; MMP12
601102
EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 2; EIF4A2
601365
DISHEVELLED 1; DVL1
601378
CRISPONI SYNDROME
601409
HIV-1 TAT-INTERACTING PROTEIN; HTATIP
601433
MOVED TO 180621
601497
BCL2-ASSOCIATED ATHANOGENE 1; BAG1
601524
GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14
601614
NETRIN 1, MOUSE, HOMOLOG OF; NTN1
601684
RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 1; RPS6KA1
601808
CHROMOSOME 18q DELETION SYNDROME
602256
PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 2; PPEF2
602413
SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN,
602415
DYSTROBREVIN, BETA; DTNB
602513
REGULATOR OF G PROTEIN SIGNALING 14; RGS14
602655
SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN;
602711
AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 3; APBB3
602734
PLASTIN 1; PLS1
602866
CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 2; ACCN2
602945
TRANSCRIPTIONAL ADAPTOR 3-LIKE
603029
TOLL-LIKE RECEPTOR 3; TLR3
603092
DUAL-SPECIFICITY PHOSPHATASE 11; DUSP11
603136
CULLIN 3; CUL3
603727
GLUTAMINYL-tRNA SYNTHETASE; QARS
603778
CHROMODOMAIN PROTEIN ON Y CHROMOSOME-LIKE; CDYL
603790
SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1
603819
STEROID RECEPTOR RNA ACTIVATOR 1; SRA1
603861
SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER),
603883
BCL2-ASSOCIATED ATHANOGENE 3; BAG3
603990
REMOVED FROM DATABASE
604139
DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 2; DNAJB2
604143
EXTRA SPINDLE POLES-LIKE 1; ESPL1
604238
SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1
604272
SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2
604282
PLEXIN D1; PLXND1
604377
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE
604464
INTERSECTIN 2; ITSN2
604481
SIRTUIN 3; SIRT3
604506
THYROID HORMONE RECEPTOR INTERACTOR 12; TRIP12
604593
KINESIN FAMILY MEMBER 5C; KIF5C
604667
CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION; CADPS
604943
SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5
604958
ACTIN-LIKE 6A; ACTL6A
604998
CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I; CAMK1
605008
A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
605045
MEDIATOR COMPLEX SUBUNIT 7; MED7
605090
RETINOIC ACID RECEPTOR RESPONDER 1; RARRES1
605374
MYCN, OPPOSITE STRAND; MYCNOS
605377
DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
605403
TOLL-LIKE RECEPTOR 6; TLR6
605435
PROTEIN KINASE D1; PRKD1
605536
RAB11 FAMILY-INTERACTING PROTEIN 5; RAB11FIP5
605590
SPLICING FACTOR 3B, SUBUNIT 1; SF3B1
605615
ARIADNE, DROSOPHILA, HOMOLOG OF, 2; ARIH2
605652
F-BOX AND LEUCINE-RICH REPEAT PROTEIN 2; FBXL2
605655
F-BOX AND LEUCINE-RICH REPEAT PROTEIN 5; FBXL5
605656
F-BOX AND LEUCINE-RICH REPEAT PROTEIN 7; FBXL7
605771
CYTOCHROME C OXIDASE SUBUNIT VIIA, POLYPEPTIDE 2-LIKE; COX7A2L
605817
RECEPTOR-INTERACTING SERINE/THREONINE KINASE 3; RIPK3
605823
POPEYE PROTEIN 2
605843
PEROXISOMAL TRANS-2-ENOYL-CoA REDUCTASE; PECR
605852
CLIP-ASSOCIATED PROTEIN 1; CLASP1
605853
CLIP-ASSOCIATED PROTEIN 2
605869
ATPase, CLASS VI, TYPE 11B; ATP11B
605897
UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 1
605898
UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 2
605931
SORTING NEXIN 4; SNX4
606093
PEPTIDYL-PROLYL ISOMERASE G; PPIG
606133
CDC42 EFFECTOR PROTEIN 3; CDC42EP3
606180
EXOSOME COMPONENT 9; EXOSC9
606223
PROTEASOME 26S SUBUNIT, NON-ATPASE, 2; PSMD2
606237
TRANSFORMING GROWTH FACTOR-BETA RECEPTOR-ASSOCIATED PROTEIN 1; TGFBRAP1
606280
NON-SMC CONDENSIN I COMPLEX SUBUNIT G; NCAPG
606284
SORCS RECEPTOR 2; SORCS2
606376
CARBOHYDRATE SULFOTRANSFERASE 10; CHST10
606389
CATION CHANNEL, SPERM-ASSOCIATED, 1; CATSPER1
606467
ALDEHYDE DEHYDROGENASE 8 FAMILY, MEMBER A1; ALDH8A1
606486
CHMP FAMILY, MEMBER 1B; CHMP1B
606501
MYOTUBULARIN-RELATED PROTEIN 12; MTMR12
606516
MUSCLEBLIND-LIKE PROTEIN 1; MBNL1
606537
MYOSIN IB; MYO1B
606567
TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 4; TM4SF4
606587
PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 18; PTPN18
606645
CENTAURIN, DELTA-1; CENTD1
606742
TOLLOID-LIKE 1; TLL1
606767
POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 3; KCNG3
606801
MACROPHAGE ERYTHROBLAST ATTACHER; MAEA
606805
GOLGI INTEGRAL MEMBRANE PROTEIN 4; GOLIM4
606828
N-ACETYLGLUCOSAMINE KINASE; NAGK
606867
GOLGI REASSEMBLY STACKING PROTEIN 1; GORASP1
606877
ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C
606880
CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2
606921
G PROTEIN-COUPLED RECEPTOR 78; GPR78
606929
THO COMPLEX, SUBUNIT 3; THOC3
606947
ANAPHASE-PROMOTING COMPLEX, SUBUNIT 4; ANAPC4
606991
INOSITOL HEXAPHOSPHATE KINASE 1; IHPK1
606994
TYROSINE KINASE, NONRECEPTOR, 2; TNK2
607005
GEM-ASSOCIATED PROTEIN 5
607027
ATPase, H+ TRANSPORTING, LYSOSOMAL ALPHA POLYPEPTIDE, 70-KD, ISOFORM
607029
VESICLE-ASSOCIATED MEMBRANE PROTEIN 5; VAMP5
607030
GRANCALCIN; GCA
607065
GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE; QPCT
607093
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
607147
POLIOVIRUS RECEPTOR-LIKE 3; PVRL3
607150
FIFTH EWING SARCOMA VARIANT; FEV
607153
INTEGRIN, BETA-1, BINDING PROTEIN OF, 1; ITGB1BP1
607156
ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 6; ST3GAL6
607173
PROTEASOME 26S SUBUNIT, NON-ATPase, 14; PSMD14
607205
PUMILIO, DROSOPHILA, HOMOLOG OF, 2; PUM2
607275
HOP HOMEOBOX; HOPX
607286
LSM6 PROTEIN; LSM6
607307
FILAMIN A-INTERACTING PROTEIN 1; FILIP1
607332
CHROMOSOME 5 OPEN READING FRAME 13; C5ORF13
607386
SELECTIVE LIM-BINDING FACTOR, RAT, HOMOLOG OF
607399
MUCOLIPIN 2; MCOLN2
607400
MUCOLIPIN 3; MCOLN3
607433
TWINFILIN, DROSOPHILA, HOMOLOG OF, 2; TWF2
607520
ZYGOTE ARREST 1; ZAR1
607535
RING1- AND YY1-BINDING PROTEIN; RYBP
607607
NUCLEOPORIN, 54-KD; NUP54
607648
SERINE/THREONINE PROTEIN KINASE 39; STK39
607701
KELCH AND BTB/POZ DOMAINS-CONTAINING PROTEIN 10; KBTBD10
607703
NUCLEOPORIN, 210-KD; NUP210
607705
PROTEASOME ACTIVATOR SUBUNIT 4; PSME4
607708
CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D
607730
DNA DAMAGE-INDUCIBLE TRANSCRIPT 4-LIKE; DDIT4L
607737
FIBROBLAST GROWTH FACTOR-BINDING PROTEIN 1; FGFBP1
607752
CYCLIN O; CCNO
607760
DNA TOPOISOMERASE II-BINDING PROTEIN 1; TOPBP1
607766
CENTAURIN, BETA-2; CENTB2
607803
CYCLIN M2; CNNM2
607804
CYCLIN M3; CNNM3
607843
PKHD1-LIKE 1; PKHD1L1
607880
EXOCYST COMPLEX COMPONENT 6B; EXOC6B
608030
AMYOTROPHIC LATERAL SCLEROSIS 6
608089
ENDOMETRIAL CANCER
608586
KERATOCONUS 3; KTCN3
608786
PYRUVATE CARBOXYLASE; PC
608932
KERATOCONUS 2; KTCN2
609271
KERATOCONUS 4; KTCN4
609284
NEMALINE MYOPATHY 1; NEM1
609285
NEMALINE MYOPATHY 4; NEM4
609323
OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 3; OLIG3
609327
MICRO RNA 124-1; MIR124-1
609423
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
609708
LIPOPROTEIN LIPASE; LPL
610062
DYNEIN, AXONEMAL, LIGHT CHAIN 1; DNAL1
610170
KYPHOSCOLIOSIS 1
610243
ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27
610244
SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33
610406
TRANSFER RNA ARGININE 1; TRNAR1
610407
TRANSFER RNA GLYCINE 2; TRNAG2
610551
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
611183
C3ORF10 GENE; C3ORF10
611186
MICRO RNA 9-1; MIRN9-1
611403
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6
611620
MICRO RNA 1224; MIRN1224
612174
CALCIUM-BINDING PROTEIN 39; CAB39
612175
CALCIUM-BINDING PROTEIN 39-LIKE PROTEIN; CAB39L
612953
DYSTONIA-PARKINSONISM, ADULT-ONSET
612954
MYOPATHY, MYOFIBRILLAR, BAG3-RELATED
612980
IMP3, S. CEREVISIAE, HOMOLOG OF; IMP3
