OMIM Update List for June, 2009

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Nucleotide

Protein

Genome

OMIM Update List for June, 2009

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June 30, 2009
New Entries:: 612888 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8B; LRRC8B; 612889 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8C; LRRC8C; 612890 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8D; LRRC8D; 612891 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8E; LRRC8E
Changed Entries:: 125870 MOVED TO 600941; 125880 DIAPHORASE 3; DIA3; 126380 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 164160 LEPTIN; LEP; 208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS; 224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 250700 METHEMOGLOBIN REDUCTASE DEFICIENCY; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600941 BILIVERDIN REDUCTASE B; BLVRB; 601144 BRUGADA SYNDROME 1; 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1; 602275 GUANYLATE CYCLASE ACTIVATOR 1B; GUCA1B; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603151 SEPTIN 7; SEPT7; 603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604061 SEPTIN 9; SEPT9; 608360 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8A; LRRC8A; 610285 DOWNSTREAM OF TYROSINE KINASE 7; DOK7; 612479 MOVED TO 603075 and 603029; 612877 CARDIOMYOPATHY, DILATED, 1BB; CMD1BB; 612887 SEPTIN 11; SEPT11

June 29, 2009
New Entries:: 300780 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A1; CT47A1; 300781 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A2; CT47A2; 300782 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A3; CT47A3; 300783 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A4; CT47A4; 300784 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A5; CT47A5; 300785 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A6; CT47A6; 300786 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A7; CT47A7; 300787 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A8; CT47A8; 300788 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A9; CT47A9; 300789 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A10; CT47A10; 300790 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER B1; CT47B1; 612878 EXOPHILIN 5; EXPH5; 612880 SYNAPTOTAGMIN-LIKE 2; SYTL2; 612882 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENAQ2; 612883 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 3; MENAQ3; 612884 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENOQ2; 612885 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 3; MENOQ3; 612886 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 4; MENOQ4; 612887 SEPTIN 11; SEPT11
Changed Entries:: 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1; 218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY; 300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1; 300592 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A11; CT47A11; 603295 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 9; SMAD9; 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A; 604697 CHEMOKINE, CC MOTIF, LIGAND 26; CCL26; 606526 MELANOPHILIN; MLPH; 607734 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; 608042 SYNAPTOTAGMIN-LIKE 1; SYTL1; 609235 BR SERINE/THREONINE KINASE 1; BRSK1; 610247 ESOPHAGITIS, EOSINOPHILIC; 610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1; 611044 LIN28, C. ELEGANS, HOMOLOG OF, B; LIN28B; 611790 MYOSIN VIIA- AND RAB-INTERACTING PROTEIN; MYRIP; 612878 EXOPHILIN 5; EXPH5; 612880 SYNAPTOTAGMIN-LIKE 2; SYTL2

June 26, 2009
New Entries:: 612853 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7; 612862 PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN; 612877 CARDIOMYOPATHY, DILATED, 1BB; CMD1BB; 612879 MAM DOMAIN-CONTAINING 2; MAMDC2
Changed Entries:: 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; 109150 MACHADO-JOSEPH DISEASE; MJD; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 125671 DESMOGLEIN 2; DSG2; 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B; 142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1; 600287 GLYCYL-tRNA SYNTHETASE; GARS; 601022 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE; 601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D; 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1; 602902 KRUPPEL-LIKE FACTOR 9; KLF9; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 606273 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3; 609386 STRUCTURAL MAINTENANCE OF CHROMOSOMES 5; SMC5; 609626 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 1; MDGA1; 610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10; 611128 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2; MDGA2; 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; 611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9; 611775 KAWASAKI DISEASE

June 25, 2009
New Entries:: 612795 POLYUNSATURATED FATTY ACIDS PLASMA LEVEL QUANTITATIVE TRAIT LOCUS; 612841 MARIE UNNA HEREDITARY HYPOTRICHOSIS, 2; MUHH2
Changed Entries:: 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE; 132860 EPSTEIN-BARR VIRUS MODIFICATION SITE 1; EBVM1; 134797 FIBRILLIN 1; FBN1; 136670 REMOVED FROM DATABASE; 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;; 143100 HUNTINGTON DISEASE; HD; 146550 MARIE UNNA HEREDITARY HYPOTRICHOSIS, 1; MUHH1; 150330 LAMIN A/C; LMNA; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 159557 AF4/FMR2 FAMILY, MEMBER 1; AFF1; 159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3; MLLT3; 159559 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 4; MLLT4; 160770 MYOSIN, LIGHT CHAIN 4, ALKALI, ATRIAL, EMBRYONIC; MYL4; 160780 MYOSIN, LIGHT POLYPEPTIDE 1, ALKALI, SKELETAL, FAST; MYL1; 160782 MYOSIN, LIGHT CHAIN 5, REGULATORY; MYL5; 160793 MYOSIN-BINDING PROTEIN C, FAST TYPE; MYBPC2; 160795 MYOSIN-BINDING PROTEIN H; MYBPH; 161561 INTERLEUKIN 12B; IL12B; 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2; 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2; 300033 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7; 300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A; 300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F; 300500 ALBINISM, OCULAR, TYPE I; OA1; 300683 SEPTIN 6; SEPT6; 300777 EPSILON-TRIMETHYLLYSINE HYDROXYLASE; TMLHE; 309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE; 600051 EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE 15; EPS15; 600316 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3; 600328 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 6; MLLT6; 601247 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 2; SOS2; 601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS; 601464 AF4/FMR2 FAMILY, MEMBER 3; AFF3; 601479 MYOSIN IE; MYO1E; 602409 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 10; MLLT10; 602489 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED; 602667 NBS1 GENE; NBS1; 603009 DYSFERLIN; DYSF; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 603487 MYOSIN, SKELETAL MUSCLE, HEAVY CHAIN 13; MYH13; 603622 DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17; 603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3; 604002 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 2; ROCK2; 604417 AF4/FMR2 FAMILY, MEMBER 4; AFF4; 604684 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA, TRANSLOCATED TO, 11; MLLT11; 604875 MYOSIN IXA; MYO9A; 605986 SERINE/THREONINE KINASE RECEPTOR-ASSOCIATED PROTEIN; STRAP; 606009 DOUBLE HOMEOBOX PROTEIN 4; DUX4; 606148 FATTY ACID DESATURASE 1; FADS1; 606158 BSCL2 GENE; BSCL2; 606529 CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE; 606671 NCK-INTERACTING PROTEIN WITH SH3 DOMAIN; NCKIPSD; 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;; 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM; 607872 CHROMOSOME 1p36 DELETION SYNDROME; 609020 FOLATE HYDROLASE 1B; FOLH1B; 609135 APLASTIC ANEMIA; 609211 MYOSIN, LIGHT CHAIN 12B, REGULATORY; MYL12B; 609545 OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS; 609930 MYOSIN, LIGHT CHAIN 6B, ALKALI, SMOOTH MUSCLE AND NONMUSCLE, SLOW;; 609935 EARLY B-CELL FACTOR 4; EBF4; 610067 MYOSIN XVIIIA; MYO18A; 612189 PHENAZINE BIOSYNTHESIS-LIKE PROTEIN DOMAIN-CONTAINING PROTEIN; PBLD; 612322 FAST KINASE DOMAIN-CONTAINING PROTEIN 2; FASTKD2; 612582 CHROMOSOME 6pter-p24 DELETION SYNDROME; 612773 BASAL CELL ADHESION MOLECULE; BCAM; 612795 POLYUNSATURATED FATTY ACIDS PLASMA LEVEL QUANTITATIVE TRAIT LOCUS; 612875 GONADOTROPIN-RELEASING HORMONE RECEPTOR 2; GNRHR2

