PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for February, 2006

February 28, 2006

New Entries:

609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6

Changed Entries:

120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1

124092 INTERLEUKIN 10; IL10

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

131300 CAMURATI-ENGELMANN DISEASE

136850 FUMARATE HYDRATASE; FH

148040 KERATIN 5; KRT5

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

162080 NEURAL RETINA LEUCINE ZIPPER; NRL

178500 PULMONARY FIBROSIS, IDIOPATHIC

179850 DOWLING-DEGOS DISEASE; DDD

231090 HYDATIDIFORM MOLE

276900 USHER SYNDROME, TYPE I

276903 MYOSIN VIIA; MYO7A

276904 USHER SYNDROME, TYPE IC; USH1C

300452 INHIBITOR OF GROWTH, X-LINKED; INGX

314250 DYSTONIA 3, TORSION, X-LINKED; DYT3

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

601067 USHER SYNDROME, TYPE ID; USH1D

601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12

602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2

604215 INHIBITOR OF GROWTH 2; ING2

605380 FIBROBLAST GROWTH FACTOR 23; FGF23

605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY

607130 REGULATORY ASSOCIATED PROTEIN OF MTOR

607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9

608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4

608524 INHIBITOR OF GROWTH 4; ING4

608525 INHIBITOR OF GROWTH 5; ING5

609661 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 7;

February 27, 2006

New Entries:

609932 SPERM ACROSOME-ASSOCIATED PROTEIN 4; SPACA4

609934 EARLY B-CELL FACTOR 2; EBF2

609935 EARLY B-CELL FACTOR 4

609937 CELL DIVISION CYCLE-ASSOCIATED 7; CDCA7

609938 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4D; IGSF4D

Changed Entries:

109090 SJOGREN SYNDROME ANTIGEN B; SSB

115470 CAT EYE SYNDROME; CES

118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1

120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1

148860 MOVED TO 601076

148870 MOVED TO 118100

148900 SEGMENTATION SYNDROME 1; SGM1

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

162860 NEUTROPHIL-SPECIFIC ANTIGEN 1

173800 POLAND SYNDROME

189907 TRANSCRIPTION FACTOR 2; TCF2

214300 KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE

215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED

249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME

249420 FRANK-TER HAAR SYNDROME

277000 ROKITANSKY-KUSTER-HAUSER SYNDROME

600435 CARDIOTROPHIN 1; CTF1

601076 MURCS ASSOCIATION

604215 INHIBITOR OF GROWTH 1-LIKE; ING1L

604557 ZINC FINGER PROTEIN 423; ZNF423

605686 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4; IGSF4

606702 PKHD1 GENE; PKHD1

606938 UROPORPHYRINOGEN III SYNTHASE; UROS

607493 INHIBITOR OF GROWTH 3; ING3

607554 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1

608524 INHIBITOR OF GROWTH 4; ING4

608525 INHIBITOR OF GROWTH 5; ING5

609743 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4B; IGSF4B

609933 REGENERATING ISLET-DERIVED 3-GAMMA; REG3G

609935 EARLY B-CELL FACTOR 4

609937 CELL DIVISION CYCLE-ASSOCIATED 7; CDCA7

February 24, 2006

New Entries:

609924 AMINOACYLASE 1 DEFICIENCY

609927 VACUOLAR PROTEIN SORTING 37A; VPS37A

609928 MYOSIN, HEAVY CHAIN 7B, CARDIAC MUSCLE, BETA; MYH7B

609929 MYOSIN, HEAVY CHAIN 15; MYH15

609930 MYOSIN, LIGHT CHAIN 1, SLOW, A

609931 MYOSIN LIGHT CHAIN 6, ALKALI, SMOOTH MUSCLE AND NONMUSCLE; MYL6

609933 REGENERATING ISLET-DERIVED 3-GAMMA; REG3G

Changed Entries:

104620 AMINOACYLASE 1; ACY1

114170 CALPAIN, SMALL SUBUNIT 1; CAPNS1

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2

132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4

133430 ESTROGEN RECEPTOR 1; ESR1

154700 MARFAN SYNDROME; MFS

158340 MUCIN 1, TRANSMEMBRANE; MUC1

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

160790 MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3

164160 LEPTIN; LEP

167770 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A

167771 REGENERATING ISLET-DERIVED 1-BETA; REG1B

167805 REGENERATING ISLET-DERIVED 3-ALPHA; REG3A

168500 PARIETAL FORAMINA; PFM

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

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

192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH

256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA

300126 DYSKERIN; DKC1

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600459 ARTERIAL DISSECTION WITH LENTIGINOSIS

600803 GALLBLADDER DISEASE 1; GBD1

601224 POTOCKI-SHAFFER SYNDROME

601772 H2A HISTONE FAMILY, MEMBER X; H2AFX

602102 SUPPRESSOR OF TY 5, S. CEREVISIAE, HOMOLOG OF; SUPT5H

603555 SUPPRESSOR OF TY 4, S. CEREVISIAE, HOMOLOG OF, 1; SUPT4H1

605420 ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF; ALX4

607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1

607087 AORTIC ANEURYSM, FAMILIAL THORACIC 2

607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1; MDC1

607764 3-@BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE; HSD3B7

608580 MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16

608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5

608967 AORTIC ANEURYSM, FAMILIAL THORACIC 3

609597 PARIETAL FORAMINA 2; PFM2

609918 GALLBLADDER DISEASE 2

609919 GALLBLADDER DISEASE 3

609927 VACUOLAR PROTEIN SORTING 37A; VPS37A

609933 REGENERATING ISLET-DERIVED 3-GAMMA; REG3G

February 23, 2006

New Entries:

609915 CARDIOMYOPATHY, DILATED, 1Q

609916 5-@AZACYTIDINE-INDUCED GENE 2, MOUSE, HOMOLOG OF; AZI2

609917 PRION PROTEIN-INTERACTING PROTEIN; PRNPIP

609918 GALLBLADDER DISEASE 2

609919 GALLBLADDER DISEASE 3

609920 CADHERIN 22; CDH22

609921 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 10; LRP10

609922 EH DOMAIN-BINDING PROTEIN 1; EHBP1

609923 RETINITIS PIGMENTOSA 31; RP31

609925 DIPEPTIDASE 2; DPEP2

609926 DIPEPTIDASE 3; DPEP3

Changed Entries:

102540 ACTIN, ALPHA, CARDIAC MUSCLE; ACTC

108770 ATRIAL STANDSTILL

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

150330 LAMIN A/C; LMNA

152200 APOLIPOPROTEIN(a); LPA

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

177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1

179780 DIPEPTIDASE 1; DPEP1

235800 HISTIDINEMIA

300069 CARDIOMYOPATHY, DILATED, 3A; CMD3A

300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD

300377 DYSTROPHIN; DMD

302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B

600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

600803 GALLBLADDER DISEASE 1; GBD1

600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3

602544 PARKIN; PARK2

603306 TRANSCRIPTION FACTOR 21; TCF21

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

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

604834 TANK-BINDING KINASE 1; TBK1

605704 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAPB

605890 EH DOMAIN-CONTAINING 2; EHD2

607765 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4; PFIC4

608071 SHFM3 GENE; SHFM3

609457 HISTIDINE AMMONIA-LYASE; HAL

609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2

February 22, 2006

New Entries:

609913 RETINITIS PIGMENTOSA 32; RP32

609914 AQUAPORIN 11; AQP11

Changed Entries:

108770 ATRIAL STANDSTILL

109800 BLADDER CANCER

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

172405 PHOSPHOLAMBAN; PLN

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

300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY

312865 SHORT STATURE HOMEOBOX; SHOX

600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A

601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E

601439 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9

603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1

608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O

609113 TELOMERE LENGTH, MEAN LEUKOCYTE

609789 AQUAPORIN 12A; AQP12A

609901 HARMONIN-INTERACTING, ANKYRIN REPEAT-CONTAINING PROTEIN

609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P

February 21, 2006

New Entries:

609903 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5

609906 EMBRYONAL FYN-ASSOCIATED SUBSTRATE; EFS

609907 SEMAPHORIN 3D; SEMA3D

609908 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 4;

609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P

609910 AMY1-ASSOCIATED PROTEIN EXPRESSED IN TESTIS 1

609911 HEPATOCELLULAR CARCINOMA-DOWNREGULATED MITOCHONDRIAL CARRIER PROTEIN

609912 HISTONE ACETYLTRANSFERASE MYST1; MYST1

Changed Entries:

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

116896 CUT-LIKE, 1; CUTL1

145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

159552 MYELOID CELL LEUKEMIA 1; MCL1

164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1

172405 PHOSPHOLAMBAN; PLN

176807 PROSTATE CANCER

180200 RETINOBLASTOMA; RB1

190160 THYROID HORMONE RECEPTOR, BETA; THRB

191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1

192090 CADHERIN 1; CDH1

231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY

274500 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A

275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

300069 CARDIOMYOPATHY, DILATED, 3A; CMD3A

600623 CD82 ANTIGEN; CD82

600770 MUCIN 5, SUBTYPE B, TRACHEOBRONCHIAL; MUC5B

600840 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER),

601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601408 HISTONE ACETYLTRANSFERASE MYST3; MYST3

601609 3-@HYDROXYACYL-CoA DEHYDROGENASE; HAD

601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1

602449 A-KINASE ANCHOR PROTEIN 1; AKAP1

603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR

603968 POLYMERASE, DNA, ETA; POLH

605480 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3

605880 HISTONE ACETYLTRANSFERASE MYST4; MYST4

606759 DUAL OXIDASE 2; DUOX2

606765 THYROID PEROXIDASE; TPO

606918 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 5; GOLGA5

609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR

609609 MOVED TO 231530

609893 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3

February 20, 2006

New Entries:

609899 KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 2; KREMEN2

609900 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3D;

609901 HARMONIN-INTERACTING, ANKYRIN REPEAT-CONTAINING PROTEIN

609902 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ

609904 HISTONE 1, H2BA; HIST1H2BA

609905 MYOSIN LIGHT CHAIN 9, REGULATORY; MYL9

Changed Entries:

109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2

111750 BLOOD GROUP--SCIANNA SYSTEM; SC

168461 CYCLIN D1; CCND1

176830 PROOPIOMELANOCORTIN; POMC

249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1

254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H

300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2

300189 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 3; DLG3

300573 ZINC FINGER PROTEIN 674; ZNF674

300576 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 15; ZDHHC15

300577 MENTAL RETARDATION, X-LINKED 91; MRX91

314995 ZINC FINGER PROTEIN 41; ZNF41

600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A

601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1

602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10

602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32

602853 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, R; PTPRR

606596 FUKUTIN-RELATED PROTEIN; FKRP

606709 PROTEASE, SERINE, 12; PRSS12

607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I

607417 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A; MRT2A

608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4

608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3

609017 ERYTHROBLAST MEMBRANE-ASSOCIATED PROTEIN; ERMAP

609898 KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 1; KREMEN1

Clinical Synopsis for 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE

February 17, 2006

New Entries:

300576 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 15; ZDHHC15

300577 MENTAL RETARDATION, X-LINKED 88; MRX88

609893 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3

609894 UNC13, C. ELEGANS, HOMOLOG OF, A; UNC13A

609895 SURVIVAL-RELATED GENE

609896 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 3; EIF4E3

609897 EPIDERMAL GROWTH FACTOR-LIKE 8; EGFL8

609898 KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 1; KREMEN1

Changed Entries:

102574 ACTININ, ALPHA-3; ACTN3

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

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

133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E

148760 KINESIN FAMILY MEMBER 11; KIF11

167415 PAIRED BOX GENE 8; PAX8

181500 SCHIZOPHRENIA; SCZD

214800 CHARGE SYNDROME

218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3

300104 GDP DISSOCIATION INHIBITOR 1; GDI1

300127 OLIGOPHRENIN 1; OPHN1

300220 CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR

300238 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11

300405 RAS-LIKE GTPase GENE

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

301200 AMELOGENESIS IMPERFECTA 1, HYPOPLASTIC TYPE; AIH1

309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12

600018 OPIOID RECEPTOR, MU-1; OPRM1

600568 NEUROLIGIN 1; NLGN1

600725 SONIC HEDGEHOG; SHH

600895 PROLACTIN-RELEASING HORMONE RECEPTOR; PRLHR

600979 LYMPHOTOXIN B RECEPTOR; LTBR

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602663 PROLACTIN-RELEASING HORMONE; PRLH

602943 RAR-RELATED ORPHAN RECEPTOR C; RORC

603029 TOLL-LIKE RECEPTOR 3; TLR3

603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR

603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1

605106 ENDOTHELIAL DIFFERENTIATION GENE 7; EDG7

605895 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 2; EIF4E2

606111 MELANIN-CONCENTRATING HORMONE RECEPTOR 2; MCHR2

606597 PAIRED BOX GENE 3; PAX3

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

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

607799 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 17; ZDHHC17

608582 EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7

608784 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8

609235 BR SERINE/THREONINE KINASE 1; BRSK1

609236 BR SERINE/THREONINE KINASE 2; BRSK2

February 16, 2006

New Entries:

300575 RIPPLY1, ZEBRAFISH, HOMOLOG OF

609890 RETINOBLASTOMA-ASSOCIATED FACTOR 600

609891 CHROMOSOME 6 OPEN READING FRAME 59; C6ORF59

609892 DOWN SYNDROME CRITICAL REGION GENE 6; DSCR6

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

125265 RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5

135820 FIBULIN 1; FBLN1

138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

138800 GOITER, MULTINODULAR 1; MNG1

140300 HASHIMOTO THYROIDITIS

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

147891 SMALL PATELLA SYNDROME; SPS

150205 LACTOPEROXIDASE; LPO

161200 NAIL-PATELLA SYNDROME; NPS

167415 PAIRED BOX GENE 8; PAX8

188450 THYROGLOBULIN; TG

192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH

203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2

213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1

224690 EAR, PATELLA, SHORT STATURE SYNDROME

242650 PRIMARY CILIARY DYSKINESIA; PCD

264800 PSEUDOXANTHOMA ELASTICUM; PXE

274400 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1

274500 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A

274600 PENDRED SYNDROME; PDS

274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4

274900 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5

300365 TOLL-LIKE RECEPTOR 7; TLR7

300366 TOLL-LIKE RECEPTOR 8; TLR8

312750 RETT SYNDROME; RTT

314600 WILDERVANCK SYNDROME

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1

600721 D-2-@HYDROXYGLUTARIC ACIDURIA

601070 INTERLEUKIN 15 RECEPTOR, ALPHA; IL15RA

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

601597 B-CELL TRANSLOCATION GENE 2; BTG2

601661 UBIQUITIN-CONJUGATING ENZYME E2I; UBE2I

601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5

602007 V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG-LIKE; CRKL

602054 T-BOX 1; TBX1

602394 NUCLEOLAR AND COILED-BODY PHOSPHOPROTEIN 1; NOLC1

602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

604456 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 1; IFITM1

605474 TOLL-LIKE RECEPTOR 9; TLR9

605579 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 3; IFITM3

606368 APOLIPOPROTEIN A-V; APOA5

606759 DUAL OXIDASE 2; DUOX2

606765 THYROID PEROXIDASE; TPO

606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4

607200 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6

608818 NETRIN G1; NTNG1

609186 D-2-@HYDROXYGLUTARATE DEHYDROGENASE

609890 RETINOBLASTOMA-ASSOCIATED FACTOR 600

February 15, 2006

New Entries:

609790 ALZHEIMER DISEASE 11

609889 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE

Changed Entries:

104300 ALZHEIMER DISEASE; AD

104311 PRESENILIN 1; PSEN1

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

120520 MEMBRANE METALLOENDOPEPTIDASE; MME

134370 COMPLEMENT FACTOR H; CFH

150330 LAMIN A/C; LMNA

153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1

163800 SICK SINUS SYNDROME, AUTOSOMAL DOMINANT

168600 PARKINSON DISEASE; PD

176640 PRION PROTEIN; PRNP

179615 RECOMBINATION-ACTIVATING GENE 1; RAG1

186711 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 7; TNFRSF7

200150 CHOREOACANTHOCYTOSIS; CHAC

600759 PRESENILIN 2; PSEN2

600800 NGFIA-BINDING PROTEIN; NAB1

600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12

600953 INTERLEUKIN 18; IL18

600970 MYOSIN VI; MYO6

601203 INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1

601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1

601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6

602381 NGFIA-BINDING PROTEIN 2; NAB2

602840 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 7; TNFSF7

604974 SRY-BOX 21; SOX21

605055 ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND

605206 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL

605482 GLUTATHIONE S-TRANSFERASE, OMEGA-1

605632 SOLUTE CARRIER FAMILY 35 (UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER

605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15

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

607299 DELTA- AND NOTCH-LIKE EPIDERMAL GROWTH FACTOR-RELATED RECEPTOR

607413 ALZHEIMER DISEASE NEURONAL THREAD PROTEIN

608678 CHROMOSOME 9 OPEN READING FRAME 26; C9ORF26

609058 METHYLMALONYL-CoA MUTASE; MUT

609496 NEPHROPATHY, CHRONIC HYPOCOMPLEMENTEMIC

February 14, 2006

New Entries:

609888 LEPROSY, SUSCEPTIBILITY TO, 1

Changed Entries:

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107400 PROTEASE INHIBITOR 1; PI

120577 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, RECEPTOR 1; C1QR1

125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT

125860 NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1

128990 EARLY GROWTH RESPONSE 1; EGR1

137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG

138040 GLUCOCORTICOID RECEPTOR; GCCR

138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

184850 STIFF-PERSON SYNDROME; SPS

211980 LUNG CANCER

241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

246300 LEPROSY, SUSCEPTIBILITY TO

600421 GLYCINE RECEPTOR, ALPHA-3 SUBUNIT; GLRA3

600807 ASTHMA, SUSCEPTIBILITY TO

602079 TRIMETHYLAMINURIA

602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP

603028 TOLL-LIKE RECEPTOR 2; TLR2

603481 PROTEASOME 26S SUBUNIT, NON-ATPase, 13; PSMD13

604156 SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1

605466 SIGNAL REGULATORY PROTEIN, GAMMA; SIRPG

605632 SOLUTE CARRIER FAMILY 35 (UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER

606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4

607572 LEPROSY, SUSCEPTIBILITY TO, 2

607688 PARKINSON DISEASE 11; PARK11

608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609044 G PROTEIN-COUPLED RECEPTOR 120; GPR120

609326 MICRO RNA 1

609826 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER

609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G

Clinical Synopsis for 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

February 13, 2006

New Entries:

300574 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3

609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G

Changed Entries:

100800 ACHONDROPLASIA; ACH

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

109480 BASIGIN; BSG

120361 MATRIX METALLOPROTEINASE 9; MMP9

120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G

147310 CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10

147683 INTERLEUKIN 13; IL13

149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD

154600 MARCUS GUNN PHENOMENON

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176942 FPS/FES-RELATED TYROSINE KINASE; FER

181270 SCALP-EAR-NIPPLE SYNDROME

218040 COSTELLO SYNDROME

226750 KOHLSCHUTTER-TONZ SYNDROME

300292 FORKHEAD BOX P3; FOXP3

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600635 THYROID TRANSCRIPTION FACTOR 1; TITF1

600894 MOVED TO 300574

601046 MATRIX METALLOPROTEINASE 12; MMP12

601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11

601268 CHEMOKINE, CC MOTIF, RECEPTOR 3; CCR3

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24

602737 CHEMOKINE, CC MOTIF, LIGAND 21; CCL21

603028 TOLL-LIKE RECEPTOR 2; TLR2

603030 TOLL-LIKE RECEPTOR 4; TLR4

603383 GLAUCOMA 1, OPEN ANGLE, F; GLC1F

603815 KINESIN FAMILY MEMBER 25; KIF25

604836 CHEMOKINE, CC MOTIF, RECEPTOR 4; CCR4

604852 CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11

605064 KINESIN FAMILY MEMBER 23; KIF23

605526 ALZHEIMER DISEASE 6

605714 AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, IOWA TYPE

607323 DUANE-RADIAL RAY SYNDROME; DRRS

607343 SAL-LIKE 4; SALL4

607667 CATENIN, ALPHA-3; CTNNA3

609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE; HCHWAD

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

609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36

609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G

February 10, 2006

New Entries:

609885 ELONGATION FACTOR, RNA POLYMERASE II, 3; ELL3

609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA

Changed Entries:

104310 ALZHEIMER DISEASE 2

143054 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 2; HIVEP2

146660 INTERLEUKIN 7; IL7

180460 RIBOSOMAL PROTEIN S6; RPS6

191845 UROMODULIN; UMOD

194540 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 1; HIVEP1

212750 CELIAC DISEASE; CD

248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME

600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1

600556 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2

601620 T-BOX 5; TBX5

601874 ELONGATION FACTOR, RNA POLYMERASE II, 2; ELL2

602096 ALZHEIMER DISEASE 5

602836 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 5; P2RX5

603623 TYROSYL-tRNA SYNTHETASE; YARS

603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2

603986 REMOVED FROM DATABASE

605526 ALZHEIMER DISEASE 6

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

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

606649 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 3; HIVEP3

606889 ALZHEIMER DISEASE 4

607343 SAL-LIKE 4; SALL4

607822 ALZHEIMER DISEASE 3

608112 TRAFFICKING PROTEIN, KINESIN-BINDING 1; TRAK1

608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C

608907 ALZHEIMER DISEASE 9

Clinical Synopsis for 249000 MECKEL SYNDROME, TYPE 1; MKS1

February 9, 2006

New Entries:

609882 METAL-REGULATORY TRANSCRIPTION FACTOR 2; MTF2

609883 MKS1 GENE; MKS1

609884 TRANSMEMBRANE PROTEIN 67; TMEM67

Changed Entries:

101200 APERT SYNDROME

103950 ALPHA-2-MACROGLOBULIN; A2M

110300 ABO BLOOD GROUP; ABO

125590 DERMATOGLYPHICS--FINGERPRINT PATTERN

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

137920 GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE

146710 INTERLEUKIN 2 RECEPTOR, BETA; IL2RB

154700 MARFAN SYNDROME; MFS

187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5

188060 THROMBOSPONDIN I; THBS1

189907 TRANSCRIPTION FACTOR 2; TCF2

223000 LACTASE DEFICIENCY, CONGENITAL

229850 FRYNS SYNDROME; FRNS

249000 MECKEL SYNDROME, TYPE 1; MKS1

600074 CD24 ANTIGEN; CD24

600224 SPINOCEREBELLAR ATAXIA 5; SCA5

600554 INTERLEUKIN 15; IL15

600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601241 HISTONE DEACETYLASE 1; HDAC1

601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88

603028 TOLL-LIKE RECEPTOR 2; TLR2

603030 TOLL-LIKE RECEPTOR 4; TLR4

603202 LACTASE; LCT

604985 SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2

605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

607361 MECKEL SYNDROME, TYPE 3; MKS3

609740 PHD FINGER PROTEIN 19; PHF19

February 8, 2006

New Entries:

300573 ZINC FINGER PROTEIN 674; ZNF674

609881 RNA POLYMERASE II POLYPEPTIDE J-RELATED GENE

Changed Entries:

119530 OROFACIAL CLEFT 1; OFC1

142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

159559 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 4; MLLT4

219700 CYSTIC FIBROSIS; CF

223000 LACTASE DEFICIENCY, CONGENITAL

601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,

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

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

603202 LACTASE; LCT

605526 ALZHEIMER DISEASE 6

606187 ALZHEIMER DISEASE 7

607116 ALZHEIMER DISEASE 8

607474 HOMOGENTISATE 1,2-DIOXYGENASE; HGD

608907 ALZHEIMER DISEASE 9

609636 ALZHEIMER DISEASE 10

609881 RNA POLYMERASE II POLYPEPTIDE J-RELATED GENE

February 7, 2006

New Entries:

609879 SPERMATOGENESIS-ASSOCIATED PROTEIN 4; SPATA4

609880 HISTONE ACETYLTRANSFERASE MYST2; MYST2

Changed Entries:

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

141900 HEMOGLOBIN--BETA LOCUS; HBB

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

187601 THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

187700 THIOREDOXIN; TXN

191160 TUMOR NECROSIS FACTOR; TNF

600970 MYOSIN VI; MYO6

601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4

601803 PALLISTER-KILLIAN SYNDROME; PKS

601985 COILED-COIL DOMAIN-CONTAINING 6; CCDC6

602533 ONCOGENE DJ1

605152 COILED-COIL DOMAIN-CONTAINING 19; CCDC19

606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP

607047 ATAXIN 3; ATXN3

607238 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 1; COMMD1

607566 EPM2A GENE; EPM2A

607640 ATAXIN 7; ATXN7

February 6, 2006

New Entries:

300572 G PROTEIN-COUPLED RECEPTOR 64; GPR64

609877 CRYSTALLIN, LAMBDA-1; CRYL1

609878 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 9, S. CEREVISIAE,

Changed Entries:

100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT

103710 ALCOHOL DEHYDROGENASE 5, CHI POLYPEPTIDE; ADH5

107269 CD44 ANTIGEN; CD44

114480 BREAST CANCER

118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1

118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1

118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

118930 SECRETOGRANIN II; SCG2

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

133430 ESTROGEN RECEPTOR 1; ESR1

142360 HEPARIN COFACTOR II; HCF2

145650 RESISTANCE TO THYROID HORMONE, SELECTIVE PITUITARY; PRTH

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

147450 SUPEROXIDE DISMUTASE 1; SOD1

147780 INTERLEUKIN 4; IL4

147791 JACOBSEN SYNDROME; JBS

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

159440 MYELIN PROTEIN ZERO; MPZ

162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL

162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP

164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1

166945 NEIGHBOR OF BRCA1 GENE 1; NBR1

176610 PROFILIN 1; PFN1

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

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

182450 SOMATOSTATIN; SST

182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1

185520 SURFACE ANTIGEN 6; S6

188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH

188840 TITIN; TTN

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

190160 THYROID HORMONE RECEPTOR, BETA; THRB

200600 ACHONDROGENESIS, TYPE IA; ACG1A

208080 ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,

232700 GLYCOGEN STORAGE DISEASE VI

243800 JOHANSON-BLIZZARD SYNDROME; JBS

263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD

270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS

274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH

276903 MYOSIN VIIA; MYO7A

300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2

300395 THO COMPLEX, SUBUNIT 2; THOC2

306000 GLYCOGEN STORAGE DISEASE VIII

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

310490 COWCHOCK SYNDROME

600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A

600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600635 THYROID TRANSCRIPTION FACTOR 1; TITF1

600666 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3

600725 SONIC HEDGEHOG; SHH

600807 ASTHMA, SUSCEPTIBILITY TO

600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A

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

601253 CAVEOLIN 3; CAV3

601556 ATAXIN 1; ATXN1

601852 INTERCELLULAR ADHESION MOLECULE 5; ICAM5

602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8

602657 MOVED TO 300572

602666 MYOSIN XVA; MYO15A

602738 KARYOPHERIN BETA-1; KPNB1

602943 RAR-RELATED ORPHAN RECEPTOR C; RORC

603046 TRANSLOCATION IN RENAL CARCINOMA ON CHROMOSOME 8

603172 UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C

603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF

603830 LONG QT SYNDROME 3; LQT3

604110 G PROTEIN-COUPLED RECEPTOR 56; GPR56

604264 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3

604479 SIRTUIN 1; SIRT1

604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;

604700 TARGET OF MYB1, CHICKEN, HOMOLOG OF; TOM1

604850 COP9, SUBUNIT 5; COPS5

605386 MICRO RNA LET7A1; MIRNLET7A1

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1

606004 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN

606270 TOLL-LIKE RECEPTOR 10; TLR10

606543 HISTONE DEACETYLASE 9; HDAC9

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

606929 THO COMPLEX, SUBUNIT 3; THOC3

606930 THO COMPLEX, SUBUNIT 1; THOC1

607265 EPSIN 4

607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E

607812 CRANIOLENTICULOSUTURAL DYSPLASIA

607902 RNA, U TRANSPORTER 1; RNUT1

608537 VHL GENE; VHL

608880 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 16; ZFYVE16

608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA;

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

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

609415 CHROMOSOME 13 OPEN READING FRAME 25; C13ORF25

609416 MICRO RNA 17; MIRN17

609417 MICRO RNA 18; MIRN18

609418 MICRO RNA 19A; MIRN19A

609419 MICRO RNA 19B1; MIRN19B1

609420 MICRO RNA 20; MIRN20

609422 MICRO RNA 92-1; MIRN92-1

609504 MICROSPHERULE PROTEIN 1; MCRS1

609692 WASP-INTERACTING PROTEIN-RELATED PROTEIN

609722 PDZ AND LIM DOMAIN PROTEIN 2; PDLIM2

609876 BONE MINERAL DENSITY VARIATION 6; BMND6

609878 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 9, S. CEREVISIAE,

Clinical Synopsis for 148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL

February 2, 2006

New Entries:

609875 ATONAL, DROSOPHILA, HOMOLOG OF, 7; ATOH7

609876 BONE MINERAL DENSITY VARIATION 6; BMND6

Changed Entries:

107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

117550 SOTOS SYNDROME

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

138079 GLUCOKINASE; GCK

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

144110 HYPERHIDROSIS PALMARIS ET PLANTARIS

148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL

164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2

172420 PHOSPHOLIPASE C, GAMMA-1; PLCG1

176915 PROTEIN PHOSPHATASE 2A, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA

178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB

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

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

186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

218040 COSTELLO SYNDROME

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

300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600253 ARYL HYDROCARBON RECEPTOR; AHR

601179 RAS-RELATED NUCLEAR PROTEIN; RAN

601451 NEVO SYNDROME

601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3

601772 H2A HISTONE FAMILY, MEMBER X; H2AFX

601884 BONE MINERAL DENSITY VARIATION 1; BMND1

602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1

602345 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3;

603135 CULLIN 2; CUL2

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10

603936 GROWTH/DIFFERENTIATION FACTOR 11; GDF11

603968 POLYMERASE, DNA, ETA; POLH

606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2

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

606350 APRATAXIN; APTX

606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX

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

607198 TYROSYL-DNA PHOSPHODIESTERASE 1; TDP1

607250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY;

607414 ZINC FINGER PROTEIN 312; ZNF312

607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

607599 RETINOL DEHYDROGENASE 10; RDH10

607699 RING FINGER PROTEIN 20; RNF20

608165 PTB DOMAIN-CONTAINING ENGULFMENT ADAPTOR PROTEIN 1; GULP1

609656 BONE SIZE QUANTITATIVE TRAIT LOCUS 1

609825 COQ2, S. CEREVISIAE, HOMOLOG OF; COQ2

February 1, 2006

New Entries:

609871 TBC1 DOMAIN FAMILY, MEMBER 2; TBC1D2

Changed Entries:

120361 MATRIX METALLOPROTEINASE 9; MMP9

179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1

208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;

253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

600140 CREB-BINDING PROTEIN; CREBBP

601436 S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2

602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B

602700 E1A-BINDING PROTEIN, 300-KD; EP300

606948 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 5; ANAPC5

606949 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; ANAPC7

607426 COENZYME Q10 DEFICIENCY

609825 COQ2, S. CEREVISIAE, HOMOLOG OF; COQ2

February 1, 2006

New Entries:

300571 HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE

609873 INTELECTIN 1; ITLN1

609874 INTELECTIN 2; ITLN2

Changed Entries:

105200 AMYLOIDOSIS, FAMILIAL VISCERAL

107741 APOLIPOPROTEIN E; APOE

122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1

123831 CYCLIN-DEPENDENT KINASE 5; CDK5

125660 DESMIN; DES

138300 GLUTATHIONE REDUCTASE; GSR

138750 GLYOXALASE I; GLO1

142963 HOMEOBOX B8; HOXB8

151410 BREAKPOINT CLUSTER REGION; BCR

154050 MAJOR INTRINSIC PROTEIN OF LENS FIBER; MIP

164020 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN C; HNRPC

164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1

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

300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3

300571 HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE

600840 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER),

601090 FORKHEAD BOX C1; FOXC1

602544 PARKIN; PARK2

602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1

604403 FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3

604465 SH3 DOMAIN, GRB2-LIKE, 2; SH3GL2

607117 MCPH1 GENE; MCPH1

607834 NEUROTICISM

608632 MICRO RNA 196A1; MIRN196A1

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609287 SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B1; SH3GLB1

609463 MKL1/MYOCARDIN-LIKE 2; MKL2