PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for May, 2006

May 31, 2006

New Entries:

610152 PROLIFERATION-ASSOCIATED NUCLEAR ELEMENT 1

Changed Entries:

101600 PFEIFFER SYNDROME

103280 H19 GENE; H19

115501 TYROSINASE-RELATED PROTEIN 1; TYRP1

116840 CATHEPSIN D; CTSD

139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

167800 PANCREATITIS, HEREDITARY; PCTT

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

188450 THYROGLOBULIN; TG

203290 OCULOCUTANEOUS ALBINISM, TYPE III; OCA3

227810 FANCONI-BICKEL SYNDROME; FBS

236200 HOMOCYSTINURIA

276000 PROTEASE, SERINE, 1; PRSS1

516003 COMPLEX I, SUBUNIT ND4; MTND4

601564 PROTEASE, SERINE, 2; PRSS2

602291 FORKHEAD BOX J1; FOXJ1

603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4

604167 CCCTC-BINDING FACTOR; CTCF

604623 ALPHA-1,3-@MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE,

606283 SORCS RECEPTOR 1; SORCS1

606519 PHACE ASSOCIATION

606542 HISTONE DEACETYLASE 7A; HDAC7A

607154 ALLERGIC RHINITIS

607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11

607751 TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38

609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;

May 30, 2006

New Entries:

610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5; CCT5

610151 METHIONYL AMINOPEPTIDASE 1; METAP1

Changed Entries:

162200 NEUROFIBROMATOSIS, TYPE I; NF1

603030 TOLL-LIKE RECEPTOR 4; TLR4

609503 TESTICULAR HAPLOID EXPRESSED GENE, MOUSE, HOMOLOG OF; THEG

609810 PATERNALLY EXPRESSED GENE 10; PEG10

Clinical Synopsis for 232300 GLYCOGEN STORAGE DISEASE II

May 26, 2006

New Entries:

610147 G PROTEIN-COUPLED BILE ACID RECEPTOR 1; GPBAR1

610149 LOCUS 387715

Changed Entries:

606759 DUAL OXIDASE 2; DUOX2

610149 LOCUS 387715

May 25, 2006

New Entries:

610148 CHROMOSOME 12 OPEN READING FRAME 58; C12ORF58

Changed Entries:

104300 ALZHEIMER DISEASE; AD

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

119600 CLEIDOCRANIAL DYSPLASIA; CCD

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

209900 BARDET-BIEDL SYNDROME; BBS

210250 SITOSTEROLEMIA

305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

600274 FRONTOTEMPORAL DEMENTIA

600514 REELIN; RELN

601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

605014 SYNTAXIN 11; STX11

605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5

605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8

May 24, 2006

New Entries:

609820 ERYTHROCYTOSIS, FAMILIAL, 3

610141 QT INTERVAL, VARIATION IN

610142 CENTROSOMAL PROTEIN, 290-KD; CEP290

610144 TBC1 DOMAIN FAMILY, MEMBER 3B; TBC1D3B

610145 ENDOTHELIN-CONVERTING ENZYME 2; ECE2

610146 INSULIN-LIKE GROWTH FACTOR II, ANTISENSE; IGF2AS

Changed Entries:

115080 CARDIAC CONDUCTION DEFECT

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

133100 ERYTHROCYTOSIS, FAMILIAL, 1

133171 ERYTHROPOIETIN RECEPTOR; EPOR

133180 ERYTHROLEUKEMIA, FAMILIAL

143100 HUNTINGTON DISEASE; HD

147720 INTERLEUKIN 1-BETA; IL1B

152450 LOW DENSITY LIPOPROTEIN, VARIATION IN MOLECULAR WEIGHT OF

153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1

164160 LEPTIN; LEP

168600 PARKINSON DISEASE; PD

176807 PROSTATE CANCER

235550 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI

236670 WALKER-WARBURG SYNDROME

263300 POLYCYTHEMIA VERA

263400 ERYTHROCYTOSIS, FAMILIAL, 2

306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD

516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1

600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1

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

600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

601367 STROKE, ISCHEMIC

602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10

602544 PARKIN; PARK2

602821 KINESIN FAMILY MEMBER 5A; KIF5A

604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10

604457 NUCLEAR BODY PROTEIN SP110; SP110

604585 NUCLEAR BODY PROTEIN SP100; SP100

605551 NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN; NOS1AP

606425 EGL9, C. ELEGANS, HOMOLOG OF, 1; EGLN1

607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1

607741 TBC1 DOMAIN FAMILY, MEMBER 3; TBC1D3

608346 MOVED TO 236670

608537 VHL GENE; VHL

610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

May 23, 2006

New Entries:

300582 SHORT STATURE, IDIOPATHIC, X-LINKED

300591 STATURE QUANTITATIVE TRAIT LOCUS 6

610114 STATURE QUANTITATIVE TRAIT LOCUS 8

610139 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 6; ST8SIA6

Changed Entries:

106165 ANGIOTENSIN RECEPTOR 1; AGTR1

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

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

109675 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GAL1

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

123920 CYTIDINE DEAMINASE; CDA

139250 GROWTH HORMONE 1; GH1

142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT

152430 LONGEVITY

153455 LYSYL OXIDASE; LOX

155555 MELANOCORTIN 1 RECEPTOR; MC1R

167416 PAIRED BOX GENE 9; PAX9

174900 JUVENILE POLYPOSIS SYNDROME; JPS

188400 DIGEORGE SYNDROME; DGS

192430 VELOCARDIOFACIAL SYNDROME

219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II

300246 PROTOCADHERIN 11, X-LINKED; PCDH11X

300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

304150 CUTIS LAXA, X-LINKED

309700 MICROPHTHALMIA, ISOLATED 3; MCOP3

312865 SHORT STATURE HOMEOBOX; SHOX

313700 ANDROGEN RECEPTOR; AR

400022 PROTOCADHERIN 11, Y-LINKED; PCDH11Y

600946 GROWTH HORMONE RECEPTOR; GHR

601123 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 1; ST8SIA1

601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10

601769 VITAMIN D RECEPTOR; VDR

601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6

601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR

602546 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 2; ST8SIA2

603718 CLAUDIN 1; CLDN1

603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL

604625 OLIGODONTIA

605395 TRANSMEMBRANE EMP24 TRANSPORT DOMAIN-CONTAINING PROTEIN 1; TMED1

605406 TRANSMEMBRANE EMP24 TRANSPORT DOMAIN-CONTAINING PROTEIN 10; TMED10

606228 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1

606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

606255 STATURE AS A QUANTITATIVE TRAIT

606256 STATURE QUANTITATIVE TRAIT LOCUS 2

606257 STATURE QUANTITATIVE TRAIT LOCUS 3

606258 STATURE QUANTITATIVE TRAIT LOCUS 4

606494 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3; ST3GAL3

607187 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 1; ST3GAL1

607188 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 2; ST3GAL2

607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

608982 STATURE QUANTITATIVE TRAIT LOCUS 5

609822 STATURE QUANTITATIVE TRAIT LOCUS 7

May 22, 2006

New Entries:

610136 DEVRIENDT SYNDROME

610137 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE

610138 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE

Changed Entries:

125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

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

143100 HUNTINGTON DISEASE; HD

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9

191060 TRYPTOPHAN HYDROXYLASE 1; TPH1

193530 WEYERS ACROFACIAL DYSOSTOSIS

219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I

219200 CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY

225500 ELLIS-VAN CREVELD SYNDROME; EVC

234000 HAGEMAN FACTOR DEFICIENCY

243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME

309850 MONOAMINE OXIDASE A; MAOA

600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS

600276 NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3

604402 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 5; ST3GAL5

604633 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2

605249 SEBASTIAN SYNDROME; SBS

605993 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 2C; PPM2C

607188 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 2; ST3GAL2

607261 EVC2 GENE; EVC2

608516 MAJOR DEPRESSIVE DISORDER; MDD

608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Clinical Synopsis for 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

May 19, 2006

New Entries:

610133 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE

610134 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE

610135 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE

Changed Entries:

100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2

151410 BREAKPOINT CLUSTER REGION; BCR

184755 STEROL CARRIER PROTEIN 2; SCP2

234000 HAGEMAN FACTOR DEFICIENCY

601518 PROSTATE CANCER, HEREDITARY, 1; HPC1

604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3

605805 DERMATITIS, ATOPIC, 4; ATOD4

606378 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE

May 18, 2006

New Entries:

300594 G ANTIGEN 1; GAGE1

300595 G ANTIGEN 2; GAGE2

300596 G ANTIGEN 3; GAGE3

300597 G ANTIGEN 4; GAGE4

300598 G ANTIGEN 5; GAGE5

300599 G ANTIGEN 6; GAGE6

300601 G ANTIGEN 7; GAGE7

610124 CARBOHYDRATE SULFOTRANSFERASE 13; CHST13

610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

610132 VANG-LIKE 1; VANGL1

Changed Entries:

104300 ALZHEIMER DISEASE; AD

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2

134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA

137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP

157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

188050 THROMBOPHILIA

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU

202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY

203450 ALEXANDER DISEASE

256850 GIANT AXONAL NEUROPATHY 1; GAN1

300092 CHROMOSOME X OPEN READING FRAME 2; CXORF2

300288 G ANTIGEN, FAMILY B, 1; GAGEB1

300289 G ANTIGEN, FAMILY D, 2; GAGED2

300315 NUCLEAR RNA EXPORT FACTOR 2; NXF2

300416 G ANTIGEN, FAMILY D, 3; GAGED3

600533 VANG-LIKE 2; VANGL2

601410 DIABETES MELLITUS, TRANSIENT NEONATAL

601588 EPIDERMAL DIFFERENTIATION COMPLEX; EDC

603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4

604132 MOVED TO 300601

604243 MOVED TO 300594

604244 MOVED TO 300595

604245 MOVED TO 300596

604246 MOVED TO 300597

604247 MOVED TO 300598

604248 MOVED TO 300599

604983 POLYMERASE, DNA, GAMMA-2; POLG2

607323 DUANE-RADIAL RAY SYNDROME; DRRS

607343 SAL-LIKE 4; SALL4

608197 PEPTIDOGLYCAN RECOGNITION PROTEIN 3; PGLYRP3

608198 PEPTIDOGLYCAN RECOGNITION PROTEIN 4; PGLYRP4

609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

610124 CARBOHYDRATE SULFOTRANSFERASE 13; CHST13

May 17, 2006

New Entries:

300592 LOC255313 GENE

300593 LOC389852 GENE

610127 CATHEPSIN D DEFICIENCY

610128 CARBOHYDRATE SULFOTRANSFERASE 11; CHST11

610129 CARBOHYDRATE SULFOTRANSFERASE 12; CHST12

610130 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 1; SLC26A1

Changed Entries:

102630 ACTIN, BETA; ACTB

114500 COLORECTAL CANCER; CRC

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

116840 CATHEPSIN D; CTSD

120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

150100 LACTATE DEHYDROGENASE B; LDHB

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

191060 TRYPTOPHAN HYDROXYLASE 1; TPH1

219700 CYSTIC FIBROSIS; CF

222400 DIAPHRAGMATIC HERNIA 2; DIH2

236100 HOLOPROSENCEPHALY

300035 EPHRIN B1; EFNB1

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

600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B

602269 ARMADILLO REPEAT GENE DELETED IN VCFS; ARVCF

602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7

603540 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1

603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2

604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5

604906 SCHIZOPHRENIA 9; SCZD9

605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1

606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO

607340 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 2; GABBR2

607371 DYSTONIA, JUVENILE-ONSET

607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO

608005 SIL1, S. CEREVISIAE, HOMOLOG OF; SIL1

608691 MAJOR DEPRESSIVE DISORDER 2

609113 TELOMERE LENGTH, MEAN LEUKOCYTE

609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2

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

610128 CARBOHYDRATE SULFOTRANSFERASE 11; CHST11

610130 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 1; SLC26A1

Clinical Synopsis for 604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10

Clinical Synopsis for 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

May 16, 2006

New Entries:

610120 TETRASPANIN 33; TSPAN33

610121 5-@HYDROXYTRYPTAMINE RECEPTOR 3C; HTR3C

610122 5-@HYDROXYTRYPTAMINE RECEPTOR 3, SUBUNIT D; HTR3D

610123 5-@HYDROXYTRYPTAMINE RECEPTOR 3, SUBUNIT E; HTR3E

Changed Entries:

104210 ALPHA-2A-ADRENERGIC RECEPTOR; ADRA2A

104300 ALZHEIMER DISEASE; AD

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

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

142445 NEUREGULIN 1; NRG1

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

182139 5-@HYDROXYTRYPTAMINE RECEPTOR 3A; HTR3A

182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

603287 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO

604654 5-@HYDROXYTRYPTAMINE RECEPTOR 3B; HTR3B

606191 FORMIN-BINDING PROTEIN 1; FNBP1

607032 SMG1, C. ELEGANS, HOMOLOG OF

608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2

610104 MICRO RNA 125B-1; MIRN125B1

610105 MICRO RNA 125B-2; MIRN125B2

610118 G PROTEIN-COUPLED RECEPTOR 33; GPR33

610120 TETRASPANIN 33; TSPAN33

Clinical Synopsis for 162200 NEUROFIBROMATOSIS, TYPE I; NF1

May 15, 2006

New Entries:

610099 MYOPATHY, DISTAL 3; MPD3

610118 G PROTEIN-COUPLED RECEPTOR 33; GPR33

610119 ODZ, DROSOPHILA, HOMOLOG OF, 2; ODZ2

Changed Entries:

160565 MYOPATHY, TUBULAR AGGREGATE

162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE

170710 PERIPHERIN; PRPH

181500 SCHIZOPHRENIA; SCZD

204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4, AUTOSOMAL RECESSIVE; CLN4

253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A

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

601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C

602516 REGULATOR OF G PROTEIN SIGNALING 4; RGS4

603195 G PROTEIN-COUPLED RECEPTOR 32; GPR32

605386 MICRO RNA LET7A1; MIRNLET7A1

606927 TRACE AMINE-ASSOCIATED RECEPTOR 8; TAAR8

608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2

608282 TRACE AMINE-ASSOCIATED RECEPTOR 9; TAAR9

608923 TRACE AMINE-ASSOCIATED RECEPTOR 6; TAAR6

May 12, 2006

New Entries:

610100 GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT

610113 ADAMTS-LIKE 4; ADAMTSL4

610115 TRANSMEMBRANE PROTEIN 48; TMEM48

610116 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 14; P2RY14

610117 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 11; SLC26A11

Clinical Synopsis for 260660 PELVISCAPULAR DYSPLASIA

Clinical Synopsis for 608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6

Clinical Synopsis for 608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5

Changed Entries:

116806 CATENIN, BETA-1; CTNNB1

126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A

173470 INTEGRIN, BETA-3; ITGB3

174760 POLYMERASE, DNA, BETA; POLB

181500 SCHIZOPHRENIA; SCZD

182305 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 1; SLC8A1

193210 INTEGRIN, ALPHA-V; ITGAV

256850 GIANT AXONAL NEUROPATHY 1; GAN1

256851 MOVED TO 256850

260660 PELVISCAPULAR DYSPLASIA

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

600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12

601294 REMOVED FROM DATABASE

601769 VITAMIN D RECEPTOR; VDR

602516 REGULATOR OF G PROTEIN SIGNALING 4; RGS4

602746 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14

603175 SCHIZOPHRENIA 5; SCZD5

604906 SCHIZOPHRENIA 9; SCZD9

605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1

605379 GAN GENE; GAN

607032 PI3-KINASE-RELATED KINASE SMG1

607925 B- AND T-LYMPHOCYTE ATTENUATOR; BTLA

608274 PROTEIN ARGININE N-METHYLTRANSFERASE 6; PRMT6

608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6

608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5

610097 OUTER DENSE FIBER OF SPERM TAILS 4; ODF4

610100 GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT

610113 ADAMTS-LIKE 4; ADAMTSL4

Clinical Synopsis for 124200 DARIER-WHITE DISEASE; DAR

Clinical Synopsis for 169550 PELVIS-SHOULDER DYSPLASIA

Clinical Synopsis for 169600 BENIGN CHRONIC PEMPHIGUS; BCPM

Clinical Synopsis for 251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1

Clinical Synopsis for 269000 SC PHOCOMELIA SYNDROME

Clinical Synopsis for 273300 TESTICULAR TUMORS

Clinical Synopsis for 600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS

Clinical Synopsis for 608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6

May 11, 2006

New Entries:

610107 O-SIALOGLYCOPROTEIN ENDOPEPTIDASE; OSGEP

610108 TRANSMEMBRANE PROTEIN 16A; TMEM16A

610109 TRANSMEMBRANE PROTEIN 16B; TMEM16B

610110 TRANSMEMBRANE PROTEIN 16C; TMEM16C

610111 TRANSMEMBRANE PROTEIN 16D; TMEM16D

610112 C-MAF-INDUCING PROTEIN

Changed Entries:

109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

177075 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG; MAF

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300017 FILAMIN A; FLNA

300537 HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT

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

601642 INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2

602105 MutS, E. COLI, HOMOLOG OF, 4; MSH4

602452 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF;

603303 TRF1-INTERACTING, ANKYRIN-RELATED ADP-RIBOSE POLYMERASE; TNKS

603382 MutS, E. COLI, HOMOLOG OF, 5; MSH5

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

604479 SIRTUIN 1; SIRT1

604514 SH2 DOMAIN PROTEIN 2A; SH2D2A

607128 TRF1-INTERACTING ANKYRIN-RELATED ADP-RIBOSE POLYMERASE 2; TNKS2

608662 TRANSMEMBRANE PROTEIN 16E; TMEM16E

608663 TRANSMEMBRANE PROTEIN 16F; TMEM16F

610103 S100 CALCIUM-BINDING PROTEIN, ZETA; S100Z

610107 O-SIALOGLYCOPROTEIN ENDOPEPTIDASE; OSGEP

May 10, 2006

New Entries:

610098 MINICHROMOSOME MAINTENANCE DEFICIENT DOMAIN CONTAINING 1; MCMDC1

610101 CUTC COPPER TRANSPORTER, E. COLI, HOMOLOG OF; CUTC

610102 COMPLEMENT COMPONENT 7 DEFICIENCY

610103 S100 CALCIUM-BINDING PROTEIN Z; S100Z

610104 MICRO RNA 125B-1; MIRN125B1

610105 MICRO RNA 125B-2; MIRN125B2

610106 DREBRIN-LIKE; DBNL

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107741 APOLIPOPROTEIN E; APOE

109535 CD40 ANTIGEN; CD40

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

120830 COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA; C4BPA

146730 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

151990 LIPOPOLYSACCHARIDE-BINDING PROTEIN; LBP

180721 ROD OUTER SEGMENT PROTEIN 1; ROM1

192090 CADHERIN 1; CDH1

217070 COMPLEMENT COMPONENT 7; C7

225000 ROSSELLI-GULIENETTI SYNDROME

225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1

260600 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 2

273400 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND

276903 MYOSIN VIIA; MYO7A

300401 PROTEOLIPID PROTEIN 1; PLP1

312080 PELIZAEUS-MERZBACHER DISEASE; PMD

312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2

600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS

600308 AQUAPORIN 4; AQP4

600644 POLIOVIRUS RECEPTOR-LIKE 1; PVRL1

601145 CYSTATIN B; CSTB

601239 DYSTROBREVIN, ALPHA; DTNA

603273 TUMOR PROTEIN p73-LIKE; TP73L

604822 CALPAIN 11; CAPN11

604875 MYOSIN IXA; MYO9A

605128 GUANYLATE CYCLASE ACTIVATOR 1C; GUCA1C

605183 CALMODULIN-LIKE 5; CALML5

605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1

605386 MICRO RNA LET7A1; MIRNLET7A1

605566 RETICULON 4 RECEPTOR; RTN4R

605900 PDZ AND LIM DOMAIN PROTEIN 1; PDLIM1

607104 TANKYRASE 1-BINDING PROTEIN 1; TNKS1BP1

607320 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 4; RASGRP4

607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2

607851 NAKED CUTICLE, DROSOPHILA, HOMOLOG OF, 1; NKD1

607852 NAKED CUTICLE, DROSOPHILA, HOMOLOG OF, 2; NKD2

607953 NEURONAL PROTEIN, 25-KD, RAT, HOMOLOG OF

608075 PHOSPHOLIPASE C, ZETA-1; PLCZ1

608182 POTASSIUM CHANNEL-INTERACTING PROTEIN 4

608216 HYPERTENSION-RELATED CALCIUM-REGULATED GENE

608271 MICROTUBULE-ACTIN CROSS-LINKING FACTOR 1; MACF1

608738 RAB11 FAMILY-INTERACTING PROTEIN 3

608795 PHOSPHOLIPASE C, DELTA-3; PLCD3

608803 GAP JUNCTION PROTEIN, ALPHA 12; GJA12

608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1

608815 EF-HAND DOMAIN (C-TERMINAL)-CONTAINING 1; EFHC1

608965 CALCIUM-BINDING PROTEIN 4; CABP4

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

Clinical Synopsis for 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM

May 9, 2006

New Entries:

610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY

Changed Entries:

124092 INTERLEUKIN 10; IL10

146933 INTERLEUKIN 10 RECEPTOR, ALPHA; IL10RA

206920 ANOPHTHALMOS WITH LIMB ANOMALIES

240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID

251700 MICROPHTHALMIA WITH HYPERMETROPIA, RETINAL DEGENERATION, MACROPHAKIA,

300365 TOLL-LIKE RECEPTOR 7; TLR7

313700 ANDROGEN RECEPTOR; AR

600118 WARBURG MICRO SYNDROME; WARBM

600589 SERUM RESPONSE FACTOR; SRF

602536 RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1

603287 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO

604328 STRUCTURE-SPECIFIC RECOGNITION PROTEIN 1; SSRP1

607123 G PROTEIN-COUPLED RECEPTOR 73-LIKE 1; GPR73L1

May 8, 2006

Changed Entries:

126375 DNA METHYLTRANSFERASE 1; DNMT1

176806 PROSTAGLANDIN E RECEPTOR 3, EP3 SUBTYPE; PTGER3

191170 TUMOR PROTEIN p53; TP53

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1

601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A

602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7

603035 INTERLEUKIN 16; IL16

603149 INTERLEUKIN 17; IL17

603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5

604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B

605430 SPERM-ASSOCIATED ANTIGEN 9; SPAG9

May 5, 2006

New Entries:

610097 OUTER DENSE FIBER OF SPERM TAILS 4; ODF4

Clinical Synopsis for 604284 MOVED TO 137920

Changed Entries:

113995 COMPLEMENT COMPONENT 5 RECEPTOR 1; C5R1

129010 EARLY GROWTH RESPONSE 2; EGR2

135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1

141250 HEME OXYGENASE 1; HMOX1

141900 HEMOGLOBIN--BETA LOCUS; HBB

155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1

173850 POLIOVIRUS RECEPTOR; PVR

180200 RETINOBLASTOMA; RB1

182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

223610 MOVED TO 228900

263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

300338 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-2; CNGA2

300546 FGD1 GENE; FGD1

600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1

600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12

600680 MOVED TO 256730

601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C

601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR

602378 DYNAMIN 2; DNM2

602419 EARLY GROWTH RESPONSE 3; EGR3

604164 ONE CUT DOMAIN, FAMILY MEMBER 1; ONECUT1

604271 SHORT STATURE; SS

606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY

606702 PKHD1 GENE; PKHD1

607116 ALZHEIMER DISEASE 8

607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11

608206 KIAA1985

608283 KINESIN FAMILY MEMBER 21A; KIF21A

609949 G PROTEIN-COUPLED RECEPTOR 77; GPR77

Clinical Synopsis for 162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE

Clinical Synopsis for 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4, AUTOSOMAL RECESSIVE; CLN4

Clinical Synopsis for 223610 MOVED TO 228900

Clinical Synopsis for 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12

Clinical Synopsis for 600680 MOVED TO 256730

May 4, 2006

New Entries:

300546 FGD1 GENE; FGD1

610095 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC

610096 T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 4; TIMD4

Changed Entries:

102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1

107773 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 2; NR2F2

132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE

135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP

135900 COFFIN-SIRIS SYNDROME

143100 HUNTINGTON DISEASE; HD

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

147670 INSULIN RECEPTOR; INSR

151100 LEOPARD SYNDROME

151430 B-CELL CLL/LYMPHOMA 2; BCL2

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

163950 NOONAN SYNDROME 1; NS1

169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT

171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2

176730 INSULIN; INS

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

254780 MYOCLONIC EPILEPSY OF LAFORA

261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY

271900 CANAVAN DISEASE

300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1; SMC1L1

300336 NEUROLIGIN 3; NLGN3

300546 FGD1 GENE; FGD1

300590 CORNELIA DE LANGE SYNDROME, X-LINKED

302350 CATARACT-DENTAL SYNDROME

302500 CEREBELLAR ATAXIA 2; CLA2

305400 FACIOGENITAL DYSPLASIA

600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1

600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS

601415 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 2; MYBL2

601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4

601881 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX

602648 CHEMOKINE-BINDING PROTEIN 2; CCBP2

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

604515 B-CELL LINKER PROTEIN; BLNK

605164 HISTONE DEACETYLASE 2; HDAC2

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

605264 SORBIN AND SH3 DOMAIN CONTAINING 1; SORBS1

606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1

606652 HEPATITIS A VIRUS CELLULAR RECEPTOR 2; HAVCR2

607218 INTERFERON REGULATORY FACTOR 5; IRF5

607646 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7B; ZBTB7B

608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1

Clinical Synopsis for 250250 CARTILAGE-HAIR HYPOPLASIA; CHH

Clinical Synopsis for 305400 FACIOGENITAL DYSPLASIA

Clinical Synopsis for 312080 PELIZAEUS-MERZBACHER DISEASE; PMD

May 3, 2006

New Entries:

610094 DEF6, MOUSE, HOMOLOG OF; DEF6

Changed Entries:

102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1

120360 MATRIX METALLOPROTEINASE 2; MMP2

131195 ENDOGLIN; ENG

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

147660 INTERFERON, ALPHA-1; IFNA1

157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1

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

165330 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3

185860 SYNAPTIC VESICLE GLYCOPROTEIN 2A; SV2A

185861 SYNAPTIC VESICLE GLYCOPROTEIN 2B; SV2B

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

188840 TITIN; TTN

190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3

212750 CELIAC DISEASE; CD

227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT

256700 NEUROBLASTOMA

261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY

277950 WINCHESTER SYNDROME

278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

300365 TOLL-LIKE RECEPTOR 7; TLR7

600169 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE A; MICA

600181 LIPOCALIN 2; LCN2

600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2

600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2

600524 RYK RECEPTOR-LIKE TYROSINE KINASE; RYK

600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4

600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

600682 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER

601284 ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

601896 TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3

602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6

602408 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1

602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4

603030 TOLL-LIKE RECEPTOR 4; TLR4

603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1

603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

604488 TITIN-CAP; TCAP

605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B

605047 INTERFERON REGULATORY FACTOR 7; IRF7

605980 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 4; CARD4

606434 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A9; UGT1A9

609029 EMANUEL SYNDROME

609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH

609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO

610045 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1

May 2, 2006

New Entries:

610091 WD REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; WSB1

Clinical Synopsis for 300589 NYSTAGMUS 5, INFANTILE PERIODIC ALTERNATING; NYS5

Changed Entries:

102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

105850 ANGIOGENIN; ANG

107748 APEX NUCLEASE; APEX

108970 MOVED TO 120520

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

120520 MEMBRANE METALLOENDOPEPTIDASE; MME

135940 FILAGGRIN; FLG

137960 MPV17, MOUSE, HOMOLOG OF; MPV17

150340 LAMIN B1; LMNB1

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

166490 SECRETED PHOSPHOPROTEIN 1; SPP1

176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS

188400 DIGEORGE SYNDROME; DGS

191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2

192150 VALYL-tRNA SYNTHETASE; VARS

193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

212750 CELIAC DISEASE; CD

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM

270150 SJOGREN SYNDROME

600277 INHIBITOR OF DNA BINDING 3; ID3

600554 INTERLEUKIN 15; IL15

600692 TROPONIN T3, FAST SKELETAL; TNNT3

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

600953 INTERLEUKIN 18; IL18

601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH

601528 VASCULAR ENDOTHELIAL GROWTH FACTOR C; VEGFC

601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B

601881 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX

602746 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14

602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,

602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4

604095 ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR; EDAR

604137 MOVED TO 192150

606029 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 3; CPSF3

607383 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 13, YEAST, HOMOLOG OF;

607546 CD200 RECEPTOR 1; CD200R1

607925 B- AND T-LYMPHOCYTE ATTENUATOR; BTLA

Clinical Synopsis for 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

Clinical Synopsis for 605259 SPINOCEREBELLAR ATAXIA 13; SCA13

May 1, 2006

Changed Entries:

102642 STEROL O-ACYLTRANSFERASE 1; SOAT1

104240 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 4; ST3GAL4

109675 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GAL1

134370 COMPLEMENT FACTOR H; CFH

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

138470 COMPLEMENT FACTOR B; CFB

147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA

149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

156590 MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT

158250 NONDISJUNCTION

165070 FMS-RELATED TYROSINE KINASE 1; FLT1

168000 PARAGANGLIOMAS 1; PGL1

176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

208050 ARTERIAL TORTUOSITY SYNDROME; ATS

212790 PREMATURE CENTROMERE DIVISION; PCD

217000 COMPLEMENT COMPONENT 2 DEFICIENCY

251270 MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE

257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA

271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),

602115 FIBROBLAST GROWTH FACTOR 10; FGF10

602546 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 2; ST8SIA2

602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,

604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15

604402 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 5; ST3GAL5

604945 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC

605164 HISTONE DEACETYLASE 2; HDAC2

606145 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

606378 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE

606494 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3; ST3GAL3

607156 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 6; ST3GAL6

607187 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 1; ST3GAL1

607188 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 2; ST3GAL2

607218 INTERFERON REGULATORY FACTOR 5; IRF5

607546 CD200 RECEPTOR 1; CD200R1

607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1

608472 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 2; ST6GAL2