June 24, 2009
New Entries:: 612875 GONADOTROPIN-RELEASING HORMONE RECEPTOR 2; GNRHR2
Changed Entries:: 114500 COLORECTAL CANCER; CRC; 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 168461 CYCLIN D1; CCND1; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 228300 FERTILE EUNUCH SYNDROME; 240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID; 250250 CARTILAGE-HAIR HYPOPLASIA; CHH; 300440 NFKB-REPRESSING FACTOR; NKRF; 600306 PROTEASOME SUBUNIT, BETA-TYPE, 5; PSMB5; 600465 ANKYRIN 3; ANK3; 600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1; 602545 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, KAPPA; PTPRK; 605252 POLYMERASE, DNA, IOTA; POLI; 605758 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; ASB1; 605787 ANKYRIN REPEAT-CONTAINING PROTEIN, FAMILY A, MEMBER 2; ANKRA2; 606463 GLUCOSIDASE, BETA, ACID; GBA; 607704 KN MOTIF AND ANKYRIN REPEAT DOMAINS 1; KANK1; 608004 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 609948 RING FINGER PROTEIN 216; RNF216; 610575 R-SPONDIN FAMILY, MEMBER 2; RSPO2; 612875 GONADOTROPIN-RELEASING HORMONE RECEPTOR 2; GNRHR2

June 23, 2009
New Entries:: 612874 ERYTHROCYTE AMP DEAMINASE DEFICIENCY
Changed Entries:: 102772 ADENOSINE MONOPHOSPHATE DEAMINASE 3; AMPD3; 108728 ATP CITRATE LYASE; ACLY; 113705 BREAST CANCER 1 GENE; BRCA1; 122700 COUMARIN RESISTANCE; 124300 DARWINIAN TUBERCLE OF PINNA; 147700 ISOCITRATE DEHYDROGENASE 1; IDH1; 159540 LEUKEMIA-INHIBITORY FACTOR; LIF; 163890 SYNUCLEIN, ALPHA; SNCA; 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; 168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1; 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; 181510 SCHIZOPHRENIA 1; SCZD1; 184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES; 188400 DIGEORGE SYNDROME; DGS; 190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3; 192132 ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM; 206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY; 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM; 236670 WALKER-WARBURG SYNDROME; WWS; 239500 HYPERPROLINEMIA, TYPE I; HPI; 253280 MUSCLE-EYE-BRAIN DISEASE; MEB; 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO; 260350 PANCREATIC CARCINOMA; 267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS; 276901 USHER SYNDROME, TYPE IIA; USH2A; 300415 MYOTUBULARIN; MTM1; 300662 SMALL NUCLEOLAR RNA, H/ACA BOX, 11; SNORA11; 310400 MYOTUBULAR MYOPATHY 1; MTM1; 600074 CD24 ANTIGEN; CD24; 600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2; 601179 RAS-RELATED NUCLEAR PROTEIN; RAN; 602054 T-BOX 1; TBX1; 602330 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 1; ABLIM1; 602559 EXPORTIN 1; XPO1; 602667 NBS1 GENE; NBS1; 603094 BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B3GALNT1; 603206 SCHIZOPHRENIA 8; SCZD8; 603475 CHORDIN; CHRD; 603830 LONG QT SYNDROME 3; LQT3; 604426 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 2; CYP4F2; 604906 SCHIZOPHRENIA 9; SCZD9; 606091 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 10; SIGLEC10; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 607902 RNA, U TRANSPORTER 1; RNUT1; 607922 ALPHA-1,4-GALACTOSYLTRANSFERASE; A4GALT; 608400 USH2A GENE; USH2A; 608542 ANEURYSM, INTRACRANIAL BERRY, 2; 609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1; 610254 MICRO RNA 133A1; MIRN133A1; 610255 MICRO RNA 133A2; MIRN133A2; 610513 ATPase, TYPE 13A2; ATP13A2; 610939 MICRO RNA 192; MIRN192; 610940 MICRO RNA 194-1; MIRN194-1; 611303 C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A; 611319 FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER A; FAM14A; 611320 FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER B; FAM14B; 611431 NEUROFIBROMATOSIS TYPE 1-LIKE SYNDROME; NFLS; 612874 ERYTHROCYTE AMP DEAMINASE DEFICIENCY

June 22, 2009
New Entries:: 612869 ATTRACTIN-LIKE 1; ATRNL1; 612872 Na+/K+ TRANSPORTING ATPase-INTERACTING 3; NKAIN3; 612873 Na+/K+ TRANSPORTING ATPase-INTERACTING 4; NKAIN4
Changed Entries:: 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1; 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 162640 NEUROPEPTIDE Y; NPY; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 186580 BLAU SYNDROME; 300415 MYOTUBULARIN; MTM1; 300509 DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9; 300757 RP2 GENE; RP2; 310400 MYOTUBULAR MYOPATHY 1; MTM1; 600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2; 600810 PHOSPHOLIPASE C, BETA-4; PLCB4; 601273 CLATHRIN, HEAVY POLYPEPTIDE-LIKE 1; CLTCL1; 601693 UNCOUPLING PROTEIN 2; UCP2; 602054 T-BOX 1; TBX1; 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603850 DYNAMIN 1-LIKE; DNM1L; 604254 DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3; 604784 TRANSCRIPTION ELONGATION FACTOR A, 2; TCEA2; 605353 GHRELIN; GHRL; 605386 MICRO RNA LET7A1; MIRNLET7A1; 605755 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 2; DCDC2; 605798 NEURAL PROLIFERATION, DIFFERENTIATION, AND CONTROL PROTEIN 1; NPDC1; 605939 PHOSPHOLIPASE C, DELTA-4; PLCD4; 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2; 606616 DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6; 606896 DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5; 608537 VHL GENE; VHL; 608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8; 609269 KIAA0319 GENE; 612496 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 19; ARHGEF19; 612861 NOP16, S. CEREVISIAE, HOMOLOG OF; NOP16; 612869 ATTRACTIN-LIKE 1; ATRNL1; 612871 Na+/K+ TRANSPORTING ATPase-INTERACTING 1; NKAIN1; 612872 Na+/K+ TRANSPORTING ATPase-INTERACTING 3; NKAIN3; 612873 Na+/K+ TRANSPORTING ATPase-INTERACTING 4; NKAIN4

June 19, 2009
New Entries:: 300776 ALG13, S. CEREVISIAE, HOMOLOG OF; ALG13; 300777 EPSILON-TRIMETHYLLYSINE HYDROXYLASE; TMLHE; 300778 CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD; 300779 CORNEAL DYSTROPHY, ENDOTHELIAL, X-LINKED; XECD; 612866 ALG14, S. CEREVISIAE, HOMOLOG OF; ALG14; 612870 PLECKSTRIN HOMOLOGY DOMAIN-INTERACTING PROTEIN; PHIP; 612871 Na+/K+ TRANSPORTING ATPase-INTERACTING 1; NKAIN1
Changed Entries:: 105120 AMYLOIDOSIS, FINNISH TYPE; 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD; 121850 CORNEAL DYSTROPHY, FLECK; 121900 GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1; 122100 CORNEAL DYSTROPHY, MEESMANN; MECD; 122200 CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1; 176410 PRECOCIOUS PUBERTY, MALE-LIMITED; 300776 ALG13, S. CEREVISIAE, HOMOLOG OF; ALG13; 300778 CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD; 602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1; 605003 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 6; SENP6; 605284 TSC1 GENE; TSC1; 607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA; 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML; 609414 PHOSPHATIDYLINOSITOL-3-PHOSPHATE 5-KINASE, TYPE III; PIP5K3; 609758 Na+/K+ TRANSPORTING ATPase-INTERACTING 2; NKAIN2; 612740 PORPHYRIA, ACUTE HEPATIC; 612866 ALG14, S. CEREVISIAE, HOMOLOG OF; ALG14

June 18, 2009
New Entries:: 612864 PHOSPHOLIPASE A2, GROUP IVD; PLA2G4D; 612865 PHOSPHATIDYLINOSITOL-4-PHOSPHATE-5-KINASE-LIKE 1; PIP5KL1; 612867 CORNEAL DYSTROPHY, SUBEPITHELIAL MUCINOUS; SMCD; 612868 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS; PACD
Changed Entries:: 114000 CAFFEY DISEASE; 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1; 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY; ERED; 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS; 139320 GNAS COMPLEX LOCUS; GNAS; 146550 MARIE UNNA HEREDITARY HYPOTRICHOSIS, 1; MUHH1; 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; POH; 204000 LEBER CONGENITAL AMAUROSIS 1; LCA1; 205950 ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE; 209900 BARDET-BIEDL SYNDROME; BBS; 213300 JOUBERT SYNDROME; JBTS; 217600 CENTRAL CLOUDY DYSTROPHY OF FRANCOIS; CCDF; 256700 NEUROBLASTOMA; 266900 SENIOR-LOKEN SYNDROME 1; SLSN1; 272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION; 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1; 605225 INFLAMMATORY BOWEL DISEASE 7; IBD7; 607144 ALG12, S. CEREVISIAE, HOMOLOG OF; ALG12; 610031 POLYMICROGYRIA, ASYMMETRIC; 610819 SOLUTE CARRIER FAMILY 25, MEMBER 38; SLC25A38; 610937 RPGRIP1-LIKE; RPGRIP1L; 612639 INFLAMMATORY BOWEL DISEASE 26; IBD26; 612850 TUBULIN, BETA-2B; TUBB2B; 612867 CORNEAL DYSTROPHY, SUBEPITHELIAL MUCINOUS; SMCD

June 17, 2009
New Entries:: 612851 NARCOLEPSY 5; NRCLP5; 612860 QUIESCIN Q6 SULFHYDRYL OXIDASE 2; QSOX2; 612861 NOP16, S. CEREVISIAE, HOMOLOG OF; NOP16
Changed Entries:: 118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1; 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 138254 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2C;; 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1; 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5; 142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2; 147796 JANUS KINASE 2; JAK2; 155255 MEDULLOBLASTOMA; MDB; 161400 NARCOLEPSY 1; NRCLP1; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1; 181270 SCALP-EAR-NIPPLE SYNDROME; 186880 T-CELL ANTIGEN RECEPTOR, ALPHA SUBUNIT; TCRA; 188470 THYROID CARCINOMA, FOLLICULAR; FTC; 188550 THYROID CARCINOMA, PAPILLARY; 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3; 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY; 305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3; 600141 HEAT-SHOCK 10-KD PROTEIN; HSPE1; 600576 GATA-BINDING PROTEIN 4; GATA4; 600635 NK2 HOMEOBOX 1; NKX2-1; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE; 601620 T-BOX 5; TBX5; 601737 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2; 602142 PHOSPHOLIPASE C, DELTA-1; PLCD1; 602617 FORKHEAD BOX E1; FOXE1; 602717 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2D;; 603120 QUIESCIN Q6 SULFHYDRYL OXIDASE 1; QSOX1; 603903 SICKLE CELL ANEMIA; 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL; 606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4; 607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11; 608371 OROFACIAL CLEFT 4; 609102 F-BOX ONLY PROTEIN 31; FBXO31; 611526 NOP14, S. CEREVISIAE, HOMOLOG OF; NOP14; 611531 ESSENTIAL FOR MITOTIC GROWTH 1, S. CEREVISIAE, HOMOLOG OF; EMG1; 612848 SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 1; SDHAF1; 612851 NARCOLEPSY 5; NRCLP5

June 16, 2009
New Entries:: 300775 E74-LIKE FACTOR 4; ELF4; 612854 SEC16, S. CEREVISIAE, HOMOLOG OF, A; SEC16A; 612855 SEC16, S. CEREVISIAE, HOMOLOG OF, B; SEC16B; 612857 PLACENTA-SPECIFIC GENE 9; PLAC9; 612858 OROFACIAL CLEFT 12; OFC12; 612859 T-CELL IMMUNORECEPTOR WITH IMMUNOGLOBULIN AND ITIM DOMAINS; TIGIT
Changed Entries:: 119530 OROFACIAL CLEFT 1; OFC1; 119540 CLEFT PALATE, ISOLATED; CPI; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 176640 PRION PROTEIN; PRNP; 176930 COAGULATION FACTOR II; F2; 181500 SCHIZOPHRENIA; SCZD; 184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES; 189973 E74-LIKE FACTOR 1; ELF1; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO; 268000 RETINITIS PIGMENTOSA; RP; 300766 NFKB-ACTIVATING PROTEIN; NKAP; 600850 SCHIZOPHRENIA 4; SCZD4; 601665 OBESITY; 602572 ANNEXIN A11; ANXA11; 602966 OROFACIAL CLEFT 2; OFC2; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 605101 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN; 605246 COMPLEMENT COMPONENT 3a RECEPTOR 1; C3AR1; 605577 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 2; RASGRP2; 606083 POLYBROMO 1, CHICKEN, HOMOLOG OF; PBRM1; 606589 SORTING NEXIN 13; SNX13; 607515 PLACENTA-SPECIFIC GENE 8; PLAC8; 608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6; 608874 OROFACIAL CLEFT 5; OFC5; 609648 NLR FAMILY, PYRIN DOMAIN-CONTAINING 12; NLRP12; 609663 NLR FAMILY, PYRIN DOMAIN-CONTAINING 9; NLRP9; 609664 NLR FAMILY, PYRIN DOMAIN-CONTAINING 11; NLRP11; 609665 NLR FAMILY, PYRIN DOMAIN-CONTAINING 14; NLRP14; 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2; 612388 SARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3; 612711 GRIP AND COILED-COIL DOMAIN-CONTAINING PROTEIN 2; GCC2; 612820 NEUROPLASTIN; NPTN; 612835 PHOSPHOLIPASE C, ETA-1; PLCH1; 612836 PHOSPHOLIPASE C, ETA-2; PLCH2; 612857 PLACENTA-SPECIFIC GENE 9; PLAC9; 612858 OROFACIAL CLEFT 12; OFC12; Clinical Synopsis for 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

June 15, 2009
New Entries:: 300766 NFKB-ACTIVATING PROTEIN; NKAP; 612835 PHOSPHOLIPASE C, ETA-1; PLCH1; 612836 PHOSPHOLIPASE C, ETA-2; PLCH2; 612852 INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY; 612856 ASTROTACTIN 2; ASTN2
Changed Entries:: 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1; 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR; 129490 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB; 184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY; 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO; 300642 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2; 300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;; 600302 FRYNS MACROCEPHALY; 600904 ASTROTACTIN 1; ASTN1; 601941 DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6; 603005 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2; 603273 TUMOR PROTEIN p63; TP63; 603543 LIMB-MAMMARY SYNDROME; LMS; 603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF; 606981 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-2; GNG2; 607115 CINCA SYNDROME; CINCA; 608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV; 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1; 609832 SOLUTE CARRIER FAMILY 47, MEMBER 1; SLC47A1; 609833 SOLUTE CARRIER FAMILY 47, MEMBER 2; SLC47A2; 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14

June 12, 2009
Changed Entries:: 107830 ARGINASE II; ARG2; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 137800 GLIOMA OF BRAIN, FAMILIAL; 154800 MAST CELL DISEASE; 161400 NARCOLEPSY 1; NRCLP1; 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB; 176265 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 4;; 182170 ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT; 187950 THROMBOCYTHEMIA, ESSENTIAL; 211980 LUNG CANCER; 219700 CYSTIC FIBROSIS; CF; 235200 HEMOCHROMATOSIS; HFE; 254450 MYELOFIBROSIS; 257200 NIEMANN-PICK DISEASE, TYPE A; 263300 POLYCYTHEMIA VERA; 269500 SCLEROSTEOSIS; SOST; 270685 SPASTIC PARAPLEGIA 17; SPG17; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 600618 ETS VARIANT GENE 6; ETV6; 601626 LEUKEMIA, ACUTE MYELOID; AML; 602572 ANNEXIN A11; ANXA11; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1; 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1; 610298 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 2; PHLDB2; 612479 GEOGRAPHIC ATROPHY, SUSCEPTIBILITY TO PROGRESSION TO, IN AGE-RELATED; 612839 TET ONCOGENE FAMILY, MEMBER 2; TET2

June 11, 2009
New Entries:: 612844 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 3; SENP3; 612845 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 5; SENP5; 612846 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 7; SENP7; 612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE; 612848 SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 1; SDHAF1; 612849 UBIQUITIN-SPECIFIC PEPTIDASE 46; USP46; 612850 TUBULIN, BETA-2B; TUBB2B; Clinical Synopsis for 612740 PORPHYRIA, ACUTE HEPATIC
Changed Entries:: 113500 BRACHYOLMIA TYPE 3; 125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD; 137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A; 151550 REMOVED FROM DATABASE; 176010 MOVED TO 176000; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 190010 TRANSFERRIN RECEPTOR; TFRC; 257850 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE; 300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD; 600850 SCHIZOPHRENIA 4; SCZD4; 601179 RAS-RELATED NUCLEAR PROTEIN; RAN; 602478 tRNA ASPARTIC ACID METHYLTRANSFERASE 1; TRDMT1; 602520 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 5; MAP2K5; 602660 TUBULIN, BETA-2C; TUBB2C; 603005 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2; 603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1; 603444 FAR UPSTREAM ELEMENT-BINDING PROTEIN 1; FUBP1; 603616 RAB GTPase-BINDING EFFECTOR PROTEIN 1; RABEP1; 604443 ACYL-CoA SYNTHETASE LONG-CHAIN FAMILY MEMBER 6; ACSL6; 605003 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 6; SENP6; 606091 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 10; SIGLEC10; 606148 FATTY ACID DESATURASE 1; FADS1; 606149 FATTY ACID DESATURASE 2; FADS2; 606150 FATTY ACID DESATURASE 3; FADS3; 606232 CHROMOSOME 22q13.3 DELETION SYNDROME; 606475 8D6 ANTIGEN; 607414 FEZ FAMILY ZINC FINGER 2; FEZF2; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607630 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, B; 608363 CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME; 608537 VHL GENE; VHL; 608637 SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED; 608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA;; 609198 ADAMTS-LIKE PROTEIN 1; ADAMTSL1; 609199 ADAMTS-LIKE PROTEIN 3; ADAMTSL3; 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; 611191 MICRO RNA 125A; MIRN125A; 611225 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; 611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32; 611273 LBX1 COREPRESSOR 1, MOUSE, HOMOLOG OF; LBXCOR1; 611486 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1; SYCE1; 611487 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 2; SYCE2; 611501 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1; CAMTA1; 612261 INFLAMMATORY BOWEL DISEASE 17; IBD17; 612335 SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38; 612775 CONE-ROD DYSTROPHY 9; CORD9; 612794 ATRIAL SEPTAL DEFECT 5; ASD5; 612796 INFLAMMATORY BOWEL DISEASE 27; IBD27; 612797 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 612799 GLUTAMYL-tRNA SYNTHETASE 2; EARS2; 612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3; 612842 RASD FAMILY, MEMBER 2; RASD2; 612848 SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 1; SDHAF1; 612850 TUBULIN, BETA-2B; TUBB2B; Clinical Synopsis for 125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD; Clinical Synopsis for 151550 REMOVED FROM DATABASE; Clinical Synopsis for 176010 MOVED TO 176000

June 10, 2009
New Entries:: Clinical Synopsis for 612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT
Changed Entries:: 103280 H19 GENE; H19; 104300 ALZHEIMER DISEASE; AD; 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 113710 TREFOIL FACTOR 1; TFF1; 115310 PARAGANGLIOMAS 4; PGL4; 126451 DOPAMINE RECEPTOR D3; DRD3; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 150325 LAMININ, BETA-2; LAMB2; 174763 POLYMERASE, DNA, GAMMA; POLG; 180860 SILVER-RUSSELL SYNDROME; SRS; 180901 RYANODINE RECEPTOR 1; RYR1; 181500 SCHIZOPHRENIA; SCZD; 186945 FK506-BINDING PROTEIN 1A; FKBP1A; 192430 VELOCARDIOFACIAL SYNDROME; 256700 NEUROBLASTOMA; 300377 DYSTROPHIN; DMD; 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; 600850 SCHIZOPHRENIA 4; SCZD4; 601477 RIBBING DISEASE; 608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME; 609049 PIERSON SYNDROME; 611171 KIAA1598 GENE; KIAA1598; 611913 AUTISM, SUSCEPTIBILITY TO, 14; AUTS14; 612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME; 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB; 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME; 612796 INFLAMMATORY BOWEL DISEASE 27; IBD27; Clinical Synopsis for 600302 FRYNS MACROCEPHALY

June 10, 2009
New Entries:: 611225 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; 612842 RASD FAMILY, MEMBER 2; RASD2; Clinical Synopsis for 300458 MOVED TO 300055
Changed Entries:: 120361 MATRIX METALLOPROTEINASE 9; MMP9; 120520 MEMBRANE METALLOENDOPEPTIDASE; MME; 122500 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 6; SERPINA6; 159300 MUSICAL PERFECT PITCH; 161561 INTERLEUKIN 12B; IL12B; 165500 OPTIC ATROPHY 1; OPA1; 171760 ALKALINE PHOSPHATASE, LIVER; ALPL; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE; 232600 GLYCOGEN STORAGE DISEASE V; 241500 HYPOPHOSPHATASIA, INFANTILE; 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE; 246530 LEUKOTRIENE C4 SYNTHASE; LTC4S; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 300458 MOVED TO 300055; 300712 CRANIOFACIOSKELETAL SYNDROME; 535000 LEBER OPTIC ATROPHY; 600946 GROWTH HORMONE RECEPTOR; GHR; 601626 LEUKEMIA, ACUTE MYELOID; AML; 605580 INTERLEUKIN 23-ALPHA; IL23A; 605600 IMPORTIN 8; IPO8; 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; 608089 ENDOMETRIAL CANCER; 608455 GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM; 608584 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2; 608595 NEUROPEPTIDE S RECEPTOR 1; NPSR1; 609513 NEUROPEPTIDE S; 610878 VESICOURETERAL REFLUX 2; VUR2; 611225 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; Clinical Synopsis for 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1; Clinical Synopsis for 147430 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT; Clinical Synopsis for 153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS; Clinical Synopsis for 261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE; Clinical Synopsis for 277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE; Clinical Synopsis for 300279 MOVED TO 300260; Clinical Synopsis for 300431 ATKIN-FLAITZ SYNDROME

June 8, 2009
New Entries:: Clinical Synopsis for 610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2; Clinical Synopsis for 610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3
Changed Entries:: 103275 ADRENOMEDULLIN; ADM; 124092 INTERLEUKIN 10; IL10; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 600243 DEFENDER AGAINST CELL DEATH 1; DAD1; 602574 TECTORIN, ALPHA; TECTA; 603174 HOMOCYSTEINEMIA; 605378 AAAS GENE; AAAS; 608760 AUTOPHAGY 7, S. CEREVISIAE, HOMOLOG OF; ATG7; 612380 INFLAMMATORY BOWEL DISEASE 22; IBD22; 612381 INFLAMMATORY BOWEL DISEASE 23; IBD23; 612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3; Clinical Synopsis for 265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1

June 5, 2009
New Entries:: 612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3; Clinical Synopsis for 300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD; Clinical Synopsis for 610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10; Clinical Synopsis for 610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11; Clinical Synopsis for 610852 CILIARY DYSKINESIA, PRIMARY, 6; CILD6; Clinical Synopsis for 610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED; Clinical Synopsis for 611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32; Clinical Synopsis for 611263 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2; Clinical Synopsis for 611284 DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD; Clinical Synopsis for 611302 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE; SPAX2; Clinical Synopsis for 611364 MYOCLONIC EPILEPSY, JUVENILE, 4; EJM4
Changed Entries:: 105830 ANGELMAN SYNDROME; AS; 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN; 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD; 139250 GROWTH HORMONE 1; GH1; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 164951 NOTCH, DROSOPHILA, HOMOLOG OF, 4; NOTCH4; 173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2; 176807 PROSTATE CANCER; 181500 SCHIZOPHRENIA; SCZD; 183086 SPINOCEREBELLAR ATAXIA 6; SCA6; 300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD; 300746 COAGULATION FACTOR IX; F9; 301500 FABRY DISEASE; 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED; 306900 HEMOPHILIA B; HEMB; 308250 IMMUNOGLOBULIN M, LEVEL OF; 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; 313700 ANDROGEN RECEPTOR; AR; 516003 COMPLEX I, SUBUNIT ND4; MTND4; 600565 NEUREXIN 1; NRXN1; 600568 NEUROLIGIN 1; NLGN1; 600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2; 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A; 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A; 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX; 602088 NEPHRONOPHTHISIS 2; NPHP2; 604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E; 605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8; 607901 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 3; FERMT3; 608958 ADENOSINE DEAMINASE; ADA; 609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8; 609242 KANZAKI DISEASE; 610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY; 612025 IODOTYROSINE DEIODINASE; IYD; 612781 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B; Clinical Synopsis for 147750 IVIC SYNDROME; Clinical Synopsis for 150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1; Clinical Synopsis for 161400 NARCOLEPSY 1; NRCLP1; Clinical Synopsis for 175780 PORENCEPHALY, FAMILIAL; Clinical Synopsis for 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; Clinical Synopsis for 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; Clinical Synopsis for 254900 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF; Clinical Synopsis for 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; Clinical Synopsis for 263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP; Clinical Synopsis for 263800 GITELMAN SYNDROME; Clinical Synopsis for 265050 CARNEVALE SYNDROME; Clinical Synopsis for 267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS; Clinical Synopsis for 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; Clinical Synopsis for 301500 FABRY DISEASE; Clinical Synopsis for 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD; Clinical Synopsis for 311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5; Clinical Synopsis for 606658 SPINOCEREBELLAR ATAXIA 15; SCA15

June 4, 2009
New Entries:: 612773 BASAL CELL ADHESION MOLECULE; BCAM; 612839 TET ONCOGENE FAMILY, MEMBER 2; TET2
Changed Entries:: 111150 BLOOD GROUP--LUTHERAN INHIBITOR; INLU; 111200 BLOOD GROUP--LUTHERAN SYSTEM; LU; 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7; 120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1; 126452 DOPAMINE RECEPTOR D4; DRD4; 131530 EPIDERMAL GROWTH FACTOR; EGF; 133500 EXCHONDROSIS OF PINNA, POSTERIOR; 139320 GNAS COMPLEX LOCUS; GNAS; 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1; 142200 HEMOGLOBIN, GAMMA A; HBG1; 142250 HEMOGLOBIN, GAMMA G; HBG2; 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5; 142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 146110 HYPOGONADOTROPIC HYPOGONADISM; 162332 TACHYKININ RECEPTOR 3; TACR3; 163700 NIPPLES, SUPERNUMERARY; 163890 SYNUCLEIN, ALPHA; SNCA; 165040 RAS-ASSOCIATED PROTEIN RAB8A; RAB8A; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 213980 CEREBROFACIOTHORACIC DYSPLASIA; 225100 ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE; 229200 BRITTLE CORNEA SYNDROME; BCS; 247420 LUTHERAN NULL; 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES; 300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK; 300422 FG SYNDROME 4; FGS4; 305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3; 309050 LUTHERAN SUPPRESSOR, X-LINKED; XS; 600118 WARBURG MICRO SYNDROME; WARBM; 600140 CREB-BINDING PROTEIN; CREBBP; 600187 EUKARYOTIC TRANSLATION INITIATION FACTOR 5A; EIF5A; 600299 PERICENTRIOLAR MATERIAL 1; PCM1; 600599 KRUPPEL-LIKE FACTOR 1; KLF1; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 600807 ASTHMA, SUSCEPTIBILITY TO; 601128 H3 HISTONE, FAMILY 3A; H3F3A; 601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11; 602361 GRACILE BONE DYSPLASIA; 602536 RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1; 602700 E1A-BINDING PROTEIN, 300-KD; EP300; 603616 RAB GTPase-BINDING EFFECTOR PROTEIN 1; RABEP1; 604167 CCCTC-BINDING FACTOR; CTCF; 604479 SIRTUIN 1; SIRT1; 604480 SIRTUIN 2; SIRT2; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 605546 GLYCOPROTEIN VI, PLATELET; GP6; 605557 PR DOMAIN-CONTAINING PROTEIN 16; PRDM16; 606557 B-CELL CLL/LYMPHOMA 11A; BCL11A; 606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4; 607380 TRAF3-INTERACTING PROTEIN 1; TRAF3IP1; 607790 TET ONCOGENE FAMILY, MEMBER 1; TET1; 607805 CYCLIN M4; CNNM4; 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1; 609189 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, A; ASF1A; 610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7; SLEB7; 610113 ADAMTS-LIKE 4; ADAMTSL4; 610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5; CCT5; 611718 HYPOMAGNESEMIA 4, RENAL; HOMG4; 612259 INFLAMMATORY BOWEL DISEASE 16; IBD16; 612450 HBS1-LIKE PROTEIN; HBS1L; Clinical Synopsis for 208050 ARTERIAL TORTUOSITY SYNDROME; ATS

June 3, 2009
New Entries:: 300774 RAS-ASSOCIATED PROTEIN RAB39B; RAB39B; 612789 DEAFNESS, AUTOSOMAL RECESSIVE 71; DFNB71
Changed Entries:: 100070 AORTIC ANEURYSM, ABDOMINAL; 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND; 100820 ACHOO SYNDROME; 101000 NEUROFIBROMATOSIS, TYPE II; NF2; 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,; 103200 ADIPOSIS DOLOROSA; 103400 AINHUM; 103600 ALBUMIN; ALB; 103780 ALCOHOL DEPENDENCE; 104311 PRESENILIN 1; PSEN1; 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1; ALSFTD1; 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 107300 ANTITHROMBIN III DEFICIENCY; 107400 PROTEASE INHIBITOR 1; PI; 107650 APNEA, OBSTRUCTIVE SLEEP; 107680 APOLIPOPROTEIN A-I; APOA1; 107730 APOLIPOPROTEIN B; APOB; 107741 APOLIPOPROTEIN E; APOE; 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1; 108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1; 108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 109350 GASTROESOPHAGEAL REFLUX; 109800 BLADDER CANCER; 111250 LANDSTEINER-WIENER BLOOD GROUP; LW; 111680 RHESUS BLOOD GROUP, D ANTIGEN; RHD; 112200 BLUE RUBBER BLEB NEVUS; 112270 BONE PAIN, PERIODIC; 113705 BREAST CANCER 1 GENE; BRCA1; 114000 CAFFEY DISEASE; 114200 CAMPTODACTYLY; 114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE; 115080 CARDIAC CONDUCTION DEFECT; 118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT; 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B; 118600 CHONDROCALCINOSIS 2; CCAL2; 118700 CHOREA, BENIGN HEREDITARY; BHC; 118900 CIRRHOSIS, FAMILIAL; 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1; 120435 LYNCH SYNDROME I; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 123290 CREATINE KINASE, MITOCHONDRIAL 1B; CKMT1B; 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 124300 DARWINIAN TUBERCLE OF PINNA; 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL; 126450 DOPAMINE RECEPTOR D2; DRD2; 128800 EAR WITHOUT HELIX; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 131240 ENDOTHELIN 1; EDN1; 133430 ESTROGEN RECEPTOR 1; ESR1; 134570 FACTOR XIII, A1 SUBUNIT; F13A1; 134797 FIBRILLIN 1; FBN1; 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES; 136200 FLUSHING OF EARS AND SOMNOLENCE; 136430 FOLATE RECEPTOR 1, ADULT; FOLR1; 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1; 137215 GASTRIC CANCER; 137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A; 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA; 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142340 DIAPHRAGMATIC HERNIA, CONGENITAL; 142690 ACNE INVERSA, FAMILIAL; 142900 HOLT-ORAM SYNDROME; HOS; 143055 CYCLIN T1; CCNT1; 143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 144100 HYPERHIDROSIS, GUSTATORY; 144700 RENAL CELL CARCINOMA 1; RCC1; 145000 HYPERPARATHYROIDISM 1; HRPT1; 145500 HYPERTENSION, ESSENTIAL; 145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1; 145700 HYPERTRICHOSIS UNIVERSALIS; 147100 IgG HEAVY CHAIN LOCUS; IGHG1; 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 151550 REMOVED FROM DATABASE; 151623 LI-FRAUMENI SYNDROME 1; LFS1; 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE; 153100 LYMPHEDEMA, HEREDITARY, IA; 154700 MARFAN SYNDROME; MFS; 155541 MELANOCORTIN 4 RECEPTOR; MC4R; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 156240 MESOTHELIOMA, MALIGNANT; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 158320 MUIR-TORRE SYNDROME; MTS; 158350 COWDEN DISEASE; CD; 160900 DYSTROPHIA MYOTONICA 1; 161050 TWENTY-NAIL DYSTROPHY; 161200 NAIL-PATELLA SYNDROME; NPS; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; 162800 CYCLIC HEMATOPOIESIS; 163700 NIPPLES, SUPERNUMERARY; 163905 HIGH MOBILITY GROUP BOX 1; HMGB1; 163950 NOONAN SYNDROME 1; NS1; 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 165670 OSSIFIED EAR CARTILAGES; 165800 OSTEOCHONDRITIS DISSECANS; OD; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 166760 OTITIS MEDIA, SUSCEPTIBILITY TO; 167000 OVARIAN CANCER; 167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2; 171300 PHEOCHROMOCYTOMA; 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A; 171720 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; 172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A; 172800 PIEBALD TRAIT; PBT; 173000 PILONIDAL SINUS; 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS; 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1; 174770 ACTINIC PRURIGO; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 175200 PEUTZ-JEGHERS SYNDROME; PJS; 176000 PORPHYRIA, ACUTE INTERMITTENT; 176010 MOVED TO 176000; 176100 PORPHYRIA CUTANEA TARDA; 176270 PRADER-WILLI SYNDROME; PWS; 176400 PRECOCIOUS PUBERTY, CENTRAL; 176640 PRION PROTEIN; PRNP; 176700 PROGNATHISM, MANDIBULAR; 176911 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, BETA; PRKAR1B; 176920 PROTEUS SYNDROME; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 177800 PSEUDOPAPILLEDEMA; 178000 PTERYGIUM OF CONJUNCTIVA AND CORNEA; 179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2; 179613 RECOMBINANT CHROMOSOME 8 SYNDROME; 180721 ROD OUTER SEGMENT PROTEIN 1; ROM1; 184500 STEATOCYSTOMA MULTIPLEX; 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH; 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 187400 TESTICULAR TORSION; 188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; 188455 THYROGLOSSAL DUCT CYST, FAMILIAL; 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS; 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1; 190685 DOWN SYNDROME; 190700 ZINC FINGER PROTEIN 36, MOUSE, HOMOLOG OF; ZFP36; 191044 TROPONIN I, CARDIAC; TNNI3; 191100 TUBEROUS SCLEROSIS; TS; 191160 TUMOR NECROSIS FACTOR; TNF; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 191800 URINARY BLADDER, ATONY OF; 191850 URTICARIA, AQUAGENIC; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 193400 VON WILLEBRAND DISEASE; 193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A; 194070 WILMS TUMOR 1; WT1; 200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY; 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ; 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A; 205400 TANGIER DISEASE; TGD; 208200 ARTHROGRYPOSIS-LIKE DISORDER; 208900 ATAXIA-TELANGIECTASIA; AT; 209800 AUSTRALIA ANTIGEN; 211400 BRONCHIECTASIS; 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC; 215450 CHOREA, BENIGN FAMILIAL; 218040 COSTELLO SYNDROME; 219750 CYSTINOSIS, ADULT NONNEPHROPATHIC; 220100 CYSTINURIA; 221700 DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS; 221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE; 223100 LACTASE PERSISTENCE; 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3; 225310 EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN; 227400 FACTOR V DEFICIENCY; 227600 FACTOR X DEFICIENCY; 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC; 229300 FRIEDREICH ATAXIA 1; FRDA; 230300 GALACTORRHEA; 230800 GAUCHER DISEASE, TYPE I; 232200 GLYCOGEN STORAGE DISEASE I; 233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; 236200 HOMOCYSTINURIA; 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID; 242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS; 243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME; 244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1; 246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT; 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 249100 FAMILIAL MEDITERRANEAN FEVER; FMF; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 251900 MITOCHONDRIAL MYOPATHY; 254200 MYASTHENIA GRAVIS; MG; 254210 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA; 254500 MYELOMA, MULTIPLE; 259250 OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE; 259750 OSTEOPOROSIS, JUVENILE; 259900 HYPEROXALURIA, PRIMARY, TYPE I; 261600 PHENYLKETONURIA; PKU; 265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL; 265800 PYCNODYSOSTOSIS; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 268240 RHEUMATIC FEVER-RELATED ANTIGEN; 268400 ROTHMUND-THOMSON SYNDROME; RTS; 269000 SC PHOCOMELIA SYNDROME; 269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2; 269600 SEA-BLUE HISTIOCYTE DISEASE; 271500 SPLENOPORTAL VASCULAR ANOMALIES; 272550 TACHYCARDIA, HYPERTENSION, MICROPHTHALMIA, AND HYPERGLYCINURIA; 273300 TESTICULAR TUMORS; 273900 THROMBOCYTOPENIA 3; THC3; 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP; 274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4; 275000 GRAVES DISEASE; 275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4; 276000 PROTEASE, SERINE, 1; PRSS1; 277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD; 277900 WILSON DISEASE; 278800 DE SANCTIS-CACCHIONE SYNDROME; 300322 LESCH-NYHAN SYNDROME; LNS; 300500 ALBINISM, OCULAR, TYPE I; OA1; 300624 FRAGILE X MENTAL RETARDATION SYNDROME; 300746 COAGULATION FACTOR IX; F9; 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; 305100 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED; 305400 FACIOGENITAL DYSPLASIA; 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; 308100 ICHTHYOSIS, X-LINKED; XLI; 309200 MAJOR AFFECTIVE DISORDER 2; MAFD2; 313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT; 515000 CHLORAMPHENICOL TOXICITY; 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO; 600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DISEASE OF; 600436 GLUTATHIONE S-TRANSFERASE, THETA-1; GSTT1; 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST; 600633 TREFOIL FACTOR 3; TFF3; 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9; 601665 OBESITY; 602080 PAGET DISEASE OF BONE; PDB; 602096 ALZHEIMER DISEASE 5; 602101 CLAUDIN 5; CLDN5; 602248 MALIGNANT ATROPHIC PAPULOSIS; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602470 PROSTATE STEM CELL ANTIGEN; PSCA; 602876 OCCLUDIN; OCLN; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5; 603855 CYSTIC FIBROSIS MODIFIER 1; CFM1; 603932 INTERVERTEBRAL DISC DISEASE; IDD; 603968 POLYMERASE, DNA, ETA; POLH; 604131 THALASSEMIAS; 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1; 604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; 605164 HISTONE DEACETYLASE 2; HDAC2; 605428 DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 605616 SOLUTE CARRIER FAMILY 6 (PROLINE IMINO TRANSPORTER), MEMBER 20; SLC6A20; 606667 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 5; LGR5; 606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 607364 BARTTER SYNDROME, TYPE 3; 607616 NIEMANN-PICK DISEASE, TYPE B; 607652 SERINE/THREONINE PROTEIN KINASE 36; STK36; 607822 ALZHEIMER DISEASE 3; 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO; 608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV; 608537 VHL GENE; VHL; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 609663 NLR FAMILY, PYRIN DOMAIN-CONTAINING 9; NLRP9; 609664 NLR FAMILY, PYRIN DOMAIN-CONTAINING 11; NLRP11; 609665 NLR FAMILY, PYRIN DOMAIN-CONTAINING 14; NLRP14; 609704 MICRO RNA 16-1; MIRN16-1; 609806 HYDROXYMETHYLBILANE SYNTHASE; HMBS; 610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3; 611253 KINESIN FAMILY MEMBER 27, KIF27; 611917 JUMONJI DOMAIN-CONTAINING PROTEIN 5; JMJD5; 612173 SPERM-ASSOCIATED ANTIGEN 16; SPAG16; 612416 FACTOR XI DEFICIENCY; 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14

June 2, 2009
New Entries:: 612838 BRUGADA SYNDROME 5
Changed Entries:: 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1; 120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1; 125300 DENS IN DENTE AND PALATAL INVAGINATIONS; 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL; 139250 GROWTH HORMONE 1; GH1; 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1; 150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2; 151600 LEUKONYCHIA TOTALIS; 152424 LOCUS CONTROL REGION, BETA; 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1; 173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2; 173430 PLATELET-DERIVED GROWTH FACTOR, ALPHA POLYPEPTIDE; PDGFA; 176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1; 176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1; 184500 STEATOCYSTOMA MULTIPLEX; 186200 SYNDACTYLY, TYPE IV; 187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5; 191720 5-PRIME,3-PRIME-@NUCLEOTIDASE, CYTOSOLIC; NT5C; 230750 GASTROSCHISIS; 262400 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A; 262500 LARON SYNDROME; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 303100 CHOROIDEREMIA; CHM; 307200 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B; 600791 ENLARGED VESTIBULAR AQUEDUCT; EVA; 600965 DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6; 600994 DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5; 601144 BRUGADA SYNDROME 1; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4; 601776 ADDUCTED THUMB-CLUBFOOT SYNDROME; 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR; 601920 JAGGED 1; JAG1; 602783 SPG7 GENE; SPG7; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3; 603720 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16; 604215 INHIBITOR OF GROWTH 2; ING2; 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B; 604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL; 604581 ATPase FAMILY GENE 3-LIKE 2; AFG3L2; 604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20; 604941 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, ALPHA; PPP2R2A; 605065 CELL DIVISION CYCLE 37, S. CEREVISIAE, HOMOLOG OF; CDC37; 605311 MOVED TO 601776; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 605921 STROMAL INTERACTION MOLECULE 1; STIM1; 606201 WFS1 GENE; WFS1; 608798 DFNA5 GENE; DFNA5; 609649 TRICHILEMMAL CYST 1; TRICY1; 610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A; 611200 TUDOR DOMAIN-CONTAINING PROTEIN 6; TDRD6; 611572 OTOSCLEROSIS 7; OTSC7; 612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7; 612037 MITOCHONDRIAL UBIQUITIN LIGASE ACTIVATOR OF NFKB 1; MUL1; 612144 MICRO RNA LET7C; MIRLET7C

June 1, 2009
New Entries:: 612781 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B
Changed Entries:: 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 136352 FMS-LIKE TYROSINE KINASE 4; FLT4; 139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR; 139250 GROWTH HORMONE 1; GH1; 142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA; 142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1; 144700 RENAL CELL CARCINOMA 1; RCC1; 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2; 153100 LYMPHEDEMA, HEREDITARY, IA; 162091 SCHWANNOMATOSIS; 164200 OCULODENTODIGITAL DYSPLASIA; ODDD; 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A; 187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5; 212750 CELIAC DISEASE; CD; 230740 GAPO SYNDROME; 262400 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A; 262650 KOWARSKI SYNDROME; 304050 AICARDI SYNDROME; AIC; 415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; 516060 ATP SYNTHASE 6; MTATP6; 551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 601652 MYOCILIN; MYOC; 601903 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17; 601916 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS; ARMET; 603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1; 604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL; 606622 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI; 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML; 609322 RHABDOID TUMOR; RDT; 610052 VACUOLAR PROTEIN SORTING 24, YEAST, HOMOLOG OF; VPS24; 611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6; 611777 BRUGADA SYNDROME 2; 612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8; 612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9; 612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10; 612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11; 612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12; 612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13; 612252 C-TYPE LECTIN DOMAIN FAMILY 9, MEMBER A; CLEC9A

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OMIM Update List for June, 2009

June 30, 2009

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