OMIM Update List for September, 2007

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Nucleotide

Protein

Genome

OMIM Update List for September, 2007

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September 29, 2007
New Entries:: 611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12; 611486 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1; SYCE1; 611487 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 2; SYCE2
Changed Entries:: 177650 PSEUDOEXFOLIATION OF THE LENS; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 601270 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 3; CYP4F3; 601652 MYOCILIN; MYOC; 603174 HOMOCYSTEINEMIA; 604232 LEBER CONGENITAL AMAUROSIS, TYPE III; 604426 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 2; CYP4F2; 611486 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1; SYCE1; 611487 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 2; SYCE2

September 28, 2007
New Entries:: 611473 EMBRYONIC STEM CELL-RELATED PROTEIN; 611474 HRAS-LIKE SUPPRESSOR FAMILY, MEMBER 5; HRASLS5; 611481 UFM1-SPECIFIC PROTEASE 1; 611482 CHROMOSOME 4 OPEN READING FRAME 20; C4ORF20
Changed Entries:: 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 131320 GATA-BINDING PROTEIN 3; GATA3; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 219700 CYSTIC FIBROSIS; CF; 228980 FLECK RETINA, FAMILIAL BENIGN; 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK; 601290 STRATIFIN; SFN; 602413 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN,; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 605660 PREFOLDIN 6; PFDN6; 606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; 610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1; 611481 UFM1-SPECIFIC PROTEASE 1; Clinical Synopsis for 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

September 27, 2007
New Entries:: 611465 GALLBLADDER DISEASE 4; 611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2; 611470 GLUTAMATE-AMMONIA LIGASE (GLUTAMINE SYNTHETASE) DOMAIN-CONTAINING; 611471 ACID PHOSPHATASE 6, LYSOPHOSPHATIDE; ACP6; 611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
Changed Entries:: 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 114240 CALPAIN 3; CAPN3; 114500 COLORECTAL CANCER; CRC; 118490 CHOLINE ACETYLTRANSFERASE; CHAT; 147720 INTERLEUKIN 1-BETA; IL1B; 147760 INTERLEUKIN 1-ALPHA; IL1A; 154950 MAX PROTEIN; MAX; 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1; 191160 TUMOR NECROSIS FACTOR; TNF; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 600803 GALLBLADDER DISEASE 1; GBD1; 601265 NODAL, MOUSE, HOMOLOG OF; NODAL; 602438 HEAT-SHOCK TRANSCRIPTION FACTOR 4; HSF4; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1; 603115 DEAD/H BOX 9; DDX9; 606526 MELANOPHILIN; MLPH; 606582 DELTA-LIKE 1; DLL1; 608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1; 611100 PROSTATE CANCER, HEREDITARY, 10; HPC10; 611465 GALLBLADDER DISEASE 4; 611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2; 611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5

September 26, 2007
New Entries:: 611358 RING FINGER PROTEIN 135; RNF135; 611454 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 2; ALSFTD2; 611466 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1;; 611467 GUANYLATE-BINDING PROTEIN 5: GBP5; 611468 BRAIN-DERIVED NEUROTROPHIC FACTOR, OPPOSITE STRAND; BDNFOS; Clinical Synopsis for 604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; Clinical Synopsis for 608257 MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT; Clinical Synopsis for 611426 TENTED EYEBROWS
Changed Entries:: 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1; ALSFTD1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 170280 PERFORIN 1; PRF1; 600411 GUANYLATE-BINDING PROTEIN 1, INTERFERON-INDUCIBLE, 67-KD; GBP1; 600412 GUANYLATE-BINDING PROTEIN 2, INTERFERON-INDUCIBLE; GBP2; 600413 GUANYLATE-BINDING PROTEIN 3; GBP3; 602055 INSULIN-INDUCED GENE 1; INSIG1; 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; 606526 MELANOPHILIN; MLPH; 608257 MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT; 608660 INSULIN-INDUCED GENE 2; INSIG2; 611426 TENTED EYEBROWS; 611454 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 2; ALSFTD2; 611462 CHROMOSOME 17 OPEN READING FRAME 38; C17ORF38; 611466 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1;

September 25, 2007
New Entries:: 611456 TREMOR, HEREDITARY ESSENTIAL, 3; ETM3; 611461 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 17;; 611462 CHROMOSOME 17 OPEN READING FRAME; C17ORF38; 611463 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 2; SAT2; 611464 MON1, S. CEREVISIAE, HOMOLOG OF, A; MON1A
Changed Entries:: 104310 ALZHEIMER DISEASE 2; 107741 APOLIPOPROTEIN E; APOE; 133170 ERYTHROPOIETIN; EPO; 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG; 170280 PERFORIN 1; PRF1; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 188400 DIGEORGE SYNDROME; DGS; 190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI; 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1; 255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE; 255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD; 308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD; 313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1; SAT1; 590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1; 600287 GLYCYL-tRNA SYNTHETASE; GARS; 600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2; 601248 BRIDGING INTEGRATOR 1; BIN1; 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2; 602432 OPTINEURIN; OPTN; 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7; 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2; 605233 DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE; 606201 WFS1 GENE; WFS1; 606210 SELENOPROTEIN N, 1; SEPN1; 606352 ALSIN; 607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP; 609135 APLASTIC ANEMIA; 609176 POLYAMINE-MODULATED FACTOR 1; PMF1; 610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2; NBIA2; 610351 SUPPRESSOR OF MEK1, DICTYOSTELIUM, HOMOLOG OF, 1; SMEK1; 610352 SUPPRESSOR OF MEK1, DICTYOSTELIUM, HOMOLOG OF, 2; SMEK2; 611461 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 17;

September 24, 2007
New Entries:: 300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14; 611431 NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME; NFLS; 611459 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY),; 611460 FAMILY WITH SEQUENCE SIMILARITY 79, MEMBER A; FAM79A
Changed Entries:: 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 118420 CHIARI MALFORMATION TYPE I; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 146661 INTERLEUKIN 7 RECEPTOR; IL7R; 155601 MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 186700 SYRINGOMYELIA, ISOLATED; 232500 GLYCOGEN STORAGE DISEASE IV; 241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND; 256710 ELEJALDE DISEASE; 300298 UPF3, YEAST, HOMOLOG OF, B; UPF3B; 300361 NERVE GROWTH FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; NGFRAP1; 300639 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 2; MRXHF2; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1; 607839 GLYCOGEN BRANCHING ENZYME; GBE1; 609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1; 609308 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K; 611045 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3; 611460 FAMILY WITH SEQUENCE SIMILARITY 79, MEMBER A; FAM79A

September 21, 2007
New Entries:: 611457 FORKHEAD BOX O6
Changed Entries:: 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 117210 SPINOCEREBELLAR ATAXIA, 16q22-LINKED; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 129490 ECTODERMAL DYSPLASIA 3; ED3; 147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA; 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A; 174763 POLYMERASE, DNA, GAMMA; POLG; 191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP; 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; 258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; 300451 ECTODYSPLASIN A; EDA; 300639 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 2; MRXHF2; 305100 ECTODERMAL DYSPLASIA 1; ED1; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 601942 DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2; 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5; 604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC; 606935 RNA-BINDING MOTIF PROTEIN 17; RBM17; 607060 PARKINSON DISEASE 8; PARK8; 608768 SPINOCEREBELLAR ATAXIA 8; SCA8; 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2; 609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;; 611455 KINOCILIN; KNCN; Clinical Synopsis for 300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; Clinical Synopsis for 603516 SPINOCEREBELLAR ATAXIA 10; SCA10

September 20, 2007
New Entries:: 611405 RNA TERMINAL PHOSPHATE CYCLASE-LIKE 1; RCL1; 611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63; 611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3; 611453 DYSBINDIN DOMAIN-CONTAINING 2; DBNDD2; 611455 KINOCILIN; KNCN
Changed Entries:: 109200 ALOPECIA, ANDROGENETIC; 147680 INTERLEUKIN 2; IL2; 147880 INTERLEUKIN 6 RECEPTOR; IL6R; 150330 LAMIN A/C; LMNA; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 157670 MOVED TO 600438; 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2; 178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC; 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1; 192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH; 243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA; 263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP; 265380 PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN; 300188 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE,; 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; 300560 PHD FINGER PROTEIN 8; PHF8; 600438 TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM; 600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2; 600963 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5; 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9; 601556 ATAXIN 1; ATXN1; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 604217 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER; 604379 HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH; 605309 MACROCEPHALY/AUTISM SYNDROME; 606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1; 606733 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 5; OSBPL5; 607903 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH; 608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1; 608588 DEXH BOX POLYPEPTIDE 58; DHX58; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 609708 LIPOPROTEIN LIPASE; LPL; 610339 LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1; LEPRE1; 610441 TESTICULAR MICROLITHIASIS; 610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2; 611123 EPHRIN RECEPTOR EphA10; EPHA10; 611448 BMS1, RIBOSOME ASSEMBLY PROTEIN, S. CEREVISIAE, HOMOLOG OF; BMS1; 611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3; Clinical Synopsis for 607485 FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE

September 19, 2007
New Entries:: 611449 EXPORTIN 4; XPO4; 611450 PXK DOMAIN-CONTAINING SERINE/THREONINE KINASE; PXK
Changed Entries:: 114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1; 126380 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1; 134370 COMPLEMENT FACTOR H; CFH; 150240 LAMININ, BETA-1; LAMB1; 150290 LAMININ, GAMMA-1; LAMC1; 176780 PELVIC ORGAN PROLAPSE; 180435 RIBONUCLEASE L; RNASEL; 240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1; 516002 COMPLEX I, SUBUNIT ND3; MTND3; 600057 EXSTROPHY OF BLADDER; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 603649 CONE-ROD DYSTROPHY 7; CORD7; 606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1; 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM; 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; 610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A; Clinical Synopsis for 270710 FITZSIMMONS-GUILBERT SYNDROME; Clinical Synopsis for 273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES; Clinical Synopsis for 602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL; Clinical Synopsis for 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD; Clinical Synopsis for 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE; Clinical Synopsis for 610536 GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY,

September 18, 2007
New Entries:: 611447 Y BOX-BINDING PROTEIN 2; YBX2; 611448 BMS1, RIBOSOME ASSEMBLY PROTEIN, S. CEREVISIAE, HOMOLOG OF; BMS1
Changed Entries:: 114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1; 133780 EXUDATIVE VITREORETINOPATHY 1; EVR1; 134921 FIBROBLAST GROWTH FACTOR 6; FGF6; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 223100 LACTASE PERSISTENCE; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300017 FILAMIN A; FLNA; 600028 DISTAL-LESS HOMEOBOX 5; DLX5; 600030 DISTAL-LESS HOMEOBOX 6; DLX6; 601897 ZINC FINGER PROTEIN 148; ZNF148; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4; 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK; 608774 ANKYRIN REPEAT AND KINASE DOMAIN CONTAINING 1; ANKK1; 610224 SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN; 610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY; 610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND; 611214 TSR1, 20S rRNA ACCUMULATION, S. CEREVISIAE, HOMOLOG OF; TSR1

September 17, 2007
New Entries:: 300678 DUAL-SPECIFICITY PHOSPHATASE 21; DUSP21; 611441 DOUBLE HOMEOBOX PROTEIN 1; DUX1; 611442 DOUBLE HOMEOBOX PROTEIN 2; DUX2; 611443 DOUBLE HOMEOBOX PROTEIN 3; DUX3; 611444 DOUBLE HOMEOBOX PROTEIN 5; DUX5; 611445 DYNAMIN 3; DNM3; 611446 DUAL-SPECIFICITY PHOSPHATASE 18; DUSP18
Changed Entries:: 103200 ADIPOSIS DOLOROSA; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 109500 BASILAR IMPRESSION, PRIMARY; 114180 CALMODULIN 1; CALM1; 126450 DOPAMINE RECEPTOR D2; DRD2; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 167414 PAIRED BOX GENE 5; PAX5; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 186720 CD6 ANTIGEN; CD6; 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT; 227400 FACTOR V DEFICIENCY; 254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL; 276410 TWINNING, MONOZYGOTIC; 600693 POLYPYRIMIDINE TRACT-BINDING PROTEIN 1; PTBP1; 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM; 601662 ACTIVATED LEUKOCYTE CELL ADHESION MOLECULE; ALCAM; 602377 DYNAMIN 1; DNM1; 602378 DYNAMIN 2; DNM2; 603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 606237 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR-ASSOCIATED PROTEIN 1; TGFBRAP1; 606693 KUFOR-RAKEB SYNDROME; KRS; 608449 POLYPYRIMIDINE TRACT-BINDING PROTEIN 2; PTBP2; 609201 SUPPRESSOR OF T-CELL RECEPTOR SIGNALING 1; 609327 MICRO RNA 124A1; MIRN124A1; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; Clinical Synopsis for 182900 SPHEROCYTOSIS, HEREDITARY; HS; Clinical Synopsis for 609308 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K

September 14, 2007
New Entries:: 300677 CHROMOSOME X OPEN READING FRAME 15; CXORF15; 611432 DEDICATOR OF CYTOKINESIS 8; DOCK8; 611435 DOCKING PROTEIN 3; DOK3; 611436 CARBONIC ANHYDRASE XIII; CA13; 611437 DUAL-SPECIFICITY PHOSPHATASE 19; DUSP19; 611438 TAXILIN, BETA; TXLNB; 611439 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 22; ZBTB22; 611440 WD REPEAT-CONTAINING PROTEIN 46; WDR46
Changed Entries:: 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 161561 INTERLEUKIN 12B; IL12B; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 169400 PELGER-HUET ANOMALY; PHA; 180300 RHEUMATOID ARTHRITIS; RA; 235000 HEMIHYPERPLASIA, ISOLATED; IH; 243400 ISONIAZID INACTIVATION; 246300 LEPROSY, SUSCEPTIBILITY TO; 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS; 502000 AGING; 600274 FRONTOTEMPORAL DEMENTIA; 600980 DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1; DMP1; 601416 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 7; SLC39A7; 601788 MYOSTATIN; MSTN; 602306 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 2; RGL2; 602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1; 603028 TOLL-LIKE RECEPTOR 2; TLR2; 603186 DEATH-ASSOCIATED PROTEIN 6; DAXX; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 604832 CARBONIC ANHYDRASE XIV; CA14; 605667 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 1; RGL1; 606797 SUPPRESSION OF TUMORIGENICITY 14; ST14; 607081 TAP-BINDING PROTEIN-LIKE; TAPBPL; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1; 608676 TAXILIN, ALPHA; TXLNA; 609985 PANIC DISORDER 3; 610618 ANGIOEDEMA, HEREDITARY, TYPE III; HAE III; 610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND; 611231 CLAUDIN 8; CLDN8; 611232 CLAUDIN 12; CLDN12; 611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY; 611439 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 22; ZBTB22

September 13, 2007
New Entries:: 611426 TENTED EYEBROWS; 611427 METHYLENETETRAHYDROFOLATE DEHYDROGENASE, NADP(+)-DEPENDENT 1-LIKE;; 611428 DOWNSTREAM NEIGHBOR OF SON; DONSON; 611429 CHROMOSOME 3 OPEN READING FRAME 35; C3ORF35; 611430 TETRATRICOPEPTIDE REPEAT DOMAIN 21A; TTC21A; 611433 SERINE/THREONINE/TYROSINE KINASE 1; STYK1; 611434 MAST CELL IMMUNORECEPTOR SIGNAL TRANSDUCER; Clinical Synopsis for 611131 RETINITIS PIGMENTOSA 37
Changed Entries:: 114240 CALPAIN 3; CAPN3; 138440 PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE/PHOSPHORIBOSYLGLYCINAMIDE; 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; 176450 CURRARINO SYNDROME; 182465 SON DNA-BINDING PROTEIN; SON; 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE; 186700 SYRINGOMYELIA, ISOLATED; 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 203280 MOVED TO 606952; 230800 GAUCHER DISEASE, TYPE I; 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3; 300078 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1; NDUFA1; 516070 ATP SYNTHASE 8; MTATP8; 601465 DEOXYGUANOSINE KINASE; DGUOK; 601940 SPLICING FACTOR, ARGININE/SERINE-RICH, 4; SFRS4; 602529 TUBULIN, ALPHA-1A; TUBA1A; 603342 SCHIZOPHRENIA 2; SCZD2; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 605031 POLO-LIKE KINASE 4; PLK4; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 606574 OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4; 606867 GOLGI REASSEMBLY STACKING PROTEIN 1; GORASP1; 606933 TYROSINASE; TYR; 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B; 607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; PARL; 609279 CENTROMERIC PROTEIN J; CENPJ; 609321 SAS6, C. ELEGANS, HOMOLOG OF; SASS6; 609544 CENTROSOMAL PROTEIN, 110-KD; 611131 RETINITIS PIGMENTOSA 37; 611409 OCA2 GENE; 611417 SMALL G PROTEIN SIGNALING MODULATOR 1; SGSM1; Clinical Synopsis for 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1

September 12, 2007
New Entries:: 300675 PARANEOPLASTIC ANTIGEN MA3; PNMA3; 611390 ATAXIA, SPASTIC, 3, AUTOSOMAL RECESSIVE; SPAX3; 611409 OCA2 GENE; 611424 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 19; ZMYND19; 611425 CENTROSOMAL BRCA2-INTERACTING PROTEIN; CNTROB; Clinical Synopsis for 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; Clinical Synopsis for 609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS; Clinical Synopsis for 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE; Clinical Synopsis for 609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE; Clinical Synopsis for 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA; Clinical Synopsis for 610536 GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY,
Changed Entries:: 103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS; 113750 HAIR COLOR 1; HCL1; 117360 SPINOCEREBELLAR ATAXIA 29; 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),; 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC; 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH; 143200 WAGNER SYNDROME 1; WGN1; 155555 MELANOCORTIN 1 RECEPTOR; MC1R; 159900 MYOCLONIC DYSTONIA; 160900 DYSTROPHIA MYOTONICA 1; 168600 PARKINSON DISEASE; PD; 176258 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 1;; 176270 PRADER-WILLI SYNDROME; PWS; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 203290 OCULOCUTANEOUS ALBINISM, TYPE III; OCA3; 203310 MOVED TO 203200; 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC; 214450 GRISCELLI SYNDROME, TYPE 1; GS1; 218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN; 218040 COSTELLO SYNDROME; 227220 EYE COLOR 3; EYCL3; 241100 HYPOGONADISM, MALE; 270150 SJOGREN SYNDROME; 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; 278400 RUFOUS OCULOCUTANEOUS ALBINISM; ROCA; 300500 ALBINISM, OCULAR, TYPE I; OA1; 300600 ALAND ISLAND EYE DISEASE; AIED; 600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B; 601800 HAIR COLOR 3; HCL3; 602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7; 602530 TUBULIN, ALPHA-1B; TUBA1B; 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A; 604149 SARCOGLYCAN, EPSILON; SGCE; 604228 MOVED TO 607624; 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2; 606933 TYROSINASE; TYR; 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B; 607257 SRY-BOX 6; SOX6; 607624 GRISCELLI SYNDROME, TYPE 2; GS2; 609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR; 609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS; 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE; 609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE; 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA; 610233 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS; 610536 GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY,; 611099 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6; 611390 ATAXIA, SPASTIC, 3, AUTOSOMAL RECESSIVE; SPAX3; 611424 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 19; ZMYND19; Clinical Synopsis for 149400 HYPEREKPLEXIA, HEREDITARY; Clinical Synopsis for 176270 PRADER-WILLI SYNDROME; PWS; Clinical Synopsis for 607060 PARKINSON DISEASE 8; PARK8; Clinical Synopsis for 609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE; Clinical Synopsis for 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA

September 11, 2007
New Entries:: 611419 CHROMOSOME 6 OPEN READING FRAME 1; C6ORF1; 611420 CDKN1A-INTERACTING ZINC FINGER PROTEIN 1; CIZ1; 611421 SNF2-RELATED CBP ACTIVATOR PROTEIN; 611422 MEIOTIC NUCLEAR DIVISION 1, S. CEREVISIAE. HOMOLOG OF; MND1; 611423 CENTROSOMAL PROTEIN, 135-KD; CEP135; Clinical Synopsis for 602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL; Clinical Synopsis for 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD
Changed Entries:: 108770 ATRIAL STANDSTILL; 118420 CHIARI MALFORMATION TYPE I; 179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51; 186700 SYRINGOMYELIA, ISOLATED; 191110 TUBULIN, ALPHA-4A; TUBA4A; 191170 TUMOR PROTEIN p53; TP53; 246700 CHYLOMICRON RETENTION DISEASE; CMRD; 248800 MARINESCO-SJOGREN SYNDROME; MSS; 263400 ERYTHROCYTOSIS, FAMILIAL, 2; 602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL; 602528 TUBULIN, ALPHA-3C; TUBA3C; 602529 TUBULIN, ALPHA-1A; TUBA1A; 602530 TUBULIN, ALPHA-1B; TUB1B; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603149 INTERLEUKIN 17A; IL17A; 603681 OTOFERLIN; OTOF; 605742 TUBULIN, ALPHA-8; TUBA8; 606933 TYROSINASE; TYR; 607689 ANDERSON DISEASE; 607690 SAR1, S. CEREVISIAE, HOMOLOG B; SAR1B; 607691 SAR1, S. CEREVISIAE, HOMOLOG A; SAR1A; 607692 MOVED TO 248800 AND 246700; 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD; 608005 SIL1, S. CEREVISIAE, HOMOLOG OF; SIL1; 608665 PSMC3-INTERACTING PROTEIN; PSMC3IP; 610882 SJOGREN SYNDROME NUCLEAR AUTOANTIGEN 1; SSNA1; 610968 OSTEOGENESIS IMPERFECTA, TYPE VI; 611346 INTEGRATOR COMPLEX SUBUNIT 2; INTS2; 611422 MEIOTIC NUCLEAR DIVISION 1, S. CEREVISIAE. HOMOLOG OF; MND1; Clinical Synopsis for 207900 ARGININOSUCCINIC ACIDURIA; Clinical Synopsis for 270710 FITZSIMMONS-GUILBERT SYNDROME; Clinical Synopsis for 273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES; Clinical Synopsis for 300257 DANON DISEASE; Clinical Synopsis for 309500 RENPENNING SYNDROME 1; RENS1; Clinical Synopsis for 314570 WIDOW'S PEAK SYNDROME

September 10, 2007
New Entries:: 611413 DISCS LARGE-ASSOCIATED PROTEIN 3; DLGAP3; 611414 CALRETICULIN 3; CALR3; 611415 POLYMERASE (DNA-DIRECTED), DELTA 3, ACCESSORY SUBUNIT; POLD3; 611416 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 3; TOX3; 611417 SMALL G PROTEIN SIGNALING MODULATOR 1; SGSM1; 611418 SMALL G PROTEIN SIGNALING MODULATOR 2; SGSM2
Changed Entries:: 102540 ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1; 108600 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT; SPAX1; 109091 CALRETICULIN; CALR; 113705 BREAST CANCER 1 GENE; BRCA1; 114000 CAFFEY DISEASE; 114480 BREAST CANCER; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; 165040 RAS-ASSOCIATED PROTEIN RAB8A; RAB8A; 174761 POLYMERASE (DNA-DIRECTED), DELTA 1, CATALYTIC SUBUNIT; POLD1; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 218040 COSTELLO SYNDROME; 251850 DIARRHEA 2, WITH MICROVILLOUS ATROPHY; 300104 GDP DISSOCIATION INHIBITOR 1; GDI1; 309541 MENTAL RETARDATION, X-LINKED 3; MRX3; 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600185 BRCA2 GENE; BRCA2; 600815 POLYMERASE (DNA-DIRECTED), DELTA 2, REGULATORY SUBUNIT; POLD2; 603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF; 606863 THYMOCYTE SELECTION-ASSOCIATED HIGH MOBILITY GROUP BOX; TOX; 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2; 609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME; 610440 SMALL G PROTEIN SIGNALING MODULATOR 3; SGSM3; 611302 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE; SPAX2; 611308 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT; 611311 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; 611408 LCA5 GENE; LCA5; 611416 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 3; TOX3; 611417 SMALL G PROTEIN SIGNALING MODULATOR 1; SGSM1; 611418 SMALL G PROTEIN SIGNALING MODULATOR 2; SGSM2; Clinical Synopsis for 129490 ECTODERMAL DYSPLASIA 3, ANHIDROTIC; ED3

September 7, 2007
New Entries:: 611412 N-ACETYLNEURAMINATE PYRUVATE LYASE; NPL
Changed Entries:: 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 164500 SPINOCEREBELLAR ATAXIA 7; SCA7; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 184429 SRY-BOX 2; SOX2; 189973 TRANSCRIPTION FACTOR ELF 1; ELF1; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 191170 TUMOR PROTEIN p53; TP53; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13; 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; 300458 MOVED TO 300055; 600609 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, ALPHA SUBUNIT; GABPA; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11; 602253 KRUPPEL-LIKE FACTOR 4; KLF4; 602623 FK506-BINDING PROTEIN 5; FKBP5; 602769 DNA METHYLTRANSFERASE 3A; DNMT3A; 602900 DNA METHYLTRANSFERASE 3B; DNMT3B; 604439 GRB2-ASSOCIATED BINDING PROTEIN 1; GAB1; 604479 SIRTUIN 1; SIRT1; 606588 DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG; 609093 F-BOX ONLY PROTEIN 15; FBXO15; 611051 COILED-COIL DOMAIN-CONTAINING PROTEIN 50; CCDC50; Clinical Synopsis for 137765 GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME;; Clinical Synopsis for 146300 HYPOPHOSPHATASIA, ADULT TYPE; Clinical Synopsis for 206920 MICROPHTHALMIA WITH LIMB ANOMALIES

September 6, 2007
New Entries:: 300674 MOTILE SPERM DOMAIN-CONTAINING PROTEIN 1; MOSPD1; 611411 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE KINASE 1, ALPHA; CAMKK1
Changed Entries:: 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND; 113705 BREAST CANCER 1 GENE; BRCA1; 119540 CLEFT PALATE, ISOLATED; CPI; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; 136630 MENTAL RETARDATION, FRA12A TYPE; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 177045 PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9; 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 VIRAL ONCOGENE HOMOLOG; KRAS; 218040 COSTELLO SYNDROME; 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE; 265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1; 272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1; 276300 TURCOT SYNDROME; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRSX13; 300103 SHROOM FAMILY MEMBER 2; SHROOM2; 300188 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE,; 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5; 300257 DANON DISEASE; 300500 ALBINISM, OCULAR, TYPE I; OA1; 300674 MOTILE SPERM DOMAIN-CONTAINING PROTEIN 1; MOSPD1; 305450 OPITZ-KAVEGGIA SYNDROME; OKS; 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2; 309520 LUJAN-FRYNS SYNDROME; 312865 SHORT STATURE HOMEOBOX; SHOX; 600185 BRCA2 GENE; BRCA2; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602727 CHLORIDE CHANNEL 7; CLCN7; 604277 SPG4 GENE; SPG4; 604824 KLOTHO; KL; 606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A; 607114 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 33; ADAM33; 607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA; 608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2; 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY; 609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME; 610219 PEJVAKIN; 610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59; 611379 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, B; DIP2B; 611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W; Clinical Synopsis for 232600 GLYCOGEN STORAGE DISEASE V

September 5, 2007
New Entries:: 300672 RETT SYNDROME, ATYPICAL, CDKL5-RELATED; 300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; 611410 CHROMOSOME 6 OPEN READING FRAME 32; C6ORF32
Changed Entries:: 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1; 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 114240 CALPAIN 3; CAPN3; 129490 ECTODERMAL DYSPLASIA 3, ANHIDROTIC; ED3; 143100 HUNTINGTON DISEASE; HD; 207900 ARGININOSUCCINIC ACIDURIA; 224900 ECTODERMAL DYSPLASIA, ANHIDROTIC; 244400 KARTAGENER SYNDROME; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRSX13; 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5; 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRSXL; 300279 MOVED TO 300260; 300458 MENTAL RETARDATION, X-LINKED 16; MRX16; 305670 GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR; 312750 RETT SYNDROME; RTT; 603299 MOVED TO 603339; 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11; 604537 LEBER CONGENITAL AMAUROSIS, TYPE V; LCA5; 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2; 606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD; 608310 ARGININOSUCCINATE LYASE; ASL; 611408 LCA5 GENE; LCA5

September 4, 2007
New Entries:: 611406 DYNEIN, CYTOPLASMIC 1, LIGHT INTERMEDIATE CHAIN 2; DYNC1LI2; 611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W; 611408 LCA5 GENE; LCA5
Changed Entries:: 100820 ACHOO SYNDROME; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 125671 DESMOGLEIN 2; DSG2; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 188380 THYMOPOIETIN; TMPO; 188400 DIGEORGE SYNDROME; DGS; 193065 VINCULIN; VCL; 313700 ANDROGEN RECEPTOR; AR; 601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E; 601439 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9; 601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C; 603340 DYNEIN, AXONEMAL, HEAVY CHAIN 12; DNAH12; 603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D; 603550 EYES ABSENT 4; EYA4; 603921 SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; SUCLA2; 605906 LIM DOMAIN-BINDING 3; LDB3; 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM; 610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10; 611370 FLJ10986; 611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W; 611408 LCA5 GENE; LCA5

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