OMIM Update List for February, 2007

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Nucleotide

Protein

Genome

OMIM Update List for February, 2007

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February 28, 2007
New Entries:: 300641 SOLUTE CARRIER FAMILY 25, MEMBER 43; SLC25A43; 610815 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, FOLATE), MEMBER 32;; 610816 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 33; SLC25A33; 610817 SOLUTE CARRIER FAMILY 25, MEMBER 34; SLC25A34; 610818 SOLUTE CARRIER FAMILY 25, MEMBER 35; SLC25A35; 610819 SOLUTE CARRIER FAMILY 25, MEMBER 38; SLC25A38; 610820 SOLUTE CARRIER FAMILY 25, MEMBER 39; SLC25A39; 610821 SOLUTE CARRIER FAMILY 25, MEMBER 40; SLC25A40; 610822 SOLUTE CARRIER FAMILY 25, MEMBER 41; SLC25A41; 610823 SOLUTE CARRIER FAMILY 25, MEMBER 42; SLC25A42; 610824 SOLUTE CARRIER FAMILY 25, MEMBER 44; SLC25A44; 610825 SOLUTE CARRIER FAMILY 25, MEMBER 45; SLC25A45; 610826 SOLUTE CARRIER FAMILY 25, MEMBER 46; SLC25A46
Changed Entries:: 116805 CATENIN, ALPHA-1; CTNNA1; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 123580 CRYSTALLIN, ALPHA-A; CRYAA; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 146738 INSULIN-LIKE 3; INSL3; 164160 LEPTIN; LEP; 176830 PROOPIOMELANOCORTIN; POMC; 219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL; 276900 USHER SYNDROME, TYPE I; 300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY; 300391 AMELOGENIN; AMELX; 300636 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA; 601199 CALCIUM-SENSING RECEPTOR; CASR; 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6; 605402 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1; 605514 PROTOCADHERIN 15; PCDH15; 607393 HRPT2 GENE; HRPT2; 607929 CCM2 GENE; CCM2; 610387 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL IRON CARRIER), MEMBER 37;; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; 610815 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, FOLATE), MEMBER 32;; 610816 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 33; SLC25A33; Clinical Synopsis for 224300 DYSOSTEOSCLEROSIS; Clinical Synopsis for 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC

February 27, 2007
New Entries:: 610804 SOLUTE CARRIER FAMILY 35 (UDP-GLUCURONIC ACID/UDP-N-ACETYLGALACTOSAMINE; 610805 RENAL HYPODYSPLASIA, NONSYNDROMIC, 1; 610806 TBC1 DOMAIN FAMILY, MEMBER 3C; TBC1D3C; 610807 TBC1 DOMAIN FAMILY, MEMBER 3D; TBC1D3D; 610808 TBC1 DOMAIN FAMILY, MEMBER 3E; TBC1D3E; 610809 TBC1 DOMAIN FAMILY, MEMBER 3F; TBC1D3F; 610810 TBC1 DOMAIN FAMILY, MEMBER 3G; TBC1D3G; 610811 TBC1 DOMAIN FAMILY, MEMBER 3H; TBC1D3H; 610812 HYDIN, MOUSE, HOMOLOG OF; HYDIN; 610813 HYDIN, MOUSE, HOMOLOG OF, 2; HYDIN2; 610814 ANOPHTHALMIA, SYNDROMIC, WITH MILD FACIAL DYSMORPHISM AND NORMAL INTRAUTERINE; Clinical Synopsis for 276905 USHER SYNDROME, TYPE IIB; USH2B; Clinical Synopsis for 605472 USHER SYNDROME, TYPE IIC; USH2C; Clinical Synopsis for 606943 USHER SYNDROME, TYPE IG; USH1G
Changed Entries:: 116805 CATENIN, ALPHA-1; CTNNA1; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1; 276905 USHER SYNDROME, TYPE IIB; USH2B; 277590 WEAVER SYNDROME; 600075 TATA BOX-BINDING PROTEIN; TBP; 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602431 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2; 604241 CD2-ASSOCIATED PROTEIN; CD2AP; 605472 USHER SYNDROME, TYPE IIC; USH2C; 606765 THYROID PEROXIDASE; TPO; 606943 USHER SYNDROME, TYPE IG; USH1G; 607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM; 607741 TBC1 DOMAIN FAMILY, MEMBER 3; TBC1D3; 610144 TBC1 DOMAIN FAMILY, MEMBER 3B; TBC1D3B; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; Clinical Synopsis for 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR; Clinical Synopsis for 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; Clinical Synopsis for 163400 NIEVERGELT SYNDROME; Clinical Synopsis for 191480 UNCOMBABLE HAIR SYNDROME; Clinical Synopsis for 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND; Clinical Synopsis for 194300 WOOLLY HAIR, AUTOSOMAL DOMINANT; Clinical Synopsis for 276901 USHER SYNDROME, TYPE IIA; USH2A; Clinical Synopsis for 276902 USHER SYNDROME, TYPE III; USH3; Clinical Synopsis for 276904 USHER SYNDROME, TYPE IC; USH1C; Clinical Synopsis for 601067 USHER SYNDROME, TYPE ID; USH1D; Clinical Synopsis for 602083 USHER SYNDROME, TYPE IF; USH1F; Clinical Synopsis for 602097 USHER SYNDROME, TYPE IE; USH1E

February 26, 2007
New Entries:: 300640 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2; 610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1; 610800 AUTOPHAGY 10, S. CEREVISIAE, HOMOLOG OF; ATG10; 610801 SOLUTE CARRIER FAMILY 41, MEMBER 1; SLC41A1; 610802 SOLUTE CARRIER FAMILY 41, MEMBER 2; SLC41A2; 610803 SOLUTE CARRIER FAMILY 41, MEMBER 3; SLC41A3
Changed Entries:: 109091 CALRETICULIN; CALR; 109092 TRIPARTITE MOTIF-CONTAINING PROTEIN 21; TRIM21; 138960 COLONY-STIMULATING FACTOR 2; CSF2; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA; 180860 SILVER-RUSSELL SYNDROME; SRS; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 600063 TROVE DOMAIN FAMILY, MEMBER 2; TROVE2; 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4; 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11;; 610801 SOLUTE CARRIER FAMILY 41, MEMBER 1; SLC41A1

February 23, 2007
New Entries:: 610795 SORBIN AND SH3 DOMAINS-CONTAINING 3; SORBS3; 610797 EPIPHYSEAL DYSPLASIA, BAUMANN TYPE; 610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN; Clinical Synopsis for 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;
Changed Entries:: 113705 BREAST CANCER 1 GENE; BRCA1; 114240 CALPAIN 3; CAPN3; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS; 143100 HUNTINGTON DISEASE; HD; 144700 RENAL CELL CARCINOMA 1; RCC1; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 160900 DYSTROPHIA MYOTONICA 1; 164160 LEPTIN; LEP; 192350 VATER ASSOCIATION; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS; 600018 OPIOID RECEPTOR, MU-1; OPRM1; 600185 BREAST CANCER 2 GENE; BRCA2; 600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1; 602668 DYSTROPHIA MYOTONICA 2; DM2; 603044 PLEOMORPHIC ADENOMA GENE-LIKE 1; PLAGL1; 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;; 605051 CANNABINOID RECEPTOR 2; CNR2; 605264 SORBIN AND SH3-DOMAINS CONTAINING 1; SORBS1; 605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1; 610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2; 610389 MAPBP-INTERACTING PROTEIN; 610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3; 610795 SORBIN AND SH3 DOMAINS-CONTAINING 3; SORBS3; Clinical Synopsis for 133780 EXUDATIVE VITREORETINOPATHY 1; EVR1; Clinical Synopsis for 144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS; Clinical Synopsis for 147750 IVIC SYNDROME; Clinical Synopsis for 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; Clinical Synopsis for 164180 OCULOCEREBROCUTANEOUS SYNDROME; Clinical Synopsis for 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; Clinical Synopsis for 192500 LONG QT SYNDROME 1; LQT1; Clinical Synopsis for 603830 LONG QT SYNDROME 3; LQT3

February 22, 2007
New Entries:: 610768 DOLICHOL KINASE DEFICIENCY; 610788 SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE; 610789 p53 AND DNA DAMAGE-REGULATED 1; PDRG1; 610790 SOLUTE CARRIER FAMILY 35, MEMBER B1; SLC35B1; 610791 SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 2;; 610792 ORGANIC ANION TRANSPORTER UST6; 610793 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, KIDNEY), MEMBER 30;; 610794 ZINC FINGER PROTEIN 323; ZNF323; 610796 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; Clinical Synopsis for 222448 DONNAI-BARROW SYNDROME; Clinical Synopsis for 601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE; Clinical Synopsis for 604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE; Clinical Synopsis for 605156 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA; Clinical Synopsis for 609384 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B; CFEOM3B; Clinical Synopsis for 609616 SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE
Changed Entries:: 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147557 INTEGRIN, BETA-4; ITGB4; 163890 SYNUCLEIN, ALPHA; SNCA; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 168600 PARKINSON DISEASE; PD; 222448 DONNAI-BARROW SYNDROME; 300013 N-ACETYLTRANSFERASE ARD1, S. CEREVISIAE, HOMOLOG OF, A; ARD1A; 300150 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; 300151 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; 305371 GATA-BINDING PROTEIN 1; GATA1; 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3; 601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE; 601519 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT E;; 602544 PARKIN; PARK2; 603733 SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 1;; 604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE; 605156 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA; 605219 DIRECT IAP-BINDING PROTEIN WITH LOW pI; DIABLO; 605704 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAPB; 605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1; 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; 606463 GLUCOSIDASE, BETA, ACID; GBA; 606889 ALZHEIMER DISEASE 4; 607163 LYSYL OXIDASE-LIKE 3; LOXL3; 607579 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER; 607822 ALZHEIMER DISEASE 3; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609384 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B; CFEOM3B; 609407 HEPARAN SULFATE 3-O-SULFOTRANSFERASE 5; HS3ST5; 609616 SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE; 610746 TRANSMEMBRANE PROTEIN 15; TMEM15; 610783 MICRO RNA 29B1; MIRN29B1; 610789 p53 AND DNA DAMAGE-REGULATED 1; PDRG1; 610794 ZINC FINGER PROTEIN 323; ZNF323; Clinical Synopsis for 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; Clinical Synopsis for 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; OPTA2; Clinical Synopsis for 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME; Clinical Synopsis for 227290 FACIOOCULOACOUSTICORENAL SYNDROME; Clinical Synopsis for 228600 FIBROMATOSIS, JUVENILE HYALINE; Clinical Synopsis for 243310 IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION; Clinical Synopsis for 244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME; Clinical Synopsis for 248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA

February 21, 2007
New Entries:: 610779 NUCLEOTIDE-BINDING PROTEIN 2; NUBP2; 610780 LARGE SUBUNIT GTPase 1, S. CEREVISIAE, HOMOLOG OF; LSG1; 610781 GUANOSINE MONOPHOSPHATE REDUCTASE 2; GMPR2; 610782 MICRO RNA 29A; MIRN29A; 610783 MICRO RNA 29B; MIRN29B; 610784 MICRO RNA 29C; MIRN29C; 610785 PDLIM1-INTERACTING KINASE 1-LIKE; PDIK1L; 610786 SNAP25-INTERACTING PROTEIN; 610787 PROSTATE, RECTUM, AND COLON GENE 2; Clinical Synopsis for 607034 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A; CFEOM3A; Clinical Synopsis for 609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA; Clinical Synopsis for 609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES
Changed Entries:: 123400 CREUTZFELDT-JAKOB DISEASE; CJD; 139265 GUANOSINE MONOPHOSPHATE REDUCTASE; GMPR; 174763 POLYMERASE, DNA, GAMMA; POLG; 176640 PRION PROTEIN; PRNP; 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1; 186745 TALIN 1; TLN1; 193065 VINCULIN; VCL; 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS; 224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE; 224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH; 300159 THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X; 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB; 600076 TENSIN; TNS; 600280 NUCLEOTIDE-BINDING PROTEIN 1; NUBP1; 601112 THIOREDOXIN REDUCTASE 1; TXNRD1; 601339 MOVED TO 601112; 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3; 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11; 604299 ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE; 604748 SRY-BOX 13; SOX13; 605290 OPA1 GENE; OPA1; 606235 THIOREDOXIN REDUCTASE 3; TXNRD3; 606448 THIOREDOXIN REDUCTASE 2; TXNRD2; 606461 TRIMETHYLGUANOSINE SYNTHASE, S. CEREVISIAE, HOMOLOG OF; TGS1; 606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES; 607034 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A; CFEOM3A; 608000 NMDA RECEPTOR-REGULATED 1; NARG1; 608237 GALACTOSE-3-O-SULFOTRANSFERASE 2; GAL3ST2; 608327 STOMATIN-LIKE PROTEIN 3; STOML3; 608660 INSULIN-INDUCED GENE 2; INSIG2; 609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA; 609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES; 609819 PROSTATE, RECTUM, AND COLON GENE; 610780 LARGE SUBUNIT GTPase 1, S. CEREVISIAE, HOMOLOG OF; LSG1; 610781 GUANOSINE MONOPHOSPHATE REDUCTASE 2; GMPR2; 610785 PDLIM1-INTERACTING KINASE 1-LIKE; PDIK1L; 610787 PROSTATE, RECTUM, AND COLON GENE 2; Clinical Synopsis for 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1; Clinical Synopsis for 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH; Clinical Synopsis for 228600 FIBROMATOSIS, JUVENILE HYALINE; Clinical Synopsis for 259600 OSTEOLYSIS, HEREDITARY MULTICENTRIC; Clinical Synopsis for 313490 TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS; Clinical Synopsis for 600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2; Clinical Synopsis for 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3; CFEOM3; Clinical Synopsis for 600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3; Clinical Synopsis for 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5

February 20, 2007
New Entries:: 610764 BENZODIAZAPINE RECEPTOR (PERIPHERAL)-ASSOCIATED PROTEIN 1; BZRAP1; 610776 DAMAGE-REGULATED AUTOPHAGY MODULATOR; 610777 NEUROGUIDIN; NGDN; 610778 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1-LIKE; GNB1L
Changed Entries:: 103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2; 104740 AMYLOID BETA A4 PRECURSOR PROTEIN-LIKE 1; 116806 CATENIN, BETA-1; CTNNB1; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 182290 SMITH-MAGENIS SYNDROME; SMS; 254780 MYOCLONIC EPILEPSY OF LAFORA; 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB; 600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D; 600308 AQUAPORIN 4; AQP4; 602638 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 4; MCM4; 605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1; 605290 OPA1 GENE; OPA1; 606230 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3; 606231 ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE; 606232 CHROMOSOME 22q13.3 DELETION SYNDROME; 606448 THIOREDOXIN REDUCTASE 3; 606799 STROKE, SUSCEPTIBILITY TO, 1; 607566 EPM2A GENE; EPM2A; 607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; 608000 NMDA RECEPTOR-REGULATED 1; NARG1; 608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1; 610774 TRINUCLEOTIDE REPEAT-CONTAINING GENE 5; TNRC5; 610777 NEUROGUIDIN; NGDN; 610778 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1-LIKE; GNB1L; Clinical Synopsis for 187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10; Clinical Synopsis for 214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

February 19, 2007
New Entries:: 300639 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 2; MRXHF2; 610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY; 610774 TRINUCLEOTIDE REPEAT-CONTAINING GENE 5; TRNC5; 610775 TP53-INDUCED GLYCOLYSIS AND APOPTOSIS REGULATOR
Changed Entries:: 102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 150340 LAMIN B1; LMNB1; 161400 NARCOLEPSY 1; NRCLP1; 163950 NOONAN SYNDROME 1; NS1; 169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT; 182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 217070 COMPLEMENT COMPONENT 7; C7; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 300304 CULLIN 4B; CUL4B; 300506 TSC22 DOMAIN FAMILY, MEMBER 3; TSC22D3; 309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1; 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE; 545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF; 590070 TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF; 590085 TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2; 600185 BREAST CANCER 2 GENE; BRCA2; 600274 FRONTOTEMPORAL DEMENTIA; 600370 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 3; SLC25A3; 602358 HYPOCRETIN; HCRT; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 605204 TORSIN-A; DYT1; 605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;; 606797 SUPPRESSION OF TUMORIGENICITY 14; ST14; 607144 DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE; 607332 CHROMOSOME 5 OPEN READING FRAME 13; C5ORF13; 607715 TSC22 DOMAIN FAMILY, MEMBER 1; TSC22D1; 610733 NOONAN SYNDROME 4; NS4; Clinical Synopsis for 103285 ADULT SYNDROME; Clinical Synopsis for 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Clinical Synopsis for 263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES; Clinical Synopsis for 266270 RAMON SYNDROME; Clinical Synopsis for 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Clinical Synopsis for 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3; CFEOM3; Clinical Synopsis for 600721 D-2-@HYDROXYGLUTARIC ACIDURIA; Clinical Synopsis for 602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2; Clinical Synopsis for 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS

February 16, 2007
New Entries:: 610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; 610770 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 2, S. CEREVISIAE, HOMOLOG OF;; 610771 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 5; CHD5; 610772 NK6, DROSOPHILA, HOMOLOG OF, 3; NKX6-3
Changed Entries:: 161200 NAIL-PATELLA SYNDROME; NPS; 186730 T-CELL GLYCOPROTEIN CD8B; CD8B; 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A; 300127 OLIGOPHRENIN 1; OPHN1; 300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 604852 CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11; 605165 ZINC FINGER PROTEIN 278; ZNF278; 606797 SUPPRESSION OF TUMORIGENICITY 14; ST14; 610376 CHEMOKINE, CXC MOTIF, RECEPTOR 7; CXCR7; 610769 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 3, S. CEREVISIAE, HOMOLOG OF;; 610770 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 2, S. CEREVISIAE, HOMOLOG OF;; Clinical Synopsis for 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1

February 15, 2007
New Entries:: 610766 MEIOSIS-SPECIFIC NUCLEAR STRUCTURAL PROTEIN 1; MNS1; 610767 AUTOPHAGY 16-LIKE 1; ATG16L1; 610769 NUCLEOLAR COMPLEX-ASSOCIATED 3, S. CEREVISIAE, HOMOLOG OF; NOC3L
Changed Entries:: 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 134700 FAVISM, SUSCEPTIBILITY TO; 188000 THROMBOCYTOPENIA 2; THC2; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; 227600 FACTOR X DEFICIENCY; 300292 FORKHEAD BOX P3; FOXP3; 309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11; 603009 DYSFERLIN; DYSF; 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B; 604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; 604603 FER-1, C. ELEGANS, HOMOLOG-LIKE 3; FER1L3; 605018 CYLD GENE; CYLD1; 605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX; 606816 SID1 TRANSMEMBRANE FAMILY, MEMBER 1; SIDT1; 608552 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B; VPS33B; 609235 BR SERINE/THREONINE KINASE 1; BRSK1; 609236 BR SERINE/THREONINE KINASE 2; BRSK2; 609513 NEUROPEPTIDE S; 610520 CD300 ANTIGEN-LIKE FAMILY, MEMBER G; CD300LG; 610763 N-ACETYLNEURAMINIC ACID PHOSPHATASE; NANP

February 14, 2007
New Entries:: 610763 N-ACETYLNEURAMINIC ACID PHOSPHATASE; NANP; Clinical Synopsis for 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Clinical Synopsis for 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; Clinical Synopsis for 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS; Clinical Synopsis for 609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS
Changed Entries:: 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS; 609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS; Clinical Synopsis for 103285 ADULT SYNDROME; Clinical Synopsis for 112440 BRACHYDACTYLY, COMBINED B AND E TYPES; Clinical Synopsis for 135300 FIBROMATOSIS, GINGIVAL, 1; GINGF; Clinical Synopsis for 162200 NEUROFIBROMATOSIS, TYPE I; NF1; Clinical Synopsis for 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Clinical Synopsis for 185900 SYNDACTYLY, TYPE I; Clinical Synopsis for 186000 SYNPOLYDACTYLY 1; SPD1; Clinical Synopsis for 186200 SYNDACTYLY, TYPE IV; Clinical Synopsis for 186300 SYNDACTYLY, TYPE V; Clinical Synopsis for 211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM; Clinical Synopsis for 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; Clinical Synopsis for 254780 MYOCLONIC EPILEPSY OF LAFORA; Clinical Synopsis for 255980 NASODIGITOACOUSTIC SYNDROME; Clinical Synopsis for 266270 RAMON SYNDROME; Clinical Synopsis for 600721 D-2-@HYDROXYGLUTARIC ACIDURIA

February 13, 2007
New Entries:: 610759 CORNELIA DE LANGE SYNDROME 3; CDLS3; 610760 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2; 610761 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 610762 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS
Changed Entries:: 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1; 160900 DYSTROPHIA MYOTONICA 1; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1; 214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1; 231090 HYDATIDIFORM MOLE; 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A; 300590 CORNELIA DE LANGE SYNDROME 2; CDLS2; 313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 602054 T-BOX 1; TBX1; 604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; 606062 CHONDROITIN SULFATE PROTEOGLYCAN 6; CSPG6; 606478 PROTECTION OF TELOMERES 1; POT1; 607440 FCMD GENE; FCMD; 608667 NIPPED-B-LIKE; NIPBL; 609661 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 7;; 610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4; Clinical Synopsis for 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1; Clinical Synopsis for 214100 ZELLWEGER SYNDROME; ZS; Clinical Synopsis for 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; Clinical Synopsis for 263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES; Clinical Synopsis for 273050 TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM; Clinical Synopsis for 600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3; Clinical Synopsis for 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3; CFEOM3; Clinical Synopsis for 602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2

February 12, 2007
New Entries:: 610753 ALOPECIA AREATA 2; 610754 WINGS APART-LIKE PROTEIN, DROSOPHILA, HOMOLOG OF; WAPAL; 610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IB; MEN1B; 610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2; 610757 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 2; CCL4L2; 610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
Changed Entries:: 104000 ALOPECIA AREATA 1; 114835 CARBOXYLESTERASE 1; CES1; 126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2; 126380 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5; 155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC; 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A; 176977 PROTEIN KINASE C, DELTA; PRKCD; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1; 300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10; 300256 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X; HSD17B10; 300336 NEUROLIGIN 3; NLGN3; 300438 HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY; 309550 FMR1 GENE; FMR1; 314990 ZINC FINGER PROTEIN 711; ZNF711; 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B; 600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8; 601800 HAIR COLOR 3; HCL3; 603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 1; CCL4L1; 603827 BCL2-LIKE 11; BCL2L11; 605278 CARBOXYLESTERASE 2; CES2; 605279 CARBOXYLESTERASE 3; CES3; 606796 SUPPRESSION OF TUMORIGENICITY 13; ST13; 607820 HOOK, DROSOPHILA, HOMOLOG OF, 1; 610200 MITOCHONDRIAL RIBOSOMAL PROTEIN L13; MRPL13; 610753 ALOPECIA AREATA 2; 610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2; Clinical Synopsis for 314990 ZINC FINGER PROTEIN 711; ZNF711

February 9, 2007
New Entries:: 610750 ZINC FINGER CCHC DOMAIN- AND RNA-BINDING MOTIF-CONTAINING PROTEIN; 610751 PHOSPHORIBOSYL TRANSFERASE DOMAIN-CONTAINING PROTEIN 1; PRTFDC1; 610752 URONYL 2-SULFOTRANSFERASE; UST
Changed Entries:: 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL; 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 227220 EYE COLOR 3; EYCL3; 227400 FACTOR V DEFICIENCY; 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX; 590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK; 600013 TRANSCRIPTION FACTOR YY1; YY1; 600880 BUDD-CHIARI SYNDROME; 601023 VALOSIN-CONTAINING PROTEIN; VCP; 601253 CAVEOLIN 3; CAV3; 601800 HAIR COLOR 3; HCL3; 601876 SPERM-SPECIFIC ANTIGEN 1; SSFA1; 601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1; 601934 G PROTEIN PATHWAY SUPPRESSOR 1; GPS1; 603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1; CARM1; 604167 CCCTC-BINDING FACTOR; CTCF; 605278 CARBOXYLESTERASE 2; CES2; 606072 RIPPLING MUSCLE DISEASE; RMD; 608687 SPINOCEREBELLAR ATAXIA 20; SCA20

February 8, 2007
New Entries:: Clinical Synopsis for 610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3
Changed Entries:: 100880 ACONITASE, SOLUBLE; ACO1; 103285 ADULT SYNDROME; 113705 BREAST CANCER 1 GENE; BRCA1; 114180 CALMODULIN 1; CALM1; 114181 MOVED TO 114180; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL; 164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1; 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2; 191170 TUMOR PROTEIN p53; TP53; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 277900 WILSON DISEASE; 300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,; 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2; 600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8; 601764 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1; 601930 BASONUCLIN 1; BNC1; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602529 TUBULIN, ALPHA-1A; TUBA1A; 602677 RING FINGER PROTEIN 5; RNF5; 602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1; 603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1; 604277 SPG4 GENE; SPG4; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 604786 ADP-RIBOSYLATION FACTOR-LIKE 4; ARL4; 604984 SERINE/THREONINE PROTEIN KINASE 24; STK24; 605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1; 606439 SPG3A GENE; SPG3A; 607207 STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1; TICAM1; 608177 EXOSTOSIN 1; EXT1; 608669 BASONUCLIN 2; BNC2; 608813 DER1-LIKE DOMAIN FAMILY, MEMBER 1; DERL1; 609327 MICRO RNA 124A1; MIRN124A1; 609337 BIC GENE; 609415 CHROMOSOME 13 OPEN READING FRAME 25; C13ORF25; 609416 MICRO RNA 17; MIRN17; 609421 MOVED TO 609416; 609591 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1; 610566 MICRO RNA 146A; MIRN146A; 610567 MICRO RNA 146B; MIRN146B; 610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3

February 7, 2007
New Entries:: 610747 STERILE ALPHA MOTIF DOMAIN-CONTAINING 4A; SAMD4A; 610748 UBIQUITIN-SPECIFIC PROTEASE 28; USP28; 610749 KELCH-LIKE 31; KLHL31
Changed Entries:: 133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3; 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 167416 PAIRED BOX GENE 9; PAX9; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176977 PROTEIN KINASE C, DELTA; PRKCD; 194520 REMOVED FROM DATABASE; 194530 REMOVED FROM DATABASE; 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX; 300637 G ANTIGEN 7B; GAGE7B; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 314990 ZINC FINGER PROTEIN 711; ZNF711; 601007 LEPTIN RECEPTOR; LEPR; 602598 PROSTAGLANDIN D2 SYNTHASE, HEMATOPOIETIC; 604167 CCCTC-BINDING FACTOR; CTCF; 604736 UBIQUITIN-SPECIFIC PROTEASE 25; USP25; 605774 KELCH-LIKE 2; KLHL2; 607962 MICRO RNA 23A; MIRN23A; 609417 MICRO RNA 18A; MIRN18A; 609420 MICRO RNA 20A; MIRN20A; 610104 MICRO RNA 125B1; MIRN125B1; 610105 MICRO RNA 125B2; MIRN125B2; 610722 MOVED TO 607962; 610723 MICRO RNA 23B; MIRN23B; 610749 KELCH-LIKE 31; KLHL31; Clinical Synopsis for 133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3

February 6, 2007
New Entries:: 300637 G ANTIGEN 7B; GAGE7B; 300638 G ANTIGEN 8; GAGE8; 610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6; 610746 TRANSMEMBRANE PROTEIN 15; TMEM15; Clinical Synopsis for 610204 OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET
Changed Entries:: 150325 LAMININ, BETA-2; LAMB2; 167416 PAIRED BOX GENE 9; PAX9; 185260 MATRIX METALLOPROTEINASE 10; MMP10; 300594 G ANTIGEN 1; GAGE1; 600239 G PROTEIN-COUPLED RECEPTOR 1; GPR1; 602480 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 3; POU3F3; 606542 HISTONE DEACETYLASE 7A; HDAC7A; 610204 OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET; Clinical Synopsis for 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; Clinical Synopsis for 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A; Clinical Synopsis for 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; Clinical Synopsis for 602077 REMOVED FROM DATABASE; Clinical Synopsis for 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; Clinical Synopsis for 605751 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2

February 5, 2007
New Entries:: 300636 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED; Clinical Synopsis for 610202 CATARACT, PULVERULENT, JUVENILE-ONSET
Changed Entries:: 103285 ADULT SYNDROME; 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; 182115 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 1; PSCD1; 188400 DIGEORGE SYNDROME; DGS; 190685 DOWN SYNDROME; 191170 TUMOR PROTEIN p53; TP53; 209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 601991 NEUROONCOLOGIC VENTRAL ANTIGEN 2; NOVA2; 602077 REMOVED FROM DATABASE; 602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1; 603157 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 2; PIK3R2; 603273 TUMOR PROTEIN p73-LIKE; TP73L; 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; 606029 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 3; CPSF3; 607170 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1; CRELD1; 608363 MICRODUPLICATION 22q11.2; 610031 POLYMICROGYRIA, UNILATERAL; 610202 CATARACT, PULVERULENT, JUVENILE-ONSET; 610663 SET AND MYND DOMAIN-CONTAINING PROTEIN 2; SMYD2; 610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2; 610730 CHAPERONIN-CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6B; CCT6B; Clinical Synopsis for 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL; Clinical Synopsis for 183086 SPINOCEREBELLAR ATAXIA 6; SCA6

February 4, 2007
Changed Entries:: 173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1; 603501 POLY(ADP-RIBOSE) GLYCOHYDROLASE; PARG; 603681 OTOFERLIN; OTOF

February 2, 2007
New Entries:: 610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8; 610744 IRIS PATTERN
Changed Entries:: 104150 ALPHA-FETOPROTEIN; AFP; 151623 LI-FRAUMENI SYNDROME 1; LFS1; 158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME; 160741 MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL; MYH8; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 227240 EYE COLOR 1; EYCL1; 255980 NASODIGITOACOUSTIC SYNDROME; 274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; 276410 TWINNING, MONOZYGOTIC; 300169 PROGRAMMED CELL DEATH 8; PDCD8; 300632 PDZ DOMAIN-CONTAINING 11; PDZD11; 600074 CD24 ANTIGEN; CD24; 600725 SONIC HEDGEHOG; SHH; 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B; 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 602849 MUENKE SYNDROME; 602992 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 1; LAIR1; 603313 ALG10, S. CEREVISIAE, HOMOLOG OF; ALG10; 604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT; 605658 INTERLEUKIN 25; IL25; 605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1; 606652 HEPATITIS A VIRUS CELLULAR RECEPTOR 2; HAVCR2; 607642 RETINOIC ACID-INDUCED GENE 1; RAI1; 607814 REGULATOR OF G PROTEIN SIGNALING 9-BINDING PROTEIN; RGS9BP; 608363 MICRODUPLICATION 22q11.2; 608441 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1; 608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12; 608837 CARNEY COMPLEX VARIANT; 609676 VIRUS-INDUCED SIGNALING ADAPTOR; 610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE, 3; SCN3; Clinical Synopsis for 118450 ALAGILLE SYNDROME 1; ALGS1; Clinical Synopsis for 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,; Clinical Synopsis for 148900 SEGMENTATION SYNDROME 1; SGM1; Clinical Synopsis for 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B; Clinical Synopsis for 184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; Clinical Synopsis for 200990 ACROCALLOSAL SYNDROME; ACLS; Clinical Synopsis for 213980 CEREBROFACIOTHORACIC DYSPLASIA; Clinical Synopsis for 225320 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM; Clinical Synopsis for 251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE; Clinical Synopsis for 257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA; Clinical Synopsis for 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; Clinical Synopsis for 265900 PYLE DISEASE; Clinical Synopsis for 269840 SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL; Clinical Synopsis for 273300 TESTICULAR TUMORS; Clinical Synopsis for 275630 CHANARIN-DORFMAN SYNDROME; CDS; Clinical Synopsis for 602473 ENCEPHALOPATHY, ETHYLMALONIC; Clinical Synopsis for 602535 MARSHALL-SMITH SYNDROME; Clinical Synopsis for 608637 SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE; Clinical Synopsis for 610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME

February 1, 2007
New Entries:: 610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE; SCN3
Changed Entries:: 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1; 117360 SPINOCEREBELLAR ATAXIA 29; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 130130 ELASTASE 2; ELA2; 138971 COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R; 162700 NEUTROPENIA, CHRONIC FAMILIAL; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1; 220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1; 275350 TRANSCOBALAMIN II DEFICIENCY; 300499 FTSJ HOMOLOG 1; FTSJ1; 300501 MOVED TO 309549; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 309549 MENTAL RETARDATION, X-LINKED 9; MRX9; 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1; 601007 LEPTIN RECEPTOR; LEPR; 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22; 601132 KINASE SUPPRESSOR OF RAS 1; KSR1; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602186 VGF, NERVE GROWTH FACTOR-INDUCIBLE; VGF; 602300 GALACTOSE-3-O-SULFOTRANSFERASE 1; GAL3ST1; 602378 DYNAMIN 2; DNM2; 602702 MANNOSE 6-PHOSPHATE RECEPTOR-BINDING PROTEIN 1; M6PRBP1; 603272 CONNECTOR ENHANCER OF KSR1; CNKSR1; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4; 605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1; 607320 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 4; RASGRP4; 607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 608234 GALACTOSE-3-O-SULFOTRANSFERASE 3; GAL3ST3; 608235 GALACTOSE-3-O-SULFOTRANSFERASE 4; GAL3ST4; 608237 GALACTOSE-3-O-SULFOTRANSFERASE 2; GAL3ST2; 608740 NFAT ACTIVATING PROTEIN WITH ITAM MOTIF 1; NFAM1; 608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2; 608986 TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 3; 609059 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2; 610705 CD300 ANTIGEN-LIKE FAMILY, MEMBER B; CD300LB; 610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA; 610707 PSORIASIS SUSCEPTIBILITY 8; 610708 OPTIC ATROPHY 5; OPA5; 610709 TESTIS-SPECIFIC SERINE/THREONINE KINASE 1; TSSK1; 610710 TESTIS-SPECIFIC SERINE/THREONINE KINASE 2; TSSK2; 610711 TESTIS-SPECIFIC SERINE/THREONINE KINASE 4; TSSK4; 610712 TESTIS-SPECIFIC SERINE/THREONINE KINASE 6; TSSK6; 610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME; 610715 HEMOGEN; HEMGN; 610716 TIMELESS-INTERACTING PROTEIN; TIPIN; 610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM; 610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3; 610726 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 1; TRUB1; 610727 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 2; TRUB2; 610728 SPHINGOMYELIN PHOSPHODIESTERASE, ACID-LIKE, 3A; SMPDL3A; 610729 LOC116143 GENE; 610730 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6B; CCT6B; 610731 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 7; ANKRD7; 610732 TETRATRICOPEPTIDE REPEAT DOMAIN 12; TTC12; 610733 NOONAN SYNDROME 4; NS4; 610734 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; ANKRD2; 610735 MYOZENIN 3; MYOZ3; 610736 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 23; ANKRD23; 610737 KINASE SUPPRESSOR OF RAS 2; KSR2; 610739 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6A; TNRC6A; 610740 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6B; TNRC6B; 610741 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6C; TNRC6C; 610742 MOLONEY LEUKEMIA VIRUS 10, MOUSE, HOMOLOG OF; MOV10

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