PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for October, 2004

October 29, 2004

New Entries:

608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8

609004 B-CELL CLL/LYMPHOMA 9-LIKE; BCL9L

609005 WD REPEAT-CONTAINING PROTEIN 17; WDR17

609006 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 36; DFNB36

Changed Entries:

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

102776 ADENOSINE A2 RECEPTOR; ADORA2A

104311 PRESENILIN 1; PSEN1

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1

114610 CANNABINOID RECEPTOR 1; CNR1

116806 CATENIN, BETA-1; CTNNB1

123889 INTERLEUKIN 10 RECEPTOR, BETA; IL10RB

131320 GATA-BINDING PROTEIN 3; GATA3

132900 AORTIC ANEURYSM, THORACIC

134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147781 INTERLEUKIN 4 RECEPTOR; IL4R

152430 LONGEVITY

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

173470 INTEGRIN, BETA-3; ITGB3

176635 PRIMASE POLYPEPTIDE 1; PRIM1

186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

202500 MOVED TO 600899 AND 601457

255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

300391 AMELOGENIN; AMELX

300502 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1

300509 DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9

600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

600977 CONE-ROD DYSTROPHY 5; CORD5

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

601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6

602357 WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; WASPIP

604254 DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3

604928 WOLFRAM SYNDROME 2; WFS2

605103 NEUROMEDIN U; NMU

606351 ESPIN, MOUSE, HOMOLOG OF; ESPN

606616 DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6

606896 DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5

607416 CHL1, MOUSE, HOMOLOG OF; CHL1

607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A

608091 CEREBELLOOCULORENAL SYNDROME 2; CORS2

608965 CALCIUM-BINDING PROTEIN 4; CABP4

608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8

609004 B-CELL CLL/LYMPHOMA 9-LIKE; BCL9L

Clinical Synopsis for 202500 MOVED TO 600899 AND 601457

October 28, 2004

New Entries:

608958 ADENOSINE DEAMINASE; ADA

608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

608984 ATAXIA, SENSORY, AUTOSOMAL DOMINANT

608997 WD REPEAT-CONTAINING PROTEIN 13; WDR13

608998 TUMOR-SUPPRESSING SUBTRANSFERABLE FRAGMENT CANDIDATE GENE 1; TSSC1

608999 TUMOR-SUPPRESSING SUBTRANSFERABLE FRAGMENT CANDIDATE GENE 2; TSSC2

609000 MONOOXYGENASE, DBH-LIKE, 1; MOXD1

609001 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, GAMMA; PIK3C2G

609002 TEKTIN 1; TEKT1

609003 TETRATRICOPEPTIDE REPEAT DOMAIN 11; TTC11

Changed Entries:

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

102710 ADENOSINE DEAMINASE COMPLEXING PROTEIN 1; ADCP1

102720 DIPEPTIDYL PEPTIDASE IV; DPP4

102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO

116898 CCAAT/ENHANCER-BINDING PROTEIN, DELTA; CEBPD

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

125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1

137580 GILLES DE LA TOURETTE SYNDROME; GTS

141900 HEMOGLOBIN--BETA LOCUS; HBB

142240 HEMOGLOBIN--THETA-1 LOCUS; HBQ1

146661 INTERLEUKIN 7 RECEPTOR; IL7R

147520 INOSINE TRIPHOSPHATASE; ITPA

151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC

151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1

162200 NEUROFIBROMATOSIS, TYPE I; NF1

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

164050 NUCLEOSIDE PHOSPHORYLASE; NP

172420 PHOSPHOLIPASE C, GAMMA-1; PLCG1

179615 RECOMBINATION-ACTIVATING GENE 1; RAG1

179616 RECOMBINATION-ACTIVATING GENE 2; RAG2

180200 RETINOBLASTOMA; RB1

180960 S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY

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

186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D

202500 MOVED TO 600899 AND 601457

205900 DIAMOND-BLACKFAN ANEMIA; DBA

211350 KYPHOMELIC DYSPLASIA

242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS

243150 INTESTINAL ATRESIA, MULTIPLE

265120 PULMONARY ALVEOLAR PROTEINOSIS

267500 RETICULAR DYSGENESIA

276901 USHER SYNDROME, TYPE IIA; USH2A

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD

308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG

312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX

600173 JANUS KINASE 3; JAK3

600686 KARYOPHERIN ALPHA-1; KPNA1

600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601308 MYELOID LEUKEMIA-RELATED GENE

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

601602 TRANSCRIPTION FACTOR AP2-GAMMA; TFAP2C

602025 OBESITY QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20

602131 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 2; PHLDA2

602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE;

603031 TOLL-LIKE RECEPTOR 5; TLR5

603453 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 1; RIPK1

603554 OMENN SYNDROME

603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4

603852 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE

603853 PAN-HEMATOPOIETIC EXPRESSION GENE; PHEMX

604172 CARONTE

604932 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR GAMMA; PKIG

605565 RESISTIN; RETN

605668 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 2; BACE2

605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C

606039 CHEMOKINE RECEPTOR HM74

606558 B-CELL CLL/LYMPHOMA 11B; BCL11B

607575 CAT EYE SYNDROME CHROMOSOME REGION, CANDIDATE 1; CECR1

608412 VASCULAR WALL-LINKED PROTEIN

608556 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

608561 STABILIN 2; STAB2

608958 ADENOSINE DEAMINASE; ADA

October 27, 2004

New Entries:

608996 PREMATURE OVARIAN FAILURE, AUTOSOMAL DOMINANT

Changed Entries:

104300 ALZHEIMER DISEASE; AD

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

115470 CAT EYE SYNDROME; CES

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

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

146710 INTERLEUKIN 2 RECEPTOR, BETA; IL2RB

147680 INTERLEUKIN 2; IL2

147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA

150330 LAMIN A/C; LMNA

153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3

163729 NITRIC OXIDE SYNTHASE 3; NOS3

163731 NITRIC OXIDE SYNTHASE 1; NOS1

165390 RAS HOMOLOG GENE FAMILY, MEMBER A; ARHA

168600 PARKINSON DISEASE; PD

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

180435 RIBONUCLEASE L; RNASEL

186357 SYNDECAN 3; SDC3

200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY

231090 HYDATIDIFORM MOLE

233300 PREMATURE OVARIAN FAILURE, AUTOSOMAL RECESSIVE

274190 THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY

300509 DYSLEXIA SUSCEPTIBILITY 9; DYX9

300510 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED

311360 PREMATURE OVARIAN FAILURE, X-LINKED, 1; POF1

600017 SYNDECAN 4; SDC4

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

601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1

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

601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1

602537 CALPAIN 5; CAPN5

603684 LIPASE, ENDOTHELIAL; LIPG

604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP

604254 DYSLEXIA SUSCEPTIBILITY 3; DYX3

604490 SACSIN; SACS

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7

606557 B-CELL CLL/LYMPHOMA 11A; BCL11A

606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

608996 PREMATURE OVARIAN FAILURE, AUTOSOMAL DOMINANT

October 26, 2004

New Entries:

300510 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED

300511 PREMATURE OVARIAN FAILURE, X-LINKED, 2; POF2

608994 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN

Changed Entries:

100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1

143100 HUNTINGTON DISEASE; HD

169400 PELGER-HUET ANOMALY; PHA

192968 INTEGRIN, ALPHA-1; ITGA1

233300 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE

300247 BONE MORPHOGENETIC PROTEIN 15; BMP15

300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2

300506 DELTA SLEEP-INDUCING PEPTIDE, IMMUNOREACTOR; DSIPI

311360 PREMATURE OVARIAN FAILURE, X-LINKED, 1; POF1

600024 LAMIN B RECEPTOR; LBR

600140 CREB-BINDING PROTEIN; CREBBP

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

602868 CELL DIVISION CYCLE 5, S. POMBE, HOMOLOG-LIKE; CDC5L

604277 SPG4 GENE; SPG4

604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

605638 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 6; BIRC6

607640 SCA7 GENE; SCA7

608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT

608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A

608973 SALT-INDUCIBLE SERINE/THREONINE KINASE 2

October 26, 2004

New Entries:

400041 PTPBL-RELATED GENE ON Y, 2; PRY2

608992 B-CELL LYMPHOMA 6B; BCL6B

608993 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3F;

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

133780 EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT; EVR

159540 LEUKEMIA-INHIBITORY FACTOR; LIF

162200 NEUROFIBROMATOSIS, TYPE I; NF1

162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL

173610 SELECTIN P; SELP

182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT

191044 TROPONIN I, CARDIAC; TNNI3

269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

300017 FILAMIN A; FLNA

400019 PTPBL-RELATED GENE ON Y; PRY

400041 PTPBL-RELATED GENE ON Y, 2; PRY2

600755 SYNAPSIN II; SYN2

601813 EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL RECESSIVE

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1

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

608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE

608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8

608987 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT,

Clinical Synopsis for 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP

Clinical Synopsis for 182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT

Clinical Synopsis for 601457 SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE

October 22, 2004

New Entries:

608989 RETINAL DEHYDROGENASE, EPIDERMAL, 2

608990 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

608991 MASTERMIND-LIKE 3; MAML3

Clinical Synopsis for 608367 MYOPIA 4

Changed Entries:

107680 APOLIPOPROTEIN A-I; APOA1

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

137167 GAMMA-GLUTAMYL CARBOXYLASE; GGCX

155555 MELANOCORTIN 1 RECEPTOR; MC1R

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

164160 LEPTIN; LEP

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

182900 SPHEROCYTOSIS, HEREDITARY; HS

191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3

210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY

210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY

220200 DANDY-WALKER SYNDROME; DWS

277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1

277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600237 HISTONE CELL CYCLE REGULATION DEFECTIVE, S. CEREVISIAE, HOMOLOG OF,

600589 SERUM RESPONSE FACTOR; SRF

600594 DIGEORGE SYNDROME CRITICAL REGION GENE 2; DGCR2

600608 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT,

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

601198 HYPOCALCEMIA, AUTOSOMAL DOMINANT

601199 CALCIUM-SENSING RECEPTOR; CASR

601279 DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6

601755 DIGEORGE SYNDROME CRITICAL REGION GENE 14; DGCR14

604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1

605174 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

605565 RESISTIN; RETN

606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET

607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2

607537 MASTERMIND-LIKE 2; MAML2

608367 MYOPIA 4

608990 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE

Clinical Synopsis for 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Clinical Synopsis for 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS

Clinical Synopsis for 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

Clinical Synopsis for 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

October 21, 2004

New Entries:

300509 DYSLEXIA SUSCEPTIBILITY 9

608983 CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3

608986 TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 3

608987 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT,

608988 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3

Changed Entries:

115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1

118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP

123690 CRYSTALLIN, GAMMA-D; CRYGD

131320 GATA-BINDING PROTEIN 3; GATA3

149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME

164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

176710 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT,

176790 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB

181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2

272370 SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1

277000 VAGINA, ABSENCE OF

300100 ADRENOLEUKODYSTROPHY; ALD

300144 GLUTAMATE DEHYDROGENASE 2; GLUD2

300257 GLYCOGEN STORAGE DISEASE IIb

300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5

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

600470 ZINC FINGER PROTEIN OF CEREBELLUM, 1; ZIC1

600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2

600608 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT,

600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE

601242 MICROTUBULE-ASSOCIATED PROTEINS 1A AND 1B, LIGHT CHAIN 3

602045 RING FINGER PROTEIN 1; RING1

602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1

602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2

602979 EARLY DEVELOPMENT REGULATOR 2; EDR2

605565 RESISTIN; RETN

607536 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1

607537 MASTERMIND-LIKE 2; MAML2

607554 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1

608452 PLATELET-DERIVED GROWTH FACTOR C; PDGFC

608948 ZINC FINGER PROTEIN OF CEREBELLUM, 4; ZIC4

608969 UTP14, S. CEREVISIAE, HOMOLOG OF, B

608972 TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 2

608985 RING FINGER PROTEIN 2; RNF2

October 20, 2004

New Entries:

608980 BIFID NOSE, RENAL AGENESIS, AND ANORECTAL MALFORMATIONS

608981 ACTIVIN A RECEPTOR, TYPE IC; ACVR1C

608982 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 3

608985 RING FINGER PROTEIN 2; RNF2

Changed Entries:

126375 DNA METHYLTRANSFERASE 1; DNMT1

142780 H3 HISTONE, FAMILY 2; H3F2

151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL

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

188450 THYROGLOBULIN; TG

191041 TROPONIN T1, SKELETAL, SLOW; TNNT1

191045 TROPONIN T2, CARDIAC; TNNT2

192090 CADHERIN 1; CDH1

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

215400 CHORDOMA; CHDM

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

600829 INOSITOL POLYPHOSPHATE PHOSPHATASE-LIKE 1; INPPL1

602468 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9A; PPP1R9A

602900 DNA METHYLTRANSFERASE 3B; DNMT3B

606255 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6

608035 MELANOMA, CUTANEOUS MALIGNANT, 4

608974 COMPLEMENT COMPONENT C1r-LIKE PROTEIN; C1RL

608980 BIFID NOSE, RENAL AGENESIS, AND ANORECTAL MALFORMATIONS

October 19, 2004

New Entries:

608977 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 14, YEAST, HOMOLOG OF

608978 MEACHAM SYNDROME

608979 PROTEIN PHOSPHATASE 2C, ETA ISOFORM

Changed Entries:

101400 SAETHRE-CHOTZEN SYNDROME; SCS

161650 NEBULIN; NEB

162200 NEUROFIBROMATOSIS, TYPE I; NF1

601005 TIMOTHY SYNDROME; TS

602361 GRACILE BONE DYSPLASIA

608978 MEACHAM SYNDROME

October 18, 2004

New Entries:

608975 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, BETA; PARD6B

608976 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, GAMMA; PARD6G

Changed Entries:

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

139250 GROWTH HORMONE 1; GH1

171760 ALKALINE PHOSPHATASE, LIVER; ALPL

212750 CELIAC DISEASE; CD

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600539 PROTEIN KINASE C, IOTA FORM; PRKCI

601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2

601984 NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4

602366 INTEGRIN-LINKED KINASE; ILK

602567 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 1; LIMS1

605565 RESISTIN; RETN

605645 RESISTIN-LIKE PROTEIN, BETA; RETNLB

606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3

607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A

Clinical Synopsis for 249630 MENTAL RETARDATION, BUENOS AIRES TYPE

Clinical Synopsis for 255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION

Clinical Synopsis for 259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND

October 15, 2004

New Entries:

608970 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2

608972 TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 2

608973 SALT-INDUCIBLE SERINE/THREONINE KINASE 2

608974 COMPLEMENT COMPONENT C1r-LIKE PROTEIN; C1RL

Changed Entries:

114020 CADHERIN 2; CDH2

114105 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR

139250 GROWTH HORMONE 1; GH1

140100 HAPTOGLOBIN; HP

146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

147570 INTERFERON, GAMMA; IFNG

150330 LAMIN A/C; LMNA

152423 MOVED TO 192090

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM

176270 PRADER-WILLI SYNDROME; PWS

177900 PSORIASIS SUSCEPTIBILITY

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

191160 TUMOR NECROSIS FACTOR; TNF

192090 CADHERIN 1; CDH1

210250 SITOSTEROLEMIA

219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

600022 PROSTAGLANDIN I2 RECEPTOR; PTGIR

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

600448 PROTEIN KINASE C, THETA FORM; PRKCQ

600481 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2

600524 RYK RECEPTOR-LIKE TYROSINE KINASE; RYK

601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1

602413 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN,

602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3

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

605373 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 3; PGL3

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

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

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

October 14, 2004

New Entries:

300508 UTP14, S. CEREVISIAE, HOMOLOG OF, A; UTP14A

608968 V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B;

608969 UTP14, S. CEREVISIAE, HOMOLOG OF, B

Changed Entries:

114020 CADHERIN 2; CDH2

116930 CELL ADHESION MOLECULE, NEURAL, 1; NCAM1

131320 GATA-BINDING PROTEIN 3; GATA3

133430 ESTROGEN RECEPTOR 1; ESR1

142989 HOMEOBOX D13; HOXD13

158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A

161561 INTERLEUKIN 12B; IL12B

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

166710 OSTEOPOROSIS, INVOLUTIONAL

179605 RETINAL DEGENERATION GENE, SLOW; RDS

186760 ANTIGEN CD28; CD28

191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8

194190 WOLF-HIRSCHHORN SYNDROME; WHS

202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

256100 NEPHRONOPHTHISIS 1; NPHP1

257980 ODONTOONYCHODERMAL DYSPLASIA

300499 FTSJ HOMOLOG 1; FTSJ1

309549 MENTAL RETARDATION, X-LINKED 9; MRX9

312000 PANHYPOPITUITARISM; PHP

313430 SRY-BOX 3; SOX3

601769 VITAMIN D RECEPTOR; VDR

602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1

608969 UTP14, S. CEREVISIAE, HOMOLOG OF, B

Clinical Synopsis for 210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE

Clinical Synopsis for 264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND

Clinical Synopsis for 309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS

Clinical Synopsis for 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND

Clinical Synopsis for 601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME

October 13, 2004

New Entries:

608967 AORTIC ANEURYSM, FAMILIAL THORACIC 3

Clinical Synopsis for 605809 MYASTHENIA, FAMILIAL INFANTILE, 1

Changed Entries:

102776 ADENOSINE A2 RECEPTOR; ADORA2A

114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

143100 HUNTINGTON DISEASE; HD

152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2

153440 LYMPHOTOXIN-ALPHA; LTA

185100 STRABISMUS, SUSCEPTIBILITY TO

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

254210 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA

254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL

600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

601005 LONG QT SYNDROME WITH SYNDACTYLY

601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS

601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6

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

603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD

603313 POTASSIUM CHANNEL REGULATOR 1

605809 MYASTHENIA, FAMILIAL INFANTILE, 1

606636 NACHT-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING 1; NALP1

606989 MYELOPEROXIDASE; MPO

607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1

607087 AORTIC ANEURYSM, FAMILIAL THORACIC 2

607861 DAPPER, ANTAGONIST OF BETA-CATENIN, 1; DACT1

608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

608966 DAPPER, ANTAGONIST OF BETA-CATENIN, 2; DACT2

Clinical Synopsis for 604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION

October 12, 2004

New Entries:

300507 H2B HISTONE FAMILY, MEMBER W, TESTIS-SPECIFIC; H2BFWT

608965 CALCIUM-BINDING PROTEIN 4; CABP4

608966 DAPPER, ANTAGONIST OF BETA-CATENIN, 2; DACT2

Clinical Synopsis for 603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD

Clinical Synopsis for 608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL

Clinical Synopsis for 608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

Changed Entries:

100710 CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1; CHRNB1

106150 ANGIOTENSIN I; AGT

108800 ATRIAL SEPTAL DEFECT 1; ASD1

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1

124015 CYTOCHROME P450 OXIDOREDUCTASE; POR

129190 ECTO-5-PRIME NUCLEOTIDASE; NT5E

131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1

138040 GLUCOCORTICOID RECEPTOR; GCCR

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2

165300 OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT

173360 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1

179520 RAS-RELATED PROTEIN 1A; RAP1A

179530 RAS-RELATED PROTEIN RAP1B; RAP1B

185881 VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1

220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1

222600 DIASTROPHIC DYSPLASIA

232200 GLYCOGEN STORAGE DISEASE I

256050 NEONATAL OSSEOUS DYSPLASIA I

257980 ODONTOONYCHODERMAL DYSPLASIA

258501 3-@METHYLGLUTACONICACIDURIA, TYPE III

259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE

271700 SPONDYLOPERIPHERAL DYSPLASIA

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

400008 PROTEIN KINASE, Y-LINKED; PRKY

600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2

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

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

600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER

600417 5-PRIME-@NUCLEOTIDASE, CYTOSOLIC II; NT5C2

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

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

601518 PROSTATE CANCER, HEREDITARY, 1; HPC1

601903 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17

602202 DOLICHYL-DIPHOSPHOOLIGOSACCHARIDE-PROTEIN GLYCOSYLTRANSFERASE; DDOST

602759 PREDISPOSING FOR PROSTATE CANCER; PCAP

603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY

603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB

605292 5-PRIME-@NUCLEOTIDASE, MITOCHONDRIAL; NT5M

606146 FRIZZLED, DROSOPHILA, HOMOLOG OF, 8; FZD8

606224 5-PRIME-@NUCLEOTIDASE, CYTOSOLIC III; NT5C3

606457 INHIBITOR OF BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; IBTK

606511 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1; MARK1

606580 OPTIC ATROPHY 3 GENE; OPA3

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

607314 CALCIUM-BINDING PROTEIN 2; CABP2

608962 RHOMBOID-LIKE 2; RHBDL2

Clinical Synopsis for 159400 MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE

Clinical Synopsis for 254210 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA

Clinical Synopsis for 254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL

Clinical Synopsis for 601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS

October 8, 2004

New Entries:

300506 DELTA SLEEP-INDUCING PEPTIDE, IMMUNOREACTOR; DSIPI

Changed Entries:

102520 ACRORENAL SYNDROME

120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1

124015 CYTOCHROME P450 OXIDOREDUCTASE; POR

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

134920 FIBROBLAST GROWTH FACTOR 2; FGF2

159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL

171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1

187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1

187950 THROMBOCYTHEMIA, ESSENTIAL

194200 WOLFF-PARKINSON-WHITE SYNDROME

201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17

264900 PTA DEFICIENCY

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP

600754 MATRIX METALLOPROTEINASE 14; MMP14

601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN

601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1

602231 SMALL UBIQUITIN-LIKE MODIFIER 3; SUMO3

602960 MOVED TO 300506

603042 SMALL UBIQUITIN-LIKE MODIFIER 2; SUMO2

603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE

603930 GEPHYRIN; GPH

605856 SHORT STATURE, MENTAL RETARDATION, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA,

606224 NUCLEOTIDASE, 5-PRIME, CYTOSOLIC III; NT5C3

608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

Clinical Synopsis for 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE

Clinical Synopsis for 250250 CARTILAGE-HAIR HYPOPLASIA; CHH

Clinical Synopsis for 607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL

October 7, 2004

New Entries:

608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL

608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

608962 RHOMBOID-LIKE 2; RHBDL2

608963 NUCLEAR PROTEIN IN TESTIS

608964 TATA BOX-BINDING PROTEIN-LIKE PROTEIN 2; TBPL2

Changed Entries:

100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1

100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

116952 CELL DIVISION CYCLE 42; CDC42

118490 CHOLINE ACETYLTRANSFERASE; CHAT

134530 MOVED TO 227600

136351 FMS-RELATED TYROSINE KINASE 3; FLT3

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

159400 MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE

180902 RYANODINE RECEPTOR 2; RYR2

227600 FACTOR X DEFICIENCY

254195 MOVED TO 608931

254210 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA

254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL

600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C

601253 CAVEOLIN 3; CAV3

601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601709 QUEBEC PLATELET DISORDER; QPD

602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1

603033 COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; COLQ

603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD

603177 VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8

603264 RHOMBOID-LIKE 1; RHBDL1

603621 FORKHEAD BOX H1; FOXH1

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

604311 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP

604949 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, GAMMA; GADD45G

605725 PERIAXIN; PRX

605809 MYASTHENIA, FAMILIAL INFANTILE, 1

605821 ERYTHROID-ASSOCIATED FACTOR; ERAF

608015 E2-INDUCED GENE 4

608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4

608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL

October 6, 2004

New Entries:

608960 ADP-RIBOSYLATION FACTOR-LIKE 5; ARL5

608961 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 3;

Clinical Synopsis for 300258 ROIFMAN SYNDROME

Clinical Synopsis for 604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

Clinical Synopsis for 605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2

Clinical Synopsis for 607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL

Clinical Synopsis for 608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5

Changed Entries:

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF

143100 HUNTINGTON DISEASE; HD

145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1

162010 NERVE GROWTH FACTOR RECEPTOR; NGFR

162660 NEUROTROPHIN 3; NTF3

162662 NEUROTROPHIN 5; NTF5

163890 SYNUCLEIN, ALPHA; SNCA

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3

194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS

300258 ROIFMAN SYNDROME

309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2

600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2

603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC

604311 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP

604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

604592 T CELL IMMUNE REGULATOR 1; TCIRG1

605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2

606051 DEAFNESS LOCUS-ASSOCIATED PUTATIVE GUANINE NUCLEOTIDE EXCHANGE FACTOR

608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5

608537 VHL GENE; VHL

608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

Clinical Synopsis for 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION

Clinical Synopsis for 150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN

Clinical Synopsis for 157980 MOMO SYNDROME

Clinical Synopsis for 166260 GNATHODIAPHYSEAL DYSPLASIA; GDD

Clinical Synopsis for 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE

Clinical Synopsis for 210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE

Clinical Synopsis for 213980 CEREBROFACIOTHORACIC DYSPLASIA

Clinical Synopsis for 214350 CHANDS

Clinical Synopsis for 225320 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM

Clinical Synopsis for 232400 GLYCOGEN STORAGE DISEASE III

Clinical Synopsis for 244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS

Clinical Synopsis for 250215 METAPHYSEAL ACROSCYPHODYSPLASIA

Clinical Synopsis for 250250 CARTILAGE-HAIR HYPOPLASIA; CHH

Clinical Synopsis for 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

Clinical Synopsis for 260400 SHWACHMAN-DIAMOND SYNDROME; SDS

Clinical Synopsis for 309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS

Clinical Synopsis for 604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION

Clinical Synopsis for 606812 FUMARASE DEFICIENCY

Clinical Synopsis for 608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE

October 5, 2004

New Entries:

608959 ZINC FINGER, CSL DOMAIN-CONTAINING 2; ZCSL2

Clinical Synopsis for 249630 MENTAL RETARDATION, BUENOS AIRES TYPE

Clinical Synopsis for 255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION

Clinical Synopsis for 602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME

Clinical Synopsis for 603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING

Clinical Synopsis for 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5

Clinical Synopsis for 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

Clinical Synopsis for 608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED

Clinical Synopsis for 608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE

Changed Entries:

107748 APEX NUCLEASE; APEX

126375 DNA METHYLTRANSFERASE 1; DNMT1

130590 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-1; EEF1A1

133435 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1

142780 H3 HISTONE, FAMILY 2; H3F2

147450 SUPEROXIDE DISMUTASE 1; SOD1

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

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

192090 CADHERIN 1; CDH1

249630 MENTAL RETARDATION, BUENOS AIRES TYPE

254200 MYASTHENIA GRAVIS; MG

255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION

601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A

602366 INTEGRIN-LINKED KINASE; ILK

602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME

602900 DNA METHYLTRANSFERASE 3B; DNMT3B

603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING

604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5

608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED

608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE

Clinical Synopsis for 103420 ALACRIMA, CONGENITAL

Clinical Synopsis for 164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA

Clinical Synopsis for 176240 POSTAXIAL OLIGODACTYLY, TETRAMELIC

Clinical Synopsis for 210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE

Clinical Synopsis for 224900 ECTODERMAL DYSPLASIA, ANHIDROTIC

Clinical Synopsis for 232400 GLYCOGEN STORAGE DISEASE III

Clinical Synopsis for 241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD

Clinical Synopsis for 249620 MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS,

Clinical Synopsis for 259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND

Clinical Synopsis for 264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND

Clinical Synopsis for 264480 PSEUDOTRISOMY 13 SYNDROME

Clinical Synopsis for 309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS

Clinical Synopsis for 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND

Clinical Synopsis for 601549 ALACRIMA

Clinical Synopsis for 601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD

Clinical Synopsis for 601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME

Clinical Synopsis for 601976 OTOFACIOOSSEOUS-GONADAL SYNDROME

October 4, 2004

Changed Entries:

104300 ALZHEIMER DISEASE; AD

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

107741 APOLIPOPROTEIN E; APOE

116952 CELL DIVISION CYCLE 42; CDC42

117139 CENTROMERIC PROTEIN A; CENPA

124450 D-ASPARTATE OXIDASE; DDO

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

142750 H4 HISTONE FAMILY, MEMBER N; H4FN

142780 H3 HISTONE, FAMILY 2; H3F2

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

180297 RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN; RHAG

185881 VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2

186830 CD3 ANTIGEN, EPSILON SUBUNIT; CD3E

193400 VON WILLEBRAND DISEASE

234500 HARTNUP DISORDER

600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD

601984 NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4

602812 HISTONE 1, H3C; HIST1H3C

602824 HISTONE 1, H4F; HIST1H4F

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY

605381 RHESUS BLOOD GROUP, C GLYCOPROTEIN; RHCG

607079 RHESUS BLOOD GROUP, B GLYCOPROTEIN; RHBG

607743 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2

608893 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19;

608924 FORKHEAD BOX P4; FOXP4

October 1, 2004

New Entries:

Clinical Synopsis for 604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML

153440 LYMPHOTOXIN-ALPHA; LTA

159991 MYOGENIC FACTOR 6; MYF6

173470 INTEGRIN, BETA-3; ITGB3

176270 PRADER-WILLI SYNDROME; PWS

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

192090 CADHERIN 1; CDH1

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4

601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2

601595 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 1; SMAD1

601769 VITAMIN D RECEPTOR; VDR

602931 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 6; SMAD6

602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7

603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3

603110 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 5; SMAD5

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

603755 MADH-INTERACTING PROTEIN; MADHIP

604238 SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1

604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION

605523 TRANSDUCER OF ERBB2, 1; TOB1

605568 SMAD UBIQUITINATION REGULATORY FACTOR 1; SMURF1

606102 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C

607102 WILMS TUMOR 1 GENE; WT1

607759 INTEGRIN, ALPHA-2B; ITGA2B

608949 GLYCOLIPID TRANSFER PROTEIN

Clinical Synopsis for 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Clinical Synopsis for 206920 ANOPHTHALMOS WITH LIMB ANOMALIES

October 1, 2004

New Entries:

300505 MENTAL RETARDATION, X-LINKED 84; MRX84

608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY

608954 HSV-1 STIMULATION-RELATED GENE 1

608955 TUBULIN TYROSINE LIGASE-LIKE PROTEIN 1; TTLL1

608956 THYMIC STROMAL COTRANSPORTER; TSCOT

Clinical Synopsis for 606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN

Changed Entries:

102776 ADENOSINE A2 RECEPTOR; ADORA2A

103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4; SLC25A4

103280 H19 GENE; H19

104650 AMYLASE, PANCREATIC, A; AMY2A

104700 AMYLASE, SALIVARY; AMY1

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

138280 GLUTAMINASE, PHOSPHATE-ACTIVATED; GLS

139110 CHEMOKINE, CXC MOTIF, LIGAND 2; CXCL2

139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11

147781 INTERLEUKIN 4 RECEPTOR; IL4R

152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5

152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE

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

176981 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2-LIKE 1; GNB2L1

182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3

186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB

242650 PRIMARY CILIARY DYSKINESIA; PCD

300490 SH2 DOMAIN PROTEIN 1A; SH2D1A

301500 FABRY DISEASE

600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2

600871 GROWTH FACTOR-INDEPENDENT 1; GFI1

600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ

601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6

603818 NEUREGULIN 2; NRG2

603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

604986 BRCA1-ASSOCIATED PROTEIN; BRAP

605103 NEUROMEDIN U; NMU

605725 PERIAXIN

606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN

608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4

608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1

608956 THYMIC STROMAL COTRANSPORTER; TSCOT

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

Clinical Synopsis for 256810 NAVAJO NEUROHEPATOPATHY; NN

Clinical Synopsis for 600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE

Clinical Synopsis for 600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE