PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for April, 2009

April 30, 2009

New Entries:

612771 DUAL OXIDASE MATURATION FACTOR 1; DUOXA1

612772 DUAL OXIDASE MATURATION FACTOR 2; DUOXA2

Changed Entries:

132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS

135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP

150600 LEGG-CALVE-PERTHES DISEASE

151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT

159900 MYOCLONIC DYSTONIA

180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B

190685 DOWN SYNDROME

204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED

223000 LACTASE DEFICIENCY, CONGENITAL

256100 NEPHRONOPHTHISIS 1; NPHP1

266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

269250 SCHNECKENBECKEN DYSPLASIA

270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO

271700 SPONDYLOPERIPHERAL DYSPLASIA

276901 USHER SYNDROME, TYPE IIA; USH2A

276905 MOVED TO 605472

300017 FILAMIN A; FLNA

300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL

300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP

300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;

300702 MELANOMA ANTIGEN, FAMILY D, 4; MAGED4

300747 STEROID SULFATASE; STS

600396 DEAD/H BOX 8; DDX8

601900 INTERFERON REGULATORY FACTOR 4; IRF4

602851 G PROTEIN-COUPLED RECEPTOR 98; GPR98

602888 BETAINE-HOMOCYSTEINE METHYLTRANSFERASE; BHMT

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603149 INTERLEUKIN 17A; IL17A

603353 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER

603786 STARGARDT DISEASE 4; STGD4

604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA

605204 TORSIN-A; DYT1

605384 INTERLEUKIN 21; IL21

605472 USHER SYNDROME, TYPE IIC; USH2C

605584 DEAD/H BOX 38; DDX38

606138 CELL GROWTH REGULATOR WITH RING FINGER DOMAIN 1; CGRRF1

606758 DUAL OXIDASE 1; DUOX1

606759 DUAL OXIDASE 2; DUOX2

607042 CLN3 GENE; CLN3

607181 RECEPTOR-TRANSPORTING PROTEIN 3; RTP3

608588 DEXH BOX POLYPEPTIDE 58; DHX58

608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY

609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES

609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR

609631 DEAD BOX POLYPEPTIDE 58; DDX58

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

610062 DYNEIN, AXONEMAL, LIGHT CHAIN 1; DNAL1

610094 DEF6, MOUSE, HOMOLOG OF; DEF6

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

610858 CHROMOSOME 14 OPEN READING FRAME 166; C14ORF166

610937 RPGRIP1-LIKE; RPGRIP1L

610942 MICRO RNA 204; MIRN204

611377 BRACHYDACTYLY, TYPE B2; BDB2

612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO

612720 DEAH BOX POLYPEPTIDE 29; DHX29

612767 DEAH BOX POLYPEPTIDE 36; DHX36

Clinical Synopsis for 159900 MYOCLONIC DYSTONIA

Clinical Synopsis for 609285 NEMALINE MYOPATHY 4; NEM4

April 29, 2009

New Entries:

612770 PHOSPHATIDYLSERINE DECARBOXYLASE; PISD

Changed Entries:

102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

104300 ALZHEIMER DISEASE; AD

109720 BILIARY CIRRHOSIS, PRIMARY; PBC

118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1

124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2

124092 INTERLEUKIN 10; IL10

125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

135600 FIBRONECTIN 1; FN1

137800 GLIOMA OF BRAIN, FAMILIAL

138970 COLONY-STIMULATING FACTOR 3; CSF3

147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

151623 LI-FRAUMENI SYNDROME 1; LFS1

154700 MARFAN SYNDROME; MFS

162320 TACHYKININ 1; TAC1

163950 NOONAN SYNDROME 1; NS1

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

167400 PAROXYSMAL EXTREME PAIN DISORDER

171860 PHOSPHOFRUCTOKINASE, LIVER TYPE; PFKL

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

191170 TUMOR PROTEIN p53; TP53

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

262700 SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

306700 HEMOPHILIA A

600288 FORKHEAD BOX A2; FOXA2

601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2

602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER

602146 LIM HOMEOBOX GENE 4; LHX4

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602565 CHEMOKINE, CC MOTIF, LIGAND 25; CCL25

603028 TOLL-LIKE RECEPTOR 2; TLR2

603030 TOLL-LIKE RECEPTOR 4; TLR4

603612 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10B; TNFRSF10B

603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2

604322 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER

604369 SIALURIA, FINNISH TYPE

604738 CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9

606264 C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A

606606 MOVED TO 262700

610259 NARCOLEPSY CANDIDATE REGION GENE 1A

610270 MONOACYLGLYCEROL O-ACYLTRANSFERASE 2; MOGAT2

612172 DEAD BOX POLYPEPTIDE 23; DDX23

612182 N-ACETYLTRANSFERASE 2; NAT2

April 28, 2009

New Entries:

612767 DEAH BOX POLYPEPTIDE 36; DHX36

612768 FOLLICULIN-INTERACTING PROTEIN 2; FNIP2

612769 NONCODING RNA 84; NCRNA00084

Changed Entries:

105850 ANGIOGENIN; ANG

106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1

111150 BLOOD GROUP--LUTHERAN INHIBITOR; INLU

114480 BREAST CANCER

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

162332 TACHYKININ RECEPTOR 3; TACR3

229300 FRIEDREICH ATAXIA 1; FRDA

300568 MICRO RNA 221; MIRN221

300569 MICRO RNA 222; MIRN222

600599 KRUPPEL-LIKE FACTOR 1; KLF1

601254 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 6; MAP2K6

603684 LIPASE, ENDOTHELIAL; LIPG

606105 CHOLINE TRANSPORTER-LIKE PROTEIN 1

606106 CHOLINE TRANSPORTER-LIKE PROTEIN 2

606107 CHOLINE TRANSPORTER-LIKE PROTEIN 4

606765 THYROID PEROXIDASE; TPO

607924 METASTASIS-ASSOCIATED LUNG ADENOCARCINOMA TRANSCRIPT 1; MALAT1

609479 LEUCINE ZIPPER- AND STERILE ALPHA MOTIF-CONTAINING KINASE

609873 INTELECTIN 1; ITLN1

609874 INTELECTIN 2; ITLN2

609986 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 6; CARD6

610594 FOLLICULIN-INTERACTING PROTEIN 1; FNIP1

610942 MICRO RNA 204; MIRN204

611043 LIN28, C. ELEGANS, HOMOLOG OF; LIN28

611537 CATENIN, BETA-LIKE, 1; CTNNBL1

611737 SEPTIN 10; SEPT10

611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9

611910 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER

612018 CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA

612037 MITOCHONDRIAL UBIQUITIN LIGASE ACTIVATOR OF NFKB 1; MUL1

612096 OTOSCLEROSIS 8; OTSC8

612213 BOVINE SEMINAL PLASMA PROTEIN-LIKE 1

Clinical Synopsis for 220150 HYPOURICEMIA, RENAL, 1; RHUC1

Clinical Synopsis for 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE

Clinical Synopsis for 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB

April 27, 2009

New Entries:

612762 SUPPRESSOR OF TY 7-LIKE; SUPT7L

612766 CHROMOSOME 19 OPEN READING FRAME 62; C19ORF62

Changed Entries:

113705 BREAST CANCER 1 GENE; BRCA1

182125 SEPIAPTERIN REDUCTASE; SPR

206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA

230800 GAUCHER DISEASE, TYPE I

254500 MYELOMA, MULTIPLE

265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1

267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1

300770 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

303350 MASA SYNDROME

306250 COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA

308700 KALLMANN SYNDROME 1; KAL1

600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1

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

600946 GROWTH HORMONE RECEPTOR; GHR

601129 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8; CYP2C8

601444 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 1; BLOC1S1

602276 TRANSCRIPTIONAL ADAPTOR 2-LIKE; TADA2L

602301 K(LYSINE) ACETYLTRANSFERASE 2A; KAT2A

602812 HISTONE 1, H3C; HIST1H3C

602824 HISTONE 1, H4F; HIST1H4F

603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1

603853 TETRASPANIN 32; TSPAN32

605681 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1B; BAZ1B

605705 SNF1-LIKE KINASE; SNF1LK

606576 TAF3 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

606716 N-ACETYLTRANSFERASE 8; NAT8

607640 ATAXIN 7; ATXN7

608190 N-ACETYLTRANSFERASE 8B; NAT8B

608588 DEXH BOX POLYPEPTIDE 58; DHX58

608790 ADA2, YEAST, HOMOLOG OF, BETA

609862 TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6

610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2

610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3

611043 LIN28, C. ELEGANS, HOMOLOG OF; LIN28

612116 UBIQUITIN-SPECIFIC PROTEASE 22; USP22

612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14

612763 TRANSCRIPTIONAL ADAPTOR 1-LIKE; TADA1L

Clinical Synopsis for 145410 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT

Clinical Synopsis for 156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Clinical Synopsis for 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

Clinical Synopsis for 182125 SEPIAPTERIN REDUCTASE; SPR

Clinical Synopsis for 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Clinical Synopsis for 200500 ACHEIROPODY

Clinical Synopsis for 214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4

Clinical Synopsis for 225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

Clinical Synopsis for 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE

Clinical Synopsis for 275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

Clinical Synopsis for 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

Clinical Synopsis for 604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

Clinical Synopsis for 607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4

Clinical Synopsis for 608022 DIAPHANOSPONDYLODYSOSTOSIS

Clinical Synopsis for 608395 KARAK SYNDROME

Clinical Synopsis for 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12

Clinical Synopsis for 612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE

April 24, 2009

New Entries:

300773 APEX NUCLEASE (APURINIC/APYRIMIDINIC ENDONUCLEASE) 2; APEX2

612760 SNF-RELATED KINASE; SNRK

612761 SWI/SNF-RELATED, MATRIX-ASSOCIATED ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

612763 TRANSCRIPTIONAL ADAPTOR 1-LIKE; TADA1L

612764 ISY1 SPLICING FACTOR, S. CEREVISIAE, HOMOLOG OF; ISY1

612765 SFI1, YEAST, HOMOLOG OF; SFI1

Changed Entries:

103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

131195 ENDOGLIN; ENG

139320 GNAS COMPLEX LOCUS; GNAS

150400 TOOTH AGENESIS, SELECTIVE, 4; STHAG4

151442 STATHMIN 1; STMN1

151670 LIPASE, HEPATIC; LIPC

152430 LONGEVITY

160980 CARNEY COMPLEX, TYPE 1; CNC1

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

188550 THYROID CARCINOMA, PAPILLARY

201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

277730 WERNICKE-KORSAKOFF SYNDROME

300770 PULMONARY ALVEOLAR PROTEINOSIS DUE TO CSF2RA DEFICIENCY

602353 TRANSFORMING GROWTH FACTOR, BETA-1-INDUCED 1; TGFB1I1

602752 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 8; RGPD8

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B

603295 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 9; SMAD9

605072 GAIP C-TERMINUS-INTERACTING PROTEIN 1; GIPC1

605861 CANOPY 2, ZEBRAFISH, HOMOLOG OF; CNPY2

606107 CHOLINE TRANSPORTER-LIKE PROTEIN 4

606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4

607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11

607418 GRIP AND COILED-COIL DOMAINS-CONTAINING PROTEIN 1; GCC1

610070 ASTER-ASSOCIATED PROTEIN

611143 COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98

612704 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 1; RGPD1

612705 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 2; RGPD2

612706 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 3; RGPD3

612707 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 4; RGPD4

612708 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 5; RGPD5

612709 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 6; RGPD6

612710 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 7; RGPD7

612711 GRIP AND COILED-COIL DOMAINS-CONTAINING PROTEIN 2; GCC2

612757 GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING

April 23, 2009

New Entries:

612749 SPERM ACROSOME-ASSOCIATED 3; SPACA3

612755 MITOCHONDRIAL DISTRIBUTION AND MORPHOLOGY 20, YEAST, HOMOLOG OF

612756 TESTICULAR CELL ADHESION MOLECULE 1; TCAM1

612757 GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING

612758 TRANSMEMBRANE ANTERIOR POSTERIOR TRANSFORMATION 1; TAPT1

Changed Entries:

102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1

107748 APEX NUCLEASE 1; APEX1

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

112266 BONE MORPHOGENETIC PROTEIN 6; BMP6

139250 GROWTH HORMONE 1; GH1

180300 RHEUMATOID ARTHRITIS; RA

189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB

229050 FOLATE MALABSORPTION, HEREDITARY

300772 TRANSCRIPTION FACTOR DP FAMILY, MEMBER 3; TFDP3

605120 GROWTH/DIFFERENTIATION FACTOR 2; GDF2

605523 TRANSDUCER OF ERBB2, 1; TOB1

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

608374 HEMOJUVELIN

610833 N-ACETYLTRANSFERASE 5; NAT5

611672 SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1

Clinical Synopsis for 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

April 22, 2009

New Entries:

300772 TRANSCRIPTION FACTOR DP FAMILY, MEMBER 3; TFDP3

612747 TUFTELIN-INTERACTING PROTEIN 11; TFIP11

612748 LYSOZYME-LIKE 2; LYZL2

612750 LYSOZYME-LIKE 4; LYZL4

612751 LYSOZYME-LIKE 6; LYZL6

612752 CXXC FINGER PROTEIN 5; CXXC5

612753 COLLAGEN AND CALCIUM-BINDING EGF DOMAIN-CONTAINING PROTEIN 1; CCBE1

612754 GLUTAREDOXIN 3; GLRX3

Changed Entries:

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

187430 CYSTEINE-RICH SECRETORY PROTEIN 2; CRISP2

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

261640 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

600396 DEAD/H BOX 8; DDX8

600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12

604158 SECRETED FRIZZLED-RELATED PROTEIN 5; SFRP5

606247 STAM-BINDING PROTEIN; STAMBP

607262 EPSIN 1; EPN1

610141 QT INTERVAL, VARIATION IN

610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19

610308 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL

610858 CHROMOSOME 14 OPEN READING FRAME 166; C14ORF166

611731 APC GENE

611965 THO COMPLEX, SUBUNIT 7; THOC7

612142 MICRO RNA LET7A2; MIRLET7A2

612144 MICRO RNA LET7C; MIRLET7C

612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1

612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

April 21, 2009

New Entries:

300771 TRANSCRIPTION ELONGATION FACTOR A-LIKE 7; TCEAL7

612738 SOLUTE CARRIER FAMILY 9, MEMBER 10; SLC9A10

612739 SPERM ACROSOME-ASSOCIATED 1; SPACA1

612741 SNAIL, DROSOPHILA, HOMOLOG OF, 3; SNAI3

612742 MICRO RNA 181A1; MIR181A1

612743 MICRO RNA 181A2; MIR181A2

612744 MICRO RNA 181B1; MIR181B1

612745 MICRO RNA 181B2; MIR181B2

612746 MICRO RNA 181C; MIR181C

Changed Entries:

107310 SOLUTE CARRIER FAMILY 9, MEMBER 1; SLC9A1

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL

147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1

158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2

182307 SOLUTE CARRIER FAMILY 9, MEMBER 3; SLC9A3

275450 TRICHOODONTOONYCHIAL DYSPLASIA

300231 SOLUTE CARRIER FAMILY 9, MEMBER 6; SLC9A6

300368 SOLUTE CARRIER FAMILY 9, MEMBER 7; SLC9A7

600477 SOLUTE CARRIER FAMILY 9, MEMBER 5; SLC9A5

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600530 SOLUTE CARRIER FAMILY 9, MEMBER 2; SLC9A2

600531 SOLUTE CARRIER FAMILY 9, MEMBER 4; SLC9A4

601653 EYES ABSENT 1; EYA1

601772 H2A HISTONE FAMILY, MEMBER X; H2AFX

604990 SOLUTE CARRIER FAMILY 9, MEMBER 3, REGULATOR 1; SLC9A3R1

606553 SOLUTE CARRIER FAMILY 9, MEMBER 3, REGULATOR 2; SLC9A3R2

607108 PAIRED BOX GENE 6; PAX6

607688 PARKINSON DISEASE 11; PARK11

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

608396 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 9; SLC9A9

609708 LIPOPROTEIN LIPASE; LPL

610104 MICRO RNA 125B1; MIR125B1

610105 MICRO RNA 125B2; MIR125B2

610175 MICRO RNA 130A; MIR130A

611020 MICRO RNA 21; MIR21

611187 MICRO RNA 9-2; MIR9-2

611576 MICRO RNA 10B; MIR10B

611774 MICRO RNA 128-1; MIR128-1

612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2

612150 MICRO RNA 25; MIR25

April 20, 2009

New Entries:

612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

612737 STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17

Changed Entries:

123450 CRI-DU-CHAT SYNDROME

128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

138130 GLUTAMATE DEHYDROGENASE 1; GLUD1

147670 INSULIN RECEPTOR; INSR

154750 MARFANOID HYPERMOBILITY SYNDROME

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

176970 PROTEIN KINASE C, BETA-1; PRKCB1

190120 THYROID HORMONE RECEPTOR, ALPHA-1; THRA

190160 THYROID HORMONE RECEPTOR, BETA; THRB

219150 CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION

229050 FOLATE MALABSORPTION, HEREDITARY

235730 MOWAT-WILSON SYNDROME

248510 MANNOSIDOSIS, BETA A, LYSOSOMAL

258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY

265450 PULMONARY VENOOCCLUSIVE DISEASE; PVOD

300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),

300065 CENTROMERIC PROTEIN I; CENPI

300352 CREATINE DEFICIENCY SYNDROME, X-LINKED

600560 SHC TRANSFORMING PROTEIN; SHC1

600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE

600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2

601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1

601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT

602645 SEMAPHORIN 3C; SEMA3C

602731 FYN-BINDING PROTEIN; FYB

604896 MKKS GENE; MKKS

605204 TORSIN-A; DYT1

606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2

606246 JUXTAPOSED WITH ANOTHER ZINC FINGER GENE 1; JAZF1

606255 STATURE AS A QUANTITATIVE TRAIT

606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

606869 HEXOSAMINIDASE A; HEXA

607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12

607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11

607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP

608044 SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8

608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL

609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA

610236 LUNAPARK

611025 CHROMOSOME 10 OPEN READING FRAME 63; C10ORF63

611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9

611672 SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1

612166 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 2; SLC39A2

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

612455 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 12;

612715 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 2; DUH2

612718 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

612737 STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17

Clinical Synopsis for 204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE

Clinical Synopsis for 253250 MULIBREY NANISM

Clinical Synopsis for 608454 KNOBLOCH SYNDROME, TYPE II

April 17, 2009

New Entries:

612713 KAHRIZI SYNDROME

612715 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 2; DUH2

612735 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-3; HLA-DRB3

Changed Entries:

103050 ADENYLOSUCCINASE DEFICIENCY

116898 CCAAT/ENHANCER-BINDING PROTEIN, DELTA; CEBPD

121300 COPROPORPHYRIA, HEREDITARY; HCP

127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1

137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER

142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA

181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1

187680 THIOPURINE S-METHYLTRANSFERASE; TPMT

188580 THYROTOXIC PERIODIC PARALYSIS

212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A

214350 CHANDS

222700 LYSINURIC PROTEIN INTOLERANCE; LPI

233100 RENAL GLUCOSURIA; GLYS1

275000 GRAVES DISEASE

276901 USHER SYNDROME, TYPE IIA; USH2A

300170 CHROMOSOME X OPEN READING FRAME 5; CXORF5

300357 CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2

304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED;

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

311200 OROFACIODIGITAL SYNDROME I; OFD1

600438 TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM

601203 INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

602117 NECDIN; NDN

603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM),

606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24

607003 THYMIC STROMAL LYMPHOPOIETIN; TSLP

607239 DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33

607571 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL OXODICARBOXYLATE CARRIER),

607982 SCY1-LIKE 1; SCYL1

608222 ADENYLOSUCCINATE LYASE; ADSL

608400 USH2A GENE; USH2A

608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

608678 INTERLEUKIN 33; IL33

612732 COPROPORPHYRINOGEN OXIDASE; CPOX

Clinical Synopsis for 212750 CELIAC DISEASE; CD

April 16, 2009

New Entries:

612731 FACIOCARDIOMELIC SYNDROME

612732 COPROPORPHYRINOGEN OXIDASE; CPOX

612733 THO COMPLEX 5; THOC5

612734 TLX1 DIVERGENT GENE

Clinical Synopsis for 609285 NEMALINE MYOPATHY 4; NEM4

Clinical Synopsis for 612513 CHROMOSOME 2p16.1-p15 DELETION SYNDROME

Clinical Synopsis for 612626 CHROMOSOME 15q26-qter DELETION SYNDROME

Clinical Synopsis for 612652 MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR

Clinical Synopsis for 612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;

Changed Entries:

100300 ADAMS-OLIVER SYNDROME; AOS

100800 ACHONDROPLASIA; ACH

121300 COPROPORPHYRIA, HEREDITARY; HCP

125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD

126452 DOPAMINE RECEPTOR D4; DRD4

126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),

128230 DYSTONIA, DOPA-RESPONSIVE; DRD

132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS

134797 FIBRILLIN 1; FBN1

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1

140600 OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2

142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1

150330 LAMIN A/C; LMNA

150600 LEGG-CALVE-PERTHES DISEASE

151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT

154230 SEX REVERSAL, AUTOSOMAL, 2; SRA2

164210 HEMIFACIAL MICROSOMIA; HFM

164950 FIBROBLAST GROWTH FACTOR 3; FGF3

165720 OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1

173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB

176100 PORPHYRIA CUTANEA TARDA

186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1

208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS

215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED

219000 FRASER SYNDROME

230600 GM1-GANGLIOSIDOSIS, TYPE II

233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

238320 LEYDIG CELL HYPOPLASIA, TYPE I

253250 MULIBREY NANISM

263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC

268000 RETINITIS PIGMENTOSA; RP

271700 SPONDYLOPERIPHERAL DYSPLASIA

300039 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4

300141 MOVED TO 612725

308100 ICHTHYOSIS, X-LINKED; XLI

600225 GTP CYCLOHYDROLASE I; GCH1

600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS

600618 ETS VARIANT GENE 6; ETV6

601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA

602483 AURICULOCONDYLAR SYNDROME

602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7

604232 LEBER CONGENITAL AMAUROSIS 3; LCA3

604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA

605027 LYMPHOMA, NON-HODGKIN, FAMILIAL

606025 ZINC FINGER PROTEIN 288; ZNF288

607343 SAL-LIKE 4; SALL4

607850 OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3

608765 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3

608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY

609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH

609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR

610623 CATARACT, POSTERIOR POLAR, 4; CTPP4

610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA

610984 COMPLEMENT FACTOR I DEFICIENCY

612401 OSTEOARTHRITIS SUSCEPTIBILITY 6; OS6

612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO

612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

612719 6-@PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS

612725 PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C

612732 COPROPORPHYRINOGEN OXIDASE; CPOX

Clinical Synopsis for 103050 ADENYLOSUCCINASE DEFICIENCY

Clinical Synopsis for 153550 CHROMOSOME 5q DELETION SYNDROME

Clinical Synopsis for 182410 SNEDDON SYNDROME

Clinical Synopsis for 184850 STIFF-PERSON SYNDROME; SPS

Clinical Synopsis for 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

Clinical Synopsis for 255995 NATIVE AMERICAN MYOPATHY

Clinical Synopsis for 260300 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE; PARK15

Clinical Synopsis for 610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA

Clinical Synopsis for 612513 CHROMOSOME 2p16.1-p15 DELETION SYNDROME

April 15, 2009

New Entries:

612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

612719 6-@PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS

Changed Entries:

104300 ALZHEIMER DISEASE; AD

108961 NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B; NPR2

115501 TYROSINASE-RELATED PROTEIN 1; TYRP1

116806 CATENIN, BETA-1; CTNNB1

126090 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 1; PCBD1

128230 DYSTONIA, DOPA-RESPONSIVE; DRD

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

158340 MUCIN 1, TRANSMEMBRANE; MUC1

168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

176940 S100 CALCIUM-BINDING PROTEIN A1; S100A1

182125 SEPIAPTERIN REDUCTASE; SPR

182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A

191100 TUBEROUS SCLEROSIS; TS

194070 WILMS TUMOR 1; WT1

203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2

204000 LEBER CONGENITAL AMAUROSIS 1; LCA1

233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

250250 CARTILAGE-HAIR HYPOPLASIA; CHH

261600 PHENYLKETONURIA; PKU

261630 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

261640 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

264070 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D

268000 RETINITIS PIGMENTOSA; RP

269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

600225 GTP CYCLOHYDROLASE I; GCH1

600274 FRONTOTEMPORAL DEMENTIA; FTD

600364 GUANYLATE CYCLASE ACTIVATOR 1A; GUCA1A

600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601665 OBESITY

602054 T-BOX 1; TBX1

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

603168 UNC51-LIKE KINASE 1; ULK1

603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3

603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A

604232 LEBER CONGENITAL AMAUROSIS 3; LCA3

605284 TSC1 GENE; TSC1

606873 HEXOSAMINIDASE B; HEXB

607102 WT1 GENE; WT1

608419 METHYLMALONYL-CoA EPIMERASE; MCEE

608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B

608637 SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED

608777 PERIOSTIN; POSTN

609868 SPERMATOGENESIS-ASSOCIATED PROTEIN 7; SPATA7

612676 QUINOID DIHYDROPTERIDINE REDUCTASE; QDPR

612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

612718 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

April 14, 2009

New Entries:

612718 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

612724 ALDOLASE B, FRUCTOSE-BISPHOSPHATE; ALDOB

612727 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 13; BMND13

612728 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 14; BMND14

612729 LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1; LBMQTL1

612730 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 8; SLC9A8

Changed Entries:

103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA

103870 ALDOLASE C, FRUCTOSE-BISPHOSPHATE; ALDOC

113705 BREAST CANCER 1 GENE; BRCA1

142410 HNF1 HOMEOBOX A; HNF1A

147720 INTERLEUKIN 1-BETA; IL1B

150550 LAZY LEUKOCYTE SYNDROME

158340 MUCIN 1, TRANSMEMBRANE; MUC1

166800 OTOSCLEROSIS; OTSC1

188545 THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR

190930 TROPOMODULIN; TMOD

208400 ASPARTYLGLUCOSAMINURIA

229600 FRUCTOSE INTOLERANCE, HEREDITARY

256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1

300377 DYSTROPHIN; DMD

300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

600514 REELIN; RELN

600742 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE III; TGFBR3

601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1

601974 SPHINGOSINE 1-PHOSPHATE RECEPTOR 1; S1PR1

602360 L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM

602938 BILE ACID CoA:AMINO ACID N-ACYLTRANSFERASE; BAAT

603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6

603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1

607512 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

608395 KARAK SYNDROME

610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2; NBIA2

611153 XPA GENE; XPA

612729 LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1; LBMQTL1

April 13, 2009

Changed Entries:

102681 ADDUCIN 2; ADD2

116955 ZINC FINGER PROTEIN 9; ZNF9

118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4

118920 CHROMOGRANIN B; CHGB

120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2

125305 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.9; EPB49

134797 FIBRILLIN 1; FBN1

187430 CYSTEINE-RICH SECRETORY PROTEIN 2; CRISP2

244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1

255600 MYOSCLEROSIS, AUTOSOMAL RECESSIVE

300322 LESCH-NYHAN SYNDROME; LNS

300613 MYOPIA 13; MYP13

300746 COAGULATION FACTOR IX; F9

300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA

301500 FABRY DISEASE

304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED

307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT

535000 LEBER OPTIC ATROPHY

540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE

590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1

600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,

601193 CYSTEINE-RICH SECRETORY PROTEIN 1; CRISP1

601218 ADENOSINE DEAMINASE, RNA-SPECIFIC, B1; ADARB1

601266 dUTP PYROPHOSPHATASE; DUT

601292 SULFOTRANSFERASE FAMILY 1A, PHENOL-PREFERRING, MEMBER 2; SULT1A2

601328 SODIUM CHANNEL, NONVOLTAGE-GATED 1, DELTA SUBUNIT; SCNN1D

601417 17-@BETA-HYDROXYSTEROID DEHYDROGENASE VIII; HSD17B8

601482 DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1

601513 FIBROBLAST GROWTH FACTOR 12; FGF12

601559 STUVE-WIEDEMANN SYNDROME

601568 ADDUCIN 3; ADD3

601642 INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

602668 DYSTROPHIA MYOTONICA 2; DM2

603165 DERMATITIS, ATOPIC

604369 SIALURIA, FINNISH TYPE

605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

606463 GLUCOSIDASE, BETA, ACID; GBA

606904 EPILEPSY, JUVENILE MYOCLONIC; JME

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

608474 MYOPIA 5; MYP5

609256 MYOPIA 7; MYP7

609257 MYOPIA 8; MYP8

609258 MYOPIA 9; MYP9

609259 MYOPIA 10; MYP10

609806 HYDROXYMETHYLBILANE SYNTHASE; HMBS

609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION;

609994 MYOPIA 11; MYP11

609995 MYOPIA 12; MYP12

610251 ALCOHOL SENSITIVITY, ACUTE

610320 MYOPIA 14; MYP14

612219 EWING SARCOMA; ES

612304 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL

612650 CILIARY DYSKINESIA, PRIMARY, 12; CILD12

Clinical Synopsis for 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY

April 10, 2009

New Entries:

612725 PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C

Changed Entries:

100600 ACANTHOSIS NIGRICANS

102680 ADDUCIN 1; ADD1

113705 BREAST CANCER 1 GENE; BRCA1

125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

126060 DIHYDROFOLATE REDUCTASE; DHFR

137800 GLIOMA OF BRAIN, FAMILIAL

138945 GRANULIN PRECURSOR; GRN

152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR

160700 MYOPIA 2; MYP2

163729 NITRIC OXIDE SYNTHASE 3; NOS3

238320 LEYDIG CELL HYPOPLASIA, TYPE I

260350 PANCREATIC CARCINOMA

268800 SANDHOFF DISEASE

270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS

300141 MOVED TO 612725

300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

300624 FRAGILE X MENTAL RETARDATION SYNDROME

309550 FMR1 GENE; FMR1

400012 VARIABLY CHARGED, Y CHROMOSOME; VCY

400013 BASIC PROTEIN, Y CHROMOSOME, 2; BPY2

600274 FRONTOTEMPORAL DEMENTIA; FTD

600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3

601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

601821 RNA, Y1 SMALL CYTOPLASMIC; RNY1

601822 RNA, Y3 SMALL CYTOPLASMIC; RNY3

601823 RNA, Y4 SMALL CYTOPLASMIC; RNY4

601824 RNA, Y5 SMALL CYTOPLASMIC; RNY5

602083 USHER SYNDROME, TYPE IF; USH1F

602360 L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM

604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

605154 RECEPTOR ACTIVITY-MODIFYING PROTEIN 2; RAMP2

605155 RECEPTOR ACTIVITY-MODIFYING PROTEIN 3; RAMP3

605235 NUCLEOLAR PROTEIN 3; NOL3

605514 PROTOCADHERIN 15; PCDH15

605995 KINESIN FAMILY MEMBER 1B; KIF1B

606322 CYTOPLASMIC FMRP-INTERACTING PROTEIN 1; CYFIP1

606323 CYTOPLASMIC FMRP-INTERACTING PROTEIN 2; CYFIP2

606873 HEXOSAMINIDASE B; HEXB

607060 PARKINSON DISEASE 8; PARK8

607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP

607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;

608367 MYOPIA 4; MYP4

608908 MYOPIA 6; MYP6

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

610844 SPG11 GENE; SPG11

610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7

611124 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8; MFSD8

Clinical Synopsis for 218040 COSTELLO SYNDROME

April 9, 2009

New Entries:

612691 POLYMICROGYRIA, BILATERAL OCCIPITAL

Clinical Synopsis for 612717 MYOPIA 15; MYP15

Changed Entries:

108370 ASPARAGINE SYNTHETASE; ASNS

114480 BREAST CANCER

140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1

141250 HEME OXYGENASE 1; HMOX1

152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR

167400 PAROXYSMAL EXTREME PAIN DISORDER

176410 PRECOCIOUS PUBERTY, MALE-LIMITED

176640 PRION PROTEIN; PRNP

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

194050 WILLIAMS-BEUREN SYNDROME; WBS

204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY

212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A

219700 CYSTIC FIBROSIS; CF

222700 LYSINURIC PROTEIN INTOLERANCE; LPI

223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL

226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB

226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA

230600 GM1-GANGLIOSIDOSIS, TYPE II

230650 GM1-GANGLIOSIDOSIS, TYPE III

236200 HOMOCYSTINURIA

238320 LEYDIG CELL HYPOPLASIA, TYPE I

243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL

252010 MITOCHONDRIAL COMPLEX I DEFICIENCY

253250 MULIBREY NANISM

253260 BIOTINIDASE DEFICIENCY

253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL

261600 PHENYLKETONURIA; PKU

300624 FRAGILE X MENTAL RETARDATION SYNDROME

300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

300746 COAGULATION FACTOR IX; F9

301300 DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2

302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

306900 HEMOPHILIA B; HEMB

600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2

600599 KRUPPEL-LIKE FACTOR 1; KLF1

600641 SULFOTRANSFERASE FAMILY 1A, PHENOL-PREFERRING, MEMBER 3; SULT1A3

600999 MYC-ASSOCIATED ZINC FINGER PROTEIN; MAZ

601723 FRIZZLED, DROSOPHILA, HOMOLOG OF, 5; FZD5

601742 TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28

601953 CYCLIN H; CCNH

604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4

605797 ANKYRIN REPEAT, SAM, AND BASIC LEUCINE ZIPPER DOMAIN-CONTAINING 1;

607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1

612638 NADH-DEHYDROGENASE 1 ALPHA SUBCOMPLEX, 11; NDUFA11

612717 MYOPIA 15; MYP15

April 8, 2009

New Entries:

612714 EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL

612722 ELONGATION PROTEIN 3, S. CEREVISIAE, HOMOLOG OF; ELP3

612723 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY H, MEMBER 2;

Changed Entries:

102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT

118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

119530 OROFACIAL CLEFT 1; OFC1

123400 CREUTZFELDT-JAKOB DISEASE; CJD

123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1

136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR

139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

143100 HUNTINGTON DISEASE; HD

147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

147450 SUPEROXIDE DISMUTASE 1; SOD1

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176000 PORPHYRIA, ACUTE INTERMITTENT

176860 THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL

177075 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG; MAF

179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

185250 MATRIX METALLOPROTEINASE 3; MMP3

186700 SYRINGOMYELIA, ISOLATED

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

300292 FORKHEAD BOX P3; FOXP3

300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2

310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

600011 EPHRIN RECEPTOR EphB4; EPHB4

600154 PHOSPHATIDYLINOSITOL GLYCAN, CLASS H; PIGH

600250 CHEMOKINE, C MOTIF, LIGAND 1; XCL1

600473 PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA

600625 OROFACIAL CLEFT 11; OFC11

600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A

601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A

603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2

603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20

603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE

605855 ATPase, CLASS V, TYPE 10A; ATP10A

607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7

607976 CYTOCHROME c OXIDASE, SUBUNIT IV, ISOFORM 2; COX4I2

609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY

609241 SCHINDLER DISEASE, TYPE I

609442 VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO

609536 COMPLEMENT COMPONENT 5 DEFICIENCY

610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3

611162 MALARIA, SUSCEPTIBILITY TO

612192 ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF; ZFP57

612356 HEPARIN COFACTOR II DEFICIENCY

612358 KININOGEN 1; KNG1

612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO

April 7, 2009

New Entries:

612717 MYOPIA 15; MYP15

612720 DEAH BOX POLYPEPTIDE 29; DHX29

612721 REGULATED ENDOCRINE-SPECIFIC PROTEIN 18

Changed Entries:

104150 ALPHA-FETOPROTEIN; AFP

127750 DEMENTIA, LEWY BODY; DLB

147820 INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF

159900 MYOCLONIC DYSTONIA

160700 MYOPIA 2; MYP2

163890 SYNUCLEIN, ALPHA; SNCA

168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1

175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;

180860 SILVER-RUSSELL SYNDROME; SRS

188450 THYROGLOBULIN; TG

275350 TRANSCOBALAMIN II DEFICIENCY

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

600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6

600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3

600928 CONSERVED GENE TELOMERIC TO ALPHA GLOBIN CLUSTER

601023 VALOSIN-CONTAINING PROTEIN; VCP

601089 FORKHEAD BOX F1; FOXF1

601384 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS E; LY6E

603252 FORKHEAD BOX L1; FOXL1

603625 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS H; LY6H

605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4

606008 NATURAL KILLER CELL GROUP 7 SEQUENCE; NKG7

606038 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6D; LY6G6D

606137 CELL GROWTH REGULATOR WITH EF-HAND DOMAIN 1; CGREF1

606138 CELL GROWTH REGULATOR WITH RING FINGER DOMAIN 1; CGRRF1

606204 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS D; LY6D

606466 PML-RARA TARGET GENE ENCODING AN ADAPTOR MOLECULE 1; PRAM1

607054 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 3; PHLDA3

607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M

612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12

612712 LEBER CONGENITAL AMAUROSIS 13; LCA13

April 6, 2009

Changed Entries:

115150 CARDIOFACIOCUTANEOUS SYNDROME

123400 CREUTZFELDT-JAKOB DISEASE; CJD

130130 ELASTASE 2; ELA2

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

188450 THYROGLOBULIN; TG

202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1

222600 DIASTROPHIC DYSPLASIA

229300 FRIEDREICH ATAXIA 1; FRDA

256050 ATELOSTEOGENESIS, TYPE II; AOII

276000 PROTEASE, SERINE, 1; PRSS1

300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED

300648 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A1; CT45A1

314690 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C

601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1

602888 BETAINE-HOMOCYSTEINE METHYLTRANSFERASE; BHMT

604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1

605932 BETAINE-HOMOCYSTEINE METHYLTRANSFERASE 2; BHMT2

605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1

606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

606829 FRATAXIN; FXN

609185 ZINC FINGER AND HOMEODOMAIN PROTEIN 2; ZHX2

610447 SHADOW OF PRION PROTEIN; SPRN

610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3

612560 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12

April 3, 2009

New Entries:

612704 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 1; RGPD1

612705 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 2; RGPD2

612706 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 3; RGPD3

612707 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 4; RGPD4

612708 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 5; RGPD5

612709 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 6; RGPD6

612710 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 7; RGPD7

612711 GRIP AND COILED-COIL DOMAINS-CONTAINING PROTEIN 2; GCC2

612712 LEBER CONGENITAL AMAUROSIS 13; LCA13

Changed Entries:

108355 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

146690 IMP DEHYDROGENASE 1; IMPDH1

176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1

180040 RETINAL DEGENERATION 3, MOUSE, HOMOLOG OF; RD3

180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65

190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2

204000 LEBER CONGENITAL AMAUROSIS 1; LCA1

204100 LEBER CONGENITAL AMAUROSIS 2; LCA2

268000 RETINITIS PIGMENTOSA; RP

300292 FORKHEAD BOX P3; FOXP3

600065 INTEGRIN, BETA-2; ITGB2

600084 MACROCYTOSIS, FAMILIAL

600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V

600447 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 12; MAP3K12

600505 CASEIN KINASE I, ALPHA-1; CSNK1A1

600725 SONIC HEDGEHOG; SHH

601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

601471 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP1

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601808 CHROMOSOME 18q DELETION SYNDROME

601900 INTERFERON REGULATORY FACTOR 4; IRF4

602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG

602079 TRIMETHYLAMINURIA; TMAU

602080 PAGET DISEASE OF BONE; PDB

602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX

602353 TRANSFORMING GROWTH FACTOR, BETA-1-INDUCED 1; TGFB1I1

602357 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 1; WIPF1

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602752 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 8; RGPD8

602942 ECOTROPIC VIRAL INTEGRATION SITE 5; EVI5

603149 INTERLEUKIN 17A; IL17A

603174 HOMOCYSTEINEMIA

603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5

603554 OMENN SYNDROME

604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4

604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1

604221 ACTIN-RELATED PROTEIN 2; ACTR2

604222 ACTIN-RELATED PROTEIN 3; ACTR3

604232 LEBER CONGENITAL AMAUROSIS 3; LCA3

604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT

604312 CYSTATIN 3; CST3

604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1

604393 LEBER CONGENITAL AMAUROSIS 4; LCA4

604537 LEBER CONGENITAL AMAUROSIS 5; LCA5

605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL

605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1

606054 PROPIONIC ACIDEMIA

606158 BSCL2 GENE; BSCL2

606348 INFLAMMATORY BOWEL DISEASE 5; IBD5

606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY

606658 SPINOCEREBELLAR ATAXIA 15; SCA15

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

607014 HURLER SYNDROME

607015 HURLER-SCHEIE SYNDROME

607016 SCHEIE SYNDROME

607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA

607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1

607181 RECEPTOR-TRANSPORTING PROTEIN 3; RTP3

607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11

607418 GRIP AND COILED-COIL DOMAINS-CONTAINING PROTEIN 1; GCC1

608537 VHL GENE; VHL

608553 LEBER CONGENITAL AMAUROSIS 9; LCA9

608830 RETINOL DEHYDROGENASE 12; RDH12

608902 DRUG METABOLISM, POOR, CYP2D6-RELATED

608958 ADENOSINE DEAMINASE; ADA

609137 RECEPTOR-TRANSPORTING PROTEIN 1; RTP1

609138 RECEPTOR-TRANSPORTING PROTEIN 2; RTP2

609350 RECEPTOR-TRANSPORTING PROTEIN 4; RTP4

610062 DYNEIN, AXONEMAL, LIGHT CHAIN 1; DNAL1

610142 CENTROSOMAL PROTEIN, 290-KD; CEP290

610612 LEBER CONGENITAL AMAUROSIS 12; LCA12

611007 MEX3, C. ELEGANS, HOMOLOG OF, A; MEX3A

611008 MEX3, C. ELEGANS, HOMOLOG OF, B; MEX3B

611009 MEX3, C. ELEGANS, HOMOLOG OF, D; MEX3D

611050 LEUCINE ZIPPER PROTEIN 6; LUZP6

611074 BRAIN-SPECIFIC HOMEOBOX, MOUSE, HOMOLOG OF; BSX

611137 PROTEASOME SUBUNIT, BETA-TYPE, 11; PSMB11

611144 FAMILY WITH SEQUENCE SIMILARITY 175, MEMBER B; FAM175B

611151 tRNA METHYLTRANSFERASE 2, S. CEREVISIAE, HOMOLOG OF, A; TRMT2A

611156 ENDOPLASMIC RETICULUM METALLOPEPTIDASE 1; ERMP1

611408 LCA5 GENE; LCA5

611755 LEBER CONGENITAL AMAUROSIS 10; LCA10

612709 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 6; RGPD6

612712 LEBER CONGENITAL AMAUROSIS 13; LCA13

April 2, 2009

New Entries:

612703 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7; MCPH7

Changed Entries:

114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A

121300 COPROPORPHYRIA, HEREDITARY; HCP

127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA

139220 REMOVED FROM DATABASE

139230 REMOVED FROM DATABASE

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147490 REMOVED FROM DATABASE

148600 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; KPPP

156225 LAMININ, ALPHA-2; LAMA2

168820 PARAOXONASE 1; PON1

180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1

181590 SCL/TAL1-INTERRUPTING LOCUS; STIL

217080 JALILI SYNDROME

217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM

218330 CRANIOECTODERMAL DYSPLASIA

225100 ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE

246700 CHYLOMICRON RETENTION DISEASE; CMRD

251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1

270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL; DIAR3

300105 SPERMINE SYNTHASE; SMS

300422 FG SYNDROME 4; FGS4

300768 CYLICIN 1; CYLC1

300769 MICRO RNA 224; MIR224

309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

601332 MOHAWK HOMEOBOX; MKX

601464 LYMPHOID NUCLEAR PROTEIN RELATED TO AF4; LAF4

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

604035 CYLICIN 2; CYLC2

604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1

604804 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3

605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE

605861 CANOPY 2, ZEBRAFISH, HOMOLOG OF; CNPY2

606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A

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

607235 MAS1 ONCOGENE-LIKE; MAS1L

607689 MOVED TO 246700

607690 SAR1, S. CEREVISIAE, HOMOLOG B; SAR1B

607691 SAR1, S. CEREVISIAE, HOMOLOG A; SAR1A

607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

608129 UBIQUITIN-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1; UBAC1

608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6

608553 LEBER CONGENITAL AMAUROSIS, TYPE IX

608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5

609624 MITOCHONDRIAL COILED-COIL DOMAIN 1; MCCD1

610047 CANOPY 4, ZEBRAFISH, HOMOLOG OF; CNPY4

610640 YTH DOMAIN FAMILY MEMBER 2; YTHDF2

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

610774 CANOPY 3, ZEBRAFISH, HOMOLOG OF; CNPY3

611943 RIDDLE SYNDROME

612656 EPISODIC ATAXIA, TYPE 6; EA6

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

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

612672 RAS-ASSOCIATED PROTEIN RAB10; RAB10

612673 RAS-ASSOCIATED PROTEIN RAB14; RAB14

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

612675 SMALL CAJAL BODY-SPECIFIC RNA 15; SCARNA15

612676 QUINOID DIHYDROPTERIDINE REDUCTASE; QDPR

612678 TRINUCLEOTIDE REPEAT-CONTAINING GENE 4; TNRC4

612679 BRUNO-LIKE 4; BRUNOL4

612680 BRUNO-LIKE 5; BRUNOL5

612681 BRUNO-LIKE 6; BRUNOL6

612683 TEKTIN 3; TEKT3

612684 ISTHMIN 2, ZEBRAFISH, HOMOLOG OF; ISM2

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

612687 RGM DOMAIN FAMILY, MEMBER B; RGMB

612688 RING FINGER PROTEIN 168; RNF168

612689 TIGHT JUNCTION PROTEIN 3; TJP3

612690 SPHEROCYTOSIS, TYPE 5; SPH5

612692 IMMUNODEFICIENCY, HYPOGAMMAGLOBULINEMIA, AND REDUCED B CELLS

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

612694 ATP-BINDING DOMAIN PROTEIN 3; ATPBD3

612695 VAULT RNA 1-1; VTRNA1-1

612696 VAULT RNA 1-2; VTRNA1-2

612697 VAULT RNA 1-3; VTRNA1-3

612698 MICRO RNA 187; MIR187

612699 RIMS-BINDING PROTEIN 3; RIMBP3

612700 RIMS-BINDING PROTEIN 3B; RIMBP3B

612701 RIMS-BINDING PROTEIN 3C; RIMBP3C

612702 KALLMANN SYNDROME 6; KAL6

April 1, 2009

Changed Entries:

107400 PROTEASE INHIBITOR 1; PI

108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA

115080 CARDIAC CONDUCTION DEFECT

165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT

165500 OPTIC ATROPHY 1; OPA1

180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1

190195 TRANSGLUTAMINASE 1; TGM1

204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

236200 HOMOCYSTINURIA

242300 ICHTHYOSIS, LAMELLAR, 1; LI1

253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B

254130 MIYOSHI MYOPATHY; MM

258100 OGUCHI DISEASE 1

261630 DIHYDROPTERIDINE REDUCTASE DEFICIENCY

268000 RETINITIS PIGMENTOSA; RP

278000 WOLMAN DISEASE

535000 LEBER OPTIC ATROPHY

600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB

602365 CATHEPSIN C; CTSC

603009 DYSFERLIN; DYSF

603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE

604229 PETERS ANOMALY

604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1

605290 OPA1 GENE; OPA1

605526 ALZHEIMER DISEASE 6

606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

609884 TRANSMEMBRANE PROTEIN 67; TMEM67

612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1