PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for April, 2006

April 28, 2006

Changed Entries:

104240 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 4; ST3GAL4

109675 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GAL1

167030 NEPHROLITHIASIS, CALCIUM OXALATE

604402 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 5; ST3GAL5

606378 (ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3)-N-ACETYLGALACTOSAMINIDE

606494 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3; ST3GAL3

607156 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 6; ST3GAL6

607187 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 1; ST3GAL1

607188 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 2; ST3GAL2

608472 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 2; ST6GAL2

610068 SOLUTE CARRIER FAMILY 26 (ANION TRANSPORTER), MEMBER 6: SLC26A6

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

April 27, 2006

New Entries:

300590 CORNELIA DE LANGE SYNDROME, X-LINKED

610087 PROTEIN ARGININE N-METHYLTRANSFERASE 7; PRMT7

610088 OLFACTOMEDIN-LIKE 3; OLFML3

610089 RAD50-INTERACTING PROTEIN 1; RINT1

Clinical Synopsis for 610024 RETINAL CONE DYSTROPHY 3; RCD3

Changed Entries:

102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1

122470 CORNELIA DE LANGE SYNDROME; CDLS

135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP

135900 COFFIN-SIRIS SYNDROME

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

147670 INSULIN RECEPTOR; INSR

176730 INSULIN; INS

180203 RETINOBLASTOMA-LIKE 2; RBL2

275000 GRAVES DISEASE

300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1; SMC1L1

600577 LIM HOMEOBOX GENE 3; LHX3

601961 PROTEIN ARGININE N-METHYLTRANSFERASE 2; PRMT2

602950 PROTEIN ARGININE N-METHYLTRANSFERASE 1; PRMT1

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603190 PROTEIN ARGININE N-METHYLTRANSFERASE 3; PRMT3

603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1; CARM1

604045 PROTEIN ARGININE N-METHYLTRANSFERASE 5; PRMT5

605213 3-@PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1

607871 F-BOX ONLY PROTEIN 11; FBXO11

608274 PROTEIN ARGININE N-METHYLTRANSFERASE 6; PRMT6

610086 PROTEIN ARGININE N-METHYLTRANSFERASE 8; PRMT8

April 26, 2006

New Entries:

300588 ODZ, DROSOPHILA, HOMOLOG OF, 1; ODZ1

300589 NYSTAGMUS 5, INFANTILE PERIODIC ALTERNATING; NYS5

610083 ODZ, DROSOPHILA, HOMOLOG OF, 3; ODZ3

610084 ODZ, DROSOPHILA, HOMOLOG OF, 4; ODZ4

610086 PROTEIN ARGININE N-METHYLTRANSFERASE 8; PRMT8

Clinical Synopsis for 609021 PERIPHERAL CONE DYSTROPHY

Changed Entries:

122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN

122470 CORNELIA DE LANGE SYNDROME; CDLS

153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR

163890 SYNUCLEIN, ALPHA; SNCA

168600 PARKINSON DISEASE; PD

168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1

251600 MICROPHTHALMIA, AUTOSOMAL RECESSIVE

600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

602082 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2

602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3

602544 PARKIN; PARK2

603205 MORC FAMILY CW-TYPE ZINC FINGER 1; MORC1

605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

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

606463 GLUCOSIDASE, BETA, ACID; GBA

608051 MACULAR DYSTROPHY, RETINAL, 2, BULL'S EYE

609021 PERIPHERAL CONE DYSTROPHY

610078 MORC FAMILY CW-TYPE ZINC FINGER 3; MORC3

April 25, 2006

New Entries:

300587 MALIGNANT T-CELL AMPLIFIED SEQUENCE 1; MCTS1

610078 MORC FAMILY CW-TYPE ZINC FINGER 3; MORC3

610079 SIALIC ACID ACETYLESTERASE; SIAE

610080 TM2 DOMAIN-CONTAINING PROTEIN 1; TM2D1

610081 TM2 DOMAIN-CONTAINING PROTEIN 2; TM2D2

610082 MYOSIN REGULATORY LIGHT CHAIN-INTERACTING PROTEIN; MYLIP

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

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

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

126450 DOPAMINE RECEPTOR D2; DRD2

126452 DOPAMINE RECEPTOR D4; DRD4

127750 DEMENTIA, LEWY BODY; DLB

139250 GROWTH HORMONE 1; GH1

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

147450 SUPEROXIDE DISMUTASE 1; SOD1

154700 MARFAN SYNDROME; MFS

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

162200 NEUROFIBROMATOSIS, TYPE I; NF1

163950 NOONAN SYNDROME 1; NS1

176640 PRION PROTEIN; PRNP

176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11

182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A

182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),

190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB

191060 TRYPTOPHAN HYDROXYLASE 1; TPH1

275000 GRAVES DISEASE

300583 VESTIGIAL-LIKE 1; VGLL1

530000 KEARNS-SAYRE SYNDROME; KSS

601122 5-@HYDROXYTRYPTAMINE RECEPTOR 2B; HTR2B

601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

601831 HISTONE 2, H2BE; HIST2H2BE

603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR

603716 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCM2

605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B

605213 3-@PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1

605861 TRANSMEMBRANE PROTEIN 4; TMEM4

605921 STROMAL INTERACTION MOLECULE 1; STIM1

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

607060 PARKINSON DISEASE 8; PARK8

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

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

610014 TM2 DOMAIN-CONTAINING PROTEIN 3; TM2D3

Clinical Synopsis for 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

April 24, 2006

New Entries:

610072 ERMIN

610073 ORM1-LIKE PROTEIN 1; ORMDL1

610074 ORM1-LIKE PROTEIN 2; ORMDL2

610075 ORM1-LIKE PROTEIN 3; ORMDL3

610076 CELL CYCLE-RELATED KINASE; CCRK

610077 RESPONSE GENE TO COMPLEMENT 32

Clinical Synopsis for 602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3

Clinical Synopsis for 609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5

Clinical Synopsis for 609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4

Clinical Synopsis for 610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7

Changed Entries:

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107680 APOLIPOPROTEIN A-I; APOA1

107741 APOLIPOPROTEIN E; APOE

109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1

116945 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 2; MCM2

138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1

142720 HISTONE 2, H2AA; HIST2H2AA

142750 H4 HISTONE FAMILY, MEMBER N; H4FN

147421 INCLUSION BODY MYOSITIS

164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1

172700 PICK DISEASE OF BRAIN

186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1

188411 THYMOCYTE ANTIGEN CD1E; CD1E

188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY

191339 UBIQUITIN B; UBB

194050 WILLIAMS-BEUREN SYNDROME; WBS

220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

223200 DISORGANIZATION, MOUSE, HOMOLOG OF

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600274 FRONTOTEMPORAL DEMENTIA

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

600829 INOSITOL POLYPHOSPHATE PHOSPHATASE-LIKE 1; INPPL1

600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1

601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5

601761 CASPASE 7, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP7

601955 CYCLIN-DEPENDENT KINASE 7; CDK7

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3

602822 HISTONE 1, H4A; HIST1H4A

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603465 CELL DIVISION CYCLE 45, S. CEREVISIAE, HOMOLOG-LIKE; CDC45L

604479 SIRTUIN 1; SIRT1

604839 FK506-BINDING PROTEIN 6; FKBP6

604916 HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES,

605046 UBIQUILIN 1; UBQLN1

605738 MICROPHTHALMIA, COLOBOMATOUS, 2; MOPCB2

606900 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-8 SUBUNIT; CACNG8

607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU

607172 SERINE/THREONINE KINASE 11-INTERACTING PROTEIN; STK11IP

608537 VHL GENE; VHL

608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2

609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5

609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4

610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7

610074 ORM1-LIKE PROTEIN 2; ORMDL2

Clinical Synopsis for 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY

Clinical Synopsis for 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Clinical Synopsis for 601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2

Clinical Synopsis for 602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3

Clinical Synopsis for 606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6

Clinical Synopsis for 609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5

Clinical Synopsis for 609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4

April 21, 2006

New Entries:

610045 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1

610069 POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2

610070 ASTER-ASSOCIATED PROTEIN

610071 HYPERPARATHYROIDISM 3; HRPT3

Changed Entries:

114085 S100 CALCIUM-BINDING PROTEIN A10; S100A10

119500 POPLITEAL PTERYGIUM SYNDROME; PPS

143100 HUNTINGTON DISEASE; HD

145000 HYPERPARATHYROIDISM 1; HRPT1

164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2

165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA

173510 CD36 ANTIGEN; CD36

174900 JUVENILE POLYPOSIS SYNDROME; JPS

176264 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 3;

176270 PRADER-WILLI SYNDROME; PWS

176640 PRION PROTEIN; PRNP

182131 5-@HYDROXYTRYPTAMINE RECEPTOR 1B; HTR1B

271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

300074 X CHROMOSOME-CONTROLLING ELEMENT; XCE

300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX

312861 5-@HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

600040 BCL2-ASSOCIATED X PROTEIN; BAX

600516 BCL2 ANTAGONIST KILLER 1; BAK1

601047 CAVEOLIN 1; CAV1

601186 ANOPHTHALMIA AND PULMONARY HYPOPLASIA

601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1

601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A

601467 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1

601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1

602032 ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE

602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1

602478 DNA METHYLTRANSFERASE 2; DNMT2

602767 KERATIN, HAIR, BASIC, 5; KRTHB5

603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5

603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS

605259 SPINOCEREBELLAR ATAXIA 13; SCA13

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

606726 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER

607154 ALLERGIC RHINITIS

607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS

608630 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 3; ROBO3

609165 ERYTHROKERATODERMA, RETICULAR

609837 RNA, HBII-52 SMALL NUCLEOLAR

610045 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1

610069 POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2

April 20, 2006

New Entries:

610067 MYOSIN XVIIIA; MYO18A

610068 SOLUTE CARRIER FAMILY 26 (ANION TRANSPORTER), MEMBER 6: SLC26A6

Changed Entries:

112600 BRACHYDACTYLY, TYPE A2; BDA2

115150 CARDIOFACIOCUTANEOUS SYNDROME

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

130160 ELASTIN; ELN

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

164970 ONCOGENE TRK

176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1

182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

191030 TROPOMYOSIN 3; TPM3

214800 CHARGE SYNDROME

219100 CUTIS LAXA, AUTOSOMAL RECESSIVE

251260 NIJMEGEN BREAKAGE SYNDROME

256700 NEUROBLASTOMA

300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE

300414 PHD FINGER PROTEIN 6; PHF6

301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS

309530 MENTAL RETARDATION, X-LINKED 1; MRX1

600244 PROGRAMMED CELL DEATH 1; PDCD1

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5

601263 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2

602667 NBS1 GENE; NBS1

603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,

605402 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1

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

607127 RAB6-INTERACTING PROTEIN 2; RAB6IP2

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7

609517 TGFB1-INDUCED ANTIAPOPTOTIC FACTOR 1; TIAF1

609755 CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3

April 19, 2006

New Entries:

610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1

610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7

610066 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8

Changed Entries:

108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

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

118423 CHIMERIN 1; CHN1

123700 CUTIS LAXA, AUTOSOMAL DOMINANT

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

130160 ELASTIN; ELN

147620 INTERLEUKIN 6; IL6

157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1

159440 MYELIN PROTEIN ZERO; MPZ

164160 LEPTIN; LEP

173391 PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR

182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A

188380 THYMOPOIETIN; TMPO

191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU

219100 CUTIS LAXA, AUTOSOMAL RECESSIVE

219200 CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY

234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN

257200 NIEMANN-PICK DISEASE, TYPE A

271900 CANAVAN DISEASE

300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16

300302 DYNEIN, LIGHT CHAIN, TCTEX TYPE, 3; DYNLT3

300401 PROTEOLIPID PROTEIN 1; PLP1

300405 RAS-LIKE GTPase GENE

303350 MASA SYNDROME

304040 GAP JUNCTION PROTEIN, BETA-1; GJB1

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

310600 NORRIE DISEASE; ND

312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2

600112 DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1

600274 FRONTOTEMPORAL DEMENTIA

600379 MYELIN TRANSCRIPTION FACTOR 1; MYT1

601554 DYNEIN, LIGHT CHAIN, TCTEX TYPE, 1; DYNLT1

601562 DYNEIN, LIGHT CHAIN, LC8 TYPE, 1; DYNLL1

602600 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 8; LRP8

602937 CBP/p300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH C-TERMINAL

603297 DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1

603331 DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 2; DYNC1I2

603677 MYELIN TRANSCRIPTION FACTOR 2; MYT2

603772 DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 1; DYNC1I1

603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

604312 CYSTATIN 3; CST3

605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2

606157 PANTOTHENATE KINASE 2; PANK2

606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607167 DYNEIN, LIGHT CHAIN, ROADBLOCK TYPE, 1; DYNLRB1

607168 DYNEIN, LIGHT CHAIN, ROADBLOCK TYPE, 2; DYNLRB2

607933 SOLUTE CARRIER FAMILY 7, MEMBER 11; SLC7A11

608516 MAJOR DEPRESSIVE DISORDER; MDD

608942 DYNEIN, LIGHT CHAIN, LC8 TYPE, 2; DYNLL2

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609641 PCI DOMAIN-CONTAINING PROTEIN 1; PCID1

609903 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5

609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6

610049 CYTOKINE-INDUCED PROTEIN, 29-KD

610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7

Clinical Synopsis for 312080 PELIZAEUS-MERZBACHER DISEASE; PMD

April 18, 2006

New Entries:

610058 TUBULIN-SPECIFIC CHAPERONE A; TBCA

610059 MITOCHONDRIAL RIBOSOMAL PROTEIN L33; MRPL33

610060 POLYMERASE I, RNA, SUBUNIT C; POLR1C

610061 DYNEIN, AXONEMAL, HEAVY CHAIN 7; DNAH7

610062 DYNEIN, AXONEMAL, LIGHT CHAIN 1

610063 DYNEIN, AXONEMAL, HEAVY CHAIN 17; DNAH17

Changed Entries:

105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

116805 CATENIN, ALPHA-1; CTNNA1

120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

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

140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE

142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C

143100 HUNTINGTON DISEASE; HD

148067 KERATIN 16; KRT16

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

162091 SCHWANNOMATOSIS

162700 NEUTROPENIA, CHRONIC FAMILIAL

164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1

165720 OSTEOARTHRITIS

167050 OXYTOCIN; OXT

167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1

176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A; PAPPA

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1

180901 RYANODINE RECEPTOR 1; RYR1

182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),

271900 CANAVAN DISEASE

600112 DYNEIN, CYTOPLASMIC, HEAVY CHAIN 1; DNCH1

601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1

602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1

603330 DYNEIN, AXONEMAL, HEAVY CHAIN 9; DNAH9

603333 DYNEIN, AXONEMAL, HEAVY CHAIN 2; DNAH2

603336 DYNEIN, AXONEMAL, HEAVY CHAIN 6; DNAH6

603337 DYNEIN, AXONEMAL, HEAVY CHAIN 8; DNAH8

603340 DYNEIN, HEAVY CHAIN 12; DNAH12

603341 DYNEIN, AXONEMAL, HEAVY CHAIN 14; DNAH14

604251 CALCINEURIN-BINDING PROTEIN 1

605248 MUCOLIPIN 1; MCOLN1

605601 PROTEOGLYCAN 2; PRG2

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

605884 DYNEIN, AXONEMAL, HEAVY CHAIN 10; DNAH10

605899 GLYCINE ENCEPHALOPATHY; GCE

606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24

607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

608147 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 5; TUBGCP5

608167 POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 1; KCNT1

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609915 CARDIOMYOPATHY, DILATED, 1Q; CMD1Q

610056 SPERM-ASSOCIATED ANTIGEN 7; SPAG7

610063 DYNEIN, AXONEMAL, HEAVY CHAIN 17; DNAH17

April 17, 2006

New Entries:

610053 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6

610054 H2A HISTONE FAMILY, MEMBER Y; H2AFY

610055 COILED-COIL AND C2 DOMAIN-CONTAINING 1A; CC2D1A

610056 SPERM ASSOCIATED ANTIGEN 7; SPAG7

610057 GLYCOPROTEIN, SYNAPTIC, 2; GPSN2

Changed Entries:

103070 ADENYLATE CYCLASE 8; ADCY8

118945 CILIARY NEUROTROPHIC FACTOR; CNTF

118946 CILIARY NEUROTROPHIC FACTOR RECEPTOR; CNTFR

138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B;

138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;

164160 LEPTIN; LEP

164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT

176893 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, GAMMA; PRKACG

176960 PROTEIN KINASE C, ALPHA; PRKCA

188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A

218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

601007 LEPTIN RECEPTOR; LEPR

601115 GLUTAMATE RECEPTOR, METABOTROPIC, 3; GRM3

601149 ISOCITRATE DEHYDROGENASE 3, ALPHA SUBUNIT; IDH3A

602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G

602784 CORTISTATIN; CORT

603777 CERBERUS 1 HOMOLOG, CYSTEINE KNOT SUPERFAMILY; CER1

607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS

608147 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 5; TUBGCP5

608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3

609068 DAN DOMAIN FAMILY, MEMBER 5; DAND5

610028 POLY(ADP-RIBOSE) POLYMERASE 14; PARP14

April 14, 2006

Changed Entries:

114500 COLORECTAL CANCER; CRC

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

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

164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS

164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT

173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2

190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS

190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2

191170 TUMOR PROTEIN p53; TP53

263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

275350 TRANSCOBALAMIN II DEFICIENCY

600386 INHIBITOR OF DNA BINDING 2; ID2

601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1

602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1

602384 PHOSPHOLIPASE D2; PLD2

605196 COQ3, S. CEREVISIAE, HOMOLOG OF; COQ3

606980 CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1

607429 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1; PDSS1

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

608507 MITOFUSIN 2; MFN2

608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9

609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6

April 13, 2006

New Entries:

610047 PROTEIN ASSOCIATED WITH TLR4

610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD

610049 CYTOKINE-INDUCED PROTEIN, 29-KD

610050 TRANSMEMBRANE PROTEIN, SERINE 13; TMPRSS13

610051 CHROMATIN-MODIFYING PROTEIN 4A; CHMP4A

610052 VACUOLAR PROTEIN SORTING 24, YEAST, HOMOLOG OF; VPS24

Changed Entries:

115470 CAT EYE SYNDROME; CES

121700 CORNEAL ENDOTHELIAL DYSTROPHY 1; CHED1

125255 DECORIN; DCN

132811 EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

161200 NAIL-PATELLA SYNDROME; NPS

182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),

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

192500 LONG QT SYNDROME 1; LQT1

238950 HYPEROPIA, HIGH

600165 NANOPHTHALMOS 1; NNO1

602867 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 7; IGFBP7

605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2

606486 CHROMATIN-MODIFYING PROTEIN 1B; CHMP1B

606764 GASTROINTESTINAL STROMAL TUMOR; GIST

609351 ADP-RIBOSYLATION FACTOR-LIKE 11; ARL11

609582 MICRO RNA 122A; MIRN122A

609620 SHORT QT SYNDROME 1; SQT1

609983 VACUOLAR PROTEIN SORTING 4, YEAST, HOMOLOG OF, B; VPS4B

April 12, 2006

New Entries:

610043 COLLAGEN, TYPE XXIII, ALPHA-1; COL23A1

610044 POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 2; KCNT2

610046 LAEVERIN

Changed Entries:

103285 ADULT SYNDROME

116806 CATENIN, BETA-1; CTNNB1

116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM

126065 CYTOCHROME P450, FAMILY 24, SUBFAMILY A, POLYPEPTIDE 1; CYP24A1

138420 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1; GPD1

138430 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; GPD2

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

159552 MYELOID CELL LEUKEMIA 1; MCL1

180901 RYANODINE RECEPTOR 1; RYR1

182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

232300 GLYCOGEN STORAGE DISEASE II

255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4

600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP

600618 ETS VARIANT GENE 6; ETV6

600946 GROWTH HORMONE RECEPTOR; GHR

601626 LEUKEMIA, ACUTE MYELOID; AML

601769 VITAMIN D RECEPTOR; VDR

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

602483 AURICULOCONDYLAR SYNDROME

603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2

603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3

605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B

606439 SPG3A GENE; SPG3A

606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A

607238 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 1; COMMD1

607426 COENZYME Q10 DEFICIENCY

607929 CCM2 GENE; CCM2

609118 PROGRAMMED CELL DEATH 10; PDCD10

609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1

April 11, 2006

New Entries:

610031 POLYMICROGYRIA, UNILATERAL

610041 NEDD4 FAMILY-INTERACTING PROTEIN 2; NDFIP2

610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Changed Entries:

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1

147421 INCLUSION BODY MYOSITIS

157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1

181500 SCHIZOPHRENIA; SCZD

182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

194050 WILLIAMS-BEUREN SYNDROME; WBS

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

256300 NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1

262500 PITUITARY DWARFISM II

301500 FABRY DISEASE

590000 TRANSFER RNA, MITOCHONDRIAL, ALANINE; MTTA

600201 AGOUTI SIGNALING PROTEIN; ASIP

601972 RAR-RELATED ORPHAN RECEPTOR B; RORB

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

604277 SPG4 GENE; SPG4

604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2

605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1

605353 GHRELIN; GHRL

605730 SPERM-ASSOCIATED ANTIGEN 6; SPAG6

606810 PROLINE DEHYDROGENASE; PRODH

606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

607478 TRYPTOPHAN HYDROXYLASE 2; TPH2

607822 ALZHEIMER DISEASE 3

608516 MAJOR DEPRESSIVE DISORDER; MDD

610031 POLYMICROGYRIA, UNILATERAL

April 10, 2006

New Entries:

610035 VACUOLAR PROTEIN SORTING 45, YEAST, HOMOLOG OF, A; VPS45A

610036 CLAUDIN 19; CLDN19

610037 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, B; VPS37B

610038 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, C; VPS37C

610039 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, D; VPS37D

610040 MYOSIN IIIB; MYO3B

Changed Entries:

124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19

126452 DOPAMINE RECEPTOR D4; DRD4

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

166710 OSTEOPOROSIS, INVOLUTIONAL

182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),

182920 MYOPATHY, SPHEROID BODY

190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

191060 TRYPTOPHAN HYDROXYLASE; TPH

209850 AUTISM

219200 CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY

600807 ASTHMA, SUSCEPTIBILITY TO

600946 GROWTH HORMONE RECEPTOR; GHR

601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101

601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED

601696 NOVELTY SEEKING PERSONALITY TRAIT

601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1

602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2

603342 SCHIZOPHRENIA 2; SCZD2

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

604103 TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID

604659 ENDOGENOUS RETROVIRAL FAMILY W, ENV-C7, MEMBER 1; ERVWE1

604896 MKKS GENE; MKKS

605820 NONAKA MYOPATHY; NM

607277 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1

607834 NEUROTICISM

607961 SEMAPHORIN 7A; SEMA7A

608584 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2

608706 DYSLEXIA SUSCEPTIBILITY 1 CANDIDATE 1; DYX1C1

609359 HS1-BINDING PROTEIN 3; HS1BP3

609511 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20

609927 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, A; VPS37A

609958 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3

April 7, 2006

New Entries:

609958 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3

610022 MYOSIN VC; MYO5C

610027 VACUOLAR PROTEIN SORTING 26, YEAST, HOMOLOG OF, B; VPS26B

610028 POLY(ADP-RIBOSE) POLYMERASE 14; PARP14

610029 VOLTAGE-DEPENDENT ANION CHANNEL 3; VDAC3

610030 VOLTAGE-DEPENDENT ANION CHANNEL 4; VDAC4

610032 TRANSPORTIN 3; TNPO3

610033 PENTA-EF HAND DOMAIN-CONTAINING PROTEIN 1; PEF1

610034 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, A; VPS33A

Changed Entries:

103780 ALCOHOL DEPENDENCE

118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

137920 RENAL CYSTS AND DIABETES SYNDROME

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

164950 FIBROBLAST GROWTH FACTOR 3; FGF3

172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1

173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1

188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO

189907 TRANSCRIPTION FACTOR 2; TCF2

191160 TUMOR NECROSIS FACTOR; TNF

262600 PITUITARY DWARFISM III

600018 OPIOID RECEPTOR, MU-1; OPRM1

600511 SCHIZOPHRENIA 3; SCZD3

600807 ASTHMA, SUSCEPTIBILITY TO

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

600953 INTERLEUKIN 18; IL18

601007 LEPTIN RECEPTOR; LEPR

601057 PROGRAMMED CELL DEATH 6; PDCD6

601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1

601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2

602901 TRANSPORTIN 1; TNPO1

603002 TRANSPORTIN 2; TNPO2

604284 MOVED TO 137920

605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC

605506 VACUOLAR PROTEIN SORTING 26, YEAST, HOMOLOG OF, A; VPS26A

606540 MYOSIN VB; MYO5B

607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1

607277 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1

607408 G72 GENE

607519 POLY(ADP-RIBOSE) POLYMERASE 4; PARP4

607725 POLY(ADP-RIBOSE) POLYMERASE 2; PARP2

607726 POLY(ADP-RIBOSE) POLYMERASE 3; PARP3

608584 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2

609517 TGFB1-INDUCED ANTIAPOPTOTIC FACTOR 1; TIAF1

April 6, 2006

New Entries:

610014 TM2 DOMAIN-CONTAINING PROTEIN 3; TM2D3

610024 RETINAL CONE DYSTROPHY 3; RCD3

610026 COLLAGEN, TYPE XXII, ALPHA-1; COL22A1

Changed Entries:

105830 ANGELMAN SYNDROME; AS

114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA

146660 INTERLEUKIN 7; IL7

146661 INTERLEUKIN 7 RECEPTOR; IL7R

172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B

176640 PRION PROTEIN; PRNP

176807 PROSTATE CANCER

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1

182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

300573 ZINC FINGER PROTEIN 674; ZNF674

300578 Xp11.3 DELETION SYNDROME

300585 ZINC FINGER PROTEIN 673; ZNF673

306995 HOMOSEXUALITY 1; HMS1

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

400003 DELETED IN AZOOSPERMIA; DAZ

415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED

516005 COMPLEX I, SUBUNIT ND5; MTND5

600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B

600846 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4

600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A

600946 GROWTH HORMONE RECEPTOR; GHR

601190 PHOSPHODIESTERASE 6H, cGMP-SPECIFIC, CONE, GAMMA; PDE6H

601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1

601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

601665 OBESITY

602565 CHEMOKINE, CC MOTIF, LIGAND 25; CCL25

603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1

603827 BCL2-LIKE 11; BCL2L11

604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP

604738 CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9

605290 OPA1 GENE; OPA1

606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION

607117 MCPH1 GENE; MCPH1

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY

609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1

610024 RETINAL CONE DYSTROPHY 3; RCD3

610026 COLLAGEN, TYPE XXII, ALPHA-1; COL22A1

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

April 5, 2006

New Entries:

300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 2, X-LINKED; CFTD2

610023 BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS

610025 COLLAGEN, TYPE XXIV, ALPHA-1; COL24A1

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

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

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY

126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2

133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

168600 PARKINSON DISEASE; PD

173850 POLIOVIRUS RECEPTOR; PVR

176640 PRION PROTEIN; PRNP

188400 DIGEORGE SYNDROME; DGS

212750 CELIAC DISEASE; CD

255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

300441 SH3 PROTEIN EXPRESSED IN LYMPHOCYTES

313700 ANDROGEN RECEPTOR; AR

600798 POLIOVIRUS RECEPTOR-LIKE 2; PVRL2

601190 PHOSPHODIESTERASE 6H, cGMP-SPECIFIC, CONE, GAMMA; PDE6H

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

602919 DOCKING PROTEIN 1; DOK1

603100 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2

604099 GLUTAMATE RECEPTOR, METABOTROPIC, 2; GRM2

604153 NEUROMEDIN U RECEPTOR 1; NMUR1

604997 DOCKING PROTEIN 2; DOK2

605103 NEUROMEDIN U; NMU

605108 NEUROMEDIN U RECEPTOR 2; NMUR2

605397 CD226 ANTIGEN; CD226

605933 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 4; TM7SF4

606158 BSCL2 GENE; BSCL2

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

607202 CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5

607978 SAM DOMAIN, SH3 DOMAIN, AND NUCLEAR LOCALIZATION SIGNALS 1; SAMSN1

608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA

610025 COLLAGEN, TYPE XXIV, ALPHA-1; COL24A1

April 4, 2006

New Entries:

610006 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

Changed Entries:

100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2

103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2

103780 ALCOHOL DEPENDENCE

107273 CD69 ANTIGEN; CD69

123590 CRYSTALLIN, ALPHA-B; CRYAB

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2

126452 DOPAMINE RECEPTOR D4; DRD4

132811 EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2

146661 INTERLEUKIN 7 RECEPTOR; IL7R

147781 INTERLEUKIN 4 RECEPTOR; IL4R

154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2

155541 MELANOCORTIN 4 RECEPTOR; MC4R

164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1

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

167870 PANIC DISORDER 1; PAND1

176830 PROOPIOMELANOCORTIN; POMC

176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1

182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),

184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1

184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1

188550 THYROID CARCINOMA, PAPILLARY

193400 VON WILLEBRAND DISEASE

212750 CELIAC DISEASE; CD

234000 HAGEMAN FACTOR DEFICIENCY

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

304040 GAP JUNCTION PROTEIN, BETA-1; GJB1

308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG

600173 JANUS KINASE 3; JAK3

600301 ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB

600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2

600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2

601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A

602016 KRUPPEL-LIKE FACTOR 2; KLF2

602962 UBIQUITIN-CONJUGATING ENZYME E2D 2; UBE2D2

603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10

604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B

604419 POLYMERASE, DNA, THETA; POLQ

607834 NEUROTICISM

607939 SULFATASE-MODIFYING FACTOR 1; SUMF1

608516 MAJOR DEPRESSIVE DISORDER; MDD

609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1

609675 SCLEROSTIN DOMAIN-CONTAINING PROTEIN 1; SOSTDC1

April 3, 2006

Changed Entries:

106150 ANGIOTENSIN I; AGT

107450 INTERFERON, ALPHA, BETA, AND OMEGA, RECEPTOR 1; IFNAR1

116952 CELL DIVISION CYCLE 42; CDC42

136539 FORMYL PEPTIDE RECEPTOR-LIKE 2; FPRL2

151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL

151430 B-CELL CLL/LYMPHOMA 2; BCL2

167415 PAIRED BOX GENE 8; PAX8

168450 PARATHYROID HORMONE; PTH

179850 DOWLING-DEGOS DISEASE; DDD

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

191045 TROPONIN T2, CARDIAC; TNNT2

600288 FORKHEAD BOX A2; FOXA2

600635 THYROID TRANSCRIPTION FACTOR 1; TITF1

600869 G PROTEIN-COUPLED RECEPTOR KINASE 6; GPRK6

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

602617 FORKHEAD BOX E1; FOXE1

604850 COP9, SUBUNIT 5; COPS5

604870 MACROPHAGE RECEPTOR WITH COLLAGENOUS STRUCTURE; MARCO

605330 INTERLEUKIN 22; IL22

605457 INTERLEUKIN 22 RECEPTOR, ALPHA-1; IL22RA1

605826 HEME-BINDING PROTEIN 1; HEBP1

607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5

607271 CASPASE 8 DEFICIENCY

609703 MICRO RNA 15A; MIRN15A

609704 MICRO RNA 16-1; MIRN16-1

609840 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER