OMIM Update List for February, 2009

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Nucleotide

Protein

Genome

OMIM Update List for February, 2009

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February 27, 2009
New Entries:: 612377 COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6
Changed Entries:: 103000 ADENYLATE KINASE 1; AK1; 104300 ALZHEIMER DISEASE; AD; 107580 TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A; 113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS; 146550 HYPOTRICHOSIS, MARIE UNNA TYPE; 176100 PORPHYRIA CUTANEA TARDA; 176270 PRADER-WILLI SYNDROME; PWS; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 178642 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2; 190000 TRANSFERRIN; TF; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 205400 TANGIER DISEASE; TGD; 230000 FUCOSIDOSIS; 230200 GALACTOKINASE DEFICIENCY; 230400 GALACTOSEMIA; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; 277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; 300756 ALZHEIMER DISEASE 16; AD16; 600192 SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18; SS18; 601181 RAN-BINDING PROTEIN 2; RANBP2; 602544 PARKIN; PARK2; 603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3; 603188 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8; 604362 LIM DOMAIN ONLY 7; LMO7; 606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 606641 BODY MASS INDEX; BMI; 607238 COMM DOMAIN-CONTAINING PROTEIN 1; COMMD1; 607714 TNFAIP3-INTERACTING PROTEIN 1; TNIP1; 607749 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 3; CDCA3; 607920 MOVED TO 159001; 607955 STERILE ALPHA MOTIFS- AND SH3 DOMAIN-CONTAINING PROTEIN 1; SASH1; 608033 ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO; ANE1; 608216 COMM DOMAIN-CONTAINING PROTEIN 5; COMMD5; 608868 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN; 608869 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN; 608870 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN; 609937 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7; CDCA7; 610113 ADAMTS-LIKE 4; ADAMTSL4; 610140 HEART-HAND SYNDROME, SLOVENIAN TYPE; 611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2; 612299 COMM DOMAIN-CONTAINING PROTEIN 9; COMMD9; 612377 COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6; 612599 PSORIASIS SUSCEPTIBILITY 11; PSORS11; 612635 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

February 26, 2009
New Entries:: 612641 ANKYRIN 1; ANK1
Changed Entries:: 104150 ALPHA-FETOPROTEIN; AFP; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 125305 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.9; EPB49; 142200 HEMOGLOBIN, GAMMA A; HBG1; 147100 IgG HEAVY CHAIN LOCUS; IGHG1; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 168000 PARAGANGLIOMAS 1; PGL1; 172430 ENOLASE 1; ENO1; 173900 POLYCYSTIC KIDNEYS; 174400 POLYDACTYLY, PREAXIAL I; 177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42; 179740 RELAXIN 2; RLN2; 180860 SILVER-RUSSELL SYNDROME; SRS; 181590 SCL/TAL1-INTERRUPTING LOCUS; STIL; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB; 182900 SPHEROCYTOSIS, TYPE 1; SPH1; 194190 WOLF-HIRSCHHORN SYNDROME; WHS; 219000 FRASER SYNDROME; 219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL; 219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC; 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;; 223340 DK PHOCOMELIA SYNDROME; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2; 224500 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2; 226200 ENTEROKINASE DEFICIENCY; 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE; 227500 FACTOR VII DEFICIENCY; 227650 FANCONI ANEMIA; FA; 228000 FARBER LIPOGRANULOMATOSIS; 228100 FATTY METAMORPHOSIS OF VISCERA; 228960 HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY; 234700 HEART BLOCK, CONGENITAL; 235200 HEMOCHROMATOSIS; HFE; 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS; 236000 HODGKIN LYMPHOMA; 236130 HOMOCARNOSINOSIS; 236200 HOMOCYSTINURIA; 270970 SPHEROCYTOSIS, TYPE 3; SPH3; 277700 WERNER SYNDROME; WRN; 600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2; 600465 ANKYRIN 3; ANK3; 601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1; 601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1; 601810 DNA REPLICATION HELICASE 2, YEAST, HOMOLOG OF; DNA2; 602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3; 602968 BREAST CARCINOMA AMPLIFIED SEQUENCE 1; BCAS1; 604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3; 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;; 605124 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 2; SPINT2; 605533 NEUREGULIN 3; NRG3; 605797 ANKYRIN REPEAT, SAM, AND BASIC LEUCINE ZIPPER DOMAIN-CONTAINING 1;; 608078 SCHIZOPHRENIA 11; 608143 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 6; AGPAT6; 608994 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN; 609803 ANKYRIN AND ARMADILLO REPEATS-CONTAINING PROTEIN; ANKAR; 610099 MYOPATHY, DISTAL 3; MPD3; 610583 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 6; ANKRD6; 610702 HEAT-SHOCK 70-KD PROTEIN 12B; HSPA12B

February 25, 2009
New Entries:: 612632 USHER SYNDROME, TYPE IH; USH1H; 612635 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 104300 ALZHEIMER DISEASE; AD; 106280 ANKYLOGLOSSIA; 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1; 126449 DOPAMINE RECEPTOR D1; DRD1; 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4; 172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF; 176200 PORPHYRIA VARIEGATA; 176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1; 190000 TRANSFERRIN; TF; 194190 WOLF-HIRSCHHORN SYNDROME; WHS; 235200 HEMOCHROMATOSIS; HFE; 256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1; 276900 USHER SYNDROME, TYPE I; 277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE; 600241 G PROTEIN-COUPLED RECEPTOR 3; GPR3; 601544 DEAFNESS, AUTOSOMAL DOMINANT 3; DFNA3; 601902 ORIGIN RECOGNITION COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF;; 601978 SIGMA NONOPIOID INTRACELLULAR RECEPTOR 1; SIGMAR1; 602625 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING,; 602682 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1; BAI1; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6; 603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1; 604297 SYNAPTOJANIN 1; SYNJ1; 604943 SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5; 606420 ENGULFMENT AND CELL MOTILITY GENE 1; ELMO1; 608990 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE; 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2; 609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48; 609644 FANCM GENE; FANCM; 610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2; NBIA2; 610812 HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF; HYDIN; 610813 HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF, 2; HYDIN2; 610884 FANCONI ANEMIA-ASSOCIATED PROTEIN, 24-KD; 611140 TELOMERE MAINTENANCE 2, S. CEREVISIAE, HOMOLOG OF; TELO2; 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB; 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME; 612635 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

