PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for March, 2009

March 31, 2009

New Entries:

300770 PULMONARY ALVEOLAR PROTEINOSIS DUE TO CSF2RA DEFICIENCY

Changed Entries:

107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD

110300 ABO BLOOD GROUP; ABO

114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA

137580 GILLES DE LA TOURETTE SYNDROME; GTS

138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1

138960 COLONY-STIMULATING FACTOR 2; CSF2

139250 GROWTH HORMONE 1; GH1

141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

148840 KLEINE-LEVIN HIBERNATION SYNDROME

173100 PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL

180381 G PROTEIN-DEPENDENT RECEPTOR KINASE 1; GRK1

181031 S-ANTIGEN; SAG

184850 STIFF-PERSON SYNDROME; SPS

194050 WILLIAMS-BEUREN SYNDROME; WBS

210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY

258100 OGUCHI DISEASE 1

268000 RETINITIS PIGMENTOSA; RP

272620 TARDIVE DYSKINESIA

300100 ADRENOLEUKODYSTROPHY; ALD

306250 COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA

307030 HYPERGLYCEROLEMIA

308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1

308100 ICHTHYOSIS, X-LINKED; XLI

308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1

308930 LEIGH SYNDROME, X-LINKED

309200 MAJOR AFFECTIVE DISORDER 2; MAFD2

309400 MENKES DISEASE

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

312060 PROPERDIN DEFICIENCY, X-LINKED

312600 RETINITIS PIGMENTOSA 2; RP2

313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT

313900 THROMBOCYTOPENIA 1; THC1

314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR

314700 XG BLOOD GROUP SYSTEM; XG

314850 KELL BLOOD GROUP PRECURSOR; XK

475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY

480000 SEX-DETERMINING REGION Y; SRY

515000 CHLORAMPHENICOL TOXICITY

530000 KEARNS-SAYRE SYNDROME; KSS

535000 LEBER OPTIC ATROPHY

557000 PEARSON MARROW-PANCREAS SYNDROME

600065 INTEGRIN, BETA-2; ITGB2

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3

603807 MOVED TO 107250

605078 TAR DNA-BINDING PROTEIN; TARDBP

609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1

610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED

611162 MALARIA, SUSCEPTIBILITY TO

612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10

March 30, 2009

New Entries:

612702 KALLMANN SYNDROME 6; KAL6

Changed Entries:

115080 CARDIAC CONDUCTION DEFECT

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A

141180 HEMATOPOIETIC PROTEIN HEM-1; HEM1

146110 HYPOGONADOTROPIC HYPOGONADISM

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147950 KALLMANN SYNDROME 2; KAL2

225100 ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE

256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8

600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11

601332 MOHAWK HOMEOBOX; MKX

601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2

603962 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1

604479 SIRTUIN 1; SIRT1

604694 A-KINASE ANCHOR PROTEIN 10; AKAP10

607805 CYCLIN M4; CNNM4

607807 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 13; ABCA13

608129 UBIQUITIN-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1; UBAC1

610113 ADAMTS-LIKE 4; ADAMTSL4

March 27, 2009

New Entries:

612699 RIMS-BINDING PROTEIN 3; RIMBP3

612700 RIMS-BINDING PROTEIN 3B; RIMBP3B

612701 RIMS-BINDING PROTEIN 3C; RIMBP3C

Changed Entries:

114106 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, BETA ISOFORM; PPP3CB

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

217080 JALILI SYNDROME

221820 GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL

300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300322 LESCH-NYHAN SYNDROME; LNS

300377 DYSTROPHIN; DMD

300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

300422 FG SYNDROME 4; FGS4

300500 ALBINISM, OCULAR, TYPE I; OA1

300622 TN SYNDROME

300624 FRAGILE X MENTAL RETARDATION SYNDROME

300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA

301000 WISKOTT-ALDRICH SYNDROME; WAS

301050 ALPORT SYNDROME, X-LINKED; ATS

302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

306100 GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY

306250 COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA

306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD

600274 FRONTOTEMPORAL DEMENTIA; FTD

601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA ISOFORM 1; PPP3R1

603030 TOLL-LIKE RECEPTOR 4; TLR4

604694 A-KINASE ANCHOR PROTEIN 10; AKAP10

605712 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1

607805 CYCLIN M4; CNNM4

610764 BENZODIAZAPINE RECEPTOR (PERIPHERAL)-ASSOCIATED PROTEIN 1; BZRAP1

611602 RIMS-BINDING PROTEIN 2; RIMBP2

March 26, 2009

New Entries:

300769 MICRO RNA 224; MIR224

612695 VAULT RNA 1-1; VTRNA1-1

612696 VAULT RNA 1-2; VTRNA1-2

612697 VAULT RNA 1-3; VTRNA1-3

Changed Entries:

109565 B-CELL LYMPHOMA 6; BCL6

114620 CRANIOFACIOFRONTODIGITAL SYNDROME

127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

133430 ESTROGEN RECEPTOR 1; ESR1

138250 ALDEHYDE DEHYDROGENASE 18 FAMILY, MEMBER A1; ALDH18A1

143100 HUNTINGTON DISEASE; HD

163890 SYNUCLEIN, ALPHA; SNCA

168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1

171760 ALKALINE PHOSPHATASE, LIVER; ALPL

178500 PULMONARY FIBROSIS, IDIOPATHIC

182125 SEPIAPTERIN REDUCTASE; SPR

190195 TRANSGLUTAMINASE 1; TGM1

191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A

214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1

233910 GTP CYCLOHYDROLASE I DEFICIENCY

251850 DIARRHEA 2, WITH MICROVILLOUS ATROPHY; DIAR2

270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL; DIAR3

277700 WERNER SYNDROME; WRN

277900 WILSON DISEASE

278850 XX MALE SYNDROME

278900 XYLOSIDASE DEFICIENCY

300001 ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY

300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

300377 DYSTROPHIN; DMD

300769 MICRO RNA 224; MIR224

601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI

601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

601686 TELOMERASE-ASSOCIATED PROTEIN 1; TEP1

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

603165 DERMATITIS, ATOPIC

605078 TAR DNA-BINDING PROTEIN; TARDBP

605088 MAJOR VAULT PROTEIN, RAT, HOMOLOG OF; MVP

605124 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 2; SPINT2

605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4

606352 ALSIN

606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ

606540 MYOSIN VB; MYO5B

607449 G PROTEIN-COUPLED RECEPTOR 74; GPR74

608435 MUSCLE RAS VIRAL ONCOGENE HOMOLOG; MRAS

608507 MITOFUSIN 2; MFN2

609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2

609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

609799 NEVER IN MITOSIS GENE A-RELATED KINASE 8; NEK8

610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL; DIAR4

611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4

611943 RIDDLE SYNDROME

612065 POLY(ADP-RIBOSE) POLYMERASE 9; PARP9

612652 MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR

612688 RING FINGER PROTEIN 168; RNF168

612695 VAULT RNA 1-1; VTRNA1-1

612698 MICRO RNA 187; MIR187

March 25, 2009

New Entries:

612670 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 3; UAQTL3

612671 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 3; UAQTL4

612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;

612692 IMMUNODEFICIENCY, HYPOGAMMAGLOBULINEMIA, AND REDUCED B CELLS

612693 UBIQUITIN-RELATED MODIFIER 1, S. CEREVISIAE, HOMOLOG OF; URM1

612694 ATP-BINDING DOMAIN PROTEIN 3; ATPBD3

612698 MICRO RNA 187; MIR187

Changed Entries:

115300 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT

118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP

125250 OPTIC ATROPHY 1 AND DEAFNESS

139240 GROWTH HORMONE 2; GH2

143100 HUNTINGTON DISEASE; HD

146810 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRPHEGAL; IPHEG

146820 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT; IGAT

147245 CD79B ANTIGEN; CD79B

160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT

163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME

168100 PARALYSIS AGITANS, JUVENILE, OF HUNT

172425 PHOSPHOLIPID TRANSFER PROTEIN; PLTP

177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42

184850 STIFF-PERSON SYNDROME; SPS

187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT

189918 TRANSFER RNA LYSINE 1 (ANTICODON UUU); TRNAK1

190990 TROPOMYOSIN 2; TPM2

255995 NATIVE AMERICAN MYOPATHY

260300 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE; PARK15

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA

267500 RETICULAR DYSGENESIA

267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1

268150 RH-NULL, REGULATOR TYPE; RHN

268240 RHEUMATIC FEVER-RELATED ANTIGEN

269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2

269250 SCHNECKENBECKEN DYSPLASIA

269600 SEA-BLUE HISTIOCYTE DISEASE

269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL

270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

272000 SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION

272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1

272800 TAY-SACHS DISEASE; TSD

273250 TESTICULAR REGRESSION SYNDROME; TRS

273300 TESTICULAR TUMORS

273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI

274180 THROMBOXANE A SYNTHASE 1; TBXAS1

274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH

274400 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1

274600 PENDRED SYNDROME; PDS

274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

275240 TINEA IMBRICATA, SUSCEPTIBILITY TO

276200 T-SUBSTANCE ANOMALY

276400 TWINNING, DIZYGOTIC

276410 TWINNING, MONOZYGOTIC

276700 TYROSINEMIA, TYPE I

277440 VITAMIN D-DEPENDENT RICKETS, TYPE II

277480 VON WILLEBRAND DISEASE, RECESSIVE FORM

300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

300568 MICRO RNA 221; MIRN221

300569 MICRO RNA 222; MIRN222

300686 MICRO RNA 448; MIRN448

300767 REPLICATION PROTEIN A4; RPA4

301500 FABRY DISEASE

600044 THROMBOPOIETIN; THPO

601501 VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF; VPS35

601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

602885 MOTILIN RECEPTOR; MLNR

605290 OPA1 GENE; OPA1

605648 F-BOX ONLY PROTEIN 7; FBXO7

605715 B7 HOMOLOG 3

606463 GLUCOSIDASE, BETA, ACID; GBA

606693 KUFOR-RAKEB SYNDROME; KRS

606873 HEXOSAMINIDASE B; HEXB

607688 PARKINSON DISEASE 11; PARK11

608051 MACULAR DYSTROPHY, RETINAL, 2; MCDR2

608341 CYTOCHROME b5 REDUCTASE 1; CYB5R1

608342 CYTOCHROME b5 REDUCTASE 2; CYB5R2

608343 CYTOCHROME b5 REDUCTASE 4; CYB5R4

608777 PERIOSTIN; POSTN

609285 NEMALINE MYOPATHY 4; NEM4

609327 MICRO RNA 124-1; MIR124-1

609355 MICRO RNA 32; MIRN32

610016 MICRO RNA 132; MIRN132

610104 MICRO RNA 125B1; MIRN125B1

610105 MICRO RNA 125B2; MIRN125B2

610164 MICRO RNA 134; MIRN134

610718 MICRO RNA 195; MIRN195

610719 MICRO RNA 199A1; MIRN199A1

610720 MICRO RNA 199A2; MIRN199A2

610721 MICRO RNA 214; MIRN214

610723 MICRO RNA 23B; MIRN23B

610724 MICRO RNA 24-2; MIRN24-2

610939 MICRO RNA 192; MIRN192

610940 MICRO RNA 194-1; MIRN194-1

610941 MICRO RNA 194-2; MIRN194-2

610943 MICRO RNA 215; MIRN215

610946 MICRO RNA 133B; MIRN133B

610959 MICRO RNA 376A-1; MIRN376A-1

610960 MICRO RNA 376A-2; MIRN376A-2

610961 MICRO RNA 376-B; MIRN376B

610983 MICRO RNA 368; MIRN368

611020 MICRO RNA 21; MIRN21

611173 MICRO RNA 375; MIRN375

611599 MICRO RNA 206; MIRN206

611708 MICRO RNA 431; MIRN431

611709 MICRO RNA 127; MIRN127

611710 MICRO RNA 136; MIRN136

611711 MICRO RNA 433; MIRN433

611767 MICRO RNA 126; MIRN126

611794 MICRO RNA 369-3; MIRN369-3

611882 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 2; PNRC2

612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2

612076 HYPOURICEMIA, RENAL, 2; RHUC2

612652 MENTAL RETARDATION, JOINT HYPERLAXITY, AND SKIN LAXITY, WITH OR WITHOUT

612654 TRICHOPLEIN; TCHP

612655 TBC1 DOMAIN FAMILY, MEMBER 7; TBC1D7

612657 CONE-ROD DYSTROPHY 12; CORD12

612658 TIGHT JUNCTION-ASSOCIATED PROTEIN 1; TJAP1

612659 REGULATORY FACTOR X, 6; RFX6

612660 REGULATORY FACTOR X, 7; RFX7

612661 WD REPEAT DOMAIN PROTEIN ANTISENSE TO TP53; WRAP53

612662 TBC1 DOMAIN FAMILY, MEMBER 15; TBC1D15

612663 TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN, FAMILY MEMBER

612664 RAS-LIKE AND ESTROGEN-REGULATED GROWTH INHIBITOR; RERG

612665 TESTIS-EXPRESSED GENE 101; TEX101

612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK

612667 HOLLIDAY JUNCTION RECOGNITION PROTEIN; HJURP

612668 TASTE RECEPTOR, TYPE 2, MEMBER 43; TAS2R43

612669 TASTE RECEPTOR, TYPE 2, MEMBER 44; TAS2R44

612677 PYRIN AND HIN DOMAIN FAMILY, MEMBER 1; PYHIN1

612682 DORSAL REPULSIVE AXON GUIDANCE PROTEIN

612685 NEZHA

612690 SPHEROCYTOSIS, TYPE 5; SPH5

March 24, 2009

New Entries:

300768 CYLICIN 1; CYLC1

612656 EPISODIC ATAXIA, TYPE 6; EA6

612690 SPHEROCYTOSIS, TYPE 5; SPH5

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

109150 MACHADO-JOSEPH DISEASE; MJD

139320 GNAS COMPLEX LOCUS; GNAS

160120 EPISODIC ATAXIA, TYPE 1; EA1

162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA

176883 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6

177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42

182900 SPHEROCYTOSIS, TYPE 1; SPH1

188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP

189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB

233910 GTP CYCLOHYDROLASE I DEFICIENCY

261600 PHENYLKETONURIA; PKU

261630 DIHYDROPTERIDINE REDUCTASE DEFICIENCY

261640 6-@PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS

262300 ACHROMATOPSIA 3; ACHM3

262400 PITUITARY DWARFISM I

262500 GROWTH HORMONE INSENSITIVITY SYNDROME

262850 PLASMIN INHIBITOR DEFICIENCY

264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH

264800 PSEUDOXANTHOMA ELASTICUM; PXE

266500 REFSUM DISEASE

300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1

300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3

300717 MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE

300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET

312865 SHORT STATURE HOMEOBOX; SHOX

502000 AGING

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),

600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE

600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1

602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88

603121 MOVED TO 300768

603960 CALICIN; CCIN

604035 CYLICIN 2; CYLC2

604161 KISS1 RECEPTOR; KISS1R

604472 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13

604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B

605093 SH2B ADAPTOR PROTEIN 3; SH2B3

605250 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 4; ABCC4

607060 PARKINSON DISEASE 8; PARK8

607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;

607227 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X1; MRGPRX1

607228 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X2; MRGPRX2

607229 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X3; MRGPRX3

607230 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X4; MRGPRX4

607231 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER D; MRGPRD

607232 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER E; MRGPRE

607233 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER F; MRGPRF

607234 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER G; MRGPRG

607235 MAS1 ONCOGENE-LIKE; MAS1L

607393 HRPT2 GENE; HRPT2

608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7

608894 ABELSON HELPER INTEGRATION SITE 1; AHI1

608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1

612120 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR C; CIDEC

612349 PHENYLALANINE HYDROXYLASE; PAH

612690 SPHEROCYTOSIS, TYPE 5; SPH5

March 23, 2009

New Entries:

612687 RGM DOMAIN FAMILY, MEMBER B; RGMB

612688 RING FINGER PROTEIN 168; RNF168

612689 TIGHT JUNCTION PROTEIN 3; TJP3

Changed Entries:

102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT

107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

124015 CYTOCHROME P450 OXIDOREDUCTASE; POR

136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1

139220 REMOVED FROM DATABASE

139230 REMOVED FROM DATABASE

139900 HAND SKILL, RELATIVE; HSR

140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1

147490 REMOVED FROM DATABASE

170285 PERICENTRIN 1; PCNT1

178500 PULMONARY FIBROSIS, IDIOPATHIC

187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT

261640 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS

300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES

600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB

600725 SONIC HEDGEHOG; SHH

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4

601009 TIGHT JUNCTION PROTEIN 1; TJP1

601993 NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2

602322 TELOMERASE RNA COMPONENT; TERC

603054 GREMLIN 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM1

603199 INAD-LIKE; INADL

603390 PHOSPHODIESTERASE 8B; PDE8B

604479 SIRTUIN 1; SIRT1

604948 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, BETA; GADD45B

606958 MEMBRANE PROTEIN, PALMITOYLATED 5; MPP5

607709 TIGHT JUNCTION PROTEIN 2; TJP2

608055 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 13; CYP2A13

609116 RESPIRATORY RHYTHMICITY IN SLEEP

609263 SEH1-LIKE PROTEIN; SEH1L

609327 MICRO RNA 124-1; MIR124-1

609631 DEAD/H BOX 58; DDX58

March 20, 2009

New Entries:

612652 MENTAL RETARDATION, JOINT HYPERLAXITY, AND SKIN LAXITY, WITH OR WITHOUT

612682 DORSAL REPULSIVE AXON GUIDANCE PROTEIN

612683 TEKTIN 3; TEKT3

612684 ISTHMIN 2, ZEBRAFISH, HOMOLOG OF; ISM2

612685 NEZHA

612686 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 7;

Changed Entries:

109400 BASAL CELL NEVUS SYNDROME; BCNS

125880 DIAPHORASE 3; DIA3

138250 ALDEHYDE DEHYDROGENASE 18 FAMILY, MEMBER A1; ALDH18A1

162040 NERVE GROWTH FACTOR, GAMMA SUBUNIT; NGFG

162640 NEUROPEPTIDE Y; NPY

167000 OVARIAN CANCER

187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;

191060 TRYPTOPHAN HYDROXYLASE 1; TPH1

221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE

250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

261630 DIHYDROPTERIDINE REDUCTASE DEFICIENCY

300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2

300331 THROMBOCYTOSIS, FAMILIAL X-LINKED

300378 RADIAL RAY DEFICIENCY, X-LINKED

300468 MELANOMA ANTIGEN, FAMILY C, 2; MAGEC2

601074 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 1; CUGBP1

601155 MINOR HISTOCOMPATIBILITY ANTIGEN HA-1; HMHA1

601308 MYELOID TUMOR SUPPRESSOR

601501 VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF; VPS35

602358 HYPOCRETIN; HCRT

602538 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 2; CUGBP2

602681 FORKHEAD BOX O3A; FOXO3A

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

604535 KINESIN FAMILY MEMBER C3; KIFC3

605248 MUCOLIPIN 1; MCOLN1

605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2

605462 BASAL CELL CARCINOMA, MULTIPLE

606148 FATTY ACID DESATURASE 1; FADS1

606149 FATTY ACID DESATURASE 1; FADS2

606150 FATTY ACID DESATURASE 3; FADS3

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

606931 MOVED TO 601501

607733 SCRIBBLE, DROSOPHILA, HOMOLOG OF; SCRIB

607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2; MCFD2

607924 METASTASIS-ASSOCIATED LUNG ADENOCARCINOMA TRANSCRIPT 1; MALAT1

608079 ELAC, E. COLI, HOMOLOG OF, 1; ELAC1

608341 CYTOCHROME b5 REDUCTASE 1; CYB5R1

608342 CYTOCHROME b5 REDUCTASE 2; CYB5R2

608343 CYTOCHROME b5 REDUCTASE 4; CYB5R4

608828 RIBONUCLEASE III, NUCLEAR; RNASEN

609383 ICHTHYIN; ICHYN

609760 PR DOMAIN-CONTAINING PROTEIN 9; PRDM9

611739 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8; BMND8

612334 N-ACYL PHOSPHATIDYLETHANOLAMINE-HYDROLYZING PHOSPHOLIPASE D; NAPEPLD

612681 BRUNO-LIKE 6; BRUNOL6

Clinical Synopsis for 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

March 19, 2009

New Entries:

612676 QUINOID DIHYDROPTERIDINE REDUCTASE; QDPR

612677 PYRIN AND HIN DOMAIN FAMILY, MEMBER 1; PYHIN1

612678 TRINUCLEOTIDE REPEAT-CONTAINING GENE 4; TNRC4

612679 BRUNO-LIKE 4; BRUNOL4

612680 BRUNO-LIKE 5; BRUNOL5

612681 BRUNO-LIKE 6; BRUNOL6

Changed Entries:

105650 DIAMOND-BLACKFAN ANEMIA; DBA

134370 COMPLEMENT FACTOR H; CFH

153550 CHROMOSOME 5q DELETION SYNDROME

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

161200 NAIL-PATELLA SYNDROME; NPS

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

182410 SNEDDON SYNDROME

182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1

193670 WHIM SYNDROME

224900 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE

227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D

229050 FOLATE MALABSORPTION, HEREDITARY

235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL

261630 DIHYDROPTERIDINE REDUCTASE DEFICIENCY

266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP

601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1

601546 PROSPERO-RELATED HOMEOBOX 1; PROX1

601567 LECTIN, MANNOSE-BINDING, 1; LMAN1

602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

603474 RIBOSOMAL PROTEIN S19; RPS19

603673 PATCHED, DROSOPHILA, HOMOLOG OF, 2; PTCH2

603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B

604578 ABSENT IN MELANOMA 2; AIM2

604808 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN

604936 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC

605462 BASAL CELL CARCINOMA, MULTIPLE

607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2

612571 LUNG CANCER SUSCEPTIBILITY 3; LNCR3

612676 QUINOID DIHYDROPTERIDINE REDUCTASE; QDPR

Clinical Synopsis for 143500 GILBERT SYNDROME

March 18, 2009

New Entries:

612672 RAS-ASSOCIATED PROTEIN RAB10; RAB10

612673 RAS-ASSOCIATED PROTEIN RAB14; RAB14

612675 SMALL CAJAL BODY-SPECIFIC RNA 15; SCARNA15

Changed Entries:

105850 ANGIOGENIN; ANG

114480 BREAST CANCER

130600 ELLIPTOCYTOSIS 2; EL2

137800 GLIOMA OF BRAIN, FAMILIAL

138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1

143500 GILBERT SYNDROME

147650 ISOCITRATE DEHYDROGENASE 2; IDH2

147700 ISOCITRATE DEHYDROGENASE 1; IDH1

151300 LEUCYL-CYSTINYL AMINOPEPTIDASE; LNPEP

176300 TRANSTHYRETIN; TTR

182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1

182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB

182900 SPHEROCYTOSIS, TYPE 1; SPH1

191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1

214800 CHARGE SYNDROME

232300 GLYCOGEN STORAGE DISEASE II

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

263300 POLYCYTHEMIA VERA

266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP

300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG

601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2

601674 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 1; EZH1

604095 ECTODYSPLASIN A RECEPTOR; EDAR

604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

605570 RAS-ASSOCIATED PROTEIN RAB11A; RAB11A

607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML

608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7

608985 RING FINGER PROTEIN 2; RNF2

609790 ALZHEIMER DISEASE 11

610254 MICRO RNA 133A1; MIRN133A1

610255 MICRO RNA 133A2; MIRN133A2

611804 ELLIPTOCYTOSIS 1; EL1

611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9

612465 TBC1 DOMAIN FAMILY, MEMBER 4; TBC1D4

March 17, 2009

New Entries:

612668 TASTE RECEPTOR, TYPE 2, MEMBER 43; TAS2R43

612669 TASTE RECEPTOR, TYPE 2, MEMBER 44; TAS2R44

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5

179835 REPLICATION PROTEIN A1, 70-KD; RPA1

229000 KALLIKREIN B, PLASMA, 1; KLKB1

256850 GIANT AXONAL NEUROPATHY 1; GAN1

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

601346 DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,

604365 PROMININ 1; PROM1

606702 PKHD1 GENE; PKHD1

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1

March 16, 2009

New Entries:

612665 TESTIS-EXPRESSED GENE 101; TEX101

612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK

612667 HOLLIDAY JUNCTION RECOGNITION PROTEIN; HJURP

Changed Entries:

114090 CALPASTATIN; CAST

114170 CALPAIN, SMALL SUBUNIT 1; CAPNS1

114220 CALPAIN 1; CAPN1

114230 CALPAIN 2; CAPN2

122700 COUMARIN RESISTANCE

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

151100 LEOPARD SYNDROME 1

179836 REPLICATION PROTEIN A2, 32-KD; RPA2

179837 REPLICATION PROTEIN A3, 14-KD; RPA3

180245 RETINOID X RECEPTOR, ALPHA; RXRA

300377 DYSTROPHIN; DMD

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

603778 CHROMODOMAIN PROTEIN ON Y CHROMOSOME-LIKE; CDYL

604161 KISS1 RECEPTOR; KISS1R

608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5

609712 PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR

609987 STIMULATED BY RETINOIC ACID 8, MOUSE, HOMOLOG OF; STRA8

March 13, 2009

New Entries:

612662 TBC1 DOMAIN FAMILY, MEMBER 15; TBC1D15

612663 TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN, FAMILY MEMBER

612664 RAS-LIKE AND ESTROGEN-REGULATED GROWTH INHIBITOR; RERG

Changed Entries:

114106 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, BETA ISOFORM; PPP3CB

129010 EARLY GROWTH RESPONSE 2; EGR2

158270 MOTILIN; MLN

187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT

209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL

254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION

254200 MYASTHENIA GRAVIS; MG

254500 MYELOMA, MULTIPLE

254600 MYELOPEROXIDASE DEFICIENCY

254780 MYOCLONIC EPILEPSY OF LAFORA

254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

255995 NATIVE AMERICAN MYOPATHY

256300 NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1

256700 NEUROBLASTOMA

256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY

259420 OSTEOGENESIS IMPERFECTA, TYPE III

259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

259900 HYPEROXALURIA, PRIMARY, TYPE I

260350 PANCREATIC CARCINOMA

260400 SHWACHMAN-DIAMOND SYNDROME; SDS

260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX

260530 PARANA HARD-SKIN SYNDROME

260920 HYPER-IgD SYNDROME; HIDS

261600 PHENYLKETONURIA; PKU

261630 PHENYLKETONURIA II

264480 PSEUDOTRISOMY 13 SYNDROME

300126 DYSKERIN; DKC1

601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA ISOFORM 1; PPP3R1

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

602322 TELOMERASE RNA COMPONENT; TERC

602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

605381 RHESUS BLOOD GROUP, C GLYCOPROTEIN; RHCG

605820 NONAKA MYOPATHY; NM

609028 TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN; TIFA

612449 GEN1, DROSOPHILA, HOMOLOG OF; GEN1

612654 TRICHOPLEIN; TCHP

March 12, 2009

New Entries:

300767 REPLICATION PROTEIN A4; RPA4

612654 TRICHOPLEIN; TCHP

612655 TBC1 DOMAIN FAMILY, MEMBER 7; TBC1D7

612657 CONE-ROD DYSTROPHY 12; CORD12

612658 TIGHT JUNCTION-ASSOCIATED PROTEIN 1; TJAP1

612659 REGULATORY FACTOR X, 6; RFX6

612660 REGULATORY FACTOR X, 7; RFX7

612661 WD REPEAT DOMAIN PROTEIN ANTISENSE TO TP53; WRAP53

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107820 ARGINYL-tRNA SYNTHETASE 1; RARS1

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

120970 CONE-ROD DYSTROPHY 2; CORD2

125255 DECORIN; DCN

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

135620 INTEGRIN, ALPHA-5; ITGA5

135630 INTEGRIN, BETA-1; ITGB1

136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1

137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1

160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9

160776 MYOSIN, HEAVY CHAIN 10, NONMUSCLE; MYH10

178500 PULMONARY FIBROSIS, IDIOPATHIC

186745 TALIN 1; TLN1

193065 VINCULIN; VCL

220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

267750 KNOBLOCH SYNDROME, TYPE I

600790 CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL

601532 CASPASE 6, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP6

601544 DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A

602457 FAS-ASSOCIATED VIA DEATH DOMAIN; FADD

602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3

603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3

603786 STARGARDT DISEASE 4; STGD4

604143 EXTRA SPINDLE POLES-LIKE 1; ESPL1

604365 PROMININ 1; PROM1

604986 BRCA1-ASSOCIATED PROTEIN; BRAP

605732 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 21; TNFRSF21

606173 GrpE, E. COLI, HOMOLOG OF, 1; GRPEL1

608033 ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO; ANE1

608051 MACULAR DYSTROPHY, RETINAL, 2; MCDR2

608454 KNOBLOCH SYNDROME, TYPE II

608850 MACULAR DYSTROPHY, RETINAL, 3

610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD

610310 LOC152586 GENE

612377 COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6

612465 TBC1 DOMAIN FAMILY, MEMBER 4; TBC1D4

612573 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 1; MPVQTL1

612574 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 2; MPVQTL2

612575 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 3; MPVQTL3

612577 AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11

612641 ANKYRIN 1; ANK1

612643 DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B

612645 DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B

612646 METASTASIS-ASSOCIATED GENE IN COLON CANCER 1; MACC1

612653 SPHEROCYTOSIS, TYPE 4; SPH4

March 11, 2009

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107941 ARRESTIN, BETA, 2; ARRB2

109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1

114480 BREAST CANCER

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

125255 DECORIN; DCN

133430 ESTROGEN RECEPTOR 1; ESR1

137295 GATA-BINDING PROTEIN 2; GATA2

150330 LAMIN A/C; LMNA

154790 PROTEASE INHIBITOR 5; PI5

164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2

167409 PAIRED BOX GENE 2; PAX2

167416 PAIRED BOX GENE 9; PAX9

173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB

176640 PRION PROTEIN; PRNP

176807 PROSTATE CANCER

182900 SPHEROCYTOSIS, TYPE 1; SPH1

191306 KINASE INSERT DOMAIN RECEPTOR; KDR

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

264480 PSEUDOTRISOMY 13 SYNDROME

300389 RETINITIS PIGMENTOSA 3; RP3

304400 DEAFNESS, X-LINKED 2; DFNX2

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

601088 CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE

601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION

601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;

601663 ESTROGEN RECEPTOR 2; ESR2

601679 GENERAL TRANSCRIPTION FACTOR II-I; GTF2I

605066 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,

605277 GLUCOCORTICOID RECEPTOR DNA-BINDING FACTOR 1; GRLF1

608541 RHO GTPase INVOLVED IN BETA-CATENIN, N-CADHERIN, AND NMDA RECEPTOR

610586 RHO GTPase-ACTIVATING PROTEIN 24; ARHGAP24

612653 SPHEROCYTOSIS, TYPE 4; SPH4

March 10, 2009

New Entries:

612653 SPHEROCYTOSIS, TYPE 4; SPH4

Changed Entries:

109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1

129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

158270 MOTILIN; MLN

163950 NOONAN SYNDROME 1; NS1

163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME

176807 PROSTATE CANCER

182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1

182900 SPHEROCYTOSIS, TYPE 1; SPH1

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

215520 CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES

232300 GLYCOGEN STORAGE DISEASE II

232400 GLYCOGEN STORAGE DISEASE III

242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES

242680 CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA

242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME

244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1

304050 AICARDI SYNDROME; AIC

600144 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 2; ITPR2

600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE

601334 KINESIN LIGHT CHAIN 3; KLC3

602700 E1A-BINDING PROTEIN, 300-KD; EP300

602876 OCCLUDIN; OCLN

603083 HETEROGENEOUS NUCLEAR RIBOPROTEIN L; HNRNPL

605692 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7;

606628 GLYCINE N-METHYLTRANSFERASE; GNMT

606933 TYROSINASE; TYR

606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B

607714 TNFAIP3-INTERACTING PROTEIN 1; TNIP1

610733 NOONAN SYNDROME 4; NS4

612002 DEP DOMAIN-CONTAINING PROTEIN 1; DEPDC1

Clinical Synopsis for 277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE

March 9, 2009

New Entries:

612649 CILIARY DYSKINESIA, PRIMARY, 11; CILD11

612650 CILIARY DYSKINESIA, PRIMARY, 12; CILD12

612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO

Changed Entries:

114480 BREAST CANCER

115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

115300 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

146110 HYPOGONADOTROPIC HYPOGONADISM

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

147510 INSULIN-RELATED DNA POLYMORPHISM; IRDN

158270 MOTILIN; MLN

164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF

191045 TROPONIN T2, CARDIAC; TNNT2

244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1

249620 MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS,

277350 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE

279000 YOUNG SYNDROME

300455 RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600025 KINESIN LIGHT CHAIN 1; KLC1

601334 KINESIN LIGHT CHAIN 3; KLC3

601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D

602135 DYNEIN, AXONEMAL, LIGHT INTERMEDIATE POLYPEPTIDE 1; DNALI1

602591 KINESIN HEAVY CHAIN MEMBER 2A; KIF2A

602885 MOTILIN RECEPTOR; MLNR

603213 KINESIN FAMILY MEMBER 22; KIF22

603330 DYNEIN, AXONEMAL, HEAVY CHAIN 9; DNAH9

603332 DYNEIN, AXONEMAL, HEAVY CHAIN 1; DNAH1

603763 KINESIN FAMILY MEMBER C1; KIFC1

604366 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1

605748 BETA-CAROTENE 15,15-PRIME-MONOOXYGENASE 1; BCMO1

606368 APOLIPOPROTEIN A-V; APOA5

606438 HUNTINGTON DISEASE-LIKE 2; HDL2

606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2

608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2

608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3

608646 CILIARY DYSKINESIA, PRIMARY, 4; CILD4

608647 CILIARY DYSKINESIA, PRIMARY, 5; CILD5

610061 DYNEIN, AXONEMAL, HEAVY CHAIN 7; DNAH7

610382 PROSOPAGNOSIA, HEREDITARY

610852 CILIARY DYSKINESIA, PRIMARY, 6; CILD6

611729 KINESIN LIGHT CHAIN 2; KLC2

611884 CILIARY DYSKINESIA, PRIMARY, 7; CILD7

612274 CILIARY DYSKINESIA, PRIMARY, 8; CILD8

612325 INTESTINAL CELL KINASE; ICK

612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3

612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9

612647 RADIAL SPOKE HEAD 4, CHLAMYDOMONAS, HOMOLOG OF, A; RSPH4A

612648 RADIAL SPOKE HEAD 9, CHLAMYDOMONAS, HOMOLOG OF; RSPH9

612649 CILIARY DYSKINESIA, PRIMARY, 11; CILD11

612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO

March 6, 2009

New Entries:

612626 CHROMOSOME 15q26-qter DELETION SYNDROME

612627 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 4; BFIC4

612643 DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B

612644 DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B

612645 DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B

Changed Entries:

108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1

114480 BREAST CANCER

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A

138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC; MYH3

179550 V-RAL SIMIAN LEUKEMIA VIRAL ONCOGENE HOMOLOG A; RALA

182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA SUBUNIT; SCN2A

193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

312750 RETT SYNDROME; RTT

600101 DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A

600110 STARGARDT DISEASE 3; STGD3

600288 FORKHEAD BOX A2; FOXA2

600733 INSULIN PROMOTER FACTOR 1; IPF1

601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

601090 FORKHEAD BOX C1; FOXC1

601544 DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A

601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1

601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B

601764 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1; BFIC1

602294 FORKHEAD BOX A1; FOXA1

602529 TUBULIN, ALPHA-1A; TUBA1A

603113 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B

603324 GAP JUNCTION PROTEIN, BETA-3; GJB3

603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4

603649 CONE-ROD DYSTROPHY 7; CORD7

604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1

604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4

605653 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3; FBXL3

607342 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 1; CPEB1

607745 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; BFIC3

608358 MYOPATHY, MYOSIN STORAGE

611603 LISSENCEPHALY 3; LIS3

March 5, 2009

New Entries:

300759 MELANOMA ANTIGEN, FAMILY E, 1; MAGEE1

300760 MELANOMA ANTIGEN, FAMILY E, 2; MAGEE2

300761 MELANOMA ANTIGEN, FAMILY B, 10; MAGEB10

300762 MELANOMA ANTIGEN, FAMILY B, 16; MAGEB16

300763 MELANOMA ANTIGEN, FAMILY B, 17; MAGEB17

300764 MELANOMA ANTIGEN, FAMILY A, 9B; MAGEA9B

300765 MELANOMA ANTIGEN, FAMILY D, 4B; MAGED4B

612642 DEAFNESS, AUTOSOMAL DOMINANT 59; DFNA59

612647 RADIAL SPOKE HEAD 4, CHLAMYDOMONAS, HOMOLOG OF, A; RSPH4A

612648 RADIAL SPOKE HEAD 9, CHLAMYDOMONAS, HOMOLOG OF; RSPH9

Changed Entries:

136352 FMS-LIKE TYROSINE KINASE 4; FLT4

143055 CYCLIN T1; CCNT1

153100 LYMPHEDEMA, HEREDITARY, IA

167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1

168605 PERRY SYNDROME

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1

180500 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS

209900 BARDET-BIEDL SYNDROME; BBS

218040 COSTELLO SYNDROME

243500 ISOVALERIC ACIDEMIA; IVA

245300 KURU, SUSCEPTIBILITY TO

246300 LEPROSY, SUSCEPTIBILITY TO

246450 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY

247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE

247800 LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE

248250 HYPOMAGNESEMIA 3, RENAL; HOMG3

248600 MAPLE SYRUP URINE DISEASE

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

250100 METACHROMATIC LEUKODYSTROPHY

250650 METHANE PRODUCTION

250900 METHIONINE MALABSORPTION SYNDROME

251170 MEVALONATE KINASE; MVK

251900 MITOCHONDRIAL MYOPATHY

252800 ALPHA-L-IDURONIDASE; IDUA

253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

300403 NADH-DEHYDROGENASE 1 BETA SUBCOMPLEX, 11; NDUFB11

300468 MELANOMA ANTIGEN, FAMILY C, 2; MAGEC2

300760 MELANOMA ANTIGEN, FAMILY E, 2; MAGEE2

600725 SONIC HEDGEHOG; SHH

601090 FORKHEAD BOX C1; FOXC1

601196 PR DOMAIN-CONTAINING PROTEIN 2; PRDM2

601199 CALCIUM-SENSING RECEPTOR; CASR

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3

602506 MOVED TO 143055

603566 PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1

604229 PETERS ANOMALY

606151 BBS2 GENE; BBS2

607393 HRPT2 GENE; HRPT2

608802 L3MBT-LIKE; L3MBTL

609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1

610148 BBS10 GENE; BBS10

612632 USHER SYNDROME, TYPE IH; USH1H

612636 CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21

612638 NADH-DEHYDROGENASE 1 ALPHA SUBCOMPLEX, 11; NDUFA11

612639 INFLAMMATORY BOWEL DISEASE 26; IBD26

612640 CHROMOSOME 10 OPEN READING FRAME 27; C10ORF27

Clinical Synopsis for 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

March 4, 2009

New Entries:

612637 FEBRILE CONVULSIONS, FAMILIAL, 10; FEB10

Changed Entries:

100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD

121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

124092 INTERLEUKIN 10; IL10

139185 GROWTH ARREST-SPECIFIC 1; GAS1

139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE

147460 SUPEROXIDE DISMUTASE 2; SOD2

159440 MYELIN PROTEIN ZERO; MPZ

160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

176871 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;

180500 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

231060 GENITOPALATOCARDIAC SYNDROME

231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA

231630 GLUTAMATE MONOSODIUM SENSITIVITY

231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD

232200 GLYCOGEN STORAGE DISEASE I

232240 GLYCOGEN STORAGE DISEASE Ic

232600 GLYCOGEN STORAGE DISEASE V

233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,

240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1

240400 HYPOASCORBEMIA

240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID

240600 GLYCOGEN STORAGE DISEASE 0, LIVER

241500 HYPOPHOSPHATASIA, INFANTILE

242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS

242850 IMMUNE DEFICIENCY DISEASE

243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

260800 PENTOSURIA

300067 LISSENCEPHALY, X-LINKED, 1; LISX1

300121 DOUBLECORTIN; DCX

300160 DEAD/H BOX 3, X-LINKED; DDX3X

300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1

400005 UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y

400010 DEAD/H BOX 3, Y-LINKED; DDX3Y

400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED

415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED

601047 CAVEOLIN 1; CAV1

601090 FORKHEAD BOX C1; FOXC1

601367 STROKE, ISCHEMIC

601499 AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2

601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1

602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3

603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6

604158 SECRETED FRIZZLED-RELATED PROTEIN 5; SFRP5

605268 JUNCTOPHILIN 3; JPH3

605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5

606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY

607358 AUTOIMMUNE REGULATOR; AIRE

607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J

609234 EUKARYOTIC TRANSLATION INITIATION FACTOR 2A; EIF2A

March 3, 2009

New Entries:

612573 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 1; MPVQTL1

612574 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 2; MPVQTL2

612575 MEAN PLATELET VOLUME QUANTITATIVE TRAIT LOCUS 3; MPVQTL3

612577 AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11

612646 METASTASIS-ASSOCIATED GENE IN COLON CANCER 1; MACC1

Changed Entries:

103000 ADENYLATE KINASE 1; AK1

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD

109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2

146550 HYPOTRICHOSIS, MARIE UNNA TYPE

172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2

181800 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1; IS1

185050 STORAGE POOL PLATELET DISEASE

187050 TEETH PRESENT AT BIRTH

188470 THYROID CARCINOMA, FOLLICULAR; FTC

228100 FATTY METAMORPHOSIS OF VISCERA

229500 FRUCTOSE AND GALACTOSE INTOLERANCE

229600 FRUCTOSE INTOLERANCE, HEREDITARY

229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

231050 GELEOPHYSIC DYSPLASIA

234500 HARTNUP DISORDER

236900 HYDROXYLYSINURIA

238700 HYPERLYSINEMIA

240200 HYPOADRENOCORTICISM, FAMILIAL

240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1

240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID

241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE

241550 HYPOPLASTIC LEFT HEART SYNDROME

242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE

300365 TOLL-LIKE RECEPTOR 7; TLR7

308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG

600074 CD24 ANTIGEN; CD24

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1

601693 UNCOUPLING PROTEIN 2; UCP2

601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1

602629 DYSTONIA 6, TORSION; DYT6

603029 TOLL-LIKE RECEPTOR 3; TLR3

603030 TOLL-LIKE RECEPTOR 4; TLR4

603903 SICKLE CELL ANEMIA

605193 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 3; DIRAS3

606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY

607358 AUTOIMMUNE REGULATOR; AIRE

607920 MOVED TO 159001

608057 DEOXYRIBONUCLEASE II BETA; DNASE2B

608149 UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14

608893 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19;

609390 FIG4, S. CEREVISIAE, HOMOLOG OF; FIG4

612377 COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6

612465 TPC1 DOMAIN FAMILY, MEMBER 4; TBC1D4

612646 METASTASIS-ASSOCIATED GENE IN COLON CANCER 1; MACC1

Clinical Synopsis for 607920 MOVED TO 159001

March 2, 2009

Changed Entries:

Clinical Synopsis for 232400 GLYCOGEN STORAGE DISEASE III