PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for October, 2007

Please send your questions to the NCBI Help Desk.

October 31, 2007

New Entries:

611568 GOLGI-LOCALIZED SYNTAPHILIN-RELATED PROTEIN
611569 CYTOSKELETON-ASSOCIATED PROTEIN 2; CKAP2
611571 OTOSCLEROSIS 4; OTSC4
611572 OTOSCLEROSIS 7; OTSC7
611573 SPHINGOMYELIN SYNTHASE 1; SGMS1

Changed Entries:

120900 COMPLEMENT COMPONENT 5; C5
121009 CONNECTIVE TISSUE GROWTH FACTOR; CTGF
139380 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1; GNB1
153456 LYSYL OXIDASE-LIKE 1; LOXL1
166800 OTOSCLEROSIS; OTSC1
168810 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 2; PRB2
168840 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 3; PRB3
180300 RHEUMATOID ARTHRITIS; RA
180989 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 1; PRB1
180990 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 4; PRB4
181750 SCLERODERMA, FAMILIAL PROGRESSIVE
189970 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE
189974 MOVED TO 139380
226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB
300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F
300600 ALAND ISLAND EYE DISEASE; AIED
601711 TNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1
603790 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1
603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2
605132 TRANSDUCIN-LIKE ENHANCER OF SPLIT 4; TLE4
605139 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 2; CCT2
605140 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 7; CCT7
605142 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 4; CCT4
605913 BLEEDING DISORDER, EAST TEXAS TYPE
606064 CD248 ANTIGEN; CD248
608330 PSO4, S. CEREVISIAE, HOMOLOG OF
608764 PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1
608787 OTOSCLEROSIS 5; OTSC5
611564 BTG3-ASSOCIATED NUCLEAR PROTEIN; BANP
Clinical Synopsis for 135150 BIRT-HOGG-DUBE SYNDROME; BHD
Clinical Synopsis for 177650 EXFOLIATION SYNDROME; XFS
Clinical Synopsis for 191100 TUBEROUS SCLEROSIS; TS

October 30, 2007

New Entries:

300683 SEPTIN 6; SEPT6
611564 BTG3-ASSOCIATED NUCLEAR PROTEIN; BANP
611565 KIAA1109 GENE; KIAA1109
611566 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 1-LIKE 1; PRPS1L1

Changed Entries:

120700 COMPLEMENT COMPONENT 3; C3
128990 EARLY GROWTH RESPONSE 1; EGR1
137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B
142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10
153456 LYSYL OXIDASE-LIKE 1; LOXL1
159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL
164017 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRPA1
165500 OPTIC ATROPHY 1; OPA1
177650 EXFOLIATION SYNDROME; XFS
249100 FAMILIAL MEDITERRANEAN FEVER; FMF
311850 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
311860 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE II; PRPS2
601506 SEPTIN 2; SEPT2
601665 OBESITY
602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603151 SEPTIN 7; SEPT7
603756 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2
604942 SYNTAPHILIN; SNPH
606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1
610093 MICROPHTHALMIA, ISOLATED 2; MCOP2
610623 CATARACT, POSTERIOR POLAR, 4; CTPP4
Clinical Synopsis for 122500 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 6; SERPINA6

October 29, 2007

New Entries:

611562 SEPTIN 12; SEPT12
611563 SEPTIN 13; SEPT13

Changed Entries:

107741 APOLIPOPROTEIN E; APOE
136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN
138570 GLYCOGEN SYNTHASE 1; GYS1
151445 Fc FRAGMENT OF IgE, LOW AFFINITY II, RECEPTOR FOR; FCER2
180200 RETINOBLASTOMA; RB1
267800 RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE
300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
300490 SH2 DOMAIN PROTEIN 1A; SH2D1A
300560 PHD FINGER PROTEIN 8; PHF8
312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
600165 NANOPHTHALMOS 1; NNO1
600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4
602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10
603023 IKAROS FAMILY ZINC FINGER 1; IKZF1
603492 SLAM FAMILY, MEMBER 1; SLAMF1
607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1; TICAM1
607732 STERILE ALPHA AND TIR MOTIFS-CONTAINING PROTEIN 1; SARM1
608091 JOUBERT SYNDROME 2; JBTS2
Clinical Synopsis for 608629 JOUBERT SYNDROME 3; JBTS3

October 26, 2007

New Entries:

611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE
611557 UROPLAKIN 1A; UPK1A
611558 UROPLAKIN 2; UPK2
611559 UROPLAKIN 3A; UPK3A

Changed Entries:

116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2
122470 CORNELIA DE LANGE SYNDROME 1; CDLS1
126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),
130130 ELASTASE 2; ELA2
136538 FORMYL PEPTIDE RECEPTOR-LIKE 1; FPRL1
138570 GLYCOGEN SYNTHASE 1; GYS1
138571 GLYCOGEN SYNTHASE 2; GYS2
147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF
163970 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE),
164160 LEPTIN; LEP
164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET
171300 PHEOCHROMOCYTOMA
171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
174761 POLYMERASE (DNA-DIRECTED), DELTA 1, CATALYTIC SUBUNIT; POLD1
176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1
178500 PULMONARY FIBROSIS, IDIOPATHIC
182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),
214800 CHARGE SYNDROME
220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
240600 GLYCOGEN STORAGE DISEASE 0, LIVER
264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
266600 INFLAMMATORY BOWEL DISEASE 1; IBD1
601047 CAVEOLIN 1; CAV1
602216 SERINE/THREONINE PROTEIN KINASE 11; STK11
602380 UROPLAKIN 1B; UPK1B
602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7
603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A
603924 HYALURONAN-BINDING PROTEIN 2; HABP2
604936 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC
604937 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC
604938 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC
605580 INTERLEUKIN 23-ALPHA; IL23A
609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
609751 ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1
609847 NOTUM, DROSOPHILA, HOMOLOG OF; NOTUM
611359 ACTIVATING MOLECULE IN BECLIN 1-REGULATED AUTOPHAGY
611361 UBIQUITIN-ACTIVATING ENZYME E1-LIKE 2; UBE1L2
611458 GALACTOSIDASE, BETA-1; GLB1
611557 UROPLAKIN 1A; UPK1A
Clinical Synopsis for 253200 MUCOPOLYSACCHARIDOSIS TYPE VI

October 25, 2007

New Entries:

611552 NICOTINATE PHOSPHORIBOSYLTRANSFERASE DOMAIN-CONTAINING 1; NAPRT1
611553 NOONAN SYNDROME 5; NS5
611554 LEOPARD SYNDROME 2
611555 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE,

Changed Entries:

102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1
113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1
138945 GRANULIN; GRN
142410 HNF1 HOMEOBOX A; HNF1A
150310 LAMININ, BETA-3; LAMB3
150330 LAMIN A/C; LMNA
151100 LEOPARD SYNDROME 1
163950 NOONAN SYNDROME 1; NS1
164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1
176807 PROSTATE CANCER
188400 DIGEORGE SYNDROME; DGS
189907 HNF1 HOMEOBOX B; HNF1B
190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2
192430 VELOCARDIOFACIAL SYNDROME
226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB
601007 LEPTIN RECEPTOR; LEPR
601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1
602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL
602607 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1; SLC22A1
602914 AQUAPORIN 9; AQP9
603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS
604118 RAS PROTEIN ACTIVATOR-LIKE 1; RASAL1
606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4
607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;
610997 PROSTATE CANCER, HEREDITARY, 9
611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6
611230 NON-SMC CONDENSIN II COMPLEX SUBUNIT H2; NCAPH2
611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9
611555 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE,

October 24, 2007

New Entries:

611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9
611548 PREMATURE OVARIAN FAILURE 5; POF5
611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN
611550 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3
611551 FIBULIN 7; FBLN7

Changed Entries:

102574 ACTININ, ALPHA-3; ACTN3
102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3
104700 AMYLASE, SALIVARY, A; AMY1A
109170 LEUKOCYTE-SPECIFIC TRANSCRIPT 1; LST1
116600 CATARACT, POSTERIOR POLAR, 1; CTPP1
137295 GATA-BINDING PROTEIN 2; GATA2
142560 HLA-B-ASSOCIATED TRANSCRIPT 1; BAT1
147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R
147680 INTERLEUKIN 2; IL2
147795 JANUS KINASE 1; JAK1
161560 INTERLEUKIN 12A; IL12A
161561 INTERLEUKIN 12B; IL12B
173850 POLIOVIRUS RECEPTOR; PVR
176941 PROTEIN-TYROSINE KINASE 2; TYK2
191160 TUMOR NECROSIS FACTOR; TNF
191200 TUNE DEAFNESS
226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB
229900 MOVED TO 258870
230800 GAUCHER DISEASE, TYPE I
233420 GONADAL DYSGENESIS, XY TYPE
243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE
311360 PREMATURE OVARIAN FAILURE 1; POF1
314980 ZINC FINGER PROTEIN, X-LINKED; ZFX
600004 EPHRIN RECEPTOR EphA5; EPHA5
600031 CHITINASE 1; CHIT1
600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2
600798 POLIOVIRUS RECEPTOR-LIKE 2; PVRL2
600978 LYMPHOTOXIN-BETA; LTB
601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP
601535 EPHRIN A5; EFNA5
601719 T-BOX 4; TBX4
602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;
602407 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2
603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11
604164 ONE CUT HOMEOBOX 1; ONECUT1
605283 MAGE-LIKE 2; MAGEL2
605387 CATARACT, POSTERIOR POLAR, 3; CTPP3
605397 CD226 ANTIGEN; CD226
605423 DESERT HEDGEHOG; DHH
606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1
606255 STATURE AS A QUANTITATIVE TRAIT
606446 SLAM FAMILY, MEMBER 6; SLAMF6
607080 GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY
608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5
608996 PREMATURE OVARIAN FAILURE 3; POF3
609836 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 2; PCBD2
610252 MICRO RNA 1-2; MIRN1-2
610897 CHMP FAMILY, MEMBER 4B; CHMP4B
610934 NEWBORN OVARY HOMEOBOX, MOUSE, HOMOLOG OF; NOBOX
611546 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6
611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9

October 23, 2007

New Entries:

300682 MICRO RNA 424; MIRN424
611498 NEPHRONOPHTHISIS 7; NPHP7
611542 ARYLSULFATASE B; ARSB
611546 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6

Changed Entries:

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3
103800 MOVED TO 253200 AND 258870
120700 COMPLEMENT COMPONENT 3; C3
136351 FMS-RELATED TYROSINE KINASE 3; FLT3
141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
142250 HEMOGLOBIN, GAMMA G; HBG2
142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5
142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2
147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3
154045 LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2
158340 MUCIN 1, TRANSMEMBRANE; MUC1
162200 NEUROFIBROMATOSIS, TYPE I; NF1
228980 FLECK RETINA, FAMILIAL BENIGN
229900 MOVED TO 258870
253000 MUCOPOLYSACCHARIDOSIS TYPE IVA
253200 MUCOPOLYSACCHARIDOSIS TYPE VI
258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY
261600 PHENYLKETONURIA
264150 MOVED TO 177170
272200 MULTIPLE SULFATASE DEFICIENCY; MSD
300180 ARYLSULFATASE E; ARSE
302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3
415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
600201 AGOUTI SIGNALING PROTEIN; ASIP
602322 TELOMERASE RNA COMPONENT; TERC
603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A
603570 VANIN 1; VNN1
605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1
606050 UBIQUITIN D; UBD
606557 B-CELL CLL/LYMPHOMA 11A; BCL11A
606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4
607574 ARYLSULFATASE A; ARSA
608539 GLIS FAMILY ZINC FINGER PROTEIN 2; GLIS2
610057 GLYCOPROTEIN, SYNAPTIC, 2; GPSN2
610599 RETINITIS PIGMENTOSA 36; RP36
610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR
611321 CALSYNTENIN 1; CLSTN1
611361 UBIQUITIN-ACTIVATING ENZYME E1-LIKE 2; UBE1L2
611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9
611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6
611542 ARYLSULFATASE B; ARSB

October 22, 2007

New Entries:

611545 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 8; CYP4F8

Changed Entries:

113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1
150310 LAMININ, BETA-3; LAMB3
226650 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB
226700 EPIDERMOLYSIS BULLOSA LETALIS
229300 FRIEDREICH ATAXIA 1; FRDA
249100 FAMILIAL MEDITERRANEAN FEVER; FMF
602865 DELETED IN BLADDER CANCER 1; DBC1
606158 BSCL2 GENE; BSCL2
608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV
611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12
611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11

October 19, 2007

New Entries:

611543 CAVITARY OPTIC DISC ANOMALIES
611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3

Changed Entries:

118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C
157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT
191092 TSC2 GENE; TSC2
191100 TUBEROUS SCLEROSIS; TS
268000 RETINITIS PIGMENTOSA; RP
300658 NDP GENE; NDP
301500 FABRY DISEASE
309900 MUCOPOLYSACCHARIDOSIS TYPE II
535000 LEBER OPTIC ATROPHY
600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A
600929 CRYSTALLIN, BETA-B1; CRYBB1
604580 FIBULIN 5; FBLN5
606350 APRATAXIN; APTX
606793 AMINOPEPTIDASE, PUROMYCIN-SENSITIVE; NPEPPS
607042 CLN3 GENE; CLN3
609978 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2; CADPS2
611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3

October 18, 2007

New Entries:

611540 SH3-DOMAIN GRB2-LIKE (ENDOPHILIN)-INTERACTING PROTEIN 1; SGIP1
611541 SORTING NEXIN 27; SNX27

Changed Entries:

102581 ACTIVIN A RECEPTOR, TYPE II; ACVR2
117700 CERULOPLASMIN; CP
126375 DNA METHYLTRANSFERASE 1; DNMT1
137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT
176830 PROOPIOMELANOCORTIN; POMC
192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1
210000 BEHR SYNDROME
250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV
258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III
261100 MEGALOBLASTIC ANEMIA 1
300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
302060 BARTH SYNDROME; BTHS
313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1
600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2
601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D
601693 UNCOUPLING PROTEIN 2; UCP2
601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4
602098 POLO-LIKE KINASE 1; PLK1
602442 INTERSECTIN 1; ITSN1
602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM
602769 DNA METHYLTRANSFERASE 3A; DNMT3A
603651 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 4;
603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;
603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB
604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1
605514 PROTOCADHERIN 15; PCDH15
605516 CADHERIN 23; CDH23
606580 OPA3 GENE; OPA3
606588 DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L
608144 SAM POINTED DOMAIN-CONTAINING ETS TRANSCRIPTION FACTOR; SPDEF
608639 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 8;
609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2
610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
611313 LOC387715 GENE

October 17, 2007

New Entries:

611538 OLFACTORY RECEPTOR, FAMILY 7, SUBFAMILY D, MEMBER 4; OR7D4
611539 FORKHEAD BOX D3; FOXD3

Changed Entries:

134370 COMPLEMENT FACTOR H; CFH
137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A
164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1
177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5
237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B
278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
300032 ATR-X GENE; ATRX
312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR
535000 LEBER OPTIC ATROPHY
600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP
601371 CATARACT, AGE-RELATED NUCLEAR
601442 COFILIN 1; CFL1
601652 MYOCILIN; MYOC
602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;
602345 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3;
604096 GLUTAMATE RECEPTOR, METABOTROPIC, 6; GRM6
608300 N-ACETYLGLUTAMATE SYNTHASE; NAGS
608400 USH2A GENE; USH2A
609026 CATARACT, AGE-RELATED CORTICAL
610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
611313 LOC387715 GENE
611538 OLFACTORY RECEPTOR, FAMILY 7, SUBFAMILY D, MEMBER 4; OR7D4
Clinical Synopsis for 177170 PSEUDOACHONDROPLASIA; PSACH
Clinical Synopsis for 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;

October 16, 2007

New Entries:

611277 FEBRILE CONVULSIONS, FAMILIAL, 8; FEB8
611515 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7
611533 NUCLEOLAR PROTEIN 7; NOL7
611534 NUCLEOLAR PROTEIN 8; NOL8
611537 CATENIN, BETA-LIKE, 1; CTNNBL1

Changed Entries:

120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1
121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1
123400 CREUTZFELDT-JAKOB DISEASE; CJD
137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2
147100 IgG HEAVY CHAIN LOCUS; IGHG1
155760 AGGRECAN 1; AGC1
158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
167414 PAIRED BOX GENE 5; PAX5
177150 MOVED TO 177170
177170 PSEUDOACHONDROPLASIA; PSACH
179615 RECOMBINATION-ACTIVATING GENE 1; RAG1
179616 RECOMBINATION-ACTIVATING GENE 2; RAG2
194363 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4
217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM
261600 PHENYLKETONURIA
300451 ECTODYSPLASIN A; EDA
305100 ECTODERMAL DYSPLASIA 1; ED1
600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP
600563 PROSTAGLANDIN F RECEPTOR; PTGFR
601204 PROSTAGLANDIN F2 RECEPTOR NEGATIVE REGULATOR; PTGFRN
601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4
602194 HTRA SERINE PEPTIDASE 1; HTRA1
602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM
602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1
602740 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1
602742 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1
602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
604580 FIBULIN 5; FBLN5
604610 RECQ PROTEIN-LIKE 3; RECQL3
605194 CRYPTIC PROTEIN; CFC1
608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3
609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
609633 MAJOR AFFECTIVE DISORDER 3; MAFD3
610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7
610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
611313 LOC387715 GENE
611515 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7
611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11

October 15, 2007

New Entries:

611530 NEUROLYSIN; NLN
611531 ESSENTIAL FOR MITOTIC GROWTH 1, S. CEREVISIAE, HOMOLOG OF; EMG1
611532 NUCLEOLAR PROTEIN 6; NOL6
611535 MAJOR AFFECTIVE DISORDER 5; MAFD5
611536 MAJOR AFFECTIVE DISORDER 6; MAFD6

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
125480 MAJOR AFFECTIVE DISORDER 1; MAFD1
134370 COMPLEMENT FACTOR H; CFH
137920 RENAL CYSTS AND DIABETES SYNDROME
187500 TETRALOGY OF FALLOT
189907 TRANSCRIPTION FACTOR 2; TCF2
600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP
601117 THIMET OLIGOPEPTIDASE 1; THOP1
602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B
603058 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 4; PCDHGB4
603059 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 12; PCDHGA12
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603627 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 3; PCDHGC3
604967 PROTOCADHERIN-BETA GENE CLUSTER
604968 PROTOCADHERIN-GAMMA GENE CLUSTER
605194 CRYPTIC PROTEIN; CFC1
605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL
606290 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 3; PCDHGA3
606291 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 4; PCDHGA4
606292 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 5; PCDHGA5
606293 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 6; PCDHGA6
606294 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 7; PCDHGA7
606295 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 8; PCDHGA8
606296 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 9; PCDHGA9
606297 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 10; PCDHGA10
606298 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 11; PCDHGA11
606299 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 1; PCDHGB1
606300 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 2; PCDHGB2
606301 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 3; PCDHGB3
606302 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 5; PCDHGB5
606303 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 6; PCDHGB6
606304 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 7; PCDHGB7
606305 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 4; PCDHGC4
606306 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 5; PCDHGC5
606325 HETEROTAXY, VISCERAL, 3, AUTOSOMAL
606327 PROTOCADHERIN-BETA 1; PCDHB1
606328 PROTOCADHERIN-BETA 2; PCDHB2
606329 PROTOCADHERIN-BETA 3; PCDHB3
606330 PROTOCADHERIN-BETA 4; PCDHB4
606331 PROTOCADHERIN-BETA 5; PCDHB5
606332 PROTOCADHERIN-BETA 6; PCDHB6
606333 PROTOCADHERIN-BETA 7; PCDHB7
606334 PROTOCADHERIN-BETA 8; PCDHB8
606335 PROTOCADHERIN-BETA 9; PCDHB9
606336 PROTOCADHERIN-BETA 10; PCDHB10
606337 PROTOCADHERIN-BETA 11; PCDHB11
606338 PROTOCADHERIN-BETA 12; PCDHB12
606339 PROTOCADHERIN-BETA 13; PCDHB13
606340 PROTOCADHERIN-BETA 14; PCDHB14
606341 PROTOCADHERIN-BETA 15; PCDHB15
608548 HEMICENTIN; HMCN1
608771 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 2; THRAP2
608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1
610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
611526 NUCLEOLAR PROTEIN 14; NOL14

October 12, 2007

New Entries:

611525 POLYMERASE (DNA-DIRECTED), DELTA 4; POLD4
611526 NUCLEOLAR PROTEIN 14; NOL14
611527 Na+/H+ EXCHANGER DOMAIN-CONTAINING 1; NHEDC1
611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
611529 CYTOCHROME P450, FAMILY 2, SUBFAMILY S, POLYPEPTIDE 1; CYP2S1

Changed Entries:

107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1
131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR
142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G
156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2
173325 JUNCTION PLAKOGLOBIN; JUP
174761 POLYMERASE (DNA-DIRECTED), DELTA 1, CATALYTIC SUBUNIT; POLD1
180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65
180200 RETINOBLASTOMA; RB1
192320 VASOACTIVE INTESTINAL PEPTIDE; VIP
259775 RAINE SYNDROME; RNS
312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
600477 SOLUTE CARRIER FAMILY 9, ISOFORM A5; SLC9A5
600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME
600815 POLYMERASE (DNA-DIRECTED), DELTA 2, REGULATORY SUBUNIT; POLD2
602287 ENDOPLASMIC RETICULUM PROTEIN, 29-KD; ERP29
602863 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9A; WNT9A
604966 PROTOCADHERIN-ALPHA GENE CLUSTER
604967 PROTOCADHERIN-BETA GENE CLUSTER
605248 MUCOLIPIN 1; MCOLN1
606307 PROTOCADHERIN-ALPHA 1; PCDHA1
606308 PROTOCADHERIN-ALPHA 2; PCDHA2
606309 PROTOCADHERIN-ALPHA 3; PCDHA3
606310 PROTOCADHERIN-ALPHA 4; PCDHA4
606311 PROTOCADHERIN-ALPHA 5; PCDHA5
606312 PROTOCADHERIN-ALPHA 6; PCDHA6
606313 PROTOCADHERIN-ALPHA 7; PCDHA7
606314 PROTOCADHERIN-ALPHA 8; PCDHA8
606315 PROTOCADHERIN-ALPHA 9; PCDHA9
606316 PROTOCADHERIN-ALPHA 10; PCDHA10
606317 PROTOCADHERIN-ALPHA 11; PCDHA11
606318 PROTOCADHERIN-ALPHA 12; PCDHA12
606319 PROTOCADHERIN-ALPHA 13; PCDHA13
606320 PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 1; PCDHAC1
606321 PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 2; PCDHAC2
607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1
607643 FASCIN, SEA URCHIN, HOMOLOG OF, 2; FSCN2
609507 TOPOISOMERASE I-BINDING ARGININE/SERINE-RICH PROTEIN; TOPORS
609923 RETINITIS PIGMENTOSA 31; RP31
610642 ENDOPLASMIC RETICULUM PROTEIN, 27-KD; ERP27
611061 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C
611415 POLYMERASE (DNA-DIRECTED), DELTA 3, ACCESSORY SUBUNIT; POLD3
611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6
Clinical Synopsis for 181000 SARCOIDOSIS
Clinical Synopsis for 210000 BEHR SYNDROME

October 11, 2007

New Entries:

300681 DEDICATOR OF CYTOKINESIS 11; DOCK11
611519 POLYMERASE DELTA-INTERACTING PROTEIN 2; POLDIP2
611520 POLYMERASE DELTA-INTERACTING PROTEIN 3; POLDIP3
611521 PROTEIN-TYROSINE KINASE 2 DEFICIENCY
611522 INTRAOCULAR PRESSURE QUANTITATIVE TRAIT LOCUS; IOPQTL
611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6
611524 ARGINYL-tRNA SYNTHETASE 2; RARS2
Clinical Synopsis for 300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Changed Entries:

103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2
107820 ARGINYL-tRNA SYNTHETASE 1; RARS1
114800 CARBONIC ANHYDRASE I; CA1
123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1
154045 LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2
176941 PROTEIN-TYROSINE KINASE 2; TYK2
179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS
211750 C SYNDROME
225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA
535000 LEBER OPTIC ATROPHY
590005 TRANSFER RNA, MITOCHONDRIAL, ARGININE; MTTR
603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A
604967 PROTOCADHERIN-BETA GENE CLUSTER
605039 C-LIKE SYNDROME
606037 CD96 ANTIGEN; CD96
607325 DEDICATOR OF CYTOKINESIS 9; DOCK9
608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY
611376 MUNGAN SYNDROME; MGS
611492 CARBONIC ANHYDRASE II; CA2
611521 PROTEIN-TYROSINE KINASE 2 DEFICIENCY
611524 ARGINYL-tRNA SYNTHETASE 2; RARS2
Clinical Synopsis for 255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE

October 10, 2007

New Entries:

611499 BETA-GLUCURONIDASE; GUSB
611516 NICOLIN 1; NICN1
611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11
611518 DEDICATOR OF CYTOKINESIS 10; DOCK10

Changed Entries:

102530 GLOBOZOOSPERMIA
112261 BONE MORPHOGENETIC PROTEIN 2; BMP2
113810 DYSTONIN; DST
114050 CALBINDIN 1; CALB1
114750 CARBONIC ANHYDRASE III; CA3
114780 CARBONIC ANHYDRASE VI; CA6
168820 PARAOXONASE 1; PON1
172470 PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1; PHKG1
209850 AUTISM
219700 CYSTIC FIBROSIS; CF
229600 FRUCTOSE INTOLERANCE, HEREDITARY
231610 REMOVED FROM DATABASE
235200 HEMOCHROMATOSIS; HFE
248900 MAST SYNDROME
253220 MUCOPOLYSACCHARIDOSIS TYPE VII
257980 ODONTOONYCHODERMAL DYSPLASIA; OODD
259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
300230 CARBONIC ANHYDRASE VB, MITOCHONDRIAL; CA5B
600164 GTP-BINDING MITOGEN-INDUCED T-CELL PROTEIN; GEM
601665 OBESITY
604592 T CELL IMMUNE REGULATOR 1; TCIRG1
604824 KLOTHO; KL
604943 SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5
606268 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A
606679 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5;
607325 DEDICATOR OF CYTOKINESIS 9; DOCK9
607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1
608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3
609856 SPERMATOGENESIS-ASSOCIATED PROTEIN 16; SPATA16
610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO
611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12
611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6
611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7
611094 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8; MRT8
611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9; MRT9
611096 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10; MRT10
611097 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11; MRT11
611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4; MRT4
611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11
Clinical Synopsis for 231610 REMOVED FROM DATABASE
Clinical Synopsis for 253220 MUCOPOLYSACCHARIDOSIS TYPE VII
Clinical Synopsis for 276901 USHER SYNDROME, TYPE IIA; USH2A

October 9, 2007

New Entries:

300680 PREGNANCY-UPREGULATED, NONUBIQUITOUS, CAM KINASE; PNCK

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP
116957 RETINOBLASTOMA-LIKE 1; RBL1
123400 CREUTZFELDT-JAKOB DISEASE; CJD
138244 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 2; GRIK2
147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
170280 PERFORIN 1; PRF1
176640 PRION PROTEIN; PRNP
180200 RETINOBLASTOMA; RB1
180203 RETINOBLASTOMA-LIKE 2; RBL2
190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1
243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE
266300 HAIR COLOR 2; HCL2
602600 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 8; LRP8
604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1
605494 INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP
607099 MBD2-INTERACTING ZINC FINGER PROTEIN; MIZF
607358 AUTOIMMUNE REGULATOR; AIRE
607957 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-DELTA; CAMK1D
608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1
609130 APOPTOSIS-INDUCING, TAF9-LIKE DOMAIN 1; APITD1
610152 CENTROMERIC PROTEIN M; CENPM
611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6; MRT6
611153 XPA GENE; XPA
611509 CENTROMERIC PROTEIN N; CENPN
611510 CENTROMERIC PROTEIN T; CENPT
611511 MLF1-INTERACTING PROTEIN; MLF1IP
Clinical Synopsis for 253010 MORQUIO SYNDROME B

October 8, 2007

New Entries:

611504 CENTROMERIC PROTEIN O; CENPO
611505 CENTROMERIC PROTEIN P; CENPP
611506 CENTROMERIC PROTEIN Q; CENPQ
611509 CENTROMERE PROTEIN N; CENPN
611510 CENTROMERE PROTEIN T; CENPT
611511 MLF1-INTERACTING PROTEIN; MLF1IP
611512 JUMONJI DOMAIN-CONTAINING PROTEIN 1A; JMJD1A
611513 NEUROGENIC DIFFERENTIATION 6; NEUROD6
611514 G PROTEIN-COUPLED RECEPTOR 177; GPR177

Changed Entries:

102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1
137440 GERSTMANN-STRAUSSLER DISEASE; GSD
145500 HYPERTENSION, ESSENTIAL
168600 PARKINSON DISEASE; PD
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
225750 AICARDI-GOUTIERES SYNDROME 1; AGS1
300065 CENTROMERIC PROTEIN I; CENPI
600733 INSULIN PROMOTER FACTOR 1; IPF1
600754 MATRIX METALLOPROTEINASE 14; MMP14
601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK
602302 HAIRLESS, MOUSE, HOMOLOG OF; HR
605494 INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP
606034 RIBONUCLEASE H2, SUBUNIT A; RNASEH2A
606349 GAMBLING, PATHOLOGIC
606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1
607272 KINETOCHORE-ASSOCIATED PROTEIN 2; KNTC2
608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX
609130 APOPTOSIS-INDUCING, TAF9-LIKE DOMAIN 1; APITD1
609373 JUMONJI DOMAIN-CONTAINING PROTEIN 1B; JMJD1B
609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A
610152 CENTROMERE PROTEIN M; CENPM
610326 RIBONUCLEASE H2, SUBUNIT B; RNASEH2B
610330 RIBONUCLEASE H2, SUBUNIT C; RNASEH2C
610448 CHILBLAIN LUPUS; CHBL
611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9
611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
611513 NEUROGENIC DIFFERENTIATION 6; NEUROD6

October 5, 2007

New Entries:

611501 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1; CAMTA1
611502 CENTROMERIC PROTEIN K; CENPK
611503 CENTROMERIC PROTEIN L; CENPL
611507 CDGSH IRON SULFUR DOMAIN PROTEIN 2; CISD2
611508 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 2; CAMTA2

Changed Entries:

201000 CARPENTER SYNDROME
222300 WOLFRAM SYNDROME 1; WFS1
300307 T-BOX 22; TBX22
600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2
600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1
601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN
601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1
602113 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2
604928 WOLFRAM SYNDROME 2; WFS2
606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1
606144 RAS-ASSOCIATED PROTEIN RAB23; RAB23
606834 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 4
611502 CENTROMERIC PROTEIN K; CENPK

October 4, 2007

New Entries:

611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
611500 MICRO RNA 219-1; MIRN219-1

Changed Entries:

106410 ANKYRIN 2; ANK2
107400 PROTEASE INHIBITOR 1; PI
107410 PROTEASE INHIBITOR 1-LIKE; PIL
113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, 1; PFHBI1
114500 COLORECTAL CANCER; CRC
116952 CELL DIVISION CYCLE 42; CDC42
117139 CENTROMERIC PROTEIN A; CENPA
119915 CLUSTER HEADACHE, FAMILIAL
120700 COMPLEMENT COMPONENT 3; C3
122500 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 6; SERPINA6
127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
134370 COMPLEMENT FACTOR H; CFH
136630 MENTAL RETARDATION, FRA12A TYPE
141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1
143100 HUNTINGTON DISEASE; HD
147935 PROTEASE INHIBITOR 4; PI4
152430 LONGEVITY
153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF
164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1
174763 POLYMERASE, DNA, GAMMA; POLG
176780 PELVIC ORGAN PROLAPSE
178500 PULMONARY FIBROSIS, IDIOPATHIC
180381 G PROTEIN-DEPENDENT RECEPTOR KINASE 1; GRK1
186357 SYNDECAN 3; SDC3
191060 TRYPTOPHAN HYDROXYLASE 1; TPH1
213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1
217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
230600 GM1-GANGLIOSIDOSIS, TYPE II
230650 GM1-GANGLIOSIDOSIS, TYPE III
242300 ICHTHYOSIS, LAMELLAR, 1; LI1
245400 LACTIC ACIDOSIS, FATAL INFANTILE
246530 LEUKOTRIENE C4 SYNTHASE; LTC4S
253010 MORQUIO SYNDROME B
259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5
300279 MOVED TO 300260
300410 ANGIOMOTIN; AMOT
300458 MOVED TO 300055
300553 BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3
300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
300659 MENTAL RETARDATION, X-LINKED 93; MRX93
300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
305600 FOCAL DERMAL HYPOPLASIA; FDH
308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
311360 PREMATURE OVARIAN FAILURE 1; POF1
590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1
590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1
600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1
600105 RETINITIS PIGMENTOSA 12; RP12
600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2
600779 MOVED TO 164874
600807 ASTHMA, SUSCEPTIBILITY TO
600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR
601665 OBESITY
601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4
601753 PEPTIDYL-PROLYL ISOMERASE D; PPID
602026 PHYTANOYL-CoA HYDROXYLASE; PHYH
602194 HTRA SERINE PEPTIDASE 1; HTRA1
602393 HYPOCRETIN RECEPTOR 2; HCRTR2
602681 FORKHEAD BOX O3A; FOXO3A
603030 TOLL-LIKE RECEPTOR 4; TLR4
603151 SEPTIN 7; SEPT7
603337 DYNEIN, AXONEMAL, HEAVY CHAIN 8; DNAH8
603910 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT J; EIF3J
603912 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT H; EIF3H
603913 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT G; EIF3G
603914 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT F; EIF3F
603915 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT D; EIF3D
603916 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT C; EIF3C
603917 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT B; EIF3B
603958 REGULATORY FACTOR X, 4; RFX4
604486 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, MITOCHONDRIAL; PPIF
604537 LEBER CONGENITAL AMAUROSIS, TYPE V; LCA5
604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, 2; PFHBI2
604777 ICHTHYOSIS, LAMELLAR, 3; LI3
604780 ABHYDROLASE DOMAIN-CONTAINING 5; ABHD5
604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
605498 M-PHASE PHOSPHOPROTEIN 1; MPHOSPH1
605602 MYOZENIN 2; MYOZ2
606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2
606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
606935 RNA-BINDING MOTIF PROTEIN 17; RBM17
607711 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, A; DIP2A
608293 RHO GTPase-ACTIVATING PROTEIN 17; ARHGAP17
608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1
608702 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 3; NMNAT3
609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE; HCHWAD
609396 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE; PHLPP
609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO
609596 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT K; EIF3K
609641 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M
609784 UPSTREAM BINDING PROTEIN 1; UBP1
610016 MICRO RNA 132; MIRN132
611109 CINNAMON ODOR, PLEASANTNESS OF
611112 DAPPER, ANTAGONIST OF BETA-CATENIN, 3; DACT3
611113 CEMENTUM PROTEIN 1; CEMP1
611115 VON WILLEBRAND FACTOR C AND EGF DOMAIN-CONTAINING PROTEIN; VWCE
611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1
611118 NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL
611119 KELCH-LIKE 7; KLHL7
611120 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3
611121 CALMIN; CLMN
611122 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 28; ANKRD28
611123 EPHRIN RECEPTOR EphA10; EPHA10
611125 DERMATAN SULFATE EPIMERASE-LIKE; DSEL
611127 UBIQUITIN-LIKE 4B; UBL4B
611128 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2; MDGA2
611129 CHROMOSOME 10 OPEN READING FRAME 26; C10ORF26
611130 CHMP FAMILY, MEMBER 7; CHMP7
611132 RIBOKINASE; RBKS
611133 SMALL NUCLEOLAR RNA, C/D BOX, 82; SNORD82
611135 KLOTHO, BETA; KLB
611136 EPILEPSY, CHILDHOOD ABSENCE, 4; ECA4
611137 PROTEASOME SUBUNIT, BETA-TYPE, 11
611138 SPERMATID PERINUCLEAR RNA-BINDING PROTEIN; STRBP
611150 ATAXIN 10; ATXN10
611152 ALZHEIMER DISEASE 13; AD13
611153 XPA GENE; XPA
611155 ALZHEIMER DISEASE 15; AD15
611177 INTRAFLAGELLAR TRANSPORT 80, CHLAMYDOMONAS, HOMOLOG OF; IFT80
611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G
611210 PDZ-BINDING KINASE; PBK
611223 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 3; AKT3
611224 SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT; SUCLG1
611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J
611263 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2
611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
611302 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE; SPAX2
611313 LOC387715 GENE
611363 ATRIAL SEPTAL DEFECT 4; ASD4
611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9
611379 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, B; DIP2B
611380 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, C; DIP2C
611408 LCA5 GENE; LCA5
611412 N-ACETYLNEURAMINATE PYRUVATE LYASE; NPL
611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
611458 GALACTOSIDASE, BETA-1; GLB1
611466 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1;
611483 YIP1 DOMAIN FAMILY, MEMBER 5; YIPF5
611484 YIP1-INTERACTING FACTOR, S. CEREVISIAE, HOMOLOG OF, A; YIF1A
611488 MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10
611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4
611491 RAP GTPase INTERACTOR
611492 CARBONIC ANHYDRASE II; CA2
611495 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22; CYP4F22
611496 GATA-BINDING PROTEIN 5; GATA5
611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6
Clinical Synopsis for 606693 KUFOR-RAKEB SYNDROME; KRS

October 3, 2007

New Entries:

611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4
611492 CARBONIC ANHYDRASE II; CA2
611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4
611494 ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5
611495 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22; CYP4F22
611496 GATA-BINDING PROTEIN 5; GATA5
611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP
106150 ANGIOTENSIN I; AGT
108770 ATRIAL STANDSTILL
116890 CATHEPSIN E; CTSE
121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5
136440 FOLLICULAR LYMPHOMA VARIANT TRANSLOCATION 1; FVT1
142410 TRANSCRIPTION FACTOR 1; TCF1
155600 MELANOMA, CUTANEOUS MALIGNANT; CMM
160900 DYSTROPHIA MYOTONICA 1
166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO
190195 TRANSGLUTAMINASE 1; TGM1
224300 DYSOSTEOSCLEROSIS
242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1
242300 ICHTHYOSIS, LAMELLAR, 1; LI1
259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2
259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5
259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
265800 PYCNODYSOSTOSIS
267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS
275630 CHANARIN-DORFMAN SYNDROME; CDS
600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D
600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY
600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
601277 ICHTHYOSIS, LAMELLAR, 2; LI2
602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11
602727 CHLORIDE CHANNEL 7; CLCN7
603202 LACTASE; LCT
603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5
603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;
604592 T CELL IMMUNE REGULATOR 1; TCIRG1
604777 ICHTHYOSIS, LAMELLAR, 3; LI3
604780 ABHYDROLASE DOMAIN-CONTAINING 5; ABHD5
606545 ICHTHYOSIS, LAMELLAR, 5; LI5
607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3; POU2F3
607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1
607554 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1
607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1
607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12
608201 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2
608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1
608988 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2
609393 KRUPPEL-LIKE FACTOR 14; KLF14
611466 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1;
611496 GATA-BINDING PROTEIN 5; GATA5

October 2, 2007

New Entries:

611483 YIP1 DOMAIN FAMILY, MEMBER 5; YIPF5
611491 RAP GTPase INTERACTOR

Changed Entries:

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1
120420 COLONY-STIMULATING FACTOR 1; CSF1
134797 FIBRILLIN 1; FBN1
138945 GRANULIN; GRN
154700 MARFAN SYNDROME; MFS
164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA
167411 PAIRED BOX GENE 1; PAX1
173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1
176270 PRADER-WILLI SYNDROME; PWS
176730 INSULIN; INS
182205 SEX HORMONE-BINDING GLOBULIN; SHBG
185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB
186357 SYNDECAN 3; SDC3
189971 E2F TRANSCRIPTION FACTOR 1; E2F1
190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
230600 GM1-GANGLIOSIDOSIS, TYPE II
230650 GM1-GANGLIOSIDOSIS, TYPE III
600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2
600274 FRONTOTEMPORAL DEMENTIA; FTD
600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST
600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2
600871 GROWTH FACTOR-INDEPENDENT 1; GFI1
601059 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR
601665 OBESITY
602039 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT A; EIF3A
602113 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2
602210 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT E; EIF3E
602912 EUKARYOTIC TRANSLATION INITIATION FACTOR 6; EIF6
603516 SPINOCEREBELLAR ATAXIA 10; SCA10
603910 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT J; EIF3J
603911 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT I; EIF3I
603912 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT H; EIF3H
603913 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT G; EIF3G
603914 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT F; EIF3F
603915 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT D; EIF3D
603916 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT C; EIF3C
603917 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT B; EIF3B
604383 GROWTH FACTOR-INDEPENDENT 1B; GFI1B
604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1
607240 SET DOMAIN-CONTAINING PROTEIN 8; SETD8
607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;
607675 REST COREPRESSOR; RCOR
607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP
609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2
609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
609596 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT K; EIF3K
609641 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M
609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2
611458 GALACTOSIDASE, BETA-1; GLB1
611484 YIP1-INTERACTING FACTOR, S. CEREVISIAE, HOMOLOG OF, A; YIF1A
Clinical Synopsis for 230500 GM1-GANGLIOSIDOSIS, TYPE I

October 1, 2007

New Entries:

611458 GALACTOSIDASE, BETA-1; GLB1
611475 RNA POLYMERASE II-ASSOCIATED PROTEIN 1; RPAP1
611476 RNA POLYMERASE II-ASSOCIATED PROTEIN 2; RPAP2
611477 RNA POLYMERASE II-ASSOCIATED PROTEIN 3; RPAP3
611478 METHYLPHOSPHATE CAPPING ENZYME; MEPCE
611479 XPA-BINDING PROTEIN 1; XAB1
611480 PIH1 DOMAIN-CONTAINING PROTEIN 1; PIH1D1
611484 RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO, 3; RA3
611488 MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10

Changed Entries:

138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR
146738 INSULIN-LIKE 3; INSL3
152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE
165195 OPIOID RECEPTOR, DELTA-1; OPRD1
165196 OPIOID RECEPTOR, KAPPA-1; OPRK1
180300 RHEUMATOID ARTHRITIS; RA
194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1
230500 GM1-GANGLIOSIDOSIS, TYPE I
230600 GM1-GANGLIOSIDOSIS, TYPE II
230650 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III
245200 KRABBE DISEASE
253010 MORQUIO SYNDROME B
256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY
268800 SANDHOFF DISEASE
272800 TAY-SACHS DISEASE; TSD
600018 OPIOID RECEPTOR, MU-1; OPRM1
600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4
600940 LIGASE III, DNA, ATP-DEPENDENT; LIG3
601506 SEPTIN 2; SEPT2
603030 TOLL-LIKE RECEPTOR 4; TLR4
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
603151 SEPTIN 7; SEPT7
603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2
605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8
606515 RNA, 7SK SMALL NUCLEAR; RN7SK
606869 HEXOSAMINIDASE A; HEXA
607014 HURLER SYNDROME
611153 XPA GENE; XPA
611453 DYSBINDIN DOMAIN-CONTAINING 2; DBNDD2
611457 FORKHEAD BOX O6
611462 CHROMOSOME 17 OPEN READING FRAME 38; C17ORF38
611463 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 2; SAT2
611467 GUANYLATE-BINDING PROTEIN 5: GBP5
611471 ACID PHOSPHATASE 6, LYSOPHOSPHATIDE; ACP6
611478 METHYLPHOSPHATE CAPPING ENZYME; MEPCE
611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12

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