PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for May, 2004

May 26, 2004

New Entries:

300490 SH2 DOMAIN PROTEIN 1A; SH2D1A

608686 RAB3A-INTERACTING PROTEIN; RAB3IP

608689 MESODERM POSTERIOR 1

608690 SSX2-INTERACTING PROTEIN; SSX2IP

Changed Entries:

109530 CD48 ANTIGEN; CD48

118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP

118600 CHONDROCALCINOSIS 2; CCAL2

130160 ELASTIN; ELN

130591 MOVED TO 600655

142987 HOMEOBOX D1; HOXD1

147430 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT

162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB

194050 WILLIAMS-BEUREN SYNDROME; WBS

300202 SEDLIN; SEDL

300490 SH2 DOMAIN PROTEIN 1A; SH2D1A

308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA

600655 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-2; EEF1B2

600979 LYMPHOTOXIN B RECEPTOR; LTBR

603492 SLAM FAMILY, MEMBER 1; SLAMF1

605145 ANK, MOUSE, HOMOLOG OF; ANKH

605496 CENTROSOMAL PROTEIN 1; CEP1

605554 CD244 ANTIGEN; CD244

605639 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 8; SIGLEC8

605640 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 9; SIGLEC9

606446 SLAM FAMILY, MEMBER 6; SLAMF6

606625 SLAM FAMILY, MEMBER 7; SLAMF7

608109 PSEUDOURIDINE SYNTHASE 1; PUS1

608510 EWS/FLI1-ACTIVATED TRANSCRIPT 2

608684 NINEIN; NIN

May 25, 2004

New Entries:

608685 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 2; SMC1L2

608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF

Changed Entries:

103050 ADENYLOSUCCINASE DEFICIENCY

106165 ANGIOTENSIN RECEPTOR 1; AGTR1

109350 GASTROESOPHAGEAL REFLUX

120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1

122470 CORNELIA DE LANGE SYNDROME 1; CDL1

129600 ECTOPIA LENTIS, ISOLATED

131240 ENDOTHELIN 1; EDN1

134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6

134797 FIBRILLIN 1; FBN1

138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPD

151620 LICHEN PLANUS, FAMILIAL

160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2

162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB

177900 PSORIASIS SUSCEPTIBILITY

187270 TELOMERE REVERSE TRANSCRIPTASE; TERT

188825 TISSUE INHIBITOR OF METALLOPROTEINASE 2; TIMP2

191081 TRYPTASE, BETA-1; TPSB1

191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1; SMC1L1

600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601731 5-@AMINOIMIDAZOLE-4-CARBOXAMIDE RIBONUCLEOTIDE FORMYLTRANSFERASE/IMP

602591 KINESIN, HEAVY CHAIN, 2; KIF2

602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR

605239 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4

605558 FIBROBLAST GROWTH FACTOR 20; FGF20

605692 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7;

607280 CONTACTIN 4; CNTN4

607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

608658 PROSTATE CANCER, HEREDITARY, 7

608667 NIPPED-B-LIKE

Clinical Synopsis for 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

May 24, 2004

New Entries:

608667 NIPPED-B-LIKE

608684 NINEIN; NIN

Changed Entries:

122470 CORNELIA DE LANGE SYNDROME 1; CDL1

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

142959 HOMEOBOX A13; HOXA13

142989 HOMEOBOX D13; HOXD13

147891 SMALL PATELLA SYNDROME; SPS

157130 MICROTUBULE-ASSOCIATED PROTEIN 2; MAP2

161950 IgA NEPHROPATHY

189907 TRANSCRIPTION FACTOR 2; TCF2

191081 TRYPTASE, BETA-1; TPSB1

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE

256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

256810 NAVAJO NEUROHEPATOPATHY; NN

268000 RETINITIS PIGMENTOSA; RP

300035 EPHRIN B1; EFNB1

304110 CRANIOFRONTONASAL SYNDROME; CFNS

600979 LYMPHOTOXIN B RECEPTOR; LTBR

601719 T-BOX 4; TBX4

602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4

604284 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5

604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14

605195 MESODERM POSTERIOR 2

605496 CENTROSOMAL PROTEIN 1; CEP1

606702 PKHD1 GENE; PKHD1

607843 PKHD1-LIKE 1; PKHD1L1

608400 USH2A GENE; USH2A

608465 SENATAXIN

608681 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2

Clinical Synopsis for 122470 CORNELIA DE LANGE SYNDROME 1; CDL1

May 21, 2004

New Entries:

608652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 47; DFNA47

608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

608676 TAXILIN

608677 DAPK-INTERACTING PROTEIN 1

608678 CHROMOSOME 9 OPEN READING FRAME 26; C9ORF26

608679 TP53-REGULATING KINASE; TP53RK

608680 PRPK-BINDING PROTEIN

608681 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2

608682 ADRENOMEDULLIN 2; ADM2

608683 CYSTATIN 8; CST8

Clinical Synopsis for 300436 MENTAL RETARDATION, X-LINKED 46; MRX46

Changed Entries:

148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC

162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1

191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2

210300 MOVED TO 201300

223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3

235200 HEMOCHROMATOSIS; HFE

248800 MARINESCO-SJOGREN SYNDROME; MSS

256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

263000 PNEUMONITIS, DESQUAMATIVE INTERSTITIAL; DIP

277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1

300425 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1

300436 MENTAL RETARDATION, X-LINKED 46; MRX46

300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,

300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR

300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1

300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2

300496 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3

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

305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

516050 CYTOCHROME c OXIDASE III; MTCO3

600424 SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 1; SLC19A1

600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E

600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1

602473 ENCEPHALOPATHY, ETHYLMALONIC

602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

603031 TOLL-LIKE RECEPTOR 5; TLR5

603342 SCHIZOPHRENIA 2; SCZD2

604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY

604312 CYSTATIN 3; CST3

605195 MESODERM POSTERIOR 2

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

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607114 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 33; ADAM33

607373 AUTISM, SUSCEPTIBILITY TO, 2

607554 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY

608049 AUTISM, SUSCEPTIBILITY TO, 3

608115 OVARIAN HYPERSTIMULATION SYNDROME

608217 EPILEPSY, BENIGN NEONATAL, 3; EBN3

608219 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38

608264 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40

608265 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39

608556 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

608563 AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND OPENBITE MALOCCLUSION, AUTOSOMAL

608567 SICK SINUS SYNDROME 1; SSS1

608575 RETINOL DEHYDROGENASE 8; RDH8

608583 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2

608595 G PROTEIN-COUPLED RECEPTOR 154; GPR154

608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2

608636 AUTISM, SUSCEPTIBILITY TO, 1

608678 CHROMOSOME 9 OPEN READING FRAME 26; C9ORF26

Clinical Synopsis for 122470 CORNELIA DE LANGE SYNDROME 1; CDL1

Clinical Synopsis for 209850 AUTISM

May 20, 2004

New Entries:

608670 ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY

608671 DAZ-INTERACTING PROTEIN 1; DZIP1

608672 DAZ-INTERACTING PROTEIN 3

608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L

608674 SH3 DOMAIN PROTEIN 19

608675 FUCOKINASE; FUK

Clinical Synopsis for 300425 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1

Clinical Synopsis for 300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR

Clinical Synopsis for 300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1

Clinical Synopsis for 300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2

Clinical Synopsis for 300496 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3

Clinical Synopsis for 300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2

Clinical Synopsis for 607373 AUTISM, SUSCEPTIBILITY TO, 2

Clinical Synopsis for 608049 AUTISM, SUSCEPTIBILITY TO, 3

Clinical Synopsis for 608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2

Clinical Synopsis for 608636 AUTISM, SUSCEPTIBILITY TO, 1

Clinical Synopsis for 608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1

Changed Entries:

104300 ALZHEIMER DISEASE; AD

109565 B-CELL LYMPHOMA 6; BCL6

116790 CATECHOL-O-METHYLTRANSFERASE; COMT

121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER

123833 CYCLIN D2; CCND2

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

131340 PRODYNORPHIN; PDYN

135600 FIBRONECTIN 1; FN1

136430 FOLATE RECEPTOR 1, ADULT; FOLR1

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

141900 HEMOGLOBIN--BETA LOCUS; HBB

142445 NEUREGULIN 1; NRG1

151430 B-CELL CLL/LYMPHOMA 2; BCL2

153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1

158370 MUCIN 2, INTESTINAL; MUC2

158374 MUCIN 6, GASTRIC; MUC6

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

167870 PANIC DISORDER

176705 PROHIBITIN; PHB

176807 PROSTATE CANCER

180385 LIM DOMAIN ONLY 2; LMO2

181000 SARCOIDOSIS

181500 SCHIZOPHRENIA; SCZD

182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3

191523 UPSTREAM STIMULATORY FACTOR 1; USF1

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

600605 METAXIN 1; MTX1

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

604648 T-BOX 10; TBX10

605828 EPIDERMODYSPLASIA VERRUCIFORMIS GENE 1; EVER1

606641 BODY MASS INDEX

607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2

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

608674 SH3 DOMAIN PROTEIN 19

Clinical Synopsis for 183090 SPINOCEREBELLAR ATAXIA 2; SCA2

Clinical Synopsis for 209850 AUTISM

Clinical Synopsis for 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

Clinical Synopsis for 607136 SPINOCEREBELLAR ATAXIA 17; SCA17

May 19, 2004

New Entries:

608667 NIPPED-B-LIKE

608668 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11; ZMYND11

608669 BASONUCLIN 2; BNC2

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

107480 TOWNES-BROCKS SYNDROME; TBS

115198 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 5

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

122470 CORNELIA DE LANGE SYNDROME 1; CDL1

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

123876 CYSTEINE- AND GLYCINE-RICH PROTEIN 1; CSRP1

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

143100 HUNTINGTON DISEASE; HD

165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1

178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC

183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

209850 AUTISM

211900 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA

240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

260565 PEHO SYNDROME

267450 RESPIRATORY DISTRESS SYNDROME; RDS

269200 SCHMIDT SYNDROME

300202 SEDLIN; SEDL

300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2

304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED;

309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1

313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT

600140 CREB-BINDING PROTEIN; CREBBP

600866 PROGRAMMED CELL DEATH 2; PDCD2

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601930 BASONUCLIN 1; BNC1

602218 SAL-LIKE 1; SALL1

602635 DEAF1, DROSOPHILA, HOMOLOG OF; DEAF1

603174 HOMOCYSTEINEMIA

603672 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2, TRANSLOCATED TO,

603870 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 3; CBFA2T3

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

605810 MITOCHONDRIAL RIBOSOMAL PROTEIN S22; MRPS22

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

606846 SET AND MYND DOMAIN-CONTAINING PROTEIN 1; SMYD1

607014 HURLER SYNDROME

607070 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 10; ZMYND10

608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1

608668 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11; ZMYND11

Clinical Synopsis for 268300 ROBERTS SYNDROME; RBS

May 18, 2004

New Entries:

608664 SECKEL SYNDROME 3; SCKL3

608665 TBP1-INTERACTING PROTEIN

608666 PEROXISOME BIOGENESIS FACTOR 26; PEX26

Changed Entries:

114120 CALCINOSIS, TUMORAL, AUTOSOMAL DOMINANT

117550 SOTOS SYNDROME

119530 OROFACIAL CLEFT 1; OFC1

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

123831 CYCLIN-DEPENDENT KINASE 5; CDK5

133430 ESTROGEN RECEPTOR 1; ESR1

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

147450 SUPEROXIDE DISMUTASE 1; SOD1

162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB

167416 PAIRED BOX GENE 9; PAX9

168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176300 TRANSTHYRETIN; TTR

182230 SEPTOOPTIC DYSPLASIA

202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

209850 AUTISM

210600 SECKEL SYNDROME 1

211900 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA

227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300336 NEUROLIGIN 3; NLGN3

300425 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1

300427 NEUROLIGIN 4; NLGN4

300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1

300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2

300496 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3

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

601015 NPC2 GENE; NPC2

601756 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE

603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA

604625 OLIGODONTIA

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

607623 NPC1 GENE; NPC1

607625 NIEMANN-PICK DISEASE, TYPE C2

608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2

608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1

Clinical Synopsis for 255160 MYOPATHY, HYALINE BODY

May 18, 2004

New Entries:

300494 ASPERGER SYNDROME, X-LINKED, 1

300495 AUTISM, X-LINKED, 2

300496 AUTISM, X-LINKED, 3

300497 ASPERGER SYNDROME, X-LINKED, 2

608631 ASPERGER SYNDROME 2

608636 AUTISM, SUSCEPTIBILITY TO, 1

608638 ASPERGER SYNDROME 1

608660 INSULIN-INDUCED GENE 2; INSIG2

608661 PODOCAN; PODN

608662 TRANSMEMBRANE PROTEIN 16E; TMEM16E

608663 TRANSMEMBRANE PROTEIN 16F; TMEM16F

Changed Entries:

117139 CENTROMERIC PROTEIN A; CENPA

131240 ENDOTHELIN 1; EDN1

161400 NARCOLEPSY

174050 POLYCYSTIC LIVER DISEASE; PCLD

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

209850 AUTISM

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300336 NEUROLIGIN 3; NLGN3

300425 AUTISM, X-LINKED, 1

300427 NEUROLIGIN 4; NLGN4

300495 AUTISM, X-LINKED, 2

600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1

602081 SPECIFIC LANGUAGE IMPAIRMENT; SLI

603072 AURORA KINASE A; AURKA

604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1

604970 AURORA KINASE B; AURKB

607373 AUTISM, SUSCEPTIBILITY TO, 2

608049 AUTISM, SUSCEPTIBILITY TO, 3

608305 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER

608441 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1; SYNE1

608638 ASPERGER SYNDROME 1

608648 SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63

May 14, 2004

New Entries:

608590 MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT

608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

608656 PROSTATE CANCER, HEREDITARY, 20

608657 JUN DIMERIZATION PROTEIN 2

608658 PROSTATE CANCER, HEREDITARY, 7

608659 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 8; SENP8

Clinical Synopsis for 608590 MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT

Clinical Synopsis for 608641 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28; DFNA28

Clinical Synopsis for 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Changed Entries:

107930 DOPA DECARBOXYLASE; DDC

151680 MOVED TO 269880

154700 MARFAN SYNDROME; MFS

176807 PROSTATE CANCER

182205 SEX HORMONE-BINDING GLOBULIN; SHBG

187450 MOVED TO 182205

242650 PRIMARY CILIARY DYSKINESIA; PCD

255160 MYOPATHY, HYALINE BODY

269880 SHORT SYNDROME

274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL; TTP

305400 FACIOGENITAL DYSPLASIA

600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV

602006 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2

604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1

604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2

605003 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 6; SENP6

607465 CODANIN 1; CDAN1

607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1

608261 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 2; SENP2

608656 PROSTATE CANCER, HEREDITARY, 20

608657 JUN DIMERIZATION PROTEIN 2

608658 PROSTATE CANCER, HEREDITARY, 7

Mini-MIM for 122470 CORNELIA DE LANGE SYNDROME 1; CDL1

Clinical Synopsis for 187450 MOVED TO 182205

Clinical Synopsis for 255160 MYOPATHY, HYALINE BODY

May 13, 2004

New Entries:

608653 DEAFNESS, AUTOSOMAL RECESSIVE 32; DFNB32

608655 GAP JUNCTION PROTEIN, ALPHA-7; GJA7

Changed Entries:

107266 CD22 ANTIGEN; CD22

108732 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 4; ATP2B4

115150 CARDIOFACIOCUTANEOUS SYNDROME

121012 GAP JUNCTION PROTEIN, ALPHA-4; GJA4

121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5

135000 MOVED TO 178500

142623 HIRSCHSPRUNG DISEASE

146661 INTERLEUKIN 7 RECEPTOR; IL7R

159900 MYOCLONIC DYSTONIA

162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4

163950 NOONAN SYNDROME 1; NS1

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

176705 PROHIBITIN; PHB

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

178500 PULMONARY FIBROSIS, IDIOPATHIC

178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC

190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1

212750 CELIAC DISEASE; CD

263000 PNEUMONITIS, DESQUAMATIVE INTERSTITIAL; DIP

561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1

600068 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7; UGT2B7

600315 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

601556 ATAXIN 1; ATX1

601754 UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L

603368 CYCLIN-DEPENDENT KINASE 6; CDK6

604149 SARCOGLYCAN, EPSILON; SGCE

604375 HUMAN GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HGS

605312 GROWTH/DIFFERENTIATION FACTOR 15; GDF15

606409 ITCHY, MOUSE, HOMOLOG OF; ITCH

607265 EPSIN 4

607549 ANKYRIN REPEAT DOMAIN 21; ANKRD21

608144 SAM POINTED DOMAIN-CONTAINING ETS TRANSCRIPTION FACTOR; SPDEF

608645 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 31; DFNA31

Clinical Synopsis for 135000 MOVED TO 178500

May 12, 2004

New Entries:

608650 UNC51-LIKE KINASE 2; ULK2

608651 CENTAURIN, GAMMA-2; CENTG2

Changed Entries:

107273 CD69 ANTIGEN; CD69

112267 BONE MORPHOGENETIC PROTEIN 7; BMP7

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

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

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

127700 DYSLEXIA, SPECIFIC, 1; DYX1

143100 HUNTINGTON DISEASE; HD

146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4

147421 INCLUSION BODY MYOSITIS

158580 MOTOR NEURONOPATHY, DISTAL HEREDITARY, WITH VOCAL CORD PARALYSIS

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

165162 ONCOGENE JUN-D; JUND

173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT

180380 RHODOPSIN; RHO

186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1

190170 TRANSFORMING GROWTH FACTOR, ALPHA; TGFA

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

191340 UBIQUITIN C; UBC

191343 RIBOSOMAL PROTEIN S27a; RPS27A

246530 LEUKOTRIENE C4 SYNTHASE; LTC4S

249420 TER HAAR SYNDROME

256000 LEIGH SYNDROME; LS

259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI

266500 REFSUM DISEASE

300035 EPHRIN B1; EFNB1

300264 UBIQUILIN 2; UBQLN2

307800 HYPOPHOSPHATEMIA, X-LINKED

309350 MELNICK-NEEDLES SYNDROME; MNS

312070 UBIQUITIN-LIKE 4; UBL4

600075 TATA BOX-BINDING PROTEIN; TBP

600112 DYNEIN, CYTOPLASMIC, HEAVY CHAIN 1; DNCH1

600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME

600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V

600654 PROTEASOME ACTIVATOR SUBUNIT 1; PSME1

600696 ENOYL-CoA HYDRATASE, PEROXISOMAL; ECH1

600725 SONIC HEDGEHOG; SHH

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

600966 LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 1; LLGL1

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

601152 PERIPHERAL NEUROPATHY AND OPTIC ATROPHY

601447 UBIQUITIN-SPECIFIC PROTEASE 5; USP5

601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D

601912 UBIQUITIN-LIKE 1; UBL1

601924 COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA

602163 UBIQUITIN-CONJUGATING ENZYME E2E 2; UBE2E2

602175 PROTEASOME SUBUNIT, BETA-TYPE, 2; PSMB2

602231 SMT3, YEAST, HOMOLOG 1; SMT3H1

602390 HEMOCHROMATOSIS, JUVENILE; JH

602544 PARKIN; PARK2

602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3

603091 UBIQUITIN-SPECIFIC PROTEASE 12; USP12

603168 UNC51-LIKE KINASE 1; ULK1

603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8;

603172 UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C

603173 UBIQUITIN-CONJUGATING ENZYME E2M; UBE2M

603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1

603385 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 1; APPBP1

603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N

603846 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3; NDUFS3

603948 NUCLEOPORIN, 153-KD; NUP153

604711 UBIQUITIN-LIKE 3; UBL3

604725 UBIQUITIN-SPECIFIC PROTEASE 2; USP2

604728 UBIQUITIN-SPECIFIC PROTEASE 3; USP3

604729 UBIQUITIN-SPECIFIC PROTEASE 21; USP21

604731 UBIQUITIN-SPECIFIC PROTEASE 15; USP15

604735 UBIQUITIN-SPECIFIC PROTEASE 16; USP16

604736 UBIQUITIN-SPECIFIC PROTEASE 25; USP25

605003 SUMO1-SPECIFIC PROTEASE 1

605046 UBIQUILIN 1; UBQLN1

605473 UBIQUILIN 3; UBQLN3

605476 CENTAURIN, GAMMA-1; CENTG1

605490 PROTEASE, SERINE, 15; PRSS15

605595 SPLICING FACTOR 3A, SUBUNIT 1; SF3A1

605624 ARIADNE, DROSOPHILA, HOMOLOG OF, 1; ARIH1

606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS

606849 UBIQUITIN-LIKE 5; UBL5

607136 SPINOCEREBELLAR ATAXIA 17; SCA17

607275 HOMEODOMAIN-ONLY PROTEIN

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

607903 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH

May 11, 2004

New Entries:

608648 SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63

608649 ICHTHYOSIS PREMATURITY SYNDROME

Changed Entries:

116940 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2

133020 ERYTHERMALGIA, PRIMARY

138040 GLUCOCORTICOID RECEPTOR; GCCR

162200 NEUROFIBROMATOSIS, TYPE I; NF1

176807 PROSTATE CANCER

179710 CHROMOSOME CONDENSATION 1; CHC1

191100 TUBEROUS SCLEROSIS; TS

218040 COSTELLO SYNDROME

249420 TER HAAR SYNDROME

300105 SPERMINE SYNTHASE; SMS

300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR

309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST

601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A

602109 MATRILIN 3; MATN3

602173 TRANSLOCATION PROTEIN 1, DROSOPHILA, HOMOLOG OF; TLOC1

603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A

606368 APOLIPOPROTEIN A-V; APOA5

607105 NADPH OXIDASE 3; NOX3

608520 MAJOR DEPRESSIVE DISORDER 1

608586 KERATOCONUS 3; KTCN3

608644 CILIARY DYSKINESIA, PRIMARY, 3

608646 CILIARY DYSKINESIA, PRIMARY, 4

608647 CILIARY DYSKINESIA, PRIMARY, 5

608649 ICHTHYOSIS PREMATURITY SYNDROME

Clinical Synopsis for 309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE

May 11, 2004

New Entries:

608576 TRANSCRIPTION FACTOR CELLULAR PROMOTER 2-LIKE 3; TFCP2L3

608641 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28; DFNA28

608644 CILIARY DYSKINESIA, PRIMARY, 3

608645 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 31

608646 CILIARY DYSKINESIA, PRIMARY, 4

608647 CILIARY DYSKINESIA, PRIMARY, 5

Changed Entries:

100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG-LIKE 1; ASCL1

103072 ADENYLATE CYCLASE 1; ADCY1

114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA

125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE

142445 NEUREGULIN 1; NRG1

146680 INSULIN-DEGRADING ENZYME; IDE

150330 LAMIN A/C; LMNA

164500 SPINOCEREBELLAR ATAXIA 7; SCA7

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

180960 S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY

191045 TROPONIN T2, CARDIAC; TNNT2

191523 UPSTREAM STIMULATORY FACTOR 1; USF1

192340 ARGININE VASOPRESSIN; AVP

200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

235200 HEMOCHROMATOSIS; HFE

242650 PRIMARY CILIARY DYSKINESIA; PCD

253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3

253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2

300105 SPERMINE SYNTHASE; SMS

309583 MENTAL RETARDATION SYNDROME, X-LINKED, SNYDER-ROBINSON TYPE

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

600212 FATTY ACID SYNTHASE; FASN

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

600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

600390 UPSTREAM STIMULATORY FACTOR 2; USF2

601442 COFILIN 1; CFL1

601620 T-BOX 5; TBX5

601621 T-BOX 3; TBX3

601663 ESTROGEN RECEPTOR 2; ESR2

601719 T-BOX 4; TBX4

601817 NONMETASTATIC CELLS 3, PROTEIN EXPRESSED IN; NME3

601956 GDNF FAMILY RECEPTOR ALPHA-2; GFRA2

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

603332 DYNEIN, AXONEMAL, HEAVY CHAIN 1; DNAH1

603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5

604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8

604366 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1

605145 ANK, MOUSE, HOMOLOG OF; ANKH

605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4

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

605903 PDZ AND LIM DOMAIN 7; PDLIM7

606596 FUKUTIN-RELATED PROTEIN

606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2

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

607566 EPM2A GENE; EPM2A

607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL

608207 KALA-AZAR, SUSCEPTIBILITY TO; KAZA

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

May 6, 2004

New Entries:

608637 SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE

608639 PHOSPHATIDYLINOSITOL 4-PHOSPHATE ADAPTOR PROTEIN 2

608640 ZINC FINGER PROTEIN 461

608642 ZINC-BINDING ALCOHOL DEHYDROGENASE DOMAIN-CONTAINING PROTEIN 1; ZADH1

Changed Entries:

133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E

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

156000 MENIERE DISEASE

159552 MYELOID CELL LEUKEMIA 1; MCL1

175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

191170 TUMOR PROTEIN p53; TP53

191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A

261100 MEGALOBLASTIC ANEMIA 1; MGA1

300142 p21-ACTIVATED KINASE 3; PAK3

300154 ESX1-LIKE PROTEIN; ESX1L

305400 FACIOGENITAL DYSPLASIA

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

600516 BCL2 ANTAGONIST KILLER 1; BAK1

600611 FK506-BINDING PROTEIN 4; FKBP4

600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; MADH4

601291 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 8; UGT8

601996 MOVED TO 602026

602026 PHYTANOYL-CoA HYDROXYLASE; PHYH

603196 COCHLIN; COCH

603369 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C

604755 ZINC FINGER PROTEIN 272; ZNF272

605875 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 2; WASF2

607760 DNA TOPOISOMERASE II-BINDING PROTEIN 1

607774 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 3;

608640 ZINC FINGER PROTEIN 461

May 5, 2004

New Entries:

608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

608600 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1

608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

608634 NEUROPATHY, DISTAL HEREDITARY MOTOR, CAUSED BY MUTATION IN THE HSPB1

608635 CENTAURIN, ALPHA-2; CENTA2

Clinical Synopsis for 604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3

Clinical Synopsis for 608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Clinical Synopsis for 608600 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1

Clinical Synopsis for 608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Changed Entries:

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

103710 ALCOHOL DEHYDROGENASE 5, CHI POLYPEPTIDE; ADH5

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107200 ANOSMIA, CONGENITAL

107776 AQUAPORIN 1; AQP1

114180 CALMODULIN 1; CALM1

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

114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT

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

118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

123400 CREUTZFELDT-JAKOB DISEASE; CJD

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E

133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3

140559 HEAT-SHOCK 70-KD PROTEIN-LIKE 1; HSPA1L

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

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

143010 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, E; HLA-E

146880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1

147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1

147960 KALLIKREIN 2; KLK2

150330 LAMIN A/C; LMNA

151300 LEUCYL-CYSTINYL AMINOPEPTIDASE; LNPEP

151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

158590 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II

160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9

164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA

164160 LEPTIN; LEP

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

176300 TRANSTHYRETIN; TTR

176820 KALLIKREIN 3; KLK3

179512 RAS-ASSOCIATED PROTEIN RAB5A; RAB5A

180200 RETINOBLASTOMA; RB1

185605 SYNAPTOTAGMIN 1; SYT1

185880 VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; VAMP1

186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES

186590 SYNTAXIN 1A; STX1A

186760 ANTIGEN CD28; CD28

186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1

188850 TL ANTIGEN

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

208800 PYRUVATE DECARBOXYLASE DEFICIENCY

212750 CELIAC DISEASE; CD

219700 CYSTIC FIBROSIS; CF

229300 FRIEDREICH ATAXIA 1; FRDA

248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

263000 PNEUMONITIS, DESQUAMATIVE INTERSTITIAL; DIP

269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

272500 MOVED TO 269700

300256 HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2

300305 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER

312170 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1

600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25

600374 BBS4 GENE; BBS4

600442 AQUAPORIN 5; AQP5

600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV

600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A

600997 EPHRIN RECEPTOR EphB2; EPHB2

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

601143 DYNACTIN 1; DCTN1

601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601535 EPHRIN A5; EFNA5

601748 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 2; GTF2H2

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602322 TELOMERASE RNA COMPONENT; TERC

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602521 MITOGEN-ACTIVATED PROTEIN KINASE 7; MAPK7

602568 METHIONINE SYNTHASE REDUCTASE; MTRR

602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1

602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A

602776 REV3, S. CEREVISIAE, HOMOLOG OF; REV3L

603029 TOLL-LIKE RECEPTOR 3; TLR3

603100 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2

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

603453 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 1; RIPK1

603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4

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

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

604263 PRION GENE COMPLEX, DOWNSTREAM; PRND

604299 ADAPTOR PROTEIN CONTAINING PH DOMAIN, PTB DOMAIN, AND LEUCINE ZIPPER

604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3

604479 SIRTUIN 1; SIRT1

604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14

604640 T-CELL LEUKEMIA HOMEOBOX 3; TLX3

604913 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 7; CNOT7

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

605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1

605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC

605817 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 3; RIPK3

605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15

606158 BSCL2 GENE; BSCL2

606231 ADAPTOR PROTEIN CONTAINING PH DOMAIN, PTB DOMAIN, AND LEUCINE ZIPPER

606582 DELTA-LIKE 1; DLL1

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

606641 BODY MASS INDEX

607009 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6;

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

607273 FOLLICULIN

607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1

607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1

608014 HEAT-SHOCK 22-KD PROTEIN 8; HSPB8

608056 LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY,

608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV

608114 CENTAURIN, ALPHA-1; CENTA1

608507 MITOFUSIN 2; MFN2

608558 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16, IN CHILDREN

608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20, IN CHILDREN

608632 MICRO RNA 196

Clinical Synopsis for 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

Clinical Synopsis for 158590 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II

Clinical Synopsis for 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

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

Clinical Synopsis for 606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F