February 24, 2009
New Entries:: 300756 ALZHEIMER DISEASE 16; AD16; 612599 PSORIASIS SUSCEPTIBILITY 11; PSORS11; 612640 CHROMOSOME 10 OPEN READING FRAME 27; C10ORF27
Changed Entries:: 104250 ALPHA-2C-ADRENERGIC RECEPTOR; ADRA2C; 104300 ALZHEIMER DISEASE; AD; 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 150330 LAMIN A/C; LMNA; 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B; 159460 MYELIN-ASSOCIATED GLYCOPROTEIN; MAG; 161561 INTERLEUKIN 12B; IL12B; 168605 PERRY SYNDROME; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51; 181270 SCALP-EAR-NIPPLE SYNDROME; 184420 FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1; 188550 THYROID CARCINOMA, PAPILLARY; 190000 TRANSFERRIN; TF; 210250 SITOSTEROLEMIA; 212160 CARNITINE DEFICIENCY, MYOPATHIC; 212200 CARNOSINEMIA; 212750 CELIAC DISEASE; CD; 214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; 214800 CHARGE SYNDROME; 215250 CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME; 215600 CIRRHOSIS, FAMILIAL; 215700 CITRULLINEMIA, CLASSIC; 216400 COCKAYNE SYNDROME, TYPE A; CSA; 218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY; 218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2; 218800 CRIGLER-NAJJAR SYNDROME; 220100 CYSTINURIA; 222300 WOLFRAM SYNDROME 1; WFS1; 223000 LACTASE DEFICIENCY, CONGENITAL; 223100 LACTASE PERSISTENCE; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2; 231070 GERODERMA OSTEODYSPLASTICUM; GO; 235200 HEMOCHROMATOSIS; HFE; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 259600 TORG-WINCHESTER SYNDROME; 275000 GRAVES DISEASE; 277950 MOVED TO 259600; 300246 PROTOCADHERIN 11, X-LINKED; PCDH11X; 300401 PROTEOLIPID PROTEIN 1; PLP1; 300633 HYPOSPADIAS 1, X-LINKED; HYSP1; 300757 RP2 GENE; RP2; 300758 HYPOSPADIAS 2, X-LINKED; HYSP2; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600378 INNER MEMBRANE PROTEIN, MITOCHONDRIAL; IMMT; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 601143 DYNACTIN 1; DCTN1; 601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602315 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 3; MAP2K3; 602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3; 602625 BAI1-ASSOCIATED PROTEIN 1; BAIAP1; 602692 GLIOMA PATHOGENESIS-RELATED PROTEIN 1; GLIPR1; 602967 ZINC FINGER PROTEIN 217; ZNF217; 602968 BREAST CARCINOMA AMPLIFIED SEQUENCE 1; BCAS1; 603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1; 603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1; 603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4; 605156 MOVED TO 259600; 605330 INTERLEUKIN 22; IL22; 605364 PSORIASIS SUSCEPTIBILITY 6; PSORS6; 605424 MASTERMIND-LIKE 1; MAML1; 605606 PSORIASIS SUSCEPTIBILITY 7; PSORS7; 605830 FIBROBLAST GROWTH FACTOR RECEPTOR-LIKE 1; FGFRL1; 606665 OPSIN 4; OPN4; 607379 NEUROFIBROMIN 2; NF2; 607562 INTERLEUKIN 23 RECEPTOR; IL23R; 607857 PSORIASIS SUSCEPTIBILITY 9; PSORS9; 607920 MOVED TO 159001; 607929 CCM2 GENE; CCM2; 608330 PRECURSOR mRNA-PROCESSING FACTOR 19, S. CEREVISIAE, HOMOLOG OF; PRPF19; 608581 RP1-LIKE PROTEIN 1; RP1L1; 608651 CENTAURIN, GAMMA-2; CENTG2; 609590 QUAKING, MOUSE, HOMOLOG OF; QKI; 610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19; 610566 MICRO RNA 146A; MIRN146A; 610707 PSORIASIS SUSCEPTIBILITY 8; PSORS8; 611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN; 612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME; 612410 PSORIASIS SUSCEPTIBILITY 10; PSORS10; 612523 IQ MOTIF-CONTAINING PROTEIN H: IQCH; 612568 SPIC TRANSCRIPTION FACTOR; SPIC; 612571 LUNG CANCER SUSCEPTIBILITY 3; LNCR3; 612586 ANEURYSM, INTRACRANIAL BERRY, 9; 612587 ANEURYSM, INTRACRANIAL BERRY, 10; 612589 COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8; 612590 COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9; 612591 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10; 612592 COLORECTAL CANCER, SUSCEPTIBILITY TO, 11; CRCS11; 612593 LUNG CANCER SUSCEPTIBILITY 4; LNCR4; 612594 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2; 612595 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3; 612596 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4; 612609 LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A; 612610 LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B; 612611 LATE CORNIFIED ENVELOPE PROTEIN 2C; LCE2C; 612612 LATE CORNIFIED ENVELOPE PROTEIN 2D; LCE2D; 612613 LATE CORNIFIED ENVELOPE PROTEIN 3A; LCE3A; 612614 LATE CORNIFIED ENVELOPE PROTEIN 3B; LCE3B; 612615 LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C; 612616 LATE CORNIFIED ENVELOPE PROTEIN 3D; LCE3D; 612617 LATE CORNIFIED ENVELOPE PROTEIN 3E; LCE3E; 612618 LATE CORNIFIED ENVELOPE PROTEIN 4A; LCE4A; 612619 LATE CORNIFIED ENVELOPE PROTEIN 5A; LCE5A; 612620 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 6; RASSF6; 612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5; 612622 DIABETES MELLITUS, INSULIN-DEPENDENT, 23; IDDM23; 612623 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2; 612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3; 612625 LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1; 612629 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; ADIPQTL4; 612630 HAIR MORPHOLOGY 1; HRM1; 612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO; 612636 CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21; Clinical Synopsis for 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB; Clinical Synopsis for 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME

February 23, 2009
New Entries:: 612633 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5; 612634 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6; 612636 CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21; 612638 NADH-DEHYDROGENASE 1 ALPHA SUBCOMPLEX, 11; NDUFA11; 612639 INFLAMMATORY BOWEL DISEASE 26; IBD26
Changed Entries:: 104770 AMYLOID P COMPONENT, SERUM; APCS; 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4; 146550 HYPOTRICHOSIS, MARIE UNNA TYPE; 146790 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR; FCGR2A; 147460 SUPEROXIDE DISMUTASE 2; SOD2; 150330 LAMIN A/C; LMNA; 165500 OPTIC ATROPHY 1; OPA1; 168820 PARAOXONASE 1; PON1; 190000 TRANSFERRIN; TF; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 194355 X BOX-BINDING PROTEIN 1; XBP1; 200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY; 235200 HEMOCHROMATOSIS; HFE; 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 276903 MYOSIN VIIA; MYO7A; 277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; 300403 NADH-DEHYDROGENASE 1 BETA SUBCOMPLEX, 11; NDUFB11; 300758 HYPOSPADIAS 2, X-LINKED; HYSP2; 600849 NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 601665 OBESITY; 602302 HAIRLESS, MOUSE, HOMOLOG OF; HR; 602447 PARAOXONASE 2; PON2; 602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1; 603188 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8; 603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1; 604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1; 604180 RIBOSOMAL PROTEIN L24; RPL24; 605166 HISTONE DEACETYLASE 3; HDAC3; 605225 INFLAMMATORY BOWEL DISEASE 7; IBD7; 606641 BODY MASS INDEX; BMI; 610140 HEART-HAND SYNDROME, SLOVENIAN TYPE; 611020 MICRO RNA 21; MIRN21; 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14; 612566 INFLAMMATORY BOWEL DISEASE 24; IBD24; 612625 LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1; Clinical Synopsis for 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; Clinical Synopsis for 276903 MYOSIN VIIA; MYO7A

February 20, 2009
New Entries:: 300758 HYPOSPADIAS 2, X-LINKED; HYSP2; 612630 HAIR MORPHOLOGY 1; HRM1
Changed Entries:: 113705 BREAST CANCER 1 GENE; BRCA1; 114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S; 116952 CELL DIVISION CYCLE 42; CDC42; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 125890 DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY; 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E; 138945 GRANULIN PRECURSOR; GRN; 139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1; 139310 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE; 139450 HAIR MORPHOLOGY 2; HRM2; 143055 CYCLIN T1; CCNT1; 146450 HYPOSPADIAS 3, AUTOSOMAL; HYSP3; 146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION; 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 160900 DYSTROPHIA MYOTONICA 1; 170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME; 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; 259600 TORG-WINCHESTER SYNDROME; 275000 GRAVES DISEASE; 276300 MISMATCH REPAIR CANCER SYNDROME; 300120 MASTERMIND-LIKE DOMAIN-CONTAINING PROTEIN 1; MAMLD1; 300346 HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1; 300633 HYPOSPADIAS 1, X-LINKED; HYSP1; 313700 ANDROGEN RECEPTOR; AR; 600378 INNER MEMBRANE PROTEIN, MITOCHONDRIAL; IMMT; 600819 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1; FXR1; 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH; 601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP; 602322 TELOMERASE RNA COMPONENT; TERC; 602506 MOVED TO 143055; 602529 TUBULIN, ALPHA-1A; TUBA1A; 603251 CYCLIN-DEPENDENT KINASE 9; CDK9; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 603862 CYCLIN T2; CCNT2; 604095 ECTODYSPLASIN A RECEPTOR; EDAR; 605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18; 605327 NUCLEAR FACTOR, INTERLEUKIN 3-REGULATED; NFIL3; 605621 INTERLEUKIN 20 RECEPTOR, BETA; IL20RB; 605687 INTERLEUKIN 19; IL19; 607218 INTERFERON REGULATORY FACTOR 5; IRF5; 607328 HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 1; HEXIM1; 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;; 608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; 608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4; 609326 MICRO RNA 1-1; MIRN1-1; 611100 PROSTATE CANCER, HEREDITARY, 10; HPC10; 611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2; 611603 LISSENCEPHALY 3; LIS3; 611833 MITOCHONDRIAL RIBOSOMAL PROTEIN L20; MRPL20; Clinical Synopsis for 610688 JOUBERT SYNDROME 6; JBTS6; Clinical Synopsis for 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB; Clinical Synopsis for 611131 RETINITIS PIGMENTOSA 37; RP37; Clinical Synopsis for 611377 BRACHYDACTYLY, TYPE B2; BDB2; Clinical Synopsis for 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12

