PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for July, 2009

July 31, 2009

New Entries:

612899 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8

612943 RETINITIS PIGMENTOSA 42; RP42

Changed Entries:

103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA

107741 APOLIPOPROTEIN E; APOE

119500 POPLITEAL PTERYGIUM SYNDROME; PPS

123920 CYTIDINE DEAMINASE; CDA

144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK

150000 LACTATE DEHYDROGENASE A; LDHA

150150 LACTATE DEHYDROGENASE C; LDHC

190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB

191100 TUBEROUS SCLEROSIS; TS

268000 RETINITIS PIGMENTOSA; RP

300244 TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS

309550 FMR1 GENE; FMR1

311360 PREMATURE OVARIAN FAILURE 1; POF1

312750 RETT SYNDROME; RTT

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

600725 SONIC HEDGEHOG; SHH

600791 ENLARGED VESTIBULAR AQUEDUCT; EVA

601199 CALCIUM-SENSING RECEPTOR; CASR

601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL

605078 TAR DNA-BINDING PROTEIN; TARDBP

607490 LACTATE DEHYDROGENASE D; LDHD

607606 KERATIN 9; KRT9

611119 KELCH-LIKE 7; KLHL7

612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10

612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2

612933 GLYCOGEN STORAGE DISEASE XI; GSD11

July 30, 2009

New Entries:

612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 2, SUSCEPTIBILITY TO; AHUS2

612923 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3

612924 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4

612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5

612926 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6

612931 PHOSPHOGLYCERATE MUTASE 2; PGAM2

612932 GLYCOGEN STORAGE DISEASE XIII; GSD13

612933 GLYCOGEN STORAGE DISEASE XI; GSD11

612944 RIBONUCLEASE T2; RNASET2

612945 RAS-ASSOCIATED PROTEIN RAB4B; RAB4B

Changed Entries:

120700 COMPLEMENT COMPONENT 3; C3

120920 MEMBRANE COFACTOR PROTEIN; MCP

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

138470 COMPLEMENT FACTOR B; CFB

150000 LACTATE DEHYDROGENASE-A; LDHA

152430 LONGEVITY 1

154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2

168820 PARAOXONASE 1; PON1

179511 RAS-ASSOCIATED PROTEIN RAB4; RAB4

188040 THROMBOMODULIN; THBD

217030 COMPLEMENT FACTOR I; CFI

235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

502000 AGING

601367 STROKE, ISCHEMIC

603030 TOLL-LIKE RECEPTOR 4; TLR4

604694 A-KINASE ANCHOR PROTEIN 10; AKAP10

611494 ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5

611881 GLYCOGEN STORAGE DISEASE XII; GSD12

July 29, 2009

New Entries:

612942 RAS-ASSOCIATED PROTEIN RAB25; RAB25

Changed Entries:

107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

114500 COLORECTAL CANCER; CRC

120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1

132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE

141900 HEMOGLOBIN--BETA LOCUS; HBB

142900 HOLT-ORAM SYNDROME; HOS

143100 HUNTINGTON DISEASE; HD

160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6

164210 HEMIFACIAL MICROSOMIA; HFM

188000 THROMBOCYTOPENIA 2; THC2

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

211530 BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS

211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

236640 HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS

236670 WALKER-WARBURG SYNDROME; WWS

238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME

253280 MUSCLE-EYE-BRAIN DISEASE; MEB

256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

265950 PYLORIC ATRESIA

275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL

300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A

300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

300607 HYPEREKPLEXIA AND EPILEPSY

600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM

602204 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 1; BICD1

605536 RAB11 FAMILY-INTERACTING PROTEIN 5; RAB11FIP5

605899 GLYCINE ENCEPHALOPATHY; GCE

606254 SELENOPROTEIN, 15-KD

608272 NEURAMINIDASE 1; NEU1

608599 RAB11 FAMILY-INTERACTING PROTEIN 2; RAB11FIP2

608738 RAB11 FAMILY-INTERACTING PROTEIN 3; RAB11FIP3

609122 ANEURYSM, INTRACRANIAL BERRY, 3

July 28, 2009

New Entries:

300791 NIK-RELATED KINASE; NRK

612934 GLYCOGEN STORAGE DISEASE XIV; GSD14

612935 MYOSIN PHOSPHATASE RHO-INTERACTING PROTEIN; MPRIP

612939 HEAT-SHOCK 70-KD PROTEIN-BINDING PROTEIN 1; HSPBP1

612941 PRECURSOR mRNA-PROCESSING FACTOR 40, S. CEREVISIAE, HOMOLOG OF, A;

Changed Entries:

103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA

131370 ENOLASE 3; ENO3

138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES

146390 CHROMOSOME 18p DELETION SYNDROME

171900 PHOSPHOGLUCOMUTASE 1; PGM1

178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

188550 THYROID CARCINOMA, PAPILLARY

189490 MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA

274500 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A

300017 FILAMIN A; FLNA

304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2

305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD

309350 MELNICK-NEEDLES SYNDROME; MNS

311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

313550 REMOVED FROM DATABASE

601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3

604666 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 4; MAP4K4

605388 CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE

607207 STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1

607606 KERATIN 9; KRT9

608005 SIL1, S. CEREVISIAE, HOMOLOG OF; SIL1

609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

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

610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3

611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4

611881 GLYCOGEN STORAGE DISEASE XII

612790 RGNEF, MOUSE, HOMOLOG OF

612884 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENOQ2

612900 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2

612934 GLYCOGEN STORAGE DISEASE XIV; GSD14

Clinical Synopsis for 313550 REMOVED FROM DATABASE

Clinical Synopsis for 603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE

July 27, 2009

New Entries:

612927 AVL9, S. CEREVISIAE, HOMOLOG OF; AVL9

612928 ISOCHORISMATASE DOMAIN-CONTAINING 2; ISOC2

612929 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3

612930 PHOSPHOTYROSINE INTERACTION DOMAIN-CONTAINING 1; PID1

Changed Entries:

101850 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE III; PPKP3

144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK

148600 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; PPKP1

155540 MELANOCORTIN 3 RECEPTOR; MC3R

175860 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II; PPKP2

179613 RECOMBINANT CHROMOSOME 8 SYNDROME

600734 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 5; KCNJ5

600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK

601665 OBESITY

603169 CATHEPSIN Z; CTSZ

606658 SPINOCEREBELLAR ATAXIA 15; SCA15

606953 UDP-GALACTOSE-4-EPIMERASE; GALE

607606 KERATIN 9; KRT9

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

612927 AVL9, S. CEREVISIAE, HOMOLOG OF; AVL9

July 24, 2009

New Entries:

612881 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION

Clinical Synopsis for 400043 DEAFNESS, Y-LINKED 1; DFNY1

Clinical Synopsis for 610283 CONE-ROD DYSTROPHY 10; CORD10

Clinical Synopsis for 610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3

Clinical Synopsis for 611884 CILIARY DYSKINESIA, PRIMARY, 7; CILD7

Clinical Synopsis for 611907 EPISODIC ATAXIA, TYPE 7; EA7

Clinical Synopsis for 612726 HARDIKAR SYNDROME

Clinical Synopsis for 612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND

Changed Entries:

103780 ALCOHOL DEPENDENCE

104650 AMYLASE, PANCREATIC, A; AMY2A

127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

147380 INHIBIN, ALPHA; INHA

164160 LEPTIN; LEP

180100 RETINITIS PIGMENTOSA 1; RP1

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

224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE

232600 GLYCOGEN STORAGE DISEASE V

300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC

305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD

311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

606470 NUCLEOLAR PROTEIN FAMILY A, MEMBER 2; NOLA2

608518 OROFACIODIGITAL SYNDROME VII; OFD7

610283 CONE-ROD DYSTROPHY 10; CORD10

Clinical Synopsis for 125350 FAILURE OF TOOTH ERUPTION, PRIMARY; PFE

Clinical Synopsis for 158000 MONILETHRIX

Clinical Synopsis for 158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Clinical Synopsis for 168605 PERRY SYNDROME

Clinical Synopsis for 179613 RECOMBINANT CHROMOSOME 8 SYNDROME

Clinical Synopsis for 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP

Clinical Synopsis for 215700 CITRULLINEMIA, CLASSIC

Clinical Synopsis for 219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II

Clinical Synopsis for 231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD

Clinical Synopsis for 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA

Clinical Synopsis for 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID

Clinical Synopsis for 274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Clinical Synopsis for 300143 MENTAL RETARDATION, X-LINKED 21; MRX21

July 23, 2009

New Entries:

612876 SPINOCEREBELLAR ATAXIA 9; SCA9

Changed Entries:

105800 ANEURYSM, INTRACRANIAL BERRY, 1

114480 BREAST CANCER

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

152430 LONGEVITY 1

171900 PHOSPHOGLUCOMUTASE 1; PGM1

194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION

231000 GAUCHER DISEASE, TYPE III

235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL

250100 METACHROMATIC LEUKODYSTROPHY

265900 PYLE DISEASE

300017 FILAMIN A; FLNA

300440 NFKB-REPRESSING FACTOR; NKRF

300780 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A1; CT47A1

300781 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A2; CT47A2

300782 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A3; CT47A3

300783 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A4; CT47A4

300784 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A5; CT47A5

300785 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A6; CT47A6

300786 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A7; CT47A7

300787 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A8; CT47A8

300788 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A9; CT47A9

300789 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A10; CT47A10

300790 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER B1; CT47B1

309850 MONOAMINE OXIDASE A; MAOA

311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

600181 LIPOCALIN 2; LCN2

603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

606460 LONGEVITY 2

607207 STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1

608363 CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME

609020 FOLATE HYDROLASE 1B; FOLH1B

609211 MYOSIN, LIGHT CHAIN 12B, REGULATORY; MYL12B

610640 YTH DOMAIN FAMILY MEMBER 2; YTHDF2

612795 POLYUNSATURATED FATTY ACIDS PLASMA LEVEL QUANTITATIVE TRAIT LOCUS

612841 MARIE UNNA HEREDITARY HYPOTRICHOSIS 2; MUHH2

612853 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7

612869 ATTRACTIN-LIKE 1; ATRNL1

612870 PLECKSTRIN HOMOLOGY DOMAIN-INTERACTING PROTEIN; PHIP

612874 ERYTHROCYTE AMP DEAMINASE DEFICIENCY

612875 GONADOTROPIN-RELEASING HORMONE RECEPTOR 2; GNRHR2

612878 EXOPHILIN 5; EXPH5

612879 MAM DOMAIN-CONTAINING 2; MAMDC2

612880 SYNAPTOTAGMIN-LIKE 2; SYTL2

612882 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENAQ2

612883 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 3; MENAQ3

612887 SEPTIN 11; SEPT11

612913 OROFACIODIGITAL SYNDROME XI; OFD11

Clinical Synopsis for 124300 DARWINIAN TUBERCLE OF PINNA

July 22, 2009

Changed Entries:

136680 FRASIER SYNDROME

137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER

141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

153456 LYSYL OXIDASE-LIKE 1; LOXL1

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

177650 EXFOLIATION SYNDROME; XFS

194070 WILMS TUMOR 1; WT1

194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION

202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1

240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID

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

259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO

270750 SPASTIC PARAPLEGIA 23; SPG23

300451 ECTODYSPLASIN A; EDA

600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA

601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

604426 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 2; CYP4F2

604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B

605921 STROMAL INTERACTION MOLECULE 1; STIM1

605935 ARTHROPATHY, EROSIVE

605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1

606158 BSCL2 GENE; BSCL2

607102 WT1 GENE; WT1

610277 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 1; ORAI1

610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3

610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5

612852 INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY

July 21, 2009

Changed Entries:

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

118420 CHIARI MALFORMATION TYPE I

135150 BIRT-HOGG-DUBE SYNDROME; BHD

136680 FRASIER SYNDROME

146550 MARIE UNNA HEREDITARY HYPOTRICHOSIS 1; MUHH1

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

147450 SUPEROXIDE DISMUTASE 1; SOD1

155550 SILVER, MOUSE, HOMOLOG OF; SILV

163950 NOONAN SYNDROME 1; NS1

164950 FIBROBLAST GROWTH FACTOR 3; FGF3

176266 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1

230000 FUCOSIDOSIS

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

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

262300 ACHROMATOPSIA 3; ACHM3

300169 APOPTOSIS-INDUCING FACTOR, MITOCHONDRION-ASSOCIATED, 1; AIFM1

305370 TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1

312600 RETINITIS PIGMENTOSA 2; RP2

600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED

602438 HEAT-SHOCK TRANSCRIPTION FACTOR 4; HSF4

603903 SICKLE CELL ANEMIA

604267 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 8; MEGF8

605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3

605109 HECT DOMAIN AND RCC1-LIKE DOMAIN 1; HERC1

605158 PEROXIDASIN, DROSOPHILA, HOMOLOG OF; PXDN

605159 APOPTOSIS-INDUCING FACTOR, MITOCHONDRION-ASSOCIATED, 2; AIFM2

605276 APOPTOSIS-ASSOCIATED TYROSINE KINASE; AATK

605754 PHOSPHATIDYLINOSITOL GLYCAN, CLASS Q; PIGQ

607102 WT1 GENE; WT1

607273 FOLLICULIN; FLCN

607837 CLN8 GENE; CLN8

607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

608978 MEACHAM SYNDROME

610733 NOONAN SYNDROME 4; NS4

611500 MICRO RNA 219-1; MIRN219-1

612841 MARIE UNNA HEREDITARY HYPOTRICHOSIS 2; MUHH2

July 20, 2009

Changed Entries:

102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1

123400 CREUTZFELDT-JAKOB DISEASE; CJD

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

147571 UBIQUITIN-LIKE MODIFIER ISG15; ISG15

147582 IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 2; IREB2

151100 LEOPARD SYNDROME 1

165070 FMS-RELATED TYROSINE KINASE 1; FLT1

176640 PRION PROTEIN; PRNP

223100 LACTASE PERSISTENCE

274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP

600072 FATAL FAMILIAL INSOMNIA; FFI

600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8

601613 CHEMOKINE, CXC MOTIF, RECEPTOR 5; CXCR5

601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6

601990 TUMOR PROTEIN p73; TP73

603030 TOLL-LIKE RECEPTOR 4; TLR4

603031 TOLL-LIKE RECEPTOR 5; TLR5

603353 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER

604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1

605063 STRESS-INDUCED PHOSPHOPROTEIN 1; STIP1

605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13

605242 USH1C GENE; USH1C

605921 STROMAL INTERACTION MOLECULE 1; STIM1

606796 SUPPRESSION OF TUMORIGENICITY 13; ST13

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

608400 USH2A GENE; USH2A

610355 PARTNER AND LOCALIZER OF BRCA2; PALB2

July 17, 2009

New Entries:

612918 CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL

612919 LanC-LIKE 2; LANCL2

612920 CHROMOSOME 21 OPEN READING FRAME 29; C21ORF29

Changed Entries:

107741 APOLIPOPROTEIN E; APOE

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

156530 METATROPIC DYSPLASIA

157860 MOVED TO 142860

163890 SYNUCLEIN, ALPHA; SNCA

165070 FMS-RELATED TYROSINE KINASE 1; FLT1

176267 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER

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

184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK

252100 MOHR SYNDROME

258850 OROFACIODIGITAL SYNDROME III; OFD3

258860 OROFACIODIGITAL SYNDROME IV; OFD4

277170 OROFACIODIGITAL SYNDROME VI; OFD6

300029 RETINITIS PIGMENTOSA 3; RP3

300389 MOVED TO 300029

311200 OROFACIODIGITAL SYNDROME I; OFD1

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600221 TEK TYROSINE KINASE, ENDOTHELIAL; TEK

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

600311 GRANZYME M; GZMM

600783 HISTIDYL-tRNA SYNTHETASE 2; HARS2

601263 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2

601667 ANGIOPOIETIN 1; ANGPT1

601916 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS; ARMET

602316 PEROXIREDOXIN 6; PRDX6

603165 DERMATITIS, ATOPIC

603749 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2;

604155 LanC-LIKE 1; LANCL1

605079 SAL-LIKE 3; SALL3

605170 ETOPOSIDE-INDUCED 1.4 mRNA; EI24

605220 APOLIPOPROTEIN B48 RECEPTOR

605255 ETS VARIANT GENE 7; ETV7

605292 5-PRIME-@NUCLEOTIDASE, MITOCHONDRIAL; NT5M

605356 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,

605383 INTERLEUKIN 21 RECEPTOR; IL21R

605384 INTERLEUKIN 21; IL21

605443 PROSTATE-SPECIFIC GENE PCGEM1; PCGEM1

605467 ZINC FINGER PROTEIN 274; ZNF274

605468 CDC42 EFFECTOR PROTEIN 4; CDC42EP4

605562 SECRETOGLOBIN, FAMILY 2A, MEMBER 2; SCGB2A2

605586 IMPORTIN 7; IPO7

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

605671 DMX-LIKE 1; DMXL1

605674 B-CELL TRANSLOCATION GENE 3; BTG3

605710 GDNF FAMILY RECEPTOR ALPHA-3; GFRA3

606416 NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; NLRP3

606636 NLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1

606809 ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 3; ACBD3

606831 NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 4; NLRC4

607090 SYF2, S. CEREVISIAE, HOMOLOG OF; SYF2

607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI

608291 TUBULIN-TYROSINE LIGASE; TTL

608518 OROFACIODIGITAL SYNDROME VII; OFD7

610097 OUTER DENSE FIBER OF SPERM TAILS 4; ODF4

610277 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 1; ORAI1

610841 STROMAL INTERACTION MOLECULE 2; STIM2

610905 MOVED TO 225750

610929 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 2; ORAI2

610930 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 3; ORAI3

612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7

612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

612800 CYSTEINYL-tRNA SYNTHETASE 2; CARS2

612801 ISOLEUCYL-tRNA SYNTHETASE 2; IARS2

612802 VALYL-tRNA SYNTHETASE 2; VARS2

612803 ASPARAGINYL-tRNA SYNTHETASE 2; NARS2

612804 SERYL-tRNA SYNTHETASE 2; SARS2

612805 THREONYL-tRNA SYNTHETASE 2; TARS2

612807 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612808 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612809 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612810 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612811 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612812 PROFILIN 3; PFN3

612813 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

612814 SPERMATOGENESIS-ASSOCIATED PROTEIN 18; SPATA18

612815 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 13; ZDHHC13

612816 UTP18, S. CEREVISIAE, HOMOLOG OF; UTP18

612818 NUCLEOLAR AND SPINDLE-ASSOCIATED PROTEIN 1; NUSAP1

612819 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 4, S. CEREVISIAE, HOMOLOG OF;

612852 INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY

612916 ZECHI-CEIDE SYNDROME

July 16, 2009

New Entries:

612907 tRNA NUCLEOTIDYLTRANSFERASE, CCA-ADDING, 1; TRNT1

612908 KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2

612909 RAS-ASSOCIATED PROTEIN RAB6C; RAB6C

612910 PHD FINGER PROTEIN 23; PHF23

612911 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 3; NDUFAF3

612912 TRANSMEMBRANE PROTEIN 97; TMEM97

612913 OROFACIODIGITAL SYNDROME XI; OFD11

612914 MEDIATOR COMPLEX SUBUNIT 29; MED29

612915 MEDIATOR COMPLEX SUBUNIT 20; MED20

612916 ZECHI-CEIDE SYNDROME

612917 GIACHETI SYNDROME

Clinical Synopsis for 612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE

Changed Entries:

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

103600 ALBUMIN; ALB

104311 PRESENILIN 1; PSEN1

105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1; ALSFTD1

109720 BILIARY CIRRHOSIS, PRIMARY; PBC

112262 BONE MORPHOGENETIC PROTEIN 4; BMP4

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

113800 EPIDERMOLYTIC HYPERKERATOSIS; EHK

120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1

120970 CONE-ROD DYSTROPHY 2; CORD2

123050 CRANIORHINY

125647 DESMOPLAKIN; DSP

132860 REMOVED FROM DATABASE

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE

145410 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT

146000 HYPOCHONDROPLASIA; HCH

146110 HYPOGONADOTROPIC HYPOGONADISM

146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM

146600 ICHTHYOSIS HYSTRIX GRAVIOR

147100 IgG HEAVY CHAIN LOCUS; IGHG1

147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1

147430 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT

148067 KERATIN 16; KRT16

148700 KERATOSIS PALMOPLANTARIS STRIATA I; PPKS1

151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1

152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1

154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

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

158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14

158330 MULLERIAN APLASIA AND HYPERANDROGENISM

158373 MUCIN 5, SUBTYPES A AND C, TRACHEOBRONCHIAL; MUC5AC

158374 MUCIN 6, GASTRIC; MUC6

161560 INTERLEUKIN 12A; IL12A

162640 NEUROPEPTIDE Y; NPY

168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1

176920 PROTEUS SYNDROME

179512 RAS-ASSOCIATED PROTEIN RAB5A; RAB5A

179513 RAS-ASSOCIATED PROTEIN RAB6A; RAB6A

180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1

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

190060 V-MOS MOLONEY MURINE SARCOMA VIRAL ONCOGENE HOMOLOG; MOS

190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1

200610 ACHONDROGENESIS, TYPE II; ACG2

201050 ACROCRANIOFACIAL DYSOSTOSIS

201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ

225750 AICARDI-GOUTIERES SYNDROME 1; AGS1

227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1

250600 MOVED TO 156530

258865 OROFACIODIGITAL SYNDROME IX; OFD9

259775 RAINE SYNDROME; RNS

260350 PANCREATIC CARCINOMA

268000 RETINITIS PIGMENTOSA; RP

276905 MOVED TO 605472

300029 RETINITIS PIGMENTOSA 3; RP3

300041 GUANYLATE CYCLASE 2F, RETINAL; GUCY2F

300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A

300187 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED; SRPX

300302 DYNEIN, LIGHT CHAIN, TCTEX TYPE, 3; DYNLT3

300389 MOVED TO 300029

300455 RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH

300484 OROFACIODIGITAL SYNDROME VIII; OFD8

304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1

306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD

308700 KALLMANN SYNDROME 1; KAL1

312080 PELIZAEUS-MERZBACHER DISEASE; PMD

312600 RETINITIS PIGMENTOSA 2; RP2

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

312612 RETINITIS PIGMENTOSA 6; RP6

516006 COMPLEX I, SUBUNIT ND6; MTND6

600185 BRCA2 GENE; BRCA2

600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS

600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25

600675 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; XRCC3

600743 TRANSCRIPTION FACTOR AP4; TFAP4

600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A

600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK

601012 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, N TYPE, ALPHA-1B SUBUNIT; CACNA1B

601021 NUCLEOPORIN, 98-KD; NUP98

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1

601633 N-ETHYLMALEIMIDE-SENSITIVE FACTOR; NSF

601642 INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2

601693 UNCOUPLING PROTEIN 2; UCP2

602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP

602358 HYPOCRETIN; HCRT

602849 MUENKE SYNDROME

602850 RING FINGER PROTEIN 4; RNF4

602917 REGULATOR OF CALCINEURIN 1; RCAN1

602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9

603005 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2

603022 E4F TRANSCRIPTION FACTOR 1; E4F1

603030 TOLL-LIKE RECEPTOR 4; TLR4

603800 MEDIATOR COMPLEX SUBUNIT 21; MED21

604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15

604276 PLAKOPHILIN 4; PKP4

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

605353 GHRELIN; GHRL

605384 INTERLEUKIN 21; IL21

605518 LIPIN 1; LPIN1

605561 PLAKOPHILIN 3; PKP3

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

605812 DEAD/H BOX 19; DDX19

606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1

606934 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 1; NDUFAF1

607344 TUBULIN, DELTA-1; TUBD1

607345 TUBULIN, EPSILON-1; TUBE1

608773 TUBULIN POLYMERIZATION-PROMOTING PROTEIN; TPPP

609416 MICRO RNA 17; MIRN17

609422 MICRO RNA 92-1; MIRN92-1

609653 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 2; NDUFAF2

610905 MOVED TO 225750

611730 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 5; EPB41L5

611776 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 4; NDUFAF4

612090 MICRO RNA 200A; MIRN200A

612091 MICRO RNA 200B; MIRN200B

612092 MICRO RNA 200C; MIRN200C

612093 MICRO RNA 141; MIRN141

612094 MICRO RNA 429; MIRN429

612207 GOLGI PHOSPHOPROTEIN 3; GOLPH3

612349 PHENYLALANINE HYDROXYLASE; PAH

612384 MEDIATOR COMPLEX SUBUNIT 18; MED18

612541 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4; SCN4

612847 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE

612908 KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2

612917 GIACHETI SYNDROME

Clinical Synopsis for 250600 MOVED TO 156530

Clinical Synopsis for 276905 MOVED TO 605472

Clinical Synopsis for 605309 MACROCEPHALY/AUTISM SYNDROME

July 10, 2009

New Entries:

612906 RAS-ASSOCIATED PROTEIN RAB32; RAB32

Changed Entries:

101850 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE III; PPKP3

123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1

125647 DESMOPLAKIN; DSP

139350 KERATIN 1; KRT1

144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK

148067 KERATIN 16; KRT16

148080 KERATIN 10; KRT10

148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC

148600 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; PPKP1

148700 KERATOSIS PALMOPLANTARIS STRIATA I; PPKS1

153700 MACULAR DYSTROPHY, VITELLIFORM; VMD

175860 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II; PPKP2

180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A

190060 V-MOS MOLONEY MURINE SARCOMA VIRAL ONCOGENE HOMOLOG; MOS

244850 KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE

268000 RETINITIS PIGMENTOSA; RP

600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB

600342 G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR

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

600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK

602275 GUANYLATE CYCLASE ACTIVATOR 1B; GUCA1B

605242 USH1C GENE; USH1C

605570 RAS-ASSOCIATED PROTEIN RAB11A; RAB11A

605694 RAS-ASSOCIATED PROTEIN RAB31; RAB31

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

607337 BESTROPHIN 3; BEST3

607606 KERATIN 9; KRT9

607654 KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3

608400 USH2A GENE; USH2A

July 9, 2009

New Entries:

612900 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC

612901 TUBULIN, BETA-1; TUBB1

612902 LIPOCALIN 8; LCN8

612903 LIPOCALIN 9; LCN9

612904 LIPOCALIN 10; LCN10

612905 LIPOCALIN 12; LCN12

Changed Entries:

103880 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B1; AKR1B1

107285 SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI

114830 CARBONYL REDUCTASE 1; CBR1

144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK

155540 MELANOCORTIN 3 RECEPTOR; MC3R

180202 LYSINE-SPECIFIC DEMETHYLASE 5A; KDM5A

314690 LYSINE-SPECIFIC DEMETHYLASE 5C; KDM5C

426000 LYSINE-SPECIFIC DEMETHYLASE 5D; KDM5D

600941 BILIVERDIN REDUCTASE B; BLVRB

600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK

601486 DELETED IN AZOOSPERMIA-LIKE; DAZL

601624 FICOLIN 2; FCN2

602661 TUBULIN, BETA-3; TUBB3

603063 3-@HYDROXYBUTYRATE DEHYDROGENASE 1; BDH1

603169 CATHEPSIN Z; CTSZ

603608 CARBONYL REDUCTASE 3; CBR3

604973 FICOLIN 3; FCN3

605393 LYSINE-SPECIFIC DEMETHYLASE 5B; KDM5B

607606 KERATIN 9; KRT9

607704 KN MOTIF AND ANKYRIN REPEAT DOMAINS 1; KANK1

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

608347 DICARBONYL/L-XYLULOSE REDUCTASE; DCXR

608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8

612902 LIPOCALIN 8; LCN8

July 8, 2009

Changed Entries:

110700 BLOOD GROUP--DUFFY SYSTEM; FY

114850 CARBOXYPEPTIDASE A1; CPA1

120577 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, RECEPTOR 1; C1QR1

146928 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB

147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1

162332 TACHYKININ RECEPTOR 3; TACR3

162700 NEUTROPENIA, CHRONIC FAMILIAL

227650 FANCONI ANEMIA; FA

245000 PAPILLON-LEFEVRE SYNDROME; PALS

276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS

300365 TOLL-LIKE RECEPTOR 7; TLR7

300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB

300515 FANCB GENE; FANCB

314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED

601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1

602544 PARKIN; PARK2

603028 TOLL-LIKE RECEPTOR 2; TLR2

604291 ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO

605545 CD163 ANTIGEN; CD163

605733 PRELI DOMAIN-CONTAINING PROTEIN 1; PRELID1

606829 FRATAXIN; FXN

608830 RETINOL DEHYDROGENASE 12; RDH12

609962 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER E; CLEC4E

611862 WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1

Clinical Synopsis for 308100 ICHTHYOSIS, X-LINKED; XLI

Clinical Synopsis for 611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37

July 7, 2009

New Entries:

612895 NUCLEOREDOXIN; NXN

612896 RAD52 MOTIF-CONTAINING PROTEIN 1; RDM1

612897 SEPTIN 1; SEPT1

612898 COENZYME Q4, S. CEREVISIAE, HOMOLOG OF; COQ4

Changed Entries:

114170 CALPAIN, SMALL SUBUNIT 1; CAPNS1

114220 CALPAIN 1; CAPN1

114230 CALPAIN 2; CAPN2

116952 CELL DIVISION CYCLE 42; CDC42

143100 HUNTINGTON DISEASE; HD

145500 HYPERTENSION, ESSENTIAL

150330 LAMIN A/C; LMNA

192350 VATER ASSOCIATION

214100 ZELLWEGER SYNDROME; ZS

300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2

300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

600488 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5

600841 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-1-LIKE 14; EEF1A1L14

601528 VASCULAR ENDOTHELIAL GROWTH FACTOR C; VEGFC

601978 SIGMA NONOPIOID INTRACELLULAR RECEPTOR 1; SIGMAR1

604708 NUCLEAR FACTOR OF ACTIVATED T CELLS 5; NFAT5

606255 STATURE AS A QUANTITATIVE TRAIT

606746 CHROMOSOME 19 OPEN READING FRAME 10; C19ORF10

609758 Na+/K+ TRANSPORTING ATPase-INTERACTING 2; NKAIN2

610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2

611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9

612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10

612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11

612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13

612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14

612737 STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17

612817 KRR1, YEAST, HOMOLOG OF; KRR1

612892 STATURE QUANTITATIVE TRAIT LOCUS 18; STQTL18

612893 STATURE QUANTITATIVE TRAIT LOCUS 19; STQTL19

612894 STATURE QUANTITATIVE TRAIT LOCUS 20; STQTL20

Clinical Synopsis for 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE

July 6, 2009

New Entries:

612892 STATURE QUANTITATIVE TRAIT LOCUS 18; STQTL18

612893 STATURE QUANTITATIVE TRAIT LOCUS 19; STQTL19

612894 STATURE QUANTITATIVE TRAIT LOCUS 20; STQTL20

Changed Entries:

134370 COMPLEMENT FACTOR H; CFH

139350 KERATIN 1; KRT1

191311 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 2; DDR2

192350 VATER ASSOCIATION

271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE

300757 RP2 GENE; RP2

601663 ESTROGEN RECEPTOR 2; ESR2

604695 ADP-RIBOSYLATION FACTOR-LIKE 3; ARL3

606255 STATURE AS A QUANTITATIVE TRAIT

610566 MICRO RNA 146A; MIRN146A

611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9

612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10

612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11

612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13

612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14

612737 STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17

612890 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8D; LRRC8D

July 2, 2009

Changed Entries:

104300 ALZHEIMER DISEASE; AD

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

137250 GASTRIN; GAS

164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2

173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT

235200 HEMOCHROMATOSIS; HFE

256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

516060 ATP SYNTHASE 6; MTATP6

516070 ATP SYNTHASE 8; MTATP8

600328 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 6; MLLT6

600589 SERUM RESPONSE FACTOR; SRF

605304 NEUROGLOBIN; NGB

606127 MYOCARDIN; MYOCD

606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

606746 CHROMOSOME 19 OPEN READING FRAME 10; C19ORF10

609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2

612776 HYPOGLOSSIA WITH SITUS INVERSUS

612843 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD

612875 GONADOTROPIN-RELEASING HORMONE RECEPTOR 2; GNRHR2

July 1, 2009

New Entries:

612843 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD

Changed Entries:

122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS

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

136351 FMS-RELATED TYROSINE KINASE 3; FLT3

136352 FMS-LIKE TYROSINE KINASE 4; FLT4

153100 LYMPHEDEMA, HEREDITARY, IA

166220 OSTEOGENESIS IMPERFECTA, TYPE IV

308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX

600941 BILIVERDIN REDUCTASE B; BLVRB

602748 DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6

608418 SEPTIN 8; SEPT8

608699 BONE MORPHOGENETIC PROTEIN-BINDING ENDOTHELIAL CELL PRECURSOR-DERIVED

609173 CANCER SUSCEPTIBILITY CANDIDATE 5; CASC5

610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1

612243 G PROTEIN-COUPLED RECEPTOR 126; GPR126