PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for May, 1999

May 31, 1999

New Entries:

603855 CYSTIC FIBROSIS MODIFIER 1

603859 SOLUTE CARRIER FAMILY 25, MEMBER 13

Changed Entries:

136880 FUNDUS ALBIPUNCTATUS

152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5

157170 HOLOPROSENCEPHALY 2; HPE2

184757 FUSHI TARAZU FACTOR, DROSOPHILA, HOMOLOG 1; FTZF1

191160 TUMOR NECROSIS FACTOR; TNF

238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME

251170 MEVALONATE KINASE; MVK

260920 PERIODIC FEVER, DUTCH TYPE

302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

305600 FOCAL DERMAL HYPOPLASIA; DHOF

600840 SOLUTE CARRIER FAMILY 12, MEMBER 2; SLC12A2

601617 RETINOL DEHYDROGENASE 5; RDH5

603471 CITRULLINEMIA, ADULT-ONSET TYPE II; CTLN2

603714 SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 3; SIX3

May 28, 1999

New Entries:

603858 MESANGIAL SCLEROSIS, FAMILIAL

Changed Entries:

120520 MEMBRANE METALLOENDOPEPTIDASE; MME

162250 NEUROFILAMENT 3; NEF3

256370 NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS

600408 NEUROEPITHELIAL TYROSINE KINASE; NEP

600452 MOVED TO 600408

601312 MOVED TO 600408

May 27, 1999

New Entries:

300193 HIGH MOBILITY GROUP PROTEIN 4; HMG4

603825 HYPERMETHYLATED IN CANCER; HIC1

603850 DYNAMIN-RELATED PROTEIN 1

603852 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT cDNA 4

603853 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT cDNA 6

603854 RAN-BINDING PROTEIN, CENTROSOMAL

603856 ZINC FINGER PROTEIN 127; ZNF127

603857 ZINC FINGER PROTEIN 127, ANTISENSE

Changed Entries:

109150 MACHADO-JOSEPH DISEASE; MJD

114290 CAMPOMELIC DYSPLASIA

120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2

131195 ENDOGLIN; ENG

152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE

154230 SEX REVERSAL, AUTOSOMAL, 2; SRA2

159557 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2; MLLT2

163905 HIGH MOBILITY GROUP PROTEIN 1; HMG1

163906 HIGH MOBILITY GROUP PROTEIN 2; HMG2

163910 HIGH MOBILITY GROUP PROTEIN 17; HMG17

163920 HIGH MOBILITY GROUP PROTEIN 14; HMG14

182290 SMITH-MAGENIS SYNDROME; SMS

192090 CADHERIN 1; CDH1

194531 ZINC FINGER PROTEIN 7; ZNF7

201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA

300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC

305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

308990 LOW MOLECULAR WEIGHT PROTEINURIA, ASYMPTOMATIC; LMWP

309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

480000 SEX-DETERMINING REGION Y; SRY

600192 SYNOVIAL SARCOMA, TRANSLOCATED TO X CHROMOSOME; SSXT

600962 NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NEPPK

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

601653 EYES ABSENT 1; EYA1

602131 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT cDNA 3; TSSC3

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

603377 SOLUTE CARRIER FAMILY 22, MEMBER 5; SLC22A5

603850 DYNAMIN-RELATED PROTEIN 1

603851 PAIRED MESODERM HOMEO BOX 2B; PMX2B

May 26, 1999

New Entries:

603470 ARGININOSUCCINATE SYNTHETASE; ASS

603471 CITRULLINEMIA, ADULT-ONSET

603849 TAILLESS, DROSOPHILA, HOMOLOG OF; TLX

603851 PAIRED MESODERM HOMEO BOX 2B; PMX2B

Changed Entries:

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

109400 BASAL CELL NEVUS SYNDROME; BCNS

128100 DYSTONIA 1, TORSION; DYT1

128230 DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION

157655 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1; NDUFS1

161200 NAIL-PATELLA SYNDROME; NPS

163905 HIGH MOBILITY GROUP PROTEIN 1; HMG1

163910 HIGH MOBILITY GROUP PROTEIN 17; HMG17

163920 HIGH MOBILITY GROUP PROTEIN 14; HMG14

165350 MOVED TO 311040

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;

191100 TUBEROUS SCLEROSIS 1; TSC1

215700 CITRULLINEMIA, CLASSIC

223360 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH

237300 HYPERAMMONEMIA DUE TO CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY

248700 MARDEN-WALKER SYNDROME

278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA

311040 ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1

600711 ETS VARIANT GENE 4; ETV4

601600 ETS VARIANT GENE 5; ETV5

601769 VITAMIN D RECEPTOR; VDR

601850 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME 1, AUTOSOMAL DOMINANT

601964 TETRATRICOPEPTIDE REPEAT DOMAIN 2; TTC2

602138 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 6; NDUFA6

602139 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 7; NDUFA7

602140 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 8; NDUFB8

602985 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2

603470 ARGININOSUCCINATE SYNTHETASE; ASS

603500 TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN;

May 25, 1999

New Entries:

300192 SARCOMA, SYNOVIAL, X BREAKPOINT 2; SSX2

603827 BCL2-LIKE 11

603828 BRITTLE BONE DISORDER

603829 VENTRICULAR FIBRILLATION, IDIOPATHIC; IVF

603830 LONG QT SYNDROME 3; LQT3

603831 PDZ DOMAIN-CONTAINING 1; PDZK1

603832 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 3; NDUFA3

603833 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 4; NDUFA4

603834 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 9; NDUFA9

603835 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 10; NDUFA10

603836 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA/BETA SUBCOMPLEX, 1; NDUFAB1

603837 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 1; NDUFB1

603838 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 2; NDUFB2

603839 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 3; NDUFB3

603840 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 4; NDUFB4

603841 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 5; NDUFB5

603842 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 7; NDUFB7

603843 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 10; NDUFB10

603844 NADH-UBIQUINONE OXIDOREDUCTASE 1, SUBUNIT C1; NDUFC1

603845 NADH-UBIQUINONE OXIDOREDUCTASE 1, SUBUNIT C2; NDUFC2

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

603847 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 5; NDUFS5

603848 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 6; NDUFS6

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19

109691 BETA-3-ADRENERGIC RECEPTOR; ADRB3

130160 ELASTIN; ELN

141900 HEMOGLOBIN--BETA LOCUS; HBB

147310 INTERFERON-GAMMA-INDUCED CELL LINE, PROTEIN 10; INP10

147572 INTERFERON-INDUCED PROTEIN IFI-6-16; G1P3

147586 INTERFERON-GAMMA-INDUCIBLE PROTEIN 16; IFI16

152427 LONG QT SYNDROME 2; LQT2

159580 MYELOPATHY, HTLV-1-ASSOCIATED; HAM

162095 PLEIOTROPHIN; PTN

164785 MOUSE DOUBLE MINUTE 2, HOMOLOG OF; MDM2

167416 PAIRED BOX HOMEOTIC GENE 9; PAX9

176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;

176930 COAGULATION FACTOR II; F2

182205 SEX HORMONE-BINDING GLOBULIN; SHBG

182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

191100 TUBEROUS SCLEROSIS 1; TSC1

194070 WILMS TUMOR 1; WT1

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

220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1

220400 JERVELL AND LANGE-NIELSEN SYNDROME

227400 FACTOR V DEFICIENCY

227500 FACTOR VII DEFICIENCY

227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA

228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY

230800 GAUCHER DISEASE, TYPE I

238600 HYPERLIPOPROTEINEMIA, TYPE I

245200 KRABBE DISEASE

251290 PSEUDO-TORCH SYNDROME

260350 PANCREATIC CARCINOMA

261540 PETERS ANOMALY WITH SHORT-LIMB DWARFISM

261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS

274270 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD

278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

300008 CHLORIDE CHANNEL 5; CLCN5

300078 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1; NDUFA1

300100 ADRENOLEUKODYSTROPHY; ALD

308310 INCONTINENTIA PIGMENTI, TYPE II; IP2

309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1

309900 MUCOPOLYSACCHARIDOSIS TYPE II

590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1

600009 INTERFERON-ALPHA-INDUCIBLE PROTEIN 27; IFI27

600158 MOVED TO 251290

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

600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A

600524 RYK RECEPTOR-LIKE TYROSINE KINASE; RYK

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

600654 PROTEASOME ACTIVATOR SUBUNIT 1; PSME1

600677 MOVED TO 300192

600862 HIV-1 REV-BINDING PROTEIN; HRB

600919 LONG QT SYNDROME 4; LQT4

600962 NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NEPPK

600995 NEPHROTIC SYNDROME, IDIOPATHIC STEROID-RESISTANT; SRN1

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

601269 COMPLEMENT COMPONENT C1q-BINDING PROTEIN; C1QBP

601677 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 5; NDUFA5

602137 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2

602138 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 6; NDUFA6

602896 PROTEIN KINASE, MITOGEN-ACTIVATED 9; PRKM9

603086 ADP-RIBOSYLTRANSFERASE 3; ART3

603447 HARAKIRI; HRK

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4

603690 ACETYL-CoA TRANSPORTER; ACATN

603779 SYNUCLEIN-ALPHA-INTERACTING PROTEIN; SNCAIP

603831 PDZ DOMAIN-CONTAINING 1; PDZK1

603833 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 4; NDUFA4

603836 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA/BETA SUBCOMPLEX, 1; NDUFAB1

603837 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 1; NDUFB1

603838 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 2; NDUFB2

603839 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 3; NDUFB3

603844 NADH-UBIQUINONE OXIDOREDUCTASE 1, SUBUNIT C1; NDUFC1

Clinical Synopsis for 222100 DIABETES MELLITUS, INSULIN-DEPENDENT, 1; IDDM1

May 21, 1999

New Entries:

603826 FARNESOID X-ACTIVATED RECEPTOR

Changed Entries:

269920 SIALIC ACID STORAGE DISEASE; SIASD

600422 FATTY ACID-BINDING PROTEIN 6, ILEAL; FABP6

600695 TRANSCRIPTION ELONGATION FACTOR B, 1-LIKE; TCEB1L

600786 TRANSCRIPTION ELONGATION FACTOR B, 3; TCEB3

600787 TRANSCRIPTION ELONGATION FACTOR B, 2; TCEB2

600788 TRANSCRIPTION ELONGATION FACTOR B, 1; TCEB1

601425 TRANSCRIPTION ELONGATION FACTOR A, 1; TCEA1

601562 DYNEIN, CYTOPLASMIC, LIGHT CHAIN

601931 BCL2-LIKE 2; BCL2L2

602423 LIVER X RECEPTOR, ALPHA

603789 TRANSCRIPTION ELONGATION FACTOR A-LIKE 1; TCEAL1

603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE

May 21, 1999

New Entries:

300188 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT

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

300190 SH3-BINDING DOMAIN GLUTAMIC ACID-RICH PROTEIN-LIKE; SH3BGRL

300191 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 6; TM4SF6

603767 PROTEASE, SERINE, 17; PRSS17

603806 URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO

603807 PETERS ANOMALY WITH CATARACT

603808 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 240-KD SUBUNIT

603809 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 150-KD SUBUNIT

603810 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 80-KD SUBUNIT

603811 BREAKPOINT CLUSTER REGION PROTEIN 1

603812 BREAKPOINT CLUSTER REGION PROTEIN 2

603813 HYPERCHOLESTEROLEMIA, FAMILIAL, 4

603814 RING-BOX PROTEIN 1

603815 KINESIN-LIKE 3; KNSL3

603816 AXIS INHIBITOR 1; AXIN1

603817 ADP-RIBOSYLATION FACTOR-DIRECTED GTPase-ACTIVATING PROTEIN

603818 NEUREGULIN 2

603819 STEROID RECEPTOR RNA ACTIVATOR

603820 G PROTEIN-COUPLED RECEPTOR 40; GPR40

603821 G PROTEIN-COUPLED RECEPTOR 41; GPR41

603822 G PROTEIN-COUPLED RECEPTOR 42; GPR42

603823 G PROTEIN-COUPLED RECEPTOR 43; GPR43

603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE

Changed Entries:

102545 ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2

103300 AGLOSSIA-ADACTYLIA

103880 ALDEHYDE REDUCTASE 1; ALDR1

104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3

105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3

106210 PAIRED BOX HOMEOTIC GENE 6; PAX6

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1

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

110300 ABO BLOOD GROUP; ABO

113705 BREAST CANCER, TYPE 1; BRCA1

113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ

114350 NUCLEOPORIN, 214-KD; NUP214

116806 CATENIN, BETA-1; CTNNB1

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

118888 CHYMOTRYPSIN-LIKE PROTEASE; CTRL

119600 CLEIDOCRANIAL DYSPLASIA; CCD

120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1

122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,

123290 CREATINE KINASE, MITOCHONDRIAL; CKMT

123295 CREATINE KINASE, SARCOMERIC MITOCHONDRIAL; CKMTS

127000 KENNY-CAFFEY SYNDROME, TYPE 2

127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH

129010 EARLY GROWTH RESPONSE 2; EGR2

133430 ESTROGEN RECEPTOR 1; ESR1

134570 FACTOR XIII, A1 SUBUNIT; F13A1

134797 FIBRILLIN 1; FBN1

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

138900 GOUT

142623 HIRSCHSPRUNG DISEASE

143100 HUNTINGTON DISEASE; HD

144700 RENAL CELL CARCINOMA 1; RCC1

146510 PALLISTER-HALL SYNDROME; PHS

147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1

147720 INTERLEUKIN 1-BETA; IL1B

148190 KERATITIS, HEREDITARY

150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN

152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE

154700 MARFAN SYNDROME; MFS

155600 MELANOMA, MALIGNANT

156570 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR

158350 COWDEN DISEASE; CD

160980 CARNEY COMPLEX; CNC

161950 NEPHRITIS, IgA TYPE

162200 NEUROFIBROMATOSIS, TYPE I; NF1

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

164360 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, ALPHA SUBUNIT,

164761 RET PROTOONCOGENE; RET

165270 GLI-KRUPPEL FAMILY MEMBER HKR3; HKR3

166200 OSTEOGENESIS IMPERFECTA, TYPE I

168820 PARAOXONASE 1; PON1

170995 PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1

173420 PLATELET DISORDER, UNDEFINED

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

175200 PEUTZ-JEGHERS SYNDROME; PJS

176300 TRANSTHYRETIN; TTR

176500 PRESENILE DEMENTIA WITH SPASTIC ATAXIA

178400 PULMONARY EDEMA OF MOUNTAINEERS

179710 CHROMOSOME CONDENSATION 1; CHC1

180472 RIBOSOMAL PROTEIN S17; RPS17

183090 SPINOCEREBELLAR ATAXIA 2; SCA2

187011 SMALL INDUCIBLE CYTOKINE A5; SCYA5

187680 THIOPURINE S-METHYLTRANSFERASE; TPMT

188400 DIGEORGE SYNDROME; DGS

190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1

190685 TRISOMY 21

191092 TUBEROUS SCLEROSIS 2; TSC2

193010 MOVED TO 112266

193300 VON HIPPEL-LINDAU SYNDROME; VHL

194380 XEROCYTOSIS, HEREDITARY

194532 ZINC FINGER PROTEIN 8; ZNF8

203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN

208150 PENA-SHOKEIR SYNDROME, TYPE I

225350 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL RECESSIVE; EDS4

229300 FRIEDREICH ATAXIA 1; FRDA

230350 GALACTOSE EPIMERASE DEFICIENCY

235200 HEMOCHROMATOSIS; HFE

235735 MOVED TO 277580

240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

246900 LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO

251260 NIJMEGEN BREAKAGE SYNDROME

253000 MUCOPOLYSACCHARIDOSIS TYPE IVA

253270 MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD

254195 MYASTHENIA, CONGENITAL, PREDOMINANTLY FACIAL AND MASTICATORY

254210 MYASTHENIA GRAVIS, FAMILIAL INFANTILE; FIMG

255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION

256000 LEIGH SYNDROME

257220 NIEMANN-PICK DISEASE, TYPE C

257250 NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY

262350 PITT SYNDROME

271510 SPONASTRIME DYSPLASIA

272120 SUDDEN INFANT DEATH SYNDROME

277580 WAARDENBURG-SHAH SYNDROME

300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4

300063 IMMUNE DYSREGULATION, NEONATAL INSULIN-DEPENDENT DIABETES, AND DIARRHEA,

300104 GDP DISSOCIATION INHIBITOR 1; GDI1

300114 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 49; MRX49

300126 DYSKERIN; DKC1

301000 WISKOTT-ALDRICH SYNDROME; WAS

301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT

301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS

306700 HEMOPHILIA A

309541 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 3; MRX3

309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1

310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER

312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION

313430 SRY-BOX 3; SOX3

561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1

600175 SPINAL MUSCULAR ATROPHY, CONGENITAL NONPROGRESSIVE, OF LOWER LIMBS

600415 TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA

600594 DIGEORGE CRITICAL REGION GENE 2

600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2

600698 HIGH MOBILITY GROUP PROTEIN ISOFORM I-C; HMGIC

600886 HYPERFERRITINEMIA-CATARACT SYNDROME

600924 GROWTH FACTOR, ERV1-LIKE; GFER

600960 SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED; SET

601179 RAS-RELATED NUCLEAR PROTEIN; RAN

601253 CAVEOLIN 3; CAV3

601255 AXONAL TRANSPORTER OF SYNAPTIC VESICLES; ATSV

601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION

601368 DISHEVELLED 3; DVL3

601445 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 9; NDUFB9

601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A

601634 NEURAL TUBE DEFECT, FOLATE-SENSITIVE

601635 NEURAL TUBE DEFECT, FOLATE-RESISTANT

601820 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY

601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, ALPS

601920 JAGGED 1; JAG1

602074 DEATH-ASSOCIATED PROTEIN 3; DAP3

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602230 SH3-BINDING DOMAIN GLUTAMIC ACID-RICH PROTEIN; SH3BGR

602390 HEMOCHROMATOSIS, TYPE 2; HFE2

602406 HEART AND NEURAL CREST DERIVATIVES EXPRESSED 1; HAND1

602407 HEART AND NEURAL CREST DERIVATIVES EXPRESSED 2; HAND2

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

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

602574 TECTORIN, ALPHA; TECTA

602627 CELL DIVISION CYCLE 18, S. POMBE, HOMOLOG-LIKE; CDC18L

602675 ARGINYL AMINOPEPTIDASE; RNPEP

602740 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1

602741 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-2; PRKAB2

602809 KINESIN FAMILY MEMBER 5B; KIF5B

602821 KINESIN FAMILY MEMBER 5C; KIF5C

602971 TUBULIN-SPECIFIC CHAPERONE C; TBCC

602998 SYNUCLEIN, GAMMA; SNCG

603152 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT F6;

603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

603732 CRYPTOCHROME 2; CRY2

603736 YOUNG-SIMPSON SYNDROME

603744 PAPILLARY THYROID MICROCARCINOMA

603767 PROTEASE, SERINE, 17; PRSS17

603776 HYPERCHOLESTEROLEMIA, FAMILIAL, 3

603809 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 150-KD SUBUNIT

603810 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 80-KD SUBUNIT

603811 BREAKPOINT CLUSTER REGION PROTEIN 1

603812 BREAKPOINT CLUSTER REGION PROTEIN 2

603817 ADP-RIBOSYLATION FACTOR-DIRECTED GTPase-ACTIVATING PROTEIN

Clinical Synopsis for 113705 BREAST CANCER, TYPE 1; BRCA1

Mini-MIM for 154700 MARFAN SYNDROME; MFS

Mini-MIM for 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1

Clinical Synopsis for 188400 DIGEORGE SYNDROME; DGS

Mini-MIM for 188400 DIGEORGE SYNDROME; DGS

Clinical Synopsis for 191170 TUMOR PROTEIN p53; TP53

Clinical Synopsis for 300063 IMMUNE DYSREGULATION, NEONATAL INSULIN-DEPENDENT DIABETES, AND DIARRHEA,

May 14, 1999

Changed Entries:

111680 RHESUS BLOOD GROUP, D ANTIGEN; RHD

168820 PARAOXONASE 1; PON1

208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES

213700 CEREBROTENDINOUS XANTHOMATOSIS

227400 FACTOR V DEFICIENCY

243305 INVERSIN

244400 KARTAGENER SYNDROME

270100 SITUS INVERSUS VISCERUM

273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI

276900 USHER SYNDROME, TYPE IA; USH1A

276901 USHER SYNDROME, TYPE IIA; USH2A

600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

600927 CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D

601877 ENDOMETRIAL BLEEDING-ASSOCIATED FACTOR; EBAF

603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11

May 13, 1999

New Entries:

603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN

Changed Entries:

100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ

117650 CEREBROCOSTOMANDIBULAR SYNDROME

120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6

138275 GLUTAMIC ACID DECARBOXYLASE 2; GAD2

151740 ANNEXIN II; ANX2

154040 MAJOR HISTOCOMPATIBILITY COMPLEX GENE RD

156570 METHYLTETRAHYDROFOLATE:L-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR

160993 N-MYRISTOYLTRANSFERASE 1; NMT1

170261 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,

180200 RETINOBLASTOMA; RB1

180740 SMALL NUCLEAR RIBONUCLEOPROTEIN, 70-KD; SNRP70

186810 T-CELL ANTIGEN RECEPTOR, DELTA SUBUNIT; TCRD

186880 T-CELL ANTIGEN RECEPTOR, ALPHA SUBUNIT; TCRA

186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB

186940 T-CELL ANTIGEN T4/LEU3; CD4

189971 E2F TRANSCRIPTION FACTOR 1; E2F1

190195 TRANSGLUTAMINASE 1; TGM1

190196 TRANSGLUTAMINASE 2; TGM2

212750 CELIAC DISEASE; CD

236250 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

266100 PYRIDOXINE DEPENDENCY WITH SEIZURES

266150 PYRUVATE CARBOXYLASE DEFICIENCY

270710 FITZSIMMONS-GUILBERT SYNDROME

600238 TRANSGLUTAMINASE 3; TGM3

600585 TRANSGLUTAMINASE 4, PROSTATE; TGM4

600959 COATOMER PROTEIN COMPLEX, SUBUNIT BETA; COPB

601634 NEURAL TUBE DEFECT, FOLATE-SENSITIVE

601674 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 1; EZH1

602408 THYROID HORMONE RECEPTOR, ALPHA-1-LIKE; THRAL

602630 TG-INTERACTING FACTOR; TGIF

603805 TRANSGLUTAMINASE 5; TGM5

Mini-MIM for 194050 WILLIAMS-BEUREN SYNDROME; WBS

May 12, 1999

New Entries:

603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;

603801 N-MYRISTOYLTRANSFERASE 2; NMT2

603803 DACHSHUND, DROSOPHILA, HOMOLOG OF; DACH

603804 NEURALIZED, DROSOPHILA, HOMOLOG-LIKE; NEURL

603805 TRANSGLUTAMINASE 5; TGM5

Mini-MIM for 194050 WILLIAMS-BEUREN SYNDROME; WBS

Changed Entries:

118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA

130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

160993 N-MYRISTOYLTRANSFERASE 1; NMT1

164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI

165340 SKI-LIKE; SKIL

168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1

176300 TRANSTHYRETIN; TTR

177400 BUTYRYLCHOLINESTERASE; BCHE

190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS

190315 SOLUTE CARRIER FAMILY 20, MEMBER 3; SLC20A3

192430 VELOCARDIOFACIAL SYNDROME

194050 WILLIAMS-BEUREN SYNDROME; WBS

219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS

269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME

302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2

313700 ANDROGEN RECEPTOR; AR

600576 GATA-BINDING PROTEIN 4; GATA4

600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST

600842 GLUCOKINASE REGULATORY PROTEIN; GCKR

600919 LONG QT SYNDROME 4; LQT4

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602216 SERINE/THREONINE PROTEIN KINASE 11; STK11

602457 FAS-ASSOCIATED VIA DEATH DOMAIN; FADD

603453 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 1; RIPK1

603455 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 2; RIPK2

603782 SMALL INDUCIBLE CYTOKINE A4-LIKE; SCYA4L

603789 TRANSCRIPTION ELONGATION FACTOR A (SII)-LIKE 1; TCEAL1

Mini-MIM for 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41

Mini-MIM for 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1

Mini-MIM for 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;

Mini-MIM for 188400 DIGEORGE SYNDROME; DGS

Clinical Synopsis for 219700 CYSTIC FIBROSIS; CF

Mini-MIM for 222100 DIABETES MELLITUS, INSULIN-DEPENDENT, 1; IDDM1

Mini-MIM for 244400 KARTAGENER SYNDROME

Mini-MIM for 306700 HEMOPHILIA A

May 11, 1999

New Entries:

300187 SUSHI REPEAT-CONTAINING PROTEIN, X CHROMOSOME; SRPX

603769 T-CELL LYMPHOMA/LEUKEMIA 1B; TCL1B

603776 HYPERCHOLESTEROLEMIA, FAMILIAL, 3

603782 SMALL INDUCIBLE CYTOKINE A4-LIKE

603783 COGNITIVE ABILITY, GENERAL

603784 CHROMOSOME 21 OPEN READING FRAME 1; C21ORF1

603785 MULTIPLE PDZ DOMAIN PROTEIN; MPDZ

603786 STARGARDT DISEASE 4; STGD4

603787 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY F, MEMBER 1; KCNF1

603788 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 1; KCNG1

603789 TRANSCRIPTION ELONGATION FACTOR A (SII)-LIKE 1; TCEAL1

603790 SODIUM-DEPENDENT VITAMIN C TRANSPORTER 1

603791 SODIUM-DEPENDENT VITAMIN C TRANSPORTER 2

603792 CYTOCHROME c OXIDASE, SUBUNIT VIIb; COX7B

603793 DEAD/H BOX 7; DDX7

603794 HYDROA VACCINIFORME, FAMILIAL

603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR

603797 CARBOHYDRATE SULFOTRANSFERASE 1; CHST1

603798 CARBOHYDRATE SULFOTRANSFERASE 2; CHST2

603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3

603800 SUPPRESSOR OF RNA POLYMERASE B 7, S. CEREVISIAE, HOMOLOG OF; SURB7

Mini-MIM for 177400 BUTYRYLCHOLINESTERASE; BCHE

Mini-MIM for 180200 RETINOBLASTOMA; RB1

Mini-MIM for 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1

Mini-MIM for 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS

Changed Entries:

101200 APERT SYNDROME

103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO

104530 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE

108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1

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

114350 NUCLEOPORIN, 214-KD; NUP214

117139 CENTROMERIC PROTEIN A; CENPA

118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4

118507 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2

121015 GAP JUNCTION PROTEIN, ALPHA-3, 46-KD; GJA3

122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6

123280 CREATINE KINASE, BRAIN TYPE; CKB

123400 CREUTZFELDT-JAKOB DISEASE; CJD

123695 PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, ALPHA ISOFORM; PCYT1A

123930 CYTOCHROME P450, SUBFAMILY IIB; CYP2B

123960 CYTOCHROME P450, SUBFAMILY IIA; CYP2A

124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4

124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2

125647 DESMOPLAKIN; DSP

126380 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1

130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT

133520 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4

133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION

134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6

134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6

137168 GAMMA-GLUTAMYLTRANSFERASE-LIKE ACTIVITY1; GGTLA1

139320 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE

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

143100 HUNTINGTON DISEASE; HD

146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION

147050 IgE RESPONSIVENESS, ATOPIC; IGER

147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1

147570 INTERFERON, GAMMA; IFNG

147920 KABUKI SYNDROME

149750 LACTALBUMIN, ALPHA; LALBA

150220 LACTOSE INTOLERANCE, CONGENITAL

150230 LANGER-GIEDION SYNDROME; LGS

150550 LAZY LEUKOCYTE SYNDROME

150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET

150800 LEIOMYOMATA, HEREDITARY MULTIPLE, OF SKIN

151210 THANATOPHORIC DYSPLASIA VARIANTS

151410 BREAKPOINT CLUSTER REGION; BCR

151442 LEUKEMIA-ASSOCIATED PHOSPHOPROTEIN p18; LAP18

151450 LEUKOCYTE ANTIGEN GROUP FIVE; LAG5

151620 LICHEN PLANUS, FAMILIAL

151690 ANNEXIN I; ANX1

152392 ARACHIDONATE 15-LIPOXYGENASE; ALOX15

152427 LONG QT SYNDROME 2; LQT2

152445 LORICRIN; LOR

153470 MACROCEPHALY, BENIGN FAMILIAL

153480 MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA

153900 STARGARDT DISEASE 2; STGD2

154360 MALTASE-GLUCOAMYLASE

154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME 1; TCOF1

154570 MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE

155050 MAXILLONASAL DYSPLASIA, BINDER TYPE

155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA

155350 MEGALENCEPHALY

155555 MELANOCORTIN 1 RECEPTOR; MC1R

155600 MELANOMA, MALIGNANT

155900 MELKERSSON SYNDROME

157650 MITOCHONDRIAL MYOPATHY, LIPID TYPE

157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP

157800 MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL

157900 MOEBIUS SYNDROME; MBS

158320 MUIR-TORRE SYNDROME; MTS

158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS

158580 MYOPATHY, DISTAL, WITH VOCAL CORD AND PHARYNGEAL WEAKNESS

158700 MUSCULAR ATROPHY, PROGRESSIVE, WITH AMYOTROPHIC LATERAL SCLEROSIS

159440 MYELIN PROTEIN ZERO; MPZ

159700 MYOCLONUS AND ATAXIA

160800 MYOTONIA CONGENITA, DOMINANT

161200 NAIL-PATELLA SYNDROME; NPS

161560 INTERLEUKIN 12A; IL12A

161561 INTERLEUKIN 12B; IL12B

162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

163890 SYNUCLEIN, ALPHA; SNCA

164200 OCULODENTODIGITAL DYSPLASIA; ODDD

164330 ODONTOMA-DYSPHAGIA SYNDROME

164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT

166200 OSTEOGENESIS IMPERFECTA, TYPE I

166230 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN

166450 OSTEOMESOPYKNOSIS

166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II

167030 OXALATE, INCREASED MEMBRANE TRANSPORT FOR

167750 PANCREAS, ANNULAR

167800 PANCREATITIS, HEREDITARY; PCTT

168500 PARIETAL FORAMINA, SYMMETRIC; PFM

168885 PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA

169100 PATENT DUCTUS ARTERIOSUS; PDA

170390 PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE

170400 PERIODIC PARALYSIS I

171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2

171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA

171500 PHOSPHATASE, ACID, OF ERYTHROCYTE; ACP1

171900 PHOSPHOGLUCOMUTASE 1; PGM1

173360 PLASMINOGEN ACTIVATOR INHIBITOR, TYPE 1; PAI1

173700 POIKILODERMA, HEREDITARY SCLEROSING

173900 POLYCYSTIC KIDNEYS

174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1

174100 POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES

174700 POLYDACTYLY, PREAXIAL IV

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

175200 PEUTZ-JEGHERS SYNDROME; PJS

175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

175860 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP

176100 PORPHYRIA CUTANEA TARDA

176300 TRANSTHYRETIN; TTR

176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI

176893 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, GAMMA; PRKACG

176920 PROTEUS SYNDROME

176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

177060 PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH

177061 MYRISTOYLATED ALANINE-RICH PROTEIN KINASE C SUBSTRATE; MACS

177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES

179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS

180200 RETINOBLASTOMA; RB1

180472 RIBOSOMAL PROTEIN S17; RPS17

180849 RUBINSTEIN SYNDROME

182115 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS 1; PSCD1

182283 SMALL INDUCIBLE CYTOKINE A3; SCYA3

182284 SMALL INDUCIBLE CYTOKINE A4; SCYA4

182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1

186960 T-CELL LEUKEMIA/LYMPHOMA 1A; TCL1A

186973 T-CELL TYROSINE KINASE EMT; EMT

187011 SMALL INDUCIBLE CYTOKINE A5; SCYA5

191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2

191092 TUBEROUS SCLEROSIS 2; TSC2

191100 TUBEROUS SCLEROSIS 1; TSC1

191740 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1; UGT1

192500 LONG QT SYNDROME 1

194050 WILLIAMS-BEUREN SYNDROME; WBS

194190 WOLF-HIRSCHHORN SYNDROME; WHS

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

203500 ALKAPTONURIA

207900 ARGININOSUCCINICACIDURIA

209500 ATRICHIA WITH PAPULAR LESIONS; APL

210600 BIRD-HEADED DWARFISM

222900 DISACCHARIDE INTOLERANCE I

231950 GLUTATHIONURIA

235200 HEMOCHROMATOSIS; HFE

249000 MECKEL SYNDROME; MKS

250250 CARTILAGE-HAIR HYPOPLASIA; CHH

253250 MULIBREY NANISM; MUL

256710 NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

261600 PHENYLKETONURIA

271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE

272120 SUDDEN INFANT DEATH SYNDROME

300000 OPITZ SYNDROME

300078 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1; NDUFA1

300114 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 49; MRX49

300135 ATP-BINDING CASSETTE 7; ABC7

300182 CHROMOSOME X OPEN READING FRAME 4; CXORF4

300187 SUSHI REPEAT-CONTAINING PROTEIN, X CHROMOSOME; SRPX

301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT

304040 GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1

306995 HOMOSEXUALITY 1; HMS1

309900 MUCOPOLYSACCHARIDOSIS TYPE II

310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER

310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY

310400 MYOTUBULAR MYOPATHY 1; MTM1

310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY

310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1

311360 PREMATURE OVARIAN FAILURE 1; POF1

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

312610 RETINITIS PIGMENTOSA 3; RP3

312865 SHORT STATURE; SS

312870 SIMPSON DYSMORPHIA SYNDROME; SDYS

313400 SPONDYLOEPIPHYSEAL DYSPLASIA, LATE; SEDL

516040 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT II; MTCO2

600058 PROTEIN TYROSINE KINASE TXK; TXK

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

600326 DEAD/H BOX 6; DDX6

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 1; EIF4G1

600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2

600537 RECQ PROTEIN-LIKE; RECQL

600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

600695 TRANSCRIPTION ELONGATION FACTOR B (SIII), 1-LIKE; TCEB1L

600719 NITRIC OXIDE SYNTHASE, MACROPHAGE, TYPE 2B; NOS2B

600720 NITRIC OXIDE SYNTHASE, MACROPHAGE, TYPE 2C; NOS2C

600723 MEMBRANE PROTEIN, PALMITOYLATED 2; MPP2

600787 TRANSCRIPTION ELONGATION FACTOR B (SIII), 2; TCEB2

600788 TRANSCRIPTION ELONGATION FACTOR B (SIII), 1; TCEB1

600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C

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

600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

600919 LONG QT SYNDROME 4; LQT4

601002 GLUTATHIONE SYNTHETASE; GSS

601014 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 1; DLG1

601114 MEMBRANE PROTEIN, PALMITOYLATED 3; MPP3

601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9

601255 AXONAL TRANSPORTER OF SYNAPTIC VESICLES; ATSV

601391 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 13; SCYA13

601392 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 14; SCYA14

601393 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 15; SCYA15

601394 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 16; SCYA16

601395 SMALL INDUCIBLE CYTOKINE A3-LIKE 1: SCYA3L1

601400 SQUAMOUS CELL CARCINOMA, HEAD AND NECK

601498 PEROXISOME BIOGENESIS FACTOR 6; PEX6

601567 LECTIN, MANNOSE-BINDING, 1; LMAN1

601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1

601620 T-BOX 5; TBX5

601691 ATP-BINDING CASSETTE TRANSPORTER, RETINA-SPECIFIC; ABCR

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, ALPS

601863 REGULATORY FACTOR 5; RFX5

601885 CATARACT, ZONULAR PULVERULENT 3; CZP3

602062 NERVE INJURY-INDUCED PROTEIN 1; NINJ1

602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2

602299 RAS-ASSOCIATED PROTEIN RAB9; RAB9

602302 HAIRLESS, MOUSE, HOMOLOG OF; HR

602325 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 2; EIF4G2

602390 HEMOCHROMATOSIS, TYPE 2

602464 TNF RECEPTOR-ASSOCIATED FACTOR 4; TRAF4

602544 PARKIN; PARK2

602668 DYSTROPHIA MYOTONICA 2; DM2

602671 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1

602759 PREDISPOSING FOR PROSTATE CANCER; PCAP

602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4

603009 DYSFERLIN; DYSF

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

603454 CASP2 AND RIPK1 DOMAIN-CONTAINING ADAPTOR WITH DEATH DOMAIN; CRADD

603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5

603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2

603558 MYOTUBULARIN-RELATED PROTEIN 3; MTMR3

603559 MYOTUBULARIN-RELATED PROTEIN 4; MTMR4

603561 MYOTUBULARIN-RELATED PROTEIN 6; MTMR6

603562 MYOTUBULARIN-RELATED PROTEIN 7; MTMR7

603583 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 2; DLG2

603584 MAP KINASE-ACTIVATING DEATH DOMAIN

603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR

603612 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10B; TNFRSF10B

603757 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 18; SCYA18

603780 RECQ PROTEIN-LIKE 4; RECQL4

603781 RECQ PROTEIN-LIKE 5; RECQL5

603783 COGNITIVE ABILITY, GENERAL

603786 STARGARDT DISEASE 4; STGD4

Mini-MIM for 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41

Mini-MIM for 180200 RETINOBLASTOMA; RB1

Mini-MIM for 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;

Mini-MIM for 188400 DIGEORGE SYNDROME; DGS

Clinical Synopsis for 219700 CYSTIC FIBROSIS; CF

Mini-MIM for 222100 DIABETES MELLITUS, INSULIN-DEPENDENT, 1; IDDM1

Mini-MIM for 244400 KARTAGENER SYNDROME

Clinical Synopsis for 304040 GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1

Mini-MIM for 306700 HEMOPHILIA A