February 19, 2009
Changed Entries:: 104250 ALPHA-2C-ADRENERGIC RECEPTOR; ADRA2C; 106150 ANGIOTENSINOGEN; AGT; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 114840 CARBOXYL-ESTER LIPASE; CEL; 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4; 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; 125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2; 133170 ERYTHROPOIETIN; EPO; 137920 RENAL CYSTS AND DIABETES SYNDROME; 139200 GROUP-SPECIFIC COMPONENT; GC; 142410 HNF1 HOMEOBOX A; HNF1A; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 147760 INTERLEUKIN 1-ALPHA; IL1A; 167413 PAIRED BOX GENE 4; PAX4; 168400 PARASTREMMATIC DWARFISM; 177750 PSEUDOMONILETHRIX; 180104 RETINITIS PIGMENTOSA 9; RP9; 180105 RETINITIS PIGMENTOSA 10; RP10; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB; 186740 CD3 ANTIGEN, GAMMA SUBUNIT; CD3G; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 191480 UNCOMBABLE HAIR SYNDROME; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 194300 WOOLLY HAIR, AUTOSOMAL DOMINANT; 214350 CHANDS; 243110 IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 250100 METACHROMATIC LEUKODYSTROPHY; 268000 RETINITIS PIGMENTOSA; RP; 275000 GRAVES DISEASE; 275550 TRICHORRHEXIS NODOSA SYNDROME; 278150 WOOLLY HAIR, AUTOSOMAL RECESSIVE; 300029 RETINITIS PIGMENTOSA 15; RP15; 300155 RETINITIS PIGMENTOSA 24; RP24; 300277 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 2; IL1RAPL2; 300283 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1; IRAK1; 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP; 300389 RETINITIS PIGMENTOSA 3; RP3; 300424 RETINITIS PIGMENTOSA 23; RP23; 300605 RETINITIS PIGMENTOSA 34; RP34; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 308385 INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA; 312612 RETINITIS PIGMENTOSA 6; RP6; 600059 RETINITIS PIGMENTOSA 13; RP13; 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A; 600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; 600733 INSULIN PROMOTER FACTOR 1; IPF1; 600852 RETINITIS PIGMENTOSA 17; RP17; 601214 NAXOS DISEASE; 601414 RETINITIS PIGMENTOSA 18; RP18; 601881 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX; 602400 ICHTHYOSIS, FOLLICULAR ATROPHODERMA, HYPOTRICHOSIS, AND HYPOHIDROSIS; 602594 RETINITIS PIGMENTOSA 22; RP22; 602626 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; IL1RAP; 603181 INTERLEUKIN ENHANCER-BINDING FACTOR 2; ILF2; 603301 KRUPPEL-LIKE FACTOR 11; KLF11; 603304 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 2; IRAK2; 603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2; 604512 INTERLEUKIN 1 RECEPTOR-LIKE 2; IL1RL2; 605313 RNA-BINDING MOTIF PROTEIN 8A; RBM8A; 605509 INTERLEUKIN 1 FAMILY, MEMBER 6; IL1F6; 605510 INTERLEUKIN 1 FAMILY, MEMBER 7; IL1F7; 606068 RETINITIS PIGMENTOSA 28; RP28; 606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4; 606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6; 607921 RETINITIS PIGMENTOSA 30; RP30; 608133 RETINITIS PIGMENTOSA 7; RP7; 609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION;; 609913 RETINITIS PIGMENTOSA 32; RP32; 609923 RETINITIS PIGMENTOSA 31; RP31; 610359 RETINITIS PIGMENTOSA 33; RP33; 610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7; 611038 MICROPHTHALMIA, ISOLATED 3; MCOP3; 612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2; 612165 RETINITIS PIGMENTOSA 29; RP29; 612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9; Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1; Clinical Synopsis for 222470 TRICHOHEPATOENTERIC SYNDROME; Clinical Synopsis for 265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; Clinical Synopsis for 268300 ROBERTS SYNDROME; RBS; Clinical Synopsis for 269000 SC PHOCOMELIA SYNDROME; Clinical Synopsis for 269920 INFANTILE SIALIC ACID STORAGE DISORDER; Clinical Synopsis for 276710 TYROSINEMIA, TYPE III; Clinical Synopsis for 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; Clinical Synopsis for 276904 USHER SYNDROME, TYPE IC; USH1C; Clinical Synopsis for 277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS; Clinical Synopsis for 300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13; Clinical Synopsis for 300069 CARDIOMYOPATHY, DILATED, 3A; CMD3A; Clinical Synopsis for 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; Clinical Synopsis for 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN; Clinical Synopsis for 300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA; Clinical Synopsis for 300412 MOVED TO 300166; Clinical Synopsis for 303350 MASA SYNDROME; Clinical Synopsis for 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC; Clinical Synopsis for 305390 EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2; Clinical Synopsis for 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS; Clinical Synopsis for 312550 RETINAL DYSPLASIA, PRIMARY; PRD; Clinical Synopsis for 313900 THROMBOCYTOPENIA 1; THC1; Clinical Synopsis for 601067 USHER SYNDROME, TYPE ID; USH1D; Clinical Synopsis for 601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12; Clinical Synopsis for 601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1; Clinical Synopsis for 601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1; Clinical Synopsis for 602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; Clinical Synopsis for 602083 USHER SYNDROME, TYPE IF; USH1F; Clinical Synopsis for 602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS; Clinical Synopsis for 603543 LIMB-MAMMARY SYNDROME; LMS; Clinical Synopsis for 603622 DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17; Clinical Synopsis for 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; Clinical Synopsis for 604369 SIALURIA, FINNISH TYPE; Clinical Synopsis for 604841 STICKLER SYNDROME, TYPE II; STL2; Clinical Synopsis for 605249 SEBASTIAN SYNDROME; SBS; Clinical Synopsis for 606812 FUMARASE DEFICIENCY; Clinical Synopsis for 606966 NEPHRONOPHTHISIS 4; NPHP4; Clinical Synopsis for 606996 SENIOR-LOKEN SYNDROME 4; SLSN4; Clinical Synopsis for 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5; Clinical Synopsis for 607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,; Clinical Synopsis for 607326 SMITH-MCCORT DYSPLASIA; SMC; Clinical Synopsis for 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1; Clinical Synopsis for 607636 VAN BUCHEM DISEASE, TYPE 2; Clinical Synopsis for 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD; Clinical Synopsis for 608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED; Clinical Synopsis for 609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES; Clinical Synopsis for 610188 JOUBERT SYNDROME 5; JBTS5; Clinical Synopsis for 610189 SENIOR-LOKEN SYNDROME 6; SLSN6; Clinical Synopsis for 610256 APHAKIA, CONGENITAL PRIMARY; Clinical Synopsis for 610377 MEVALONIC ACIDURIA; Clinical Synopsis for 610448 CHILBLAIN LUPUS; CHBL

February 18, 2009
New Entries:: 612572 RETINITIS PIGMENTOSA 46; RP46
Changed Entries:: 103000 ADENYLATE KINASE 1; AK1; 114500 COLORECTAL CANCER; CRC; 122700 COUMARIN RESISTANCE; 123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1; 125350 FAILURE OF TOOTH ERUPTION, PRIMARY; PFE; 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1; 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT; 140340 MOVED TO 125370; 143500 GILBERT SYNDROME; 146691 IMP DEHYDROGENASE 2; IMPDH2; 147685 INTERLEUKIN ENHANCER-BINDING FACTOR 1; ILF1; 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB; 156000 MENIERE DISEASE; 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL; 164759 MOVED TO 167000; 167000 OVARIAN CANCER; 180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A; 180300 RHEUMATOID ARTHRITIS; RA; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2; 229120 FOUNTAIN SYNDROME; 241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND; 254500 MYELOMA, MULTIPLE; 266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP; 268000 RETINITIS PIGMENTOSA; RP; 277950 MOVED TO 259600; 590085 TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2; 600105 RETINITIS PIGMENTOSA 12; RP12; 600132 RETINITIS PIGMENTOSA 14; RP14; 600342 G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR; 600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1; 601718 RETINITIS PIGMENTOSA 19; RP19; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602544 PARKIN; PARK2; 602692 GLIOMA PATHOGENESIS-RELATED PROTEIN 1; GLIPR1; 602772 RETINITIS PIGMENTOSA 25; RP25; 604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4; 604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; 604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1; 604526 ISOCITRATE DEHYDROGENASE 3, BETA SUBUNIT; IDH3B; 605156 MOVED TO 259600; 605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ; 605508 INTERLEUKIN 1 FAMILY, MEMBER 8; IL1F8; 605542 INTERLEUKIN 1 FAMILY, MEMBER 9; IL1F9; 605580 INTERLEUKIN 23-ALPHA; IL23A; 605943 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 1; GDE1; 606255 STATURE AS A QUANTITATIVE TRAIT; 606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2; 606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3; 607981 NEGATIVE REGULATOR OF UBIQUITIN-LIKE PROTEINS 1; NUB1; 608380 RETINITIS PIGMENTOSA 26; RP26; 608620 MOVED TO 605232; 608968 V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B;; 610112 C-MAF-INDUCING PROTEIN; 610282 RETINITIS PIGMENTOSA 35; RP35; 610303 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG A; MAFA; 610359 RETINITIS PIGMENTOSA 33; RP33; 610599 RETINITIS PIGMENTOSA 36; RP36; 610702 HEAT-SHOCK 70-KD PROTEIN 12B; HSPA12B; 610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5; 611131 RETINITIS PIGMENTOSA 37; RP37; 611955 PROSTATE CANCER, HEREDITARY, 11; HPC11; 612095 RETINITIS PIGMENTOSA 41; RP41; 612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11; 612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12; 612381 INFLAMMATORY BOWEL DISEASE 23; IBD23; 612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2; 612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1; 612560 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12; 612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6; 612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7; 612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8; 612564 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 9; TXNDC9; 612565 RAS-ASSOCIATED PROTEIN RAB1B; RAB1B; 612566 INFLAMMATORY BOWEL DISEASE 24; IBD24; 612567 INFLAMMATORY BOWEL DISEASE 25; IBD25; 612568 SPIC TRANSCRIPTION FACTOR; SPIC; 612569 CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 1; CCAR1; 612570 FIBRILLIN 2; FBN2; 612572 RETINITIS PIGMENTOSA 46; RP46; 612576 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3; 612578 STATURE QUANTITATIVE TRAIT LOCUS 15; STQTL15; 612579 STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL16; 612580 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3; 612581 MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4; 612582 CHROMOSOME 6pter-p24 DELETION SYNDROME; 612583 SPINSTER, DROSOPHILA, HOMOLOG OF, 1; SPNS1; 612584 SPINSTER, DROSOPHILA, HOMOLOG OF, 2; SPNS2; 612585 CLPTM1-LIKE PROTEIN; CLPTM1L; 612588 BCL2-ASSOCIATED TRANSCRIPTION FACTOR 1; BCLAF1; 612597 CYTOTOXIC AND REGULATORY T-CELL MOLECULE; CRTAM; 612598 RING FINGER PROTEIN 11; RNF11; 612600 RNA METHYLTRANSFERASE-LIKE 1; RNMTL1; 612601 RET FINGER PROTEIN-LIKE 4A; RFPL4A; 612602 RNA-BINDING MOTIF PROTEIN 15B; RBM15B; 612603 LATE CORNIFIED ENVELOPE PROTEIN 1A; LCE1A; 612604 LATE CORNIFIED ENVELOPE PROTEIN 1B; LCE1B; 612605 LATE CORNIFIED ENVELOPE 1C; LCE1C; 612606 LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D; 612607 LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E; 612608 LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F; 612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO; Clinical Synopsis for 109150 MACHADO-JOSEPH DISEASE; MJD; Clinical Synopsis for 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; Clinical Synopsis for 143100 HUNTINGTON DISEASE; HD; Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA 1; Clinical Synopsis for 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD; Clinical Synopsis for 209900 BARDET-BIEDL SYNDROME; BBS; Clinical Synopsis for 209920 BARE LYMPHOCYTE SYNDROME, TYPE II; Clinical Synopsis for 229300 FRIEDREICH ATAXIA 1; FRDA; Clinical Synopsis for 277950 MOVED TO 259600; Clinical Synopsis for 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; Clinical Synopsis for 602668 DYSTROPHIA MYOTONICA 2; DM2; Clinical Synopsis for 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; Clinical Synopsis for 605156 MOVED TO 259600; Clinical Synopsis for 606438 HUNTINGTON DISEASE-LIKE 2; HDL2; Clinical Synopsis for 606798 BLEPHAROSPASM, BENIGN ESSENTIAL; Clinical Synopsis for 607136 SPINOCEREBELLAR ATAXIA 17; SCA17; Clinical Synopsis for 608768 SPINOCEREBELLAR ATAXIA 8; SCA8

February 17, 2009
New Entries:: 612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Changed Entries:: 103000 ADENYLATE KINASE 1; AK1; 107720 APOLIPOPROTEIN C-III; APOC3; 120131 COLLAGEN, TYPE IV, ALPHA-4; COL4A4; 134797 FIBRILLIN 1; FBN1; 138945 GRANULIN PRECURSOR; GRN; 140340 MOVED TO 125370; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 165500 OPTIC ATROPHY 1; OPA1; 180721 ROD OUTER SEGMENT PROTEIN 1; ROM1; 200710 MOVED TO 200610; 200720 MOVED TO 200610; 248340 MALPUECH FACIAL CLEFTING SYNDROME; 257920 MICHELS SYNDROME; 265050 CARNEVALE SYNDROME; 268000 RETINITIS PIGMENTOSA; RP; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 300591 STATURE QUANTITATIVE TRAIT LOCUS 6; STQTL6; 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS; 300633 HYPOSPADIAS, 1, X-LINKED; HYSP1; 400043 DEAFNESS, Y-LINKED 1; DFNY1; 602671 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 606256 STATURE QUANTITATIVE TRAIT LOCUS 2; STQTL2; 606257 STATURE QUANTITATIVE TRAIT LOCUS 3; STQTL3; 606258 STATURE QUANTITATIVE TRAIT LOCUS 4; STQTL4; 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY; 606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2; 606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3; 608133 RETINITIS PIGMENTOSA 7; RP7; 608735 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 13; SLC39A13; 608982 STATURE QUANTITATIVE TRAIT LOCUS 5; STQTL5; 609822 STATURE QUANTITATIVE TRAIT LOCUS 7; STQTL7; 610114 STATURE QUANTITATIVE TRAIT LOCUS 8; STQTL8; 612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE; 612570 FIBRILLIN 2; FBN2; 612576 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3; 612628 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4; 612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO; Clinical Synopsis for 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; Clinical Synopsis for 140340 MOVED TO 125370; Clinical Synopsis for 200710 MOVED TO 200610; Clinical Synopsis for 200720 MOVED TO 200610

February 16, 2009
New Entries:: 612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5; 612628 MICROVASCULAR COMPLICATIONS OF DIABETES 4, SUSCEPTIBILITY TO; MVCD4; 612629 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; ADIPQTL4
Changed Entries:: 109750 BILIVERDIN REDUCTASE A; BLVRA; 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A; 116957 RETINOBLASTOMA-LIKE 1; RBL1; 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 142340 DIAPHRAGMATIC HERNIA, CONGENITAL; 142959 HOMEOBOX A13; HOXA13; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 147720 INTERLEUKIN 1-BETA; IL1B; 155720 MELANOMA, UVEAL; 176730 INSULIN; INS; 179095 UBIQUITIN-CONJUGATING ENZYME E2B; UBE2B; 179200 RADIAL HEADS, POSTERIOR DISLOCATION OF; 180100 RETINITIS PIGMENTOSA 1; RP1; 180200 RETINOBLASTOMA; RB1; 180203 RETINOBLASTOMA-LIKE 2; RBL2; 213300 JOUBERT SYNDROME; JBTS; 268000 RETINITIS PIGMENTOSA; RP; 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; 300155 RETINITIS PIGMENTOSA 24; RP24; 300389 RETINITIS PIGMENTOSA 3; RP3; 300578 CHROMOSOME Xp11.3 DELETION SYNDROME; 300757 RP2 GENE; RP2; 310600 NORRIE DISEASE; ND; 312180 UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A; 312600 RETINITIS PIGMENTOSA 2; RP2; 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR; 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE; 600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ; 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1; 602291 FORKHEAD BOX J1; FOXJ1; 602501 MACROCEPHALY-CAPILLARY MALFORMATION; M-CM; 602971 TUBULIN-SPECIFIC CHAPERONE C; TBCC; 603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1; 603670 BLUE NEVI, FAMILIAL MULTIPLE; 603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11; 603803 DACHSHUND, DROSOPHILA, HOMOLOG OF, 1; DACH1; 604365 PROMININ 1; PROM1; 604695 ADP-RIBOSYLATION FACTOR-LIKE 3; ARL3; 604861 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; LATS2; 605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18; 605751 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2; BFIC2; 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY; 606653 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 6; LGR6; 606667 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 5; LGR5; 606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2; 606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3; 608048 SNF2, LINKER HISTONE, PHD FINGER, RING FINGER, AND HELICASE DOMAINS-CONTAINING; 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8; 612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1

February 13, 2009
New Entries:: 612589 COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8; 612590 COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9; 612591 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10; 612592 COLORECTAL CANCER, SUSCEPTIBILITY TO, 11; CRCS11; 612594 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2; 612595 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3; 612596 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4
Changed Entries:: 103880 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B1; AKR1B1; 106150 ANGIOTENSINOGEN; AGT; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 107720 APOLIPOPROTEIN C-III; APOC3; 107741 APOLIPOPROTEIN E; APOE; 114500 COLORECTAL CANCER; CRC; 114800 CARBONIC ANHYDRASE I; CA1; 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8; 123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 133170 ERYTHROPOIETIN; EPO; 146661 INTERLEUKIN 7 RECEPTOR; IL7R; 146700 ICHTHYOSIS VULGARIS; 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1; 147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA; 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC; 152445 LORICRIN; LOR; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 167413 PAIRED BOX GENE 4; PAX4; 172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF; 188545 THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR; 188825 TISSUE INHIBITOR OF METALLOPROTEINASE 2; TIMP2; 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 222300 WOLFRAM SYNDROME 1; WFS1; 223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL; 243400 ACETYLATION, SLOW; 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2; 600074 CD24 ANTIGEN; CD24; 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER; 600754 MATRIX METALLOPROTEINASE 14; MMP14; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC; 601588 MOVED TO 152445; 601922 ANGIOPOIETIN 2; ANGPT2; 602201 EXTRACELLULAR MATRIX PROTEIN 1; ECM1; 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603865 GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 2; GFPT2; 603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1; 604671 JUMPING TRANSLOCATION BREAKPOINT; JTB; 604740 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 1; SLC39A1; 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C; 605995 KINESIN FAMILY MEMBER 1B; KIF1B; 608197 PEPTIDOGLYCAN RECOGNITION PROTEIN 3; PGLYRP3; 608198 PEPTIDOGLYCAN RECOGNITION PROTEIN 4; PGLYRP4; 608330 PRECURSOR mRNA-PROCESSING FACTOR 19, S. CEREVISIAE, HOMOLOG OF; PRPF19; 609708 LIPOPROTEIN LIPASE; LPL; 611537 CATENIN, BETA-LIKE, 1; CTNNBL1; 612623 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2; 612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3

February 12, 2009
New Entries:: 300757 RP2 GENE; RP2; 612571 LUNG CANCER SUSCEPTIBILITY 3; LNCR3; 612586 ANEURYSM, INTRACRANIAL BERRY, 9; 612587 ANEURYSM, INTRACRANIAL BERRY, 10; 612593 LUNG CANCER SUSCEPTIBILITY 4; LNCR4; 612606 LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D; 612607 LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E; 612608 LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F; 612609 LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A; 612610 LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B; 612611 LATE CORNIFIED ENVELOPE PROTEIN 2C; LCE2C; 612612 LATE CORNIFIED ENVELOPE PROTEIN 2D; LCE2D; 612613 LATE CORNIFIED ENVELOPE PROTEIN 3A; LCE3A; 612614 LATE CORNIFIED ENVELOPE PROTEIN 3B; LCE3B; 612615 LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C; 612616 LATE CORNIFIED ENVELOPE PROTEIN 3D; LCE3D; 612617 LATE CORNIFIED ENVELOPE PROTEIN 3E; LCE3E; 612618 LATE CORNIFIED ENVELOPE PROTEIN 4A; LCE4A; 612619 LATE CORNIFIED ENVELOPE PROTEIN 5A; LCE5A; 612622 DIABETES MELLITUS, INSULIN-DEPENDENT, 23; IDDM23; 612623 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2; 612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3; 612625 LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1; Clinical Synopsis for 612391 HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,
Changed Entries:: 101200 APERT SYNDROME; 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 107720 APOLIPOPROTEIN C-III; APOC3; 107741 APOLIPOPROTEIN E; APOE; 115700 CATARACT, CRYSTALLINE ACULEIFORM; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 123450 CRI-DU-CHAT SYNDROME; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 133170 ERYTHROPOIETIN; EPO; 148066 KERATIN 14; KRT14; 156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; 164400 SPINOCEREBELLAR ATAXIA 1; SCA1; 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2; 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; 168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD; 174100 MOVED TO 192350; 180500 RIEGER SYNDROME, TYPE 1; RIEG1; 191390 INFLAMMATORY BOWEL DISEASE 11; IBD11; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 200990 ACROCALLOSAL SYNDROME; ACLS; 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2; 211980 LUNG CANCER; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 225400 EHLERS-DANLOS SYNDROME, TYPE VI; 228100 FATTY METAMORPHOSIS OF VISCERA; 231070 GERODERMA OSTEODYSPLASTICUM; GO; 231690 GLUTARIC ACIDURIA III; 239400 HYPERPIPECOLATEMIA; 251260 NIJMEGEN BREAKAGE SYNDROME; 259600 TORG-WINCHESTER SYNDROME; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 277480 VON WILLEBRAND DISEASE, RECESSIVE FORM; 277950 MOVED TO 259600; 308370 MOVED TO 312300; 312600 RETINITIS PIGMENTOSA 2; RP2; 312865 SHORT STATURE HOMEOBOX; SHOX; 313900 THROMBOCYTOPENIA 1; THC1; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600501 ABCD SYNDROME; 601451 NEVO SYNDROME; 603543 LIMB-MAMMARY SYNDROME; LMS; 603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4; 603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1; 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; 605156 MOVED TO 259600; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 607983 SCYL1-BINDING PROTEIN 1; SCYL1BP1; 609187 CHROMOSOME 7 OPEN READING FRAME 10; C7ORF10; 609567 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3; 609708 LIPOPROTEIN LIPASE; LPL; 611892 ANEURYSM, INTRACRANIAL BERRY, 6; 612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2; 612391 HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,; 612606 LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D; 612607 LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E; 612608 LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F; 612609 LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A; 612615 LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C; 612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3; Clinical Synopsis for 103500 TIETZ SYNDROME; Clinical Synopsis for 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Clinical Synopsis for 112500 BRACHYDACTYLY, TYPE A1; BDA1; Clinical Synopsis for 113000 BRACHYDACTYLY, TYPE B1; BDB1; Clinical Synopsis for 113100 BRACHYDACTYLY, TYPE C; BDC; Clinical Synopsis for 118600 CHONDROCALCINOSIS 2; CCAL2; Clinical Synopsis for 124200 DARIER-WHITE DISEASE; DAR; Clinical Synopsis for 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF; Clinical Synopsis for 125420 DENTIN DYSPLASIA, TYPE II; Clinical Synopsis for 125490 DENTINOGENESIS IMPERFECTA 1; DGI1; Clinical Synopsis for 129400 RAPP-HODGKIN SYNDROME; RHS; Clinical Synopsis for 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1; Clinical Synopsis for 140350 HAWKINSINURIA; Clinical Synopsis for 144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS; Clinical Synopsis for 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; Clinical Synopsis for 150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN; Clinical Synopsis for 151100 LEOPARD SYNDROME 1; Clinical Synopsis for 153640 FECHTNER SYNDROME; FTNS; Clinical Synopsis for 153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1; Clinical Synopsis for 154780 MARSHALL SYNDROME; Clinical Synopsis for 158350 COWDEN DISEASE; CD; Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1; Clinical Synopsis for 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2; Clinical Synopsis for 169400 PELGER-HUET ANOMALY; PHA; Clinical Synopsis for 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS; Clinical Synopsis for 174100 MOVED TO 192350; Clinical Synopsis for 177820 PSEUDO-VON WILLEBRAND DISEASE; Clinical Synopsis for 177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE; Clinical Synopsis for 183085 MOVED TO 109150; Clinical Synopsis for 184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES; Clinical Synopsis for 184500 STEATOCYSTOMA MULTIPLEX; Clinical Synopsis for 184840 STICKLER SYNDROME, TYPE III; STL3; Clinical Synopsis for 185800 SYMPHALANGISM, PROXIMAL; SYM1; Clinical Synopsis for 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1; Clinical Synopsis for 186570 TARSAL-CARPAL COALITION SYNDROME; TCC; Clinical Synopsis for 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; Clinical Synopsis for 190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3; Clinical Synopsis for 193520 WATSON SYNDROME; Clinical Synopsis for 193530 WEYERS ACROFACIAL DYSOSTOSIS; Clinical Synopsis for 200700 CHONDRODYSPLASIA, GREBE TYPE; Clinical Synopsis for 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; Clinical Synopsis for 215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA; Clinical Synopsis for 215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED; Clinical Synopsis for 222600 DIASTROPHIC DYSPLASIA; Clinical Synopsis for 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4; Clinical Synopsis for 228600 FIBROMATOSIS, JUVENILE HYALINE; Clinical Synopsis for 228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY; Clinical Synopsis for 228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND; Clinical Synopsis for 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1; Clinical Synopsis for 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; Clinical Synopsis for 239400 HYPERPIPECOLATEMIA; Clinical Synopsis for 241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD; Clinical Synopsis for 244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS; Clinical Synopsis for 245010 HAIM-MUNK SYNDROME; HMS; Clinical Synopsis for 250250 CARTILAGE-HAIR HYPOPLASIA; CHH; Clinical Synopsis for 250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; Clinical Synopsis for 251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1; Clinical Synopsis for 252600 MUCOLIPIDOSIS III ALPHA/BETA; Clinical Synopsis for 256050 ATELOSTEOGENESIS, TYPE II; AOII; Clinical Synopsis for 256100 NEPHRONOPHTHISIS 1; NPHP1; Clinical Synopsis for 260920 HYPER-IgD SYNDROME; HIDS; Clinical Synopsis for 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC; Clinical Synopsis for 308370 MOVED TO 312300

February 11, 2009
New Entries:: 612600 RNA METHYLTRANSFERASE-LIKE 1; RNMTL1; 612601 RET FINGER PROTEIN-LIKE 4A; RFPL4A; 612602 RNA-BINDING MOTIF PROTEIN 15B; RBM15B; 612603 LATE CORNIFIED ENVELOPE PROTEIN 1A; LCE1A; 612604 LATE CORNIFIED ENVELOPE PROTEIN 1B; LCE1B; 612605 LATE CORNIFIED ENVELOPE 1C; LCE1C; 612620 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 6; RASSF6
Changed Entries:: 114019 CADHERIN 15; CDH15; 146930 INTERLEUKIN 8; IL8; 167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1; 180100 RETINITIS PIGMENTOSA 1; RP1; 180104 RETINITIS PIGMENTOSA 9; RP9; 180380 RHODOPSIN; RHO; 207800 ARGININEMIA; 207900 ARGININOSUCCINIC ACIDURIA; 208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN; 208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS; 208400 ASPARTYLGLUCOSAMINURIA; 208900 ATAXIA-TELANGIECTASIA; AT; 209800 AUSTRALIA ANTIGEN; 209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF; 275000 GRAVES DISEASE; 600185 BRCA2 GENE; BRCA2; 601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6; 602544 PARKIN; PARK2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603937 RP1 GENE; RP1; 605243 LYMPHOCYTE ANTIGEN 96; LY96; 606077 RNA-BINDING MOTIF PROTEIN 15; RBM15; 606155 FRYNS-AFTIMOS SYNDROME; 606156 SENER SYNDROME; 606951 INTERFERON INDUCED WITH HELICASE C DOMAIN PROTEIN 1; IFIH1; 608578 CEREBROFRONTOFACIAL SYNDROME; 610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19

February 10, 2009
New Entries:: 612582 CHROMOSOME 6p DELETION SYNDROME
Changed Entries:: 103050 ADENYLOSUCCINASE DEFICIENCY; 103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A; 107480 TOWNES-BROCKS SYNDROME; TBS; 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4; 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B; 123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1; 143100 HUNTINGTON DISEASE; HD; 146510 PALLISTER-HALL SYNDROME; PHS; 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3; 174100 MOVED TO 192350; 174200 POLYDACTYLY, POSTAXIAL, TYPE A1; 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS; 176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1; 180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A; 180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1; 180200 RETINOBLASTOMA; RB1; 191100 TUBEROUS SCLEROSIS; TS; 191710 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 1, CYTOSOLIC; CMPK1; 192340 ARGININE VASOPRESSIN; AVP; 192350 VATER ASSOCIATION; 192500 LONG QT SYNDROME 1; LQT1; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 192974 INTEGRIN, ALPHA-2; ITGA2; 193200 VITILIGO; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 193400 VON WILLEBRAND DISEASE; 193530 WEYERS ACROFACIAL DYSOSTOSIS; 194000 WIDOW'S PEAK; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 194070 WILMS TUMOR 1; WT1; 194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS; 200100 ABETALIPOPROTEINEMIA; ABL; 200700 CHONDRODYSPLASIA, GREBE TYPE; 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A; 203500 ALKAPTONURIA; 203750 ALPHA-METHYLACETOACETIC ACIDURIA; 205400 TANGIER DISEASE; TGD; 206500 ANENCEPHALY; 207750 APOLIPOPROTEIN C-II DEFICIENCY; 231000 GAUCHER DISEASE, TYPE III; 236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE; 251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA; 300207 G PROTEIN-COUPLED RECEPTOR 50; GPR50; 600342 G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR; 600596 MICROFIBRILLAR-ASSOCIATED PROTEIN 4; MFAP4; 600665 MELATONIN RECEPTOR 1A; MTNR1A; 600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1; 600804 MELATONIN RECEPTOR 1B; MTNR1B; 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3; 602218 SAL-LIKE 1; SALL1; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B; 603431 EUKARYOTIC TRANSLATION INITIATION FACTOR 4H; EIF4H; 603432 CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 2; CLIP2; 605532 SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 2; SMURF2; 605678 MLX-INTERACTING PROTEIN-LIKE; MLXIPL; 605719 LINKER FOR ACTIVATION OF T CELLS FAMILY, MEMBER 2; LAT2; 605842 TRANSDUCIN-BETA-LIKE 2; TBL2; 606247 STAM-BINDING PROTEIN; STAMBP; 606409 ITCHY, MOUSE, HOMOLOG OF; ITCH; 607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR; 611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4; Clinical Synopsis for 274000 CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB; Clinical Synopsis for 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM; Clinical Synopsis for 606673 BETA-UREIDOPROPIONASE; UPB1

February 9, 2009
New Entries:: 612580 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3; 612581 MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4; 612597 CYTOTOXIC AND REGULATORY T-CELL MOLECULE; CRTAM; 612598 RING FINGER PROTEIN 11; RNF11
Changed Entries:: 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,; 113705 BREAST CANCER 1 GENE; BRCA1; 114019 CADHERIN 15; CDH15; 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA; 127750 DEMENTIA, LEWY BODY; DLB; 140340 MOVED TO 125370; 163950 NOONAN SYNDROME 1; NS1; 168600 PARKINSON DISEASE; PD; 176300 TRANSTHYRETIN; TTR; 176450 CURRARINO SYNDROME; 176630 PRIMARY RELEASE DISORDER OF PLATELETS; 176640 PRION PROTEIN; PRNP; 176730 INSULIN; INS; 176805 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1; PTGS1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; 179000 PURPURA SIMPLEX; 179450 RAGWEED SENSITIVITY; 180200 RETINOBLASTOMA; RB1; 180250 RETINOL-BINDING PROTEIN 4; RBP4; 180370 THIOSULFATE SULFURTRANSFERASE; TST; 181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1; 181500 SCHIZOPHRENIA; SCZD; 181510 SCHIZOPHRENIA 1; SCZD1; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 182205 SEX HORMONE-BINDING GLOBULIN; SHBG; 182230 SEPTOOPTIC DYSPLASIA; 182280 SMALL CELL CANCER OF THE LUNG; 182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 182940 NEURAL TUBE DEFECTS; 183090 SPINOCEREBELLAR ATAXIA 2; SCA2; 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 185200 STRIAE DISTENSAE, FAMILIAL; 186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D; 186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB; 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; 187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1; 188000 THROMBOCYTOPENIA 2; THC2; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE; 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1; 190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1; 190685 DOWN SYNDROME; 233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE; 480000 SEX-DETERMINING REGION Y; SRY; 600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA; 600105 RETINITIS PIGMENTOSA 12; RP12; 600185 BRCA2 GENE; BRCA2; 601253 CAVEOLIN 3; CAV3; 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5; 603023 IKAROS FAMILY ZINC FINGER 1; IKZF1; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 605686 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4; IGSF4; 605943 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 1; GDE1; 605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1; 606463 GLUCOSIDASE, BETA, ACID; GBA; 607462 ATROPHIN 1; ATN1; 607761 KIN OF IRRE-LIKE 3; KIRREL3; 608160 SRY-BOX 9; SOX9; 608508 CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA; 610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3

February 6, 2009
New Entries:: 612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2; 612583 SPINSTER, DROSOPHILA, HOMOLOG OF, 1; SPNS1; 612584 SPINSTER, DROSOPHILA, HOMOLOG OF, 2; SPNS2; 612585 CLPTM1-LIKE PROTEIN; CLPTM1L; 612588 BCL2-ASSOCIATED TRANSCRIPTION FACTOR 1; BCLAF1
Changed Entries:: 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 113705 BREAST CANCER 1 GENE; BRCA1; 114480 BREAST CANCER; 116806 CATENIN, BETA-1; CTNNB1; 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL; 131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1; 137215 GASTRIC CANCER; 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; 164759 MOVED TO 167000; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 167000 OVARIAN CANCER; 167800 PANCREATITIS, HEREDITARY; PCTT; 168000 PARAGANGLIOMAS 1; PGL1; 168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4; 168830 PASSOVOY FACTOR; 169300 PECTUS EXCAVATUM; 169610 PEMPHIGUS VULGARIS, FAMILIAL; 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP; 171100 PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN; 171720 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA; 173100 PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL; 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB; 173900 POLYCYSTIC KIDNEYS; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 174100 POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES; 174300 OROFACIODIGITAL SYNDROME V; OFD5; 174770 ACTINIC PRURIGO; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176010 PORPHYRIA, CHESTER TYPE; PORC; 176100 PORPHYRIA CUTANEA TARDA; 176200 PORPHYRIA VARIEGATA; 176270 PRADER-WILLI SYNDROME; PWS; 176300 TRANSTHYRETIN; TTR; 179740 RELAXIN 2; RLN2; 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS; 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS; 191306 KINASE INSERT DOMAIN RECEPTOR; KDR; 192090 CADHERIN 1; CDH1; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 192340 ARGININE VASOPRESSIN; AVP; 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2; 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; 276300 MISMATCH REPAIR CANCER SYNDROME; 300642 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2; 300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;; 600098 RELATED RAS VIRAL ONCOGENE HOMOLOG 2; RRAS2; 600185 BRCA2 GENE; BRCA2; 600632 OPIOID-BINDING PROTEIN/CELL ADHESION MOLECULE-LIKE; OPCML; 600663 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE D; MEF2D; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602194 HTRA SERINE PEPTIDASE 1; HTRA1; 602544 PARKIN; PARK2; 603101 CARBOXYPEPTIDASE B2, PLASMA; CPB2; 603527 DPH1, S. CEREVISIAE, HOMOLOG OF; DPH1; 603737 OVARIAN GERM CELL CANCER; 604061 SEPTIN 9; SEPT9; 604238 SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1; 604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1; 605872 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER M; CLEC4M; 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1; 606255 STATURE AS A QUANTITATIVE TRAIT; 606852 PARKINSON DISEASE 10; PARK10; 606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS; 607893 OVARIAN CANCER, SUSCEPTIBILITY TO, 1; OVCAS1; 607896 OVARIAN CANCER-ASSOCIATED GENE 2; 608620 MOVED TO 605232; 608828 RIBONUCLEASE III, NUCLEAR; RNASEN; 612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13; 612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14; Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2; Clinical Synopsis for 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP

February 5, 2009
Changed Entries:: 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 123910 GRANZYME B; GZMB; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 129850 EDINBURGH MALFORMATION SYNDROME; 147556 INTEGRIN, ALPHA-6; ITGA6; 147557 INTEGRIN, BETA-4; ITGB4; 156000 MENIERE DISEASE; 156560 METHIONYL-tRNA SYNTHETASE; MARS; 162642 NEUROPEPTIDE Y RECEPTOR Y2; NPY2R; 164343 EARLY B-CELL FACTOR; EBF; 168000 PARAGANGLIOMAS 1; PGL1; 176871 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;; 180073 PHOSPHODIESTERASE 6G, cGMP-SPECIFIC, ROD, GAMMA; PDE6G; 180645 SMALL NUCLEOLAR RNA, H/ACA BOX, 73A; SNORA73A; 182590 TREFOIL FACTOR 2; TFF2; 186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB; 189967 TEA DOMAIN FAMILY MEMBER 1; TEAD1; 191092 TSC2 GENE; TSC2; 218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,; 226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA; 233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE; 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; 276903 MYOSIN VIIA; MYO7A; 300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1; 300098 MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2; 600012 UBIQUITIN-CONJUGATING ENZYME E2L 1; UBE2L1; 600023 CADHERIN 11; CDH11; 600220 PHOSPHOLIPASE C, GAMMA-2; PLCG2; 600596 MICROFIBRILLAR-ASSOCIATED PROTEIN 4; MFAP4; 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2; 601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6; 603196 COCHLIN; COCH; 603861 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER),; 604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT; 605032 COMPLEXIN 1; CPLX1; 605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ; 606641 BODY MASS INDEX; BMI; 607462 ATROPHIN 1; ATN1; 610443 CHROMOSOME 17q21.31 MICRODELETION SYNDROME; 612243 G PROTEIN-COUPLED RECEPTOR 126; GPR126; 612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1; 612579 STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL16

February 4, 2009
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 103830 ALDO-KETO REDUCTASE FAMILY 1, MEMBER A1; AKR1A1; 104613 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6A; CCT6A; 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 123828 CYCLIN-DEPENDENT KINASE 3; CDK3; 125265 RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 128240 UTROPHIN; UTRN; 133430 ESTROGEN RECEPTOR 1; ESR1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO; 147620 INTERLEUKIN 6; IL6; 156790 MICROFIBRILLAR-ASSOCIATED PROTEIN 2; MFAP2; 163950 NOONAN SYNDROME 1; NS1; 164750 OMPHALOCELE; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 166210 OSTEOGENESIS IMPERFECTA, TYPE IIA; 166950 TERATOMA, OVARIAN; 167030 NEPHROLITHIASIS, CALCIUM OXALATE; 176883 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6; 600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3; 600286 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, ALPHA; PI4KA; 600491 MICROFIBRILLAR-ASSOCIATED PROTEIN 3; MFAP3; 600756 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-PRIME; PPP2R4; 600914 SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5; 601103 MICROFIBRILLAR-ASSOCIATED PROTEIN 5; MFAP5; 601112 THIOREDOXIN REDUCTASE 1; TXNRD1; 601120 CADHERIN 5; CDH5; 601167 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 1; P2RY1; 601241 HISTONE DEACETYLASE 1; HDAC1; 601266 dUTP PYROPHOSPHATASE; DUT; 601335 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4; 601364 CADHERIN 13; CDH13; 601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6; 601646 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), DELTA; PPP2R5D; 601647 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), EPSILON; PPP2R5E; 601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1; 601951 CDC-LIKE KINASE 1; CLK1; 602139 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 7; NDUFA7; 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1; 602162 SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1; 602229 SRY-BOX 10; SOX10; 602231 SMALL UBIQUITIN-LIKE MODIFIER 3; SUMO3; 602341 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16; 602508 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, BETA SUBUNIT;; 602672 RAS-ASSOCIATED PROTEIN RAB13; RAB13; 602678 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3; 602877 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 7; PPP1R7; 603004 GLIOBLASTOMA AMPLIFIED SEQUENCE; GBAS; 603035 INTERLEUKIN 16; IL16; 603261 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B; 603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 604434 KALLIKREIN-RELATED PEPTIDASE 11; KLK11; 604438 KALLIKREIN-RELATED PEPTIDASE 7; KLK7; 605315 HISTONE DEACETYLASE 5; HDAC5; 605507 INTERLEUKIN 1 FAMILY, MEMBER 5; IL1F5; 605539 KALLIKREIN-RELATED PEPTIDASE 12; KLK12; 606673 BETA-UREIDOPROPIONASE; UPB1; 608736 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14; 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290; 612570 FIBRILLIN 2; FBN2

February 3, 2009
New Entries:: 612578 STATURE QUANTITATIVE TRAIT LOCUS 15; STQTL15; 612579 STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL 16
Changed Entries:: 102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO; 104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA; 104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT; 105150 AMYLOIDOSIS VI; 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS; 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1; 107730 APOLIPOPROTEIN B; APOB; 107750 ARBITRARY RESTRICTION POLYMORPHISM 1; 107776 AQUAPORIN 1; AQP1; 108800 ATRIAL SEPTAL DEFECT 1; ASD1; 109730 AORTIC VALVE DISEASE; 110450 BLOOD GROUP--COLTON; CO; 112500 BRACHYDACTYLY, TYPE A1; BDA1; 114050 CALBINDIN 1; CALB1; 114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA; 114290 CAMPOMELIC DYSPLASIA; 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD; 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF; 120820 COMPLEMENT COMPONENT 4B; C4B; 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8; 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS; 126180 DISCRIMINATION, TWO-POINT, REDUCTION IN; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 136000 FINGERPRINTS, ABSENCE OF; 136820 FUCOSIDASE, ALPHA-L, 2; FUCA2; 137800 GLIOMA OF BRAIN, FAMILIAL; 138250 ALDEHYDE DEHYDROGENASE 18 FAMILY, MEMBER A1; ALDH18A1; 139190 GROWTH HORMONE-RELEASING HORMONE; GHRH; 139200 GROUP-SPECIFIC COMPONENT; GC; 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2; 142700 ACETABULAR DYSPLASIA; 143500 GILBERT SYNDROME; 146500 HYPOTENSION, ORTHOSTATIC; 146900 IgA CONSTANT HEAVY CHAIN 1; IGHA1; 147050 IgE RESPONSIVENESS, ATOPIC; IGER; 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 147510 INSULIN-RELATED DNA POLYMORPHISM; IRDN; 147540 INSECT STINGS, HYPERSENSITIVITY TO; 147660 INTERFERON, ALPHA-1; IFNA1; 149400 HYPEREKPLEXIA, HEREDITARY; 160900 DYSTROPHIA MYOTONICA 1; 161200 NAIL-PATELLA SYNDROME; NPS; 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 167870 PANIC DISORDER 1; PAND1; 180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A; 180901 RYANODINE RECEPTOR 1; RYR1; 181500 SCHIZOPHRENIA; SCZD; 182230 SEPTOOPTIC DYSPLASIA; 200600 ACHONDROGENESIS, TYPE IA; ACG1A; 200610 ACHONDROGENESIS, TYPE II; ACG2; 200710 MOVED TO 200610; 200720 MOVED TO 200610; 232400 GLYCOGEN STORAGE DISEASE III; 252150 MOLYBDENUM COFACTOR DEFICIENCY; 257200 NIEMANN-PICK DISEASE, TYPE A; 300042 ALOPECIA, CONGENITAL; 300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO; 300144 GLUTAMATE DEHYDROGENASE 2; GLUD2; 300159 THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X; 300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA; 300414 PHD FINGER PROTEIN 6; PHF6; 400004 RETINITIS PIGMENTOSA, Y-LINKED; RPY; 600685 KARYOPHERIN ALPHA-2; KPNA2; 600972 ACHONDROGENESIS, TYPE IB; ACG1B; 601137 GUANYLYL CYCLASE, MEMBRANE, TYPE D, MURINE; 601661 UBIQUITIN-CONJUGATING ENZYME E2I; UBE2I; 601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; 601893 TRIPLE FUNCTIONAL DOMAIN; TRIO; 602275 GUANYLATE CYCLASE ACTIVATOR 1B; GUCA1B; 602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7; 603178 METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE; MMSDH; 603368 CYCLIN-DEPENDENT KINASE 6; CDK6; 603707 MOLYBDENUM COFACTOR SYNTHESIS GENE 1; MOCS1; 603708 MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2; 604931 CORTISONE REDUCTASE DEFICIENCY; 605329 MOVED TO 605205; 605334 MOVED TO 300290; 605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA; 606178 HEDGEHOG-INTERACTING PROTEIN; HHIP; 606255 STATURE AS A QUANTITATIVE TRAIT; 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2; 608447 CAROTID INTIMAL MEDIAL THICKNESS 2; 611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9; 611797 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE; UQCC; 611799 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL; 611920 C-REACTIVE PROTEIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; CRPQTL1; 612218 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38; 612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10; 612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11; 612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12; 612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13; 612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14; 612480 TCDD-INDUCIBLE POLY(ADP-RIBOSE) POLYMERASE; TIPARP; 612523 IQ MOTIF-CONTAINING PROTEIN H: IQCH; 612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1; 612570 FIBRILLIN 2; FBN2; Clinical Synopsis for 106490 ANNEXIN A3; ANXA3; Clinical Synopsis for 106491 ANNEXIN A4; ANXA4; Clinical Synopsis for 107290 ANTIPYRINE METABOLISM; Clinical Synopsis for 300624 FRAGILE X MENTAL RETARDATION SYNDROME; Clinical Synopsis for 600186 MOVED TO 300016

February 2, 2009
New Entries:: 612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1; 612569 CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 1; CCAR1; 612570 FIBRILLIN 2; FBN2; 612576 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3
Changed Entries:: 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 113100 BRACHYDACTYLY, TYPE C; BDC; 114830 CARBONYL REDUCTASE 1; CBR1; 117550 SOTOS SYNDROME; 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1; 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1; 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA; 123695 PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, ALPHA ISOFORM; PCYT1A; 125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 126060 DIHYDROFOLATE REDUCTASE; DHFR; 133430 ESTROGEN RECEPTOR 1; ESR1; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 138322 GLUTATHIONE PEROXIDASE 4; GPX4; 138965 CHEMOKINE, CXC MOTIF, LIGAND 6; CXCL6; 143100 HUNTINGTON DISEASE; HD; 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1; 147720 INTERLEUKIN 1-BETA; IL1B; 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1; 154700 MARFAN SYNDROME; MFS; 159900 MYOCLONIC DYSTONIA; 161561 INTERLEUKIN 12B; IL12B; 164050 NUCLEOSIDE PHOSPHORYLASE; NP; 166945 NEIGHBOR OF BRCA1 GENE 1; NBR1; 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1; 173900 POLYCYSTIC KIDNEYS; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176640 PRION PROTEIN; PRNP; 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1; 179600 RAYNAUD DISEASE; 179618 RECOVERIN; RCV1; 180200 RETINOBLASTOMA; RB1; 180202 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1A; JARID1A; 181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1; 181590 SCL-INTERRUPTING LOCUS; SIL; 191170 TUMOR PROTEIN p53; TP53; 191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B; 191290 TYROSINE HYDROXYLASE; TH; 200110 ABLEPHARON-MACROSTOMIA SYNDROME; 208400 ASPARTYLGLUCOSAMINURIA; 211750 C SYNDROME; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A; 217000 COMPLEMENT COMPONENT 2 DEFICIENCY; 222300 WOLFRAM SYNDROME 1; WFS1; 227810 FANCONI-BICKEL SYNDROME; FBS; 230400 GALACTOSEMIA; 234100 HALLERMANN-STREIFF SYNDROME; HSS; 235200 HEMOCHROMATOSIS; HFE; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; 259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5; 261600 PHENYLKETONURIA; PKU; 267750 KNOBLOCH SYNDROME, TYPE I; 276000 PROTEASE, SERINE, 1; PRSS1; 300024 ZINC FINGER PROTEIN 157; ZNF157; 300149 CBP/p300-INTERACTING TRANSACTIVATOR WITH GLU/ASP-RICH C-TERMINAL DOMAIN,; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 300336 NEUROLIGIN 3; NLGN3; 300557 PARKINSON DISEASE 12; 301845 BAZEX SYNDROME; BZX; 306190 MOVED TO 300200; 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; 314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG; 600007 FMS-RELATED TYROSINE KINASE 3 LIGAND; FLT3LG; 600140 CREB-BINDING PROTEIN; CREBBP; 600215 MICROFIBRILLAR-ASSOCIATED PROTEIN 1; MFAP1; 600398 ZINC FINGER PROTEIN 160; ZNF160; 600403 FIBROBLAST ACTIVATION PROTEIN, ALPHA; FAP; 600475 TAF10 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 600491 MICROFIBRIL-ASSOCIATED PROTEIN 3; MFAP3; 600583 TEC PROTEIN TYROSINE KINASE; TEC; 600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1; 600733 INSULIN PROMOTER FACTOR 1; IPF1; 600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2; 600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS; 601032 PROTEIN KINASE N1; PKN1; 601269 COMPLEMENT COMPONENT C1q-BINDING PROTEIN; C1QBP; 601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS; 601460 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2A1; SLCO2A1; 601467 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1; 601548 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1; 601584 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 2; PTP4A2; 601713 GLIA MATURATION FACTOR, BETA; GMFB; 601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30; 601807 MATRIX METALLOPROTEINASE 19; MMP19; 601866 SEMAPHORIN 4D; SEMA4D; 601946 MOVED TO 601531; 601962 TAP-BINDING PROTEIN; TAPBP; 602312 MOVED TO 142711; 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR; 602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24; 602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE; 602565 CHEMOKINE, CC MOTIF, LIGAND 25; CCL25; 602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE; 602681 FORKHEAD BOX O3A; FOXO3A; 602836 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 5; P2RX5; 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603192 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT C,; 603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 603718 CLAUDIN 1; CLDN1; 603862 CYCLIN T2; CCNT2; 604039 MENINGIOMA-EXPRESSED ANTIGEN 5; MGEA5; 604607 HOMEOBOX B13; HOXB13; 604811 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; LILRB1; 604958 ACTIN-LIKE 6A; ACTL6A; 605248 MUCOLIPIN 1; MCOLN1; 605390 LEUPAXIN; LPXN; 605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ; 605614 GENERAL CONTROL OF AMINO ACID SYNTHESIS 1, YEAST, HOMOLOG-LIKE 1;; 605631 NAPSIN A; 605638 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 6; BIRC6; 606059 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR ALPHA; PKIA; 606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2; 606504 CANCER SUSCEPTIBILITY CANDIDATE 3; CASC3; 606641 BODY MASS INDEX; BMI; 606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2; 606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3; 606924 MOVED TO 300748; 607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1; 607132 LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES; 607344 TUBULIN, DELTA-1; 607623 NPC1 GENE; NPC1; 607929 CCM2 GENE; CCM2; 608285 NAD SYNTHETASE 1; NADSYN1; 608529 FIBRILLIN 3; FBN3; 608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B; 609688 MICRO RNA 196B; MIRN196B; 609813 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3; SCDO3; 610085 FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A; 610262 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6; 610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B; 610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; 611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2; 611720 CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4; 612187 HEME-RESPONSIVE GENE 1; 612424 EYES SHUT, DROSOPHILA, HOMOLOG OF; EYS; 612570 FIBRILLIN 2; FBN2; Clinical Synopsis for 115150 CARDIOFACIOCUTANEOUS SYNDROME; Clinical Synopsis for 117550 SOTOS SYNDROME; Clinical Synopsis for 118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT; Clinical Synopsis for 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; Clinical Synopsis for 131300 CAMURATI-ENGELMANN DISEASE; Clinical Synopsis for 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; Clinical Synopsis for 207750 APOLIPOPROTEIN C-II DEFICIENCY; Clinical Synopsis for 216550 COHEN SYNDROME; COH1; Clinical Synopsis for 234100 HALLERMANN-STREIFF SYNDROME; HSS; Clinical Synopsis for 235730 MOWAT-WILSON SYNDROME; Clinical Synopsis for 256050 ATELOSTEOGENESIS, TYPE II; AOII; Clinical Synopsis for 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY; Clinical Synopsis for 268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM; Clinical Synopsis for 277580 WAARDENBURG-SHAH SYNDROME; Clinical Synopsis for 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; Clinical Synopsis for 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN; Clinical Synopsis for 305100 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED; Clinical Synopsis for 306190 MOVED TO 300200; Clinical Synopsis for 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Clinical Synopsis for 516000 COMPLEX I, SUBUNIT ND1; MTND1; Clinical Synopsis for 600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE; Clinical Synopsis for 605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS; Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS; Clinical Synopsis for 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL; Clinical Synopsis for 610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B; Clinical Synopsis for 610233 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS

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OMIM Update List for February, 2009

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