PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for April, 2003

April 30, 2003

New Entries:

300435 PROGESTERONE RECEPTOR MEMBRANE COMPONENT 1; PGRMC1

607733 SCRIBBLE, DROSOPHILA, HOMOLOG OF

607735 PROGESTERONE RECEPTOR MEMBRANE COMPONENT 2; PGRMC2

607737 FIBROBLAST GROWTH FACTOR-BINDING PROTEIN 1

607738 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 2;

Changed Entries:

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

114021 CADHERIN 3; CDH3

124092 INTERLEUKIN 10; IL10

126375 DNA METHYLTRANSFERASE 1; DNMT1

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

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141900 HEMOGLOBIN--BETA LOCUS; HBB

142250 HEMOGLOBIN, GAMMA G; HBG2

142461 HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2

150330 LAMIN A/C; LMNA

154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

154700 MARFAN SYNDROME; MFS

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

176830 PROOPIOMELANOCORTIN; POMC

185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB

186810 T-CELL ANTIGEN RECEPTOR, DELTA SUBUNIT; TCRD

191160 TUMOR NECROSIS FACTOR; TNF

193670 WHIM SYNDROME

235200 HEMOCHROMATOSIS; HFE

246700 CHYLOMICRON RETENTION DISEASE; CMRD

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

300336 NEUROLIGIN 3; NLGN3

300425 AUTISM, X-LINKED

300427 NEUROLIGIN 4; NLGN4

301500 FABRY DISEASE

304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED

600287 GLYCYL-tRNA SYNTHETASE; GARS

600472 DEFENSIN, ALPHA, 5; DEFA5

600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV

600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS

601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A

601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D

601546 PROSPERO-RELATED HOMEO BOX 1; PROX1

601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD

602075 SPECIAL AT-RICH SEQUENCE BINDING PROTEIN 1; SATB1

602951 ZINC FINGER PROTEIN 37, MOUSE, HOMOLOG OF; ZFP37

604173 NAVAJO POIKILODERMA

604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1

604657 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 5; TM4SF5

604969 SRC FAMILY-ASSOCIATED PHOSPHOPROTEIN 1; SCAP1

606224 NUCLEOTIDASE, 5-PRIME, CYTOSOLIC III; NT5C3

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

606682 HPS4 GENE; HPS4

606726 SOLUTE CARRIER FAMILY 12, MEMBER 5; SLC12A5

607689 ANDERSON DISEASE

607690 SAR1A, S. CEREVISIAE, HOMOLOG 2; SARA2

607691 SAR1A, S. CEREVISIAE, HOMOLOG 1; SARA1

607692 CHYLOMICRON RETENTION DISEASE WITH MARINESCO-SJOGREN SYNDROME

607713 KILLER-SPECIFIC SECRETORY PROTEIN, 37-KD

607724 CALCYPHOSINE 2; CAPS2

April 29, 2003

New Entries:

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

607728 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2

607729 REGULATED IN DEVELOPMENT AND DNA DAMAGE RESPONSES 1

607730 REGULATED IN DEVELOPMENT AND DNA DAMAGE RESPONSES 2

607732 STERILE ALPHA AND HEAT/ARMADILLO MOTIFS-CONTAINING PROTEIN

Changed Entries:

113200 BRACHYDACTYLY, TYPE D; BDD

113300 BRACHYDACTYLY, TYPE E; BDE

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

118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A; CMT2A

129010 EARLY GROWTH RESPONSE 2; EGR2

142989 HOMEO BOX D13; HOXD13

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

147740 INTERLEUKIN 3; IL3

147880 INTERLEUKIN 6 RECEPTOR; IL6R

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD; MTP

158580 MOTOR NEURONOPATHY, DISTAL HEREDITARY, WITH VOCAL CORD PARALYSIS

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL

162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL

162400 NEUROPATHY, HEREDITARY SENSORY, TYPE I; HSN1

163890 SYNUCLEIN, ALPHA; SNCA

167416 PAIRED BOX GENE 9; PAX9

175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1

190195 TRANSGLUTAMINASE 1; TGM1

201300 ACROOSTEOLYSIS, NEUROGENIC

218090 CRANE-HEISE SYNDROME

223900 DYSAUTONOMIA, FAMILIAL; DYS

300114 MENTAL RETARDATION, X-LINKED 49; MRX49

600181 LIPOCALIN 2; LCN2

600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

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

600923 PROTOPORPHYRINOGEN OXIDASE; PPOX

601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D

602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7

602302 HAIRLESS, MOUSE, HOMOLOG OF; HR

602400 ICHTHYOSIS, FOLLICULAR ATROPHODERMA, HYPOTRICHOSIS, AND HYPOHIDROSIS

603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; MADH3

604001 A-KINASE ANCHOR PROTEIN 9; AKAP9

604384 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1

605242 USH1C GENE; USH1C

605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1

605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

605995 KINESIN FAMILY MEMBER 1B; KIF1B

606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC

606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F

607524 RING FINGER PROTEIN 39; RNF39

607606 KERATIN 9; KRT9

607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY

April 28, 2003

New Entries:

607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY

607724 CALCYPHOSINE 2; CAPS2

607725 ADP-RIBOSYLTRANSFERASE-LIKE 2; ADPRTL2

607726 ADP-RIBOSYLTRANSFERASE-LIKE 3; ADPRTL3

607727 TBP-INTERACTING PROTEIN, 120-KD, A

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

148040 KERATIN 5; KRT5

148067 KERATIN 16; KRT16

148069 KERATIN 17; KRT17

164761 RET PROTOONCOGENE; RET

167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70

180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA

190195 TRANSGLUTAMINASE 1; TGM1

194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD

218040 COSTELLO SYNDROME

251260 NIJMEGEN BREAKAGE SYNDROME

252940 MUCOPOLYSACCHARIDOSIS TYPE IIID

300046 MENTAL RETARDATION, X-LINKED 23; MRX23

300047 MENTAL RETARDATION, X-LINKED 20; MRX20

300062 MENTAL RETARDATION, X-LINKED 14; MRX14

300077 MENTAL RETARDATION, X-LINKED 29; MRX29

300114 MENTAL RETARDATION, X-LINKED TYPE 49; MRX49

300115 MENTAL RETARDATION, X-LINKED 50; MRX50

300142 p21-ACTIVATED KINASE 3; PAK3

300210 MENTAL RETARDATION, X-LINKED 58; MRX58

300271 MENTAL RETARDATION, X-LINKED 72; MRX72

300355 MENTAL RETARDATION, X-LINKED 73; MRX73

300372 MENTAL RETARDATION, X-LINKED 42; MRX42

300387 MENTAL RETARDATION, X-LINKED 63; MRX63

300392 WAS GENE; WAS

301500 FABRY DISEASE

302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1

302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2

302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3

309541 MENTAL RETARDATION, X-LINKED 3; MRX3

309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE

309549 MENTAL RETARDATION, X-LINKED 9; MRX9

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

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

602357 WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; WASPIP

602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

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

603134 CULLIN 1; CUL1

603182 INTERLEUKIN ENHANCER-BINDING FACTOR 3; ILF3

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

604001 A-KINASE ANCHOR PROTEIN 9; AKAP9

604143 EXTRA SPINDLE POLES-LIKE 1; ESPL1

605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C

607474 HOMOGENTISATE 1,2-DIOXYGENASE; HGD

607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY

Clinical Synopsis for 128101 DYSTONIA MUSCULORUM DEFORMANS 4; DYT4

April 25, 2003

New Entries:

607678 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D; CMT1D

607718 SYNAPTOTAGMIN 6; SYT6

607719 SYNAPTOTAGMIN 8; SYT8

607720 TRANSLIN-ASSOCIATED FACTOR X-INTERACTING PROTEIN 1; TSNAXIP1

607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR

607722 KIAA0103 GENE

607723 UNC84, C. ELEGANS, HOMOLOG OF, A; UNC84A

Changed Entries:

109200 ALOPECIA, ANDROGENETIC

118200 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B; CMT1B

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

118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

129010 EARLY GROWTH RESPONSE 2; EGR2

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

139320 GNAS COMPLEX LOCUS; GNAS

144700 RENAL CELL CARCINOMA 1; RCC1

148040 KERATIN 5; KRT5

150330 LAMIN A/C; LMNA

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

166350 OSSEOUS HETEROPLASIA, PROGRESSIVE

176807 PROSTATE CANCER

185605 SYNAPTOTAGMIN 1; SYT1

235200 HEMOCHROMATOSIS; HFE

250400 METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE

269500 SCLEROSTEOSIS; SOST

278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

278780 XERODERMA PIGMENTOSUM VII

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

300401 PROTEOLIPID PROTEIN 1; PLP1

600327 SYNAPTOTAGMIN 3; SYT3

601098 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C; CMT1C

601958 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-3 SUBUNIT; CACNB3

602581 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 3; GOLGA3

604123 RIBONUCLEASE H1; RNASEH1

604146 SYNAPTOTAGMIN 7; SYT7

605378 ALADIN; AAAS

605745 DUODENAL CYTOCHROME b

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR

April 24, 2003

New Entries:

300433 MENTAL RETARDATION, X-LINKED 81; MRX81

300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME

607713 KILLER-SPECIFIC SECRETORY PROTEIN, 37-KD

607714 TNFAIP3-INTERACTING PROTEIN 1; TNIP1

607715 TRANSFORMING GROWTH FACTOR-BETA-STIMULATED GENE TSC22

607716 SYNAPTOTAGMIN 13; SYT13

607717 TENSIN-LIKE C1 DOMAIN-CONTAINING PHOSPHATASE; TENC1

Changed Entries:

137020 TISSUE-SPECIFIC TRANSPLANTATION ANTIGEN 3; TSTA3

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

148069 KERATIN 17; KRT17

160740 MYOSIN, HEAVY CHAIN 2, SKELETAL MUSCLE, ADULT; MYH2

191045 TROPONIN T2, CARDIAC; TNNT2

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

209500 ATRICHIA WITH PAPULAR LESIONS; APL

300386 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5

305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC

600076 TENSIN; TNS

602201 EXTRACELLULAR MATRIX PROTEIN 1; ECM1

602302 HAIRLESS, MOUSE, HOMOLOG OF; HR

602960 DELTA SLEEP-INDUCING PEPTIDE, IMMUNOREACTOR; DSIPI

603825 HYPERMETHYLATED IN CANCER 1; HIC1

603831 PDZ DOMAIN-CONTAINING 1; PDZK1

605101 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN

605299 NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6

607170 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1; CRELD1

607428 KIN OF IRRE-LIKE; KIRREL

607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS

607712 HYPERMETHYLATED IN CANCER 2; HIC2

April 23, 2003

New Entries:

607704 KIDNEY ANKYRIN REPEAT-CONTAINING PROTEIN

607705 PROTEASOME ACTIVATOR SUBUNIT 4; PSME4

607707 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-BETA; CAMK2B

607708 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D

607709 TIGHT JUNCTION PROTEIN 2; TJP2

607710 X123 GENE

607711 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF

607712 HYPERMETHYLATED IN CANCER 2; HIC2

Changed Entries:

114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A

123450 CRI-DU-CHAT SYNDROME

135620 INTEGRIN, ALPHA-5; ITGA5

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

150330 LAMIN A/C; LMNA

167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1

167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2

169400 PELGER-HUET ANOMALY; PHA

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

176980 PROTEIN KINASE C, GAMMA; PRKCG

215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA

247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

600024 LAMIN B RECEPTOR; LBR

600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2

600725 SONIC HEDGEHOG; SHH

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

602479 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1

603157 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY, 2; PIK3R2

603158 UBIQUITIN-SPECIFIC PROTEASE 8; USP8

603313 POTASSIUM CHANNEL REGULATOR 1

603414 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 2; TM7SF2

604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC

604957 MOVED TO 604946

605253 NEUROPATHY, CONGENITAL HYPOMYELINATING

605361 SPINOCEREBELLAR ATAXIA 14; SCA14

605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1

605725 PERIAXIN

606215 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1; AVSD1

606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2

606941 DISRUPTED IN BIPOLAR DISORDER 1; DIBD1

607704 KIDNEY ANKYRIN REPEAT-CONTAINING PROTEIN

607705 PROTEASOME ACTIVATOR SUBUNIT 4; PSME4

Clinical Synopsis for 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

Clinical Synopsis for 215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA

Clinical Synopsis for 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Clinical Synopsis for 605361 SPINOCEREBELLAR ATAXIA 14; SCA14

April 22, 2003

New Entries:

607698 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR

607699 RING FINGER PROTEIN 20; RNF20

607700 RING FINGER PROTEIN 40; RNF40

607701 SARCOMERIC MUSCLE PROTEIN

607702 CHROMOSOME 8 OPEN READING FRAME 4; C8ORF4

607703 NUCLEOPORIN, 210-KD

Changed Entries:

103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1

118450 ALAGILLE SYNDROME; AGS

139190 GROWTH HORMONE-RELEASING HORMONE; GHRH

139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR

139250 GROWTH HORMONE 1; GH1

142910 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR

147670 INSULIN RECEPTOR; INSR

164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

175780 PORENCEPHALY, FAMILIAL

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

191170 TUMOR PROTEIN p53; TP53

202650 DYSGNATHIA COMPLEX

235200 HEMOCHROMATOSIS; HFE

600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2

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

601920 JAGGED 1; JAG1

602055 INSULIN-INDUCED GENE 1; INSIG1

602098 POLO-LIKE KINASE; PLK

602483 EARS, PROMINENT AND CONSTRICTED

602538 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 2; CUGBP2

602700 E1A-BINDING PROTEIN, 300-KD; EP300

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1

605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

606693 PARKINSON DISEASE 9; PARK9

April 21, 2003

Changed Entries:

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

138970 COLONY-STIMULATING FACTOR 3; CSF3

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

164160 LEPTIN; LEP

191160 TUMOR NECROSIS FACTOR; TNF

226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1

300074 X CHROMOSOME-CONTROLLING ELEMENT

300079 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4

300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12

602234 CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9

604480 SIRTUIN 2; SIRT2

604538 KINESIN-LIKE 6; KNSL6

606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1

607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

April 18, 2003

New Entries:

607695 SELENOPROTEIN TRANSLATION FACTOR SELB

607696 USH1G GENE; USH1G

Changed Entries:

182960 SPINAL MUSCULAR ATROPHY, DISTAL

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

191170 TUMOR PROTEIN p53; TP53

300100 ADRENOLEUKODYSTROPHY; ALD

300157 FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4

300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB

312910 SPASTIC PARAPARESIS AND DEAFNESS

600014 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

600287 GLYCYL-tRNA SYNTHETASE; GARS

600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2

600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV

601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D

601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4

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

604123 RIBONUCLEASE H1; RNASEH1

604487 OTOGELIN; OTOG

605242 USH1C GENE; USH1C

605434 CLASPIN, XENOPUS, HOMOLOG OF

605514 PROTOCADHERIN 15; PCDH15

606943 USHER SYNDROME, TYPE IG; USH1G

607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL, LOW SERUM, 3

607693 SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2

607696 USH1G GENE; USH1G

April 17, 2003

New Entries:

607693 SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2

607694 LEUKODYSTROPHY WITH OLIGODONTIA

Changed Entries:

107300 ANTITHROMBIN III DEFICIENCY

107400 PROTEASE INHIBITOR 1; PI

109635 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1

123700 CUTIS LAXA

140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A

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

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

165720 OSTEOARTHRITIS

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

176883 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6

182100 FUCOSYLTRANSFERASE 2; FUT2

186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A

186940 CD4 ANTIGEN; CD4

187270 TELOMERE REVERSE TRANSCRIPTASE; TERT

188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

225500 ELLIS-VAN CREVELD SYNDROME; EVC

226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS

255980 NASODIGITOACOUSTIC SYNDROME

314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST

600040 BCL2-ASSOCIATED X PROTEIN; BAX

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

600516 BCL2 ANTAGONIST KILLER 1; BAK1

600705 SATOYOSHI SYNDROME

600870 G PROTEIN-COUPLED RECEPTOR KINASE 5; GPRK5

601128 H3 HISTONE, FAMILY 3A; H3F3A

601194 TOLL-LIKE RECEPTOR 1; TLR1

601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2

601920 JAGGED 1; JAG1

603028 TOLL-LIKE RECEPTOR 2; TLR2

604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1

604580 FIBULIN 5; FBLN5

605058 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 44, YEAST, HOMOLOG OF;

605984 EMBRYONIC ECTODERM DEVELOPMENT PROTEIN, MOUSE, HOMOLOG OF; EED

607261 ELLIS-VAN CREVELD SYNDROME GENE 2; EVC2

607649 GREY-LETHAL, MOUSE, HOMOLOG OF

607694 LEUKODYSTROPHY WITH OLIGODONTIA

April 16, 2003

Changed Entries:

116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

135630 INTEGRIN, BETA-1; ITGB1

139320 GNAS COMPLEX LOCUS; GNAS

150330 LAMIN A/C; LMNA

151623 LI-FRAUMENI SYNDROME; LFS

155541 MELANOCORTIN 4 RECEPTOR; MC4R

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

173470 INTEGRIN, BETA-3; ITGB3

176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

193670 WHIM SYNDROME

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

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

600065 INTEGRIN, BETA-2; ITGB2

600933 COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1

601546 PROSPERO-RELATED HOMEO BOX 1; PROX1

602075 SPECIAL AT-RICH SEQUENCE BINDING PROTEIN 1; SATB1

604367 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS AND

604433 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3;

607332 CHROMOSOME 5 OPEN READING FRAME 13; C5ORF13

Clinical Synopsis for 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

April 15, 2003

New Entries:

607689 ANDERSON DISEASE

607690 SAR1A, S. CEREVISIAE, HOMOLOG 2; SARA2

607691 SAR1A, S. CEREVISIAE, HOMOLOG 1; SARA1

607692 CHYLOMICRON RETENTION DISEASE WITH MARINESCO-SJOGREN SYNDROME

Changed Entries:

133430 ESTROGEN RECEPTOR 1; ESR1

136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB

164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1

168600 PARKINSON DISEASE; PD

174800 MCCUNE-ALBRIGHT SYNDROME; MAS

176270 PRADER-WILLI SYNDROME; PWS

188580 THYROTOXIC PERIODIC PARALYSIS

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

191170 TUMOR PROTEIN p53; TP53

246700 CHYLOMICRON RETENTION DISEASE; CMRD

248800 MARINESCO-SJOGREN SYNDROME; MSS

249100 FAMILIAL MEDITERRANEAN FEVER; FMF

308700 KALLMANN SYNDROME 1; KAL1

313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

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

601205 SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 1; SIX1

601486 DELETED IN AZOOSPERMIA-LIKE; DAZL

601663 ESTROGEN RECEPTOR 2; ESR2

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

602029 REMOVED FROM DATABASE

604433 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3;

605286 CALPAIN 10; CAPN10

605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1

606089 BRAIN CYTOPLASMIC RNA 1; BCYRN1

April 14, 2003

New Entries:

607688 PARKINSON DISEASE 11

Changed Entries:

111380 BLOOD GROUP--OK; OK

112050 BLOOD GROUP--WRIGHT ANTIGEN; Wr

140050 GRANZYME A; GZMA

151410 BREAKPOINT CLUSTER REGION; BCR

156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1

164761 RET PROTOONCOGENE; RET

168600 PARKINSON DISEASE; PD

176400 PRECOCIOUS PUBERTY

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

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

219080 CUSHING DISEASE, ADRENAL

300040 SMC1-LIKE 1; SMC1L1

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

600960 SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED; SET

602552 NUCLEOPORIN, 88-KD; NUP88

603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2

603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4

604384 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1

604418 GAP JUNCTION PROTEIN, BETA-6; GJB6

604775 ANKYRIN-LIKE PROTEIN WITH TRANSMEMBRANE DOMAINS 1; ANKTM1

604969 SRC FAMILY-ASSOCIATED PHOSPHOPROTEIN 1; SCAP1

605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5

605380 FIBROBLAST GROWTH FACTOR 23; FGF23

605565 RESISTIN; RETN

605645 RESISTIN-LIKE PROTEIN, BETA; RETNLB

606062 CHONDROITIN SULFATE PROTEOGLYCAN 6; CSPG6

606462 RAD21, S. POMBE, HOMOLOG OF; RAD21

607375 DOT1, YEAST, HOMOLOG OF

April 11, 2003

New Entries:

607567 OLFACTOMEDIN 3; OLFM3

607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC

607686 FIP1-LIKE 1; FIP1L1

607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL, LOW SERUM, 3

Changed Entries:

110600 ADP-RIBOSYLTRANSFERASE 4; ART4

120353 MATRIX METALLOPROTEINASE 1; MMP1

133200 ERYTHROKERATODERMIA VARIABILIS; EKV

144250 HYPERLIPIDEMIA, FAMILIAL COMBINED

146734 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 5; IGFBP5

147670 INSULIN RECEPTOR; INSR

152445 LORICRIN; LOR

173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA

208400 ASPARTYLGLUCOSAMINURIA

601652 MYOCILIN; MYOC

602402 FORKHEAD BOX C2; FOXC2

603087 MOVED TO 110600

604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY

604117 VOHWINKEL SYNDROME, VARIANT FORM

605425 GAP JUNCTION PROTEIN, BETA-4; GJB4

606744 SECKEL SYNDROME 2; SCKL2

Clinical Synopsis for 208400 ASPARTYLGLUCOSAMINURIA

April 10, 2003

New Entries:

Clinical Synopsis for 607628 EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING

Clinical Synopsis for 607631 EPILEPSY, JUVENILE ABSENCE; JAE

Clinical Synopsis for 607681 EPILEPSY, CHILDHOOD ABSENCE, 2

Clinical Synopsis for 607682 EPILEPSY, CHILDHOOD ABSENCE, 3

Changed Entries:

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

113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ

126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD

139350 KERATIN 1; KRT1

148040 KERATIN 5; KRT5

150330 LAMIN A/C; LMNA

151410 BREAKPOINT CLUSTER REGION; BCR

162400 NEUROPATHY, HEREDITARY SENSORY, TYPE I; HSN1

176100 PORPHYRIA CUTANEA TARDA

176640 PRION PROTEIN; PRNP

176807 PROSTATE CANCER

188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE

210300 BIEMOND CONGENITAL AND FAMILIAL ANALGESIA

605712 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1

606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4

607641 LOWER MOTOR NEURON DISEASE, PROGRESSIVE, WITHOUT SENSORY SYMPTOMS

Clinical Synopsis for 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME

Clinical Synopsis for 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

Clinical Synopsis for 304150 CUTIS LAXA, X-LINKED

Clinical Synopsis for 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Clinical Synopsis for 600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1

Clinical Synopsis for 600669 EPILEPSY, IDIOPATHIC GENERALIZED; IGE

April 9, 2003

New Entries:

607628 EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING

607631 EPILEPSY, JUVENILE ABSENCE; JAE

607681 EPILEPSY, CHILDHOOD ABSENCE, 2

607682 EPILEPSY, CHILDHOOD ABSENCE, 3

607683 DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52

Changed Entries:

121210 FEBRILE SEIZURES

137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2

138245 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 1; GRIK1

143100 HUNTINGTON DISEASE; HD

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

155720 MELANOMA, UVEAL

168600 PARKINSON DISEASE; PD

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1

300322 LESCH-NYHAN SYNDROME; LNS

600018 OPIOID RECEPTOR, MU-1; OPRM1

600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1

600570 CHLORIDE CHANNEL 2; CLCN2

600669 EPILEPSY, IDIOPATHIC GENERALIZED; IGE

601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4

602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3

606904 EPILEPSY, JUVENILE MYOCLONIC; JME

606971 MOVED TO 607631

606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME

607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5

607628 EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING

607681 EPILEPSY, CHILDHOOD ABSENCE, 2

607682 EPILEPSY, CHILDHOOD ABSENCE, 3

607683 DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52

April 8, 2003

New Entries:

607671 DYSTONIA 13, TORSION; DYT13

607679 DEDICATOR OF CYTOKINESIS 4

607680 ZINC FINGER PROTEIN 363; ZNF363

Changed Entries:

104311 PRESENILIN 1; PSEN1

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM

107741 APOLIPOPROTEIN E; APOE

114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC

116960 MORTALITY FACTOR 4; MORF4

120940 COMPLEMENT COMPONENT 9; C9

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE

160120 EPISODIC ATAXIA, TYPE 1; EA1

162091 SCHWANNOMATOSIS

162200 NEUROFIBROMATOSIS, TYPE I; NF1

165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3

176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

176879 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 5; PTPN5

176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1

202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

210300 BIEMOND CONGENITAL AND FAMILIAL ANALGESIA

300000 OPITZ SYNDROME

300100 ADRENOLEUKODYSTROPHY; ALD

300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

516005 COMPLEX I, SUBUNIT ND5; MTND5

600197 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN

600691 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 1; SLC27A1

600759 PRESENILIN 2; PSEN2

601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1

601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7

602020 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN

602780 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL

603247 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 2; SLC27A2

603314 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 5; SLC27A5

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603376 LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF

604193 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 3; SLC27A3

604194 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4

604196 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 6; SLC27A6

604480 SIRTUIN 2; SIRT2

604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR

604934 TUBULIN-SPECIFIC CHAPERONE E; TBCE

605911 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY

607302 MOVED TO 116960

607399 MUCOLIPIN 2; MCOLN2

607629 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, A

607630 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, B

607632 PRESENILIN ENHANCER 2, C. ELEGANS, HOMOLOG OF

607680 ZINC FINGER PROTEIN 363; ZNF363

April 7, 2003

New Entries:

607676 IRAK4 DEFICIENCY

Changed Entries:

135500 ZIMMERMANN-LABAND SYNDROME; ZLS

136533 FORKHEAD BOX O1A; FOXO1A

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

160776 MYOSIN, HEAVY CHAIN 10, NONMUSCLE; MYH10

160777 MYOSIN VA; MYO5A

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

166490 SECRETED PHOSPHOPROTEIN 1; SPP1

170280 PERFORIN 1; PRF1

172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF

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

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

193500 WAARDENBURG SYNDROME, TYPE I; WS1

200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA

211350 KYPHOMELIC DYSPLASIA

272120 SUDDEN INFANT DEATH SYNDROME

600147 MESENCHYME HOMEO BOX 1; MEOX1

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

601396 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8B; WNT8B

601654 EYES ABSENT 2; EYA2

602188 EPHRIN RECEPTOR EphA4; EPHA4

602297 EPHRIN B3; EFNB3

603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1

603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

604114 PHOSPHOLIPASE C, BETA-2; PLCB2

604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3

604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5;

606597 PAIRED BOX GENE 3; PAX3

606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4

607251 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF;

607379 NEUROFIBROMIN 2; NF2

April 4, 2003

New Entries:

607672 CARDIOTROPHIN-LIKE CYTOKINE

Clinical Synopsis for 602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

Changed Entries:

118510 CHOLINERGIC RECEPTOR, MUSCARINIC, 1; CHRM1

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

130000 EHLERS-DANLOS SYNDROME, TYPE I

130010 EHLERS-DANLOS SYNDROME, TYPE II

130020 EHLERS-DANLOS SYNDROME, TYPE III

130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT

130080 EHLERS-DANLOS SYNDROME, TYPE VIII

146738 INSULIN-LIKE 3; INSL3

147620 INTERLEUKIN 6; IL6

147900 JOINT LAXITY, FAMILIAL

180692 RNA, U6 SMALL NUCLEAR; RNU6

188840 TITIN; TTN

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2

225400 EHLERS-DANLOS SYNDROME, TYPE VI

225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE

229200 FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY

253200 MUCOPOLYSACCHARIDOSIS TYPE VI

253220 MUCOPOLYSACCHARIDOSIS TYPE VII

256600 NEUROAXONAL DYSTROPHY, INFANTILE

259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE

269600 SEA-BLUE HISTIOCYTE DISEASE

278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA

300143 MENTAL RETARDATION, X-LINKED 21; MRX21

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

309530 MENTAL RETARDATION, X-LINKED 1; MRX1

600075 TATA BOX-BINDING PROTEIN; TBP

600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1

601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8

601675 TRICHOTHIODYSTROPHY; TTD

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A

602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9

604592 T CELL IMMUNE REGULATOR 1; TCIRG1

604902 BRF1, S. CEREVISIAE, HOMOLOG OF; BRF1

607012 B-DOUBLE PRIME 1, SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION

Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1

Clinical Synopsis for 164200 OCULODENTODIGITAL DYSPLASIA; ODDD

Clinical Synopsis for 200700 CHONDRODYSPLASIA, GREBE TYPE

Clinical Synopsis for 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

Clinical Synopsis for 210600 SECKEL SYNDROME

Clinical Synopsis for 214450 GRISCELLI SYNDROME, TYPE 1; GS1

Clinical Synopsis for 218040 COSTELLO SYNDROME

Clinical Synopsis for 223370 DUBOWITZ SYNDROME

Clinical Synopsis for 228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY

Clinical Synopsis for 243800 JOHANSON-BLIZZARD SYNDROME; JBS

Clinical Synopsis for 253250 MULIBREY NANISM

Clinical Synopsis for 256710 ELEJALDE SYNDROME

Clinical Synopsis for 272430 COLD-INDUCED SWEATING SYNDROME; CISS

Clinical Synopsis for 300337 HYPOMELANOSIS OF ITO; HMI

Clinical Synopsis for 607624 GRISCELLI SYNDROME, TYPE 2; GS2

April 3, 2003

New Entries:

300430 MENTAL RETARDATION, X-LINKED 36; MRX36

300431 ATKIN SYNDROME

607640 SCA7 GENE; SCA7

607675 REST COREPRESSOR; RCOR

Changed Entries:

104311 PRESENILIN 1; PSEN1

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

108355 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2

137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1

143100 HUNTINGTON DISEASE; HD

163890 SYNUCLEIN, ALPHA; SNCA

164005 NUCLEAR FACTOR I/X; NFIX

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

164500 SPINOCEREBELLAR ATAXIA 7; SCA7

176430 PREMATURE CENTROMERE DIVISION; PCD

182280 SMALL CELL CANCER OF THE LUNG

187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1

188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

191306 KINASE INSERT DOMAIN RECEPTOR; KDR

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1

300229 VARIABLY CHARGED, X CHROMOSOME; VCX

300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX

300419 MENTAL RETARDATION, X-LINKED 54; MRX54

300426 MENTAL RETARDATION, X-LINKED 34; MRX34

300428 MENTAL RETARDATION, X-LINKED 2; MRX2

300430 MENTAL RETARDATION, X-LINKED 36; MRX36

309530 MENTAL RETARDATION, X-LINKED 1; MRX1

600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

600308 AQUAPORIN 4; AQP4

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

600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST

600725 SONIC HEDGEHOG; SHH

600727 NUCLEAR FACTOR I/A; NFIA

600728 NUCLEAR FACTOR I/B; NFIB

600729 NUCLEAR FACTOR I/C; NFIC

601236 DISABLED, DROSOPHILA, HOMOLOG OF, 2; DAB2

601565 INTERFERON CONSENSUS SEQUENCE-BINDING PROTEIN 1; ICSBP1

602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2

602787 HISTONE 1, H2AI; HIST1H2AI

602788 HISTONE 1, H2AK; HIST1H2AK

602791 HISTONE 1, H2AJ; HIST1H2AJ

602792 HISTONE 1, H2AD; HIST1H2AD

602804 HISTONE 1, H2BF; HIST1H2BF

602808 HISTONE 1, H2BO; HIST1H2BO

602813 HISTONE 1, H3E; HIST1H3E

602819 HISTONE 1, H3B; HIST1H3B

602823 HISTONE 1, H4D; HIST1H4D

603306 TRANSCRIPTION FACTOR 21; TCF21

603516 SPINOCEREBELLAR ATAXIA 10; SCA10

603628 MUSCULIN; MSC

603680 SPINOCEREBELLAR ATAXIA 8; SCA8

603743 APOLIPOPROTEIN L-I; APOL1

604906 SCHIZOPHRENIA 9; SCZD9

606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5

607302 MORTALITY FACTOR 4; MORF4

607673 ER DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN

607675 REST COREPRESSOR; RCOR

Clinical Synopsis for 135900 FIFTH DIGIT SYNDROME

Clinical Synopsis for 138770 GMS SYNDROME

Clinical Synopsis for 152950 LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME

Clinical Synopsis for 164500 SPINOCEREBELLAR ATAXIA 7; SCA7

Clinical Synopsis for 214900 CHOLESTASIS-LYMPHEDEMA SYNDROME

Clinical Synopsis for 235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL

Clinical Synopsis for 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME

Clinical Synopsis for 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID

Clinical Synopsis for 269880 SHORT SYNDROME

Clinical Synopsis for 601927 LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES

Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS

April 2, 2003

New Entries:

607673 ER DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN

Clinical Synopsis for 235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL

Clinical Synopsis for 607326 SMITH-MCCORT DYSPLASIA; SMC

Changed Entries:

118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE

118661 CHONDROITIN SULFATE PROTEOGLYCAN 2; CSPG2

123812 cAMP RESPONSE ELEMENT MODULATOR; CREM

131210 SELECTIN E; SELE

134390 COAGULATION FACTOR III; F3

146738 INSULIN-LIKE 3; INSL3

151430 B-CELL CLL/LYMPHOMA 2; BCL2

153240 SELECTIN L; SELL

160777 MYOSIN VA; MYO5A

161950 IgA NEPHROPATHY

164761 RET PROTOONCOGENE; RET

176640 PRION PROTEIN; PRNP

184429 SRY-BOX 2; SOX2

190470 TRIPEPTIDYL PEPTIDASE II; TPP2

191160 TUMOR NECROSIS FACTOR; TNF

191170 TUMOR PROTEIN p53; TP53

194355 X BOX-BINDING PROTEIN 1; XBP1

206900 ANOPHTHALMOS, TRUE OR PRIMARY

209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF

210600 SECKEL SYNDROME

219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL

219700 CYSTIC FIBROSIS; CF

235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL

252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB

254780 MYOCLONIC EPILEPSY OF LAFORA

259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE

300017 FILAMIN A; FLNA

302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2

305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD

308700 KALLMANN SYNDROME 1; KAL1

309350 MELNICK-NEEDLES SYNDROME; MNS

311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),

600386 INHIBITOR OF DNA BINDING 2; ID2

600810 PHOSPHOLIPASE C, BETA-4; PLCB4

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

601143 DYNACTIN 1; DCTN1

601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR

601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION

602369 CYSTEINE-RICH, ANGIOGENIC INDUCER, 61; CYR61

602406 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 1; HAND1

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

602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1

603030 TOLL-LIKE RECEPTOR 4; TLR4

603068 DUAL-SPECIFICITY PHOSPHATASE 2; DUSP2

603851 PAIRED MESODERM HOMEO BOX 2B; PMX2B

603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A

605037 KINESIN FAMILY MEMBER 17

605126 ACTIVATOR OF CREM IN TESTIS

605216 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4

605491 NEBULETTE

605854 p53-UPREGULATED MODULATOR OF APOPTOSIS

606526 MELANOPHILIN

607036 ISOVALERYL CoA DEHYDROGENASE; IVD

607326 SMITH-MCCORT DYSPLASIA; SMC

607358 AUTOIMMUNE REGULATOR; AIRE

607593 NUCLEAR FACTOR WITH BRCT DOMAINS PROTEIN 1

607621 COLLECTIN 12; COLEC12

607641 LOWER MOTOR NEURON DISEASE, PROGRESSIVE, WITHOUT SENSORY SYMPTOMS

607642 RETINOIC ACID-INDUCED GENE 1; RAI1

607649 GREY-LETHAL, MOUSE, HOMOLOG OF

607673 ER DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN

Clinical Synopsis for 117650 CEREBROCOSTOMANDIBULAR SYNDROME

Clinical Synopsis for 135900 FIFTH DIGIT SYNDROME

Clinical Synopsis for 138770 GMS SYNDROME

Clinical Synopsis for 152950 LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME

Clinical Synopsis for 214900 CHOLESTASIS-LYMPHEDEMA SYNDROME

Clinical Synopsis for 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

Clinical Synopsis for 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME

Clinical Synopsis for 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID

Clinical Synopsis for 257920 OCULOPALATOSKELETAL SYNDROME

Clinical Synopsis for 269880 SHORT SYNDROME

Clinical Synopsis for 601927 LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES

Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS

April 2, 2003

New Entries:

300425 AUTISM, X-LINKED

607036 ISOVALERYL CoA DEHYDROGENASE; IVD

607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU

607668 ADP-RIBOSYLATION-LIKE FACTOR 6 INTERACTING PROTEIN 4; ARL6IP4

607669 ADP-RIBOSYLATION FACTOR-LIKE 6 INTERACTING PROTEIN; ARL6IP

607670 SERINE/THREONINE PROTEIN KINASE 33; STK33

Changed Entries:

100678 ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

113705 BREAST CANCER, TYPE 1; BRCA1

114550 HEPATOCELLULAR CARCINOMA

116806 CATENIN, BETA-1; CTNNB1

134390 COAGULATION FACTOR III; F3

134920 FIBROBLAST GROWTH FACTOR 2; FGF2

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1

137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2

137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3

138033 GLUCAGON RECEPTOR; GCGR

138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1

138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1

138970 COLONY-STIMULATING FACTOR 3; CSF3

139190 GROWTH HORMONE-RELEASING HORMONE; GHRH

140750 SUPPRESSOR OF TUMORIGENICITY 5; ST5

142210 HISTONE 1, H1D; HIST1H1D

142220 HISTONE 1, H1E; HIST1H1E

142445 NEUREGULIN 1; NRG1

142709 HISTONE 1, H1A; HIST1H1A

142710 HISTONE 1, H1C; HIST1H1C

142711 HISTONE 1, H1B; HIST1H1B

142720 HISTONE 2, H2AA; HIST2H2AA

147460 SUPEROXIDE DISMUTASE 2; SOD2

147571 INTERFERON-INDUCED PROTEIN IFI-15K

147950 KALLMANN SYNDROME 2; KAL2

153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1

153440 LYMPHOTOXIN-ALPHA; LTA

154360 MALTASE-GLUCOAMYLASE; MGAM

157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP

159970 MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1

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

166200 OSTEOGENESIS IMPERFECTA, TYPE I

166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4

168600 PARKINSON DISEASE; PD

187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1

188400 DIGEORGE SYNDROME; DGS

190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB

192090 CADHERIN 1; CDH1

209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1

259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE

300292 FORKHEAD BOX P3; FOXP3

300336 NEUROLIGIN 3; NLGN3

300425 AUTISM, X-LINKED

300427 NEUROLIGIN 4; NLGN4

561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1

600472 DEFENSIN, ALPHA, 5; DEFA5

600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP

600483 FIBROBLAST GROWTH FACTOR 8; FGF8

600807 ASTHMA

600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9

601090 FORKHEAD BOX CI; FOXC1

601323 NUCLEOBINDIN 1; NUCB1

601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1

601831 HISTONE 2, H2BE; HIST2H2BE

602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME

602687 SERINE/THREONINE PROTEIN KINASE 6; STK6

602786 HISTONE 1, H2AE; HIST1H2AE

602788 HISTONE 1, H2AI; HIST1H2AI

602791 HISTONE 1, H2AK; HIST1H2AK

602793 HISTONE 1, H2AL; HIST1H2AL

602794 HISTONE 1, H2AC; HIST1H2AC

602795 HISTONE 1, H2AB; HIST1H2AB

602796 HISTONE 1, H2AM; HIST1H2AM

602797 HISTONE 2, H2AC; HIST2H2AC

602798 HISTONE 1, H2BG; HIST1H2BG

602799 HISTONE 1, H2BD; HIST1H2BD

602800 HISTONE 1, H2BL; HIST1H2BL

602801 HISTONE 1, H2BN; HIST1H2BN

602802 HISTONE 1, H2BM; HIST1H2BM

602803 HISTONE 1, H2BB; HIST1H2BB

602805 HISTONE 1, H2BE; HIST1H2BE

602806 HISTONE 1, H2BH; HIST1H2BH

602807 HISTONE 1, H2BI; HIST1H2BI

602810 HISTONE 1, H3A; HIST1H3A

602811 HISTONE 1, H3D; HIST1H3D

602812 HISTONE 1, H3C; HIST1H3C

602814 HISTONE 1, H3I; HIST1H3I

602815 HISTONE 1, H3G; HIST1H3G

602816 HISTONE 1, H3F; HIST1H3F

602817 HISTONE 1, H3J; HIST1H3J

602818 HISTONE 1, H3H; HIST1H3H

602820 HISTONE 3, H3; HIST3H3

602822 HISTONE 1, H4A; HIST1H4A

602824 HISTONE 1, H4F; HIST1H4F

602825 HISTONE 1, H4K; HIST1H4K

602826 HISTONE 1, H4J; HIST1H4J

602827 HISTONE 1, H4C; HIST1H4C

602828 HISTONE 1, H4H; HIST1H4H

602829 HISTONE 1, H4B; HIST1H4B

602830 HISTONE 1, H4E; HIST1H4E

602831 HISTONE 1, H4L; HIST1H4L

602832 HISTONE 1, H4G; HIST1H4G

602833 HISTONE 1, H4I; HIST1H4I

602847 HISTONE 1, H2BC; HIST1H2BC

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8;

603172 UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C

603197 NEUROPATHY TARGET ESTERASE

603385 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 1; APPBP1

603681 OTOFERLIN; OTOF

603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2

604812 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 2; LILRA2

605917 CHROMOSOME 20 OPEN READING FRAME 1; C20ORF1

606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A

606597 PAIRED BOX GENE 3; PAX3

607144 DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE

607555 TORSIN 3A; TOR3A

Clinical Synopsis for 219500 CYSTATHIONINURIA