PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for July, 2005

July 29, 2005

New Entries:

609376 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE

609508 RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT

609509 INTERLEUKIN 31; IL31

Changed Entries:

113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1

114019 CADHERIN 15; CDH15

114085 S100 CALCIUM-BINDING PROTEIN A10; S100A10

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1

124097 D SITE OF ALBUMIN PROMOTER-BINDING PROTEIN; DBP

300465 MOVED TO 301040

309500 RENPENNING SYNDROME 1; RENS1

600825 RAR-RELATED ORPHAN RECEPTOR A; RORA

600892 SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 2; SIM2

601933 CRYPTOCHROME 1; CRY1

601972 RAR-RELATED ORPHAN RECEPTOR B; RORB

602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1

602304 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 2; NR1D2

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

602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL

602943 RAR-RELATED ORPHAN RECEPTOR C; RORC

603219 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2

603347 NEURONAL PAS DOMAIN PROTEIN 2; NPAS2

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

603427 PERIOD, DROSOPHILA, HOMOLOG OF, 3; PER3

604256 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2

604882 NEUROGENIN 3; NEUROG3

604887 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2; MTHFD2

605327 NUCLEAR FACTOR, INTERLEUKIN 3-REGULATED; NFIL3

606200 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 3; BHLHB3

606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO

July 28, 2005

New Entries:

609505 TRIPARTITE MOTIF-CONTAINING PROTEIN 16; TRIM16

609507 TOPOISOMERASE I-BINDING ARGININE/SERINE-RICH PROTEIN; TOPORS

Changed Entries:

102642 STEROL O-ACYLTRANSFERASE 1; SOAT1

103780 ALCOHOLISM

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

114500 COLORECTAL CANCER; CRC

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

141900 HEMOGLOBIN--BETA LOCUS; HBB

142955 HOMEOBOX A1; HOXA1

142987 HOMEOBOX D1; HOXD1

160700 MYOPIA 2; MYP2

179490 RAS-ASSOCIATED PROTEIN RAB3A; RAB3A

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

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

248310 MALARIA, INTENSITY OF INFECTION IN

276901 USHER SYNDROME, TYPE IIA; USH2A

300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2

600514 REELIN; RELN

600600 EPHRIN RECEPTOR EphB1; EPHB1

600759 PRESENILIN 2; PSEN2

602402 FORKHEAD BOX C2; FOXC2

602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

603212 BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2

606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1

608358 MYOPATHY, MYOSIN STORAGE

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

July 27, 2005

New Entries:

300549 MELANOMA ANTIGEN, FAMILY A, 2B; MAGEA2B

609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1

609485 MODULATOR OF APOPTOSIS 1; MOAP1

609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA

609504 MICROSPHERULE PROTEIN 1; MCRS1

Changed Entries:

102642 STEROL O-ACYLTRANSFERASE 1; SOAT1

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107741 APOLIPOPROTEIN E; APOE

114610 CANNABINOID RECEPTOR 1; CNR1

115500 CATALASE; CAT

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

142445 NEUREGULIN 1; NRG1

147390 INHIBIN, BETA B; INHBB

147620 INTERLEUKIN 6; IL6

151670 LIPASE, HEPATIC; LIPC

154580 MANNOSIDASE, ALPHA, CLASS 2C, MEMBER 1; MAN2C1

154582 MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 1; MAN2A1

155540 MELANOCORTIN 3 RECEPTOR; MC3R

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

176640 PRION PROTEIN; PRNP

248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL

248510 MANNOSIDOSIS, BETA A, LYSOSOMAL

300173 MELANOMA ANTIGEN, FAMILY A, 2; MAGEA2

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

602544 PARKIN; PARK2

602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2

603022 E4F TRANSCRIPTION FACTOR 1; E4F1

603186 DEATH-ASSOCIATED PROTEIN 6; DAXX

603936 GROWTH/DIFFERENTIATION FACTOR 11; GDF11

605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1

606505 PIN2-INTERACTING PROTEIN 1

607002 PROKINETICIN 2; PROK2

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

July 26, 2005

New Entries:

609498 F-BOX ONLY PROTEIN 47

609499 MCF2-LIKE PROTEIN; MCF2L

609501 TUDOR AND KH DOMAINS-CONTAINING PROTEIN; TDRKH

609502 PROTOCADHERIN 21; PCDH21

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

Changed Entries:

102300 RESTLESS LEGS SYNDROME 1

104311 PRESENILIN 1; PSEN1

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

114610 CANNABINOID RECEPTOR 1; CNR1

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

127750 DEMENTIA, LEWY BODY; DLB

143100 HUNTINGTON DISEASE; HD

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

155541 MELANOCORTIN 4 RECEPTOR; MC4R

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

162640 NEUROPEPTIDE Y; NPY

163890 SYNUCLEIN, ALPHA; SNCA

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

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP

173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1

174800 MCCUNE-ALBRIGHT SYNDROME; MAS

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

232300 GLYCOGEN STORAGE DISEASE II

238300 GLYCINE DECARBOXYLASE; GLDC

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

309850 MONOAMINE OXIDASE A; MAOA

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11

602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR

603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF

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

605782 EUKARYOTIC TRANSLATION INITIATION FACTOR 5A2; EIF5A2

605899 GLYCINE ENCEPHALOPATHY; GCE

605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15

607426 COENZYME Q10 DEFICIENCY

607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3

609117 F-BOX ONLY PROTEIN 46; FBXO46

609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

609491 G PROTEIN SIGNALING MODULATOR 1; GPSM1

July 25, 2005

New Entries:

609493 SLC2A4 REGULATOR; SLC2A4RG

609494 ZINC FINGER PROTEIN 395; ZNF395

609497 LEUKOCYTE-DERIVED ARGININE AMINOPEPTIDASE

Changed Entries:

103780 ALCOHOLISM

109150 MACHADO-JOSEPH DISEASE; MJD

124092 INTERLEUKIN 10; IL10

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

126452 DOPAMINE RECEPTOR D4; DRD4

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6

137750 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1

138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

143100 HUNTINGTON DISEASE; HD

143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

163729 NITRIC OXIDE SYNTHASE 3; NOS3

176400 PRECOCIOUS PUBERTY

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

185250 MATRIX METALLOPROTEINASE 3; MMP3

188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB

191160 TUMOR NECROSIS FACTOR; TNF

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

192340 ARGININE VASOPRESSIN; AVP

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

211980 LUNG CANCER

312861 5-@HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C

600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2

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

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

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

606832 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE

607834 NEUROTICISM

July 22, 2005

New Entries:

300548 MELANOMA ANTIGEN, FAMILY H, 1; MAGEH1

609456 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE

609488 CANCER/TESTIS ANTIGEN KM-HN-1

609490 INHIBITORY CASPASE RECRUITMENT DOMAIN PROTEIN

609491 G PROTEIN SIGNALING MODULATOR 1; GPSM1

609492 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 2; RASSF2

609495 GAMETOGENETIN-BINDING PROTEIN 1, MOUSE, HOMOLOG OF

Changed Entries:

103780 ALCOHOLISM

137143 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-6; GABRA6

151001 LENTIGINOSIS, INHERITED PATTERNED

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

160900 DYSTROPHIA MYOTONICA 1

162010 NERVE GROWTH FACTOR RECEPTOR; NGFR

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

222300 WOLFRAM SYNDROME

240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC

300008 CHLORIDE CHANNEL 5; CLCN5

600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA

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

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

601199 CALCIUM-SENSING RECEPTOR; CASR

602117 NECDIN; NDN

602402 FORKHEAD BOX C2; FOXC2

603009 DYSFERLIN; DYSF

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

605354 CASPASE 1 INHIBITOR

606831 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 12; CARD12

609245 G PROTEIN SIGNALING MODULATOR 2; GPSM2

609490 INHIBITORY CASPASE RECRUITMENT DOMAIN PROTEIN

609495 GAMETOGENETIN-BINDING PROTEIN 1, MOUSE, HOMOLOG OF

July 21, 2005

New Entries:

609486 E2F-ASSOCIATED PHOSPHOPROTEIN

609487 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 2; MAP3K2

Changed Entries:

112500 BRACHYDACTYLY, TYPE A1; BDA1

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

176807 PROSTATE CANCER

181500 SCHIZOPHRENIA; SCZD

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

187500 TETRALOGY OF FALLOT

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

255125 MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE

269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

516000 COMPLEX I, SUBUNIT ND1; MTND1

600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA

600726 INDIAN HEDGEHOG; IHH

601335 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4

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

601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4

602190 EPHRIN RECEPTOR EphA7; EPHA7

602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3

603014 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 7; MAP2K7

605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC

605566 RETICULON 4 RECEPTOR; RTN4R

606158 BSCL2 GENE; BSCL2

607945 ADIPONECTIN RECEPTOR 1; ADIPOR1

607946 ADIPONECTIN RECEPTOR 2; ADIPOR2

608516 MAJOR DEPRESSIVE DISORDER; MDD

July 20, 2005

Changed Entries:

124092 INTERLEUKIN 10; IL10

125660 DESMIN; DES

133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5

138965 CHEMOKINE, CXC MOTIF, LIGAND 6; CXCL6

139110 CHEMOKINE, CXC MOTIF, LIGAND 2; CXCL2

139111 CHEMOKINE, CXC MOTIF, LIGAND 3; CXCL3

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

142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B

147310 CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10

155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1

165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3

168600 PARKINSON DISEASE; PD

174700 POLYDACTYLY, PREAXIAL IV

178400 PULMONARY EDEMA OF MOUNTAINEERS

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

182281 CHEMOKINE, CC MOTIF, LIGAND 1; CCL1

182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3

182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4

187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE

300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1

300534 MENTAL RETARDATION, X-LINKED, JARID1C-RELATED

308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED

309500 RENPENNING SYNDROME 1; RENS1

600250 CHEMOKINE, C MOTIF, LIGAND 1; XCL1

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

600324 CHEMOKINE, CXC MOTIF, LIGAND 5; CXCL5

600725 SONIC HEDGEHOG; SHH

600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B

600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2

600894 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3

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

601007 LEPTIN RECEPTOR; LEPR

601056 BCL2-RELATED PROTEIN A1; BCL2A1

601391 CHEMOKINE, CC MOTIF, LIGAND 13; CCL13

601392 CHEMOKINE, CC MOTIF, LIGAND 14; CCL14

601393 CHEMOKINE, CC MOTIF, LIGAND 15; CCL15

601394 CHEMOKINE, CC MOTIF, LIGAND 16; CCL16

601520 CHEMOKINE, CC MOTIF, LIGAND 17; CCL17

601704 CHEMOKINE, CXC MOTIF, LIGAND 9; CXCL9

601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1

601960 CHEMOKINE, CC MOTIF, LIGAND 20; CCL20

602227 CHEMOKINE, CC MOTIF, LIGAND 19; CCL19

602283 CHEMOKINE, CC MOTIF, LIGAND 8; CCL8

602390 HEMOCHROMATOSIS, JUVENILE; JH

602494 CHEMOKINE, CC MOTIF, LIGAND 23; CCL23

602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24

602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS

602565 CHEMOKINE, CC MOTIF, LIGAND 25; CCL25

602737 CHEMOKINE, CC MOTIF, LIGAND 21; CCL21

602957 CHEMOKINE, CC MOTIF, LIGAND 22; CCL22

603023 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1

603310 PHOSPHODIESTERASE 5A; PDE5A

603757 CHEMOKINE, CC MOTIF, LIGAND 18; CCL18

603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE; CCL4L

604186 CHEMOKINE, CXC MOTIF, LIGAND 14; CXCL14

604653 SOLUTE CARRIER FAMILY 40 (IRON-REGULATED TRANSPORTER), MEMBER 1; SLC40A1

604697 CHEMOKINE, CC MOTIF, LIGAND 26; CCL26

604828 CHEMOKINE, C MOTIF, LIGAND 2; XCL2

604833 CHEMOKINE, CC MOTIF, LIGAND 27; CCL27

604852 CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11

605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13

606069 HEMOCHROMATOSIS, TYPE 4; HFE4

607393 HRPT2 GENE; HRPT2

608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1

608374 HEMOJUVELIN

608955 TUBULIN TYROSINE LIGASE-LIKE PROTEIN 1; TTLL1

609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1

609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY,

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

609446 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD

609478 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 3; ST8SIA3

609484 GPI-ANCHORED METASTASIS-ASSOCIATED PROTEIN C4.4A

July 19, 2005

New Entries:

609480 ZINC FINGER PROTEIN 33A; ZNF33A

609481 ISL2 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL2

609482 BREAST CANCER MEMBRANE PROTEIN 11

609483 BREAST CANCER MEMBRANE PROTEIN 101

609484 GPI-ANCHORED METASTASIS-ASSOCIATED PROTEIN C4.4A

Changed Entries:

109170 LYMPHOCYTE ANTIGEN 117; LY117

120900 COMPLEMENT COMPONENT 5 DEFICIENCY

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5

135630 INTEGRIN, BETA-1; ITGB1

141900 HEMOGLOBIN--BETA LOCUS; HBB

142623 HIRSCHSPRUNG DISEASE

148300 KERATOCONUS 1; KTCN1

151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

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

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

173610 SELECTIN P; SELP

176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO

177200 LIDDLE SYNDROME

180300 RHEUMATOID ARTHRITIS; RA

189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1

192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1

192975 INTEGRIN, ALPHA-4; ITGA4

194521 ZINC FINGER PROTEIN 11A; ZNF11A

194522 ZINC FINGER PROTEIN 11B; ZNF11B

217300 CORNEA PLANA 2; CNA2

227100 MOVED TO 120900

245000 PAPILLON-LEFEVRE SYNDROME; PALS

250600 METATROPIC DWARFISM

300032 HELICASE 2, X-LINKED; XH2

300457 NHS GENE; NHS

302350 CATARACT-DENTAL SYNDROME

313700 ANDROGEN RECEPTOR; AR

600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA SUBUNIT; SCNN1A

600241 G PROTEIN-COUPLED RECEPTOR 3; GPR3

600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1

600576 GATA-BINDING PROTEIN 4; GATA4

600577 LIM HOMEOBOX GENE 3; LHX3

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

600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT; SCNN1G

601051 MESOTHELIN; MSLN

601280 MAB21, C. ELEGANS, HOMOLOG-LIKE 1; MAB21L1

601306 HEMATOPOIETIC CELL-SPECIFIC LYN SUBSTRATE 1; HCLS1

601852 INTERCELLULAR ADHESION MOLECULE 5; ICAM5

601999 LIM HOMEOBOX GENE 1; LHX1

602278 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4;

602407 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2

602424 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1

603288 KERATOCAN; KERA

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5

604357 MAB21, C. ELEGANS, HOMOLOG-LIKE 2; MAB21L2

604935 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 2; DMRT2

605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1

605474 TOLL-LIKE RECEPTOR 9; TLR9

605745 CYTOCHROME b REDUCTASE 1; CYBRD1

606358 ANTERIOR GRADIENT 2, XENOPUS, HOMOLOG OF; AGR2

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607346 SPINOCEREBELLAR ATAXIA 19; SCA19

607414 ZINC FINGER PROTEIN 312; ZNF312

607986 S100 CALCIUM-BINDING PROTEIN A14; S100A14

608677 MINDBOMB, DROSOPHILA, HOMOLOG OF, 1; MIB1

609479 LEUCINE ZIPPER- AND STERILE ALPHA MOTIF-CONTAINING KINASE

609482 BREAST CANCER MEMBRANE PROTEIN 11

July 18, 2005

New Entries:

609478 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 3; ST8SIA3

609479 LEUCINE ZIPPER- AND STERILE ALPHA MOTIF-CONTAINING KINASE

Changed Entries:

147920 KABUKI SYNDROME

211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL

219500 CYSTATHIONINURIA

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM

258315 OMODYSPLASIA, GENERALIZED FORM

271550 SPONDYLOENCHONDRODYSPLASIA

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

601465 DEOXYGUANOSINE KINASE; DGUOK

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

602547 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 4; ST8SIA4

607162 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 5; ST8SIA5

July 15, 2005

New Entries:

300540 UCH37-INTERACTING PROTEIN 1

609476 NEMO-LIKE KINASE; NLK

609477 FN5, PUFFERFISH, HOMOLOG OF

Changed Entries:

114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S

126060 DIHYDROFOLATE REDUCTASE; DHFR

145500 HYPERTENSION, ESSENTIAL

147571 INTERFERON-INDUCED PROTEIN IFI-15K; G1P2

167220 PACMAN DYSPLASIA

170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,

182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME

252500 MUCOLIPIDOSIS II

265800 PYCNODYSOSTOSIS

300032 HELICASE 2, X-LINKED; XH2

300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2

300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2

300540 UCH37-INTERACTING PROTEIN 1

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED

400033 TRANSDUCIN-BETA-LIKE 1, Y-LINKED; TBL1Y

601105 CATHEPSIN K; CTSK

601769 VITAMIN D RECEPTOR; VDR

602851 MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1, MOUSE, HOMOLOG OF;

604456 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 1; IFITM1

604571 BARE LYMPHOCYTE SYNDROME, TYPE I

605353 GHRELIN

605745 CYTOCHROME b REDUCTASE 1; CYBRD1

606765 THYROID PEROXIDASE; TPO

607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2

608408 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 3; DPPA3

609080 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 13; FBXL13

July 14, 2005

New Entries:

609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2

609475 A-KINASE ANCHOR PROTEIN 8-LIKE PROTEIN; AKAP8L

Changed Entries:

109480 BASIGIN; BSG

113705 BREAST CANCER 1 GENE; BRCA1

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

123840 PEPTIDYL-PROLYL ISOMERASE A; PPIA

123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB

125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III

135150 BIRT-HOGG-DUBE SYNDROME; BHD

139250 GROWTH HORMONE 1; GH1

139320 GNAS COMPLEX LOCUS; GNAS

141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE

143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,

157900 MOEBIUS SYNDROME; MBS

159440 MYELIN PROTEIN ZERO; MPZ

162360 NESCIENT HELIX LOOP HELIX 1; NHLH1

165500 OPTIC ATROPHY 1; OPA1

173800 POLAND SYNDROME

174800 MCCUNE-ALBRIGHT SYNDROME; MAS

174900 POLYPOSIS, JUVENILE INTESTINAL

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

215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

267430 RENAL TUBULAR DYSGENESIS

300032 HELICASE 2, X-LINKED; XH2

300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F

300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,

300438 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II, DEFICIENCY

301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;

309490 MOVED TO 309580

309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED

309590 MOVED TO 309580

309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD

516000 COMPLEX I, SUBUNIT ND1; MTND1

516002 COMPLEX I, SUBUNIT ND3; MTND3

516005 COMPLEX I, SUBUNIT ND5; MTND5

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

545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

556500 PARKINSON DISEASE

600116 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ

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

600946 GROWTH HORMONE RECEPTOR; GHR

601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1

602544 PARKIN; PARK2

603129 LIM DOMAIN ONLY 4; LMO4

603451 LIM DOMAIN-BINDING 1; LDB1

603680 SCA8 GENE; SCA8

603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB

604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8

605878 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7; ZBTB7

607745 SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE

608768 SPINOCEREBELLAR ATAXIA 8; SCA8

608833 CHROMOSOME 20 OPEN READING FRAME 41; C20ORF41

608894 ABELSON HELPER INTEGRATION SITE 1; AHI1

609015 TRIFUNCTIONAL PROTEIN DEFICIENCY

July 13, 2005

New Entries:

609452 MYOPATHY, MYOFIBRILLAR, ZASP-RELATED

609473 CINGULIN, XENOPUS, HOMOLOG OF; CGN

609474 NEURONAL PENTRAXIN RECEPTOR; NPTXR

Changed Entries:

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

116806 CATENIN, BETA-1; CTNNB1

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

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

138680 ALPHA-2-HS-GLYCOPROTEIN; AHSG

146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

147420 MOVED TO 601419

161560 INTERLEUKIN 12A; IL12A

161561 INTERLEUKIN 12B; IL12B

164160 LEPTIN; LEP

164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI

182920 MOVED TO 601419

192090 CADHERIN 1; CDH1

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

313700 ANDROGEN RECEPTOR; AR

600750 PENTRAXIN II, NEURONAL; NPTX2

601009 TIGHT JUNCTION PROTEIN 1; TJP1

601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED

602367 PENTRAXIN I, NEURONAL; NPTX1

602584 RETICULOCALBIN 2; RCN2

603065 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 2; NR1I2

603190 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 3;

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

605340 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 7; CYP3A7

605580 INTERLEUKIN 23-ALPHA; IL23A

605906 LIM DOMAIN-BINDING 3; LDB3

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

606669 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 5; FXYD5

607061 PROSTAGLANDIN E SYNTHASE 3; PTGES3

607560 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARHGEF2

607999 ASH1, DROSOPHILA, HOMOLOG OF

608524 INHIBITOR OF GROWTH 4; ING4

609160 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7

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

609474 NEURONAL PENTRAXIN RECEPTOR; NPTXR

July 12, 2005

New Entries:

609469 NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS

609470 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL

609471 GLUCOSIDASE, BETA, ACID 2; GBA2

609472 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-4; CNGA4

Changed Entries:

104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT

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

111300 BLOOD GROUP--MN LOCUS; MN

120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1

134100 MOVED TO 601471

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

157900 MOEBIUS SYNDROME; MBS

157910 MOVED TO 157900

162200 NEUROFIBROMATOSIS, TYPE I; NF1

173750 MOVED TO 173800 AND 157900

173800 POLAND SYNDROME

177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1

208500 ASPHYXIATING THORACIC DYSTROPHY; ATD

300082 COGNITIVE FUNCTION 1, SOCIAL; CGF1

300183 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED;

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

600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1

600746 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 1; CDX1

600747 T-BOX 2; TBX2

601471 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP1

602162 SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1

602637 SECRETED PHOSPHOPROTEIN 2; SPP2

603937 RETINITIS PIGMENTOSA 1 GENE; RP1

604169 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL

604185 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP2

604865 KRUPPEL-LIKE FACTOR 7; KLF7

606156 SENER SYNDROME

606617 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART

608193 REC8, S. POMBE, HOMOLOG OF; REC8L1

609241 SCHINDLER DISEASE, TYPE I

609435 GENE ASSOCIATED WITH RETINOID- AND INTERFERON-INDUCED MORTALITY 19

609469 NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS

609470 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL

Clinical Synopsis for 239710 ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE

Clinical Synopsis for 609162 CZECH DYSPLASIA, METATARSAL TYPE

July 11, 2005

New Entries:

609466 CLEFT PALATE, MIDFACIAL HYPOPLASIA, TRIANGULAR FACIES, AND SENSORINEURAL

609467 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 2; CCL3L2

609468 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 3; CCL3L3

Changed Entries:

114290 CAMPOMELIC DYSPLASIA

126452 DOPAMINE RECEPTOR D4; DRD4

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

142360 HEPARIN COFACTOR II; HCF2

146738 INSULIN-LIKE 3; INSL3

147620 INTERLEUKIN 6; IL6

150330 LAMIN A/C; LMNA

156569 METHYLGUANINE-DNA METHYLTRANSFERASE; MGMT

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

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

166250 OSTEOGLOPHONIC DYSPLASIA; OGD

176640 PRION PROTEIN; PRNP

176980 PROTEIN KINASE C, GAMMA; PRKCG

188550 THYROID CARCINOMA, PAPILLARY

208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE

219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL

234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1

253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C

277900 WILSON DISEASE

301500 FABRY DISEASE

301870 BIGLYCAN; BGN

601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 1; CCL3L1

601665 OBESITY

602358 HYPOCRETIN; HCRT

602516 REGULATOR OF G PROTEIN SIGNALING 4; RGS4

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

604895 T-BOX 21; TBX21

604906 SCHIZOPHRENIA 9; SCZD9

605361 SPINOCEREBELLAR ATAXIA 14; SCA14

606655 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 8; LGR8

606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B

608160 SRY-BOX 9; SOX9

608978 MEACHAM SYNDROME

609465 AL-GAZALI SYNDROME

Clinical Synopsis for 173800 POLAND SYNDROME

July 8, 2005

New Entries:

609463 MKL1/MYOCARDIN-LIKE 2; MKL2

Changed Entries:

103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

131195 ENDOGLIN; ENG

139320 GNAS COMPLEX LOCUS; GNAS

140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA

158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2

158106 CHEMOKINE, CC MOTIF, LIGAND 7; CCL7

167415 PAIRED BOX GENE 8; PAX8

173470 INTEGRIN, BETA-3; ITGB3

187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT

188470 THYROID CARCINOMA, FOLLICULAR; FTC

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601686 TELOMERASE PROTEIN COMPONENT 1; TEP1

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB

603619 FIZZY-RELATED PROTEIN, DROSOPHILA, HOMOLOG OF, 1; FZR1

605121 RRN3, S. CEREVISIAE, HOMOLOG OF; RRN3

605652 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 2; FBXL2

606078 MEGAKARYOBLASTIC LEUKEMIA 1 GENE; MKL1

607900 KINDLIN 1

609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

July 7, 2005

New Entries:

609465 AL-GAZALI SYNDROME

Changed Entries:

102490 MOVED TO 607323

103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2

104311 PRESENILIN 1; PSEN1

121010 PRO-PLATELET BASIC PROTEIN; PPBP

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

147920 KABUKI SYNDROME

153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2

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

177650 PSEUDOEXFOLIATION OF THE LENS

180380 RHODOPSIN; RHO

181031 S-ANTIGEN; SAG

181750 SCLERODERMA, FAMILIAL PROGRESSIVE

218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY

271550 SPONDYLOENCHONDRODYSPLASIA

300272 HISTONE DEACETYLASE 6; HDAC6

600172 METAL-REGULATORY TRANSCRIPTION FACTOR 1; MTF1

600721 D-2-@HYDROXYGLUTARIC ACIDURIA

601144 BRUGADA SYNDROME

601620 T-BOX 5; TBX5

602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7

602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B

602650 SPECKLE-TYPE POZ PROTEIN; SPOP

602748 DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6

602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9

603174 HOMOCYSTEINEMIA

603175 SCHIZOPHRENIA 5; SCZD5

603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1

603406 TRIPARTITE MOTIF-CONTAINING PROTEIN 24; TRIM24

603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

603619 FIZZY-RELATED PROTEIN, DROSOPHILA, HOMOLOG OF, 1; FZR1

603903 SICKLE CELL ANEMIA

605073 TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37

605121 RNA POLYMERASE I TRANSCRIPTION FACTOR RRN3, YEAST, HOMOLOG OF; RRN3

607323 DUANE-RADIAL RAY SYNDROME; DRRS

607343 SAL-LIKE 4; SALL4

607822 ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3

608980 BIFID NOSE, RENAL AGENESIS, AND ANORECTAL MALFORMATIONS

609374 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 5; CDCA5

609464 SARCOIDOSIS, EARLY-ONSET

July 6, 2005

New Entries:

609461 TRIBBLES, DROSOPHILA, HOMOLOG OF, 1; TRIB1

609462 TRIBBLES, DROSOPHILA, HOMOLOG OF, 2; TRIB2

609464 SARCOIDOSIS, EARLY-ONSET

Changed Entries:

103730 ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH3

120360 MATRIX METALLOPROTEINASE 2; MMP2

147569 INTERFERON, GAMMA, RECEPTOR 2; IFNGR2

147570 INTERFERON, GAMMA; IFNG

147670 INSULIN RECEPTOR; INSR

155541 MELANOCORTIN 4 RECEPTOR; MC4R

181000 SARCOIDOSIS

182257 PROTEINASE INHIBITOR 3; PI3

182452 SOMATOSTATIN RECEPTOR 2; SSTR2

182455 SOMATOSTATIN RECEPTOR 5; SSTR5

183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1

186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES

191164 EPHRIN A1; EFNA1

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

209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL

220600 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS

235200 HEMOCHROMATOSIS; HFE

235800 HISTIDINEMIA

255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

276880 UROCANASE DEFICIENCY

300035 EPHRIN B1; EFNB1

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

312865 SHORT STATURE HOMEOBOX; SHOX

313700 ANDROGEN RECEPTOR; AR

600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2

600733 INSULIN PROMOTER FACTOR 1; IPF1

601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1

603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6;

603695 GUANYLATE CYCLASE 1, SOLUBLE, BETA-2; GUCY1B2

603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2

604241 CD2-ASSOCIATED PROTEIN; CD2AP

604933 MutY, E. COLI, HOMOLOG OF; MUTYH

605046 UBIQUILIN 1; UBQLN1

605156 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

605163 CHEMOKINE, CXC MOTIF, RECEPTOR 6; CXCR6

605286 CALPAIN 10; CAPN10

605353 GHRELIN

605617 MOVED TO 220600

605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15

606350 APRATAXIN; APTX

607213 ORIGIN RECOGNITION COMPLEX, SUBUNIT 6, S. CEREVISIAE, HOMOLOG OF;

607426 COENZYME Q10 DEFICIENCY

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

607898 TRIBBLES, DROSOPHILA, HOMOLOG OF, 3; TRIB3

608374 HEMOJUVELIN

609245 G PROTEIN SIGNALING MODULATOR 2; GPSM2

609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

609457 HISTIDINE AMMONIA-LYASE; HAL

609459 DIGEORGE SYNDROME CRITICAL REGION GENE 6-LIKE; DGCR6L

Clinical Synopsis for 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

July 1, 2005

New Entries:

609457 HISTIDINE AMMONIA-LYASE; HAL

609459 DIGEORGE SYNDROME CRITICAL REGION GENE 6-LIKE; DGCR6L

609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Changed Entries:

108500 EPISODIC ATAXIA, TYPE 2; EA2

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

141250 HEME OXYGENASE 1; HMOX1

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

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

164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI

177800 PSEUDOPAPILLEDEMA

188350 THYMIDYLATE SYNTHETASE; TYMS

191170 TUMOR PROTEIN p53; TP53

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

211980 LUNG CANCER

235730 MOWAT-WILSON SYNDROME

235800 HISTIDINEMIA

250100 METACHROMATIC LEUKODYSTROPHY

266130 GLUTATHIONE SYNTHETASE DEFICIENCY

276880 UROCANASE DEFICIENCY

300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF,

410000 AMELOGENIN, Y-CHROMOSOMAL; AMELY

600346 POLYCOMB GROUP RING FINGER PROTEIN 2; PCGF2

600807 ASTHMA, SUSCEPTIBILITY TO

601002 GLUTATHIONE SYNTHETASE; GSS

601279 DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6

601365 DISHEVELLED 1; DVL1

601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS

601922 ANGIOPOIETIN 2; ANGPT2

603888 POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S,

606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1

607872 MONOSOMY 1p36 SYNDROME

609367 KIAA1279 GENE; KIAA1279

609457 HISTIDINE AMMONIA-LYASE; HAL

609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME