PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for June, 2007

Please send your questions to the NCBI Help Desk.

June 29, 2007

New Entries:

300652 ANGIOMA SERPIGINOSUM, X-LINKED
611109 CINNAMON ODOR, PLEASANTNESS OF
611150 ATAXIN 10; ATXN10
611152 ALZHEIMER DISEASE 13; AD13
611154 ALZHEIMER DISEASE 14; AD14
611155 ALZHEIMER DISEASE 15; AD15

Changed Entries:

104300 ALZHEIMER DISEASE; AD
106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT
127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1
139320 GNAS COMPLEX LOCUS; GNAS
143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A
185300 STURGE-WEBER SYNDROME
217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2
227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
312865 SHORT STATURE HOMEOBOX; SHOX
400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED
415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1
601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9
601365 DISHEVELLED 1; DVL1
601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS
602005 SORTILIN-RELATED RECEPTOR; SORL1
603030 TOLL-LIKE RECEPTOR 4; TLR4
603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB
603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6
603516 SPINOCEREBELLAR ATAXIA 10; SCA10
603666 SYNTAXIN 16; STX16
604824 KLOTHO; KL
605243 LYMPHOCYTE ANTIGEN 96; LY96
605526 ALZHEIMER DISEASE 6
605725 PERIAXIN; PRX
606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1
607123 PROKINETICIN RECEPTOR 2; PROKR2
607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11;
610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10
610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11
611150 ATAXIN 10; ATXN10
611154 ALZHEIMER DISEASE 14; AD14
Clinical Synopsis for 603516 SPINOCEREBELLAR ATAXIA 10; SCA10

June 28, 2007

New Entries:

611136 EPILEPSY, CHILDHOOD ABSENCE, 4; ECA4
611148 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 6; SLC30A6
611149 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 7; SLC30A7
611151 HPAII TINY FRAGMENTS LOCUS 9C
Clinical Synopsis for 603116 CDAGS SYNDROME

Changed Entries:

100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1
131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR
137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1
137440 GERSTMANN-STRAUSSLER DISEASE; GSD
143100 HUNTINGTON DISEASE; HD
159900 MYOCLONIC DYSTONIA
164860 MET PROTOONCOGENE; MET
165720 OSTEOARTHRITIS
176640 PRION PROTEIN; PRNP
190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3
201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2
211980 LUNG CANCER
248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB
300647 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B
314690 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C
400003 DELETED IN AZOOSPERMIA; DAZ
400006 RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1, MEMBER A1; RBMY1A1
415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
426000 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D
600169 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE A; MICA
600287 GLYCYL-tRNA SYNTHETASE; GARS
600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5
601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5
601180 RAN-BINDING PROTEIN 1; RANBP1
601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1
602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4
602408 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1
602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL
602668 DYSTROPHIA MYOTONICA 2; DM2
602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3
602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4
604277 SPG4 GENE; SPG4
604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;
605031 POLO-LIKE KINASE 4; PLK4
606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP
606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5
607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
608620 HSN2 GENE; HSN2
608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
609321 SAS6, C. ELEGANS, HOMOLOG OF
609521 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 1; SLC30A1
609617 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 2; SLC30A2
610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1
610839 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1
611099 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6
Clinical Synopsis for 125420 DENTIN DYSPLASIA, TYPE II
Clinical Synopsis for 252600 MUCOLIPIDOSIS IIIA

June 27, 2007

New Entries:

611142 CYTOSKELETON-ASSOCIATED PROTEIN 5; CKAP5
611143 COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98
611144 ABRAXAS BROTHER 1
611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8
611146 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 10; SLC30A10
Clinical Synopsis for 606407 HYPOTONIA-CYSTINURIA SYNDROME
Clinical Synopsis for 609425 3q29 MICRODELETION SYNDROME
Clinical Synopsis for 609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Clinical Synopsis for 610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY

Changed Entries:

104300 ALZHEIMER DISEASE; AD
107270 CD38 ANTIGEN; CD38
107741 APOLIPOPROTEIN E; APOE
113705 BREAST CANCER 1 GENE; BRCA1
120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FCAS
126350 DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2
160777 MYOSIN VA; MYO5A
167050 OXYTOCIN; OXT
170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP
180300 RHEUMATOID ARTHRITIS; RA
185605 SYNAPTOTAGMIN 1; SYT1
190010 TRANSFERRIN RECEPTOR; TFRC
191160 TUMOR NECROSIS FACTOR; TNF
191900 MUCKLE-WELLS SYNDROME
212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
231090 HYDATIDIFORM MOLE
248600 MAPLE SYRUP URINE DISEASE
248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT
266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE
600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D
601336 GLUCOSIDASE I; GCS1
601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,
602116 YEATS DOMAIN-CONTAINING PROTEIN 4; YEATS4
602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
602616 ALPHA-1,6-@MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE;
603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C
603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F
603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A
605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B
605007 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
605301 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 1; TACC1
605303 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 3; TACC3
605881 SOLUTE CARRIER FAMILY 35, MEMBER C1; SLC35C1
606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B
606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2
606407 HYPOTONIA-CYSTINURIA SYNDROME
606416 NLR FAMILY, PYRIN-DOMAIN CONTAINING 3; NLRP3
606438 HUNTINGTON DISEASE-LIKE 2; HDL2
606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1;
606636 NLR FAMILY, PYRIN-DOMAIN CONTAINING 1; NLRP1
607115 CINCA SYNDROME; CINCA
607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J
608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H
608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L
608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E
609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F
609364 NLR FAMILY, PYRIN-DOMAIN CONTAINING 2; NLRP2
609425 3q29 MICRODELETION SYNDROME
609433 UBIQUITIN INTERACTION MOTIF-CONTAINING PROTEIN 1; UIMC1
609645 NLR FAMILY, PYRIN-DOMAIN CONTAINING 4; NLRP4
609648 NLR FAMILY, PYRIN-DOMAIN CONTAINING 12; NLRP12
609650 NLR FAMILY, PYRIN-DOMAIN CONTAINING 6; NLRP6
609658 NLR FAMILY, PYRIN-DOMAIN CONTAINING 5; NLRP5
609659 NLR FAMILY, PYRIN-DOMAIN CONTAINING 8; NLRP8
609660 NLR FAMILY, PYRIN-DOMAIN CONTAINING 13; NLRP13
609661 NLR FAMILY, PYRIN-DOMAIN CONTAINING 7; NLRP7
609662 NLR FAMILY, PYRIN-DOMAIN CONTAINING 10; NLRP10
609663 NLR FAMILY, PYRIN-DOMAIN CONTAINING 9; NLRP9
609664 NLR FAMILY, PYRIN-DOMAIN CONTAINING 11; NLRP11
609665 NLR FAMILY, PYRIN-DOMAIN CONTAINING 14; NLRP14
610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
610589 RHO GTPase-ACTIVATING PROTEIN 11A; ARHGAP11A
610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M
611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8
611143 COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98
Clinical Synopsis for 133200 ERYTHROKERATODERMIA VARIABILIS; EKV
Clinical Synopsis for 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY

June 26, 2007

New Entries:

611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8
611140 TELOMERE MAINTENANCE 2, S. CEREVISIAE, HOMOLOG OF; TELO2
611141 MINDBOMB, DROSOPHILA, HOMOLOG OF, 2; MIB2
Clinical Synopsis for 610448 CHILBLAIN LUPUS

Changed Entries:

105830 ANGELMAN SYNDROME; AS
114610 CANNABINOID RECEPTOR 1; CNR1
139396 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-3; GUCY1A3
139397 GUANYLATE CYCLASE 1, SOLUBLE, BETA-3; GUCY1B3
154550 MANNOSEPHOSPHATE ISOMERASE; MPI
159300 MUSICAL PERFECT PITCH
174500 POLYDACTYLY, PREAXIAL II; PPD2
176270 PRADER-WILLI SYNDROME; PWS
176981 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2-LIKE 1; GNB2L1
181500 SCHIZOPHRENIA; SCZD
185250 MATRIX METALLOPROTEINASE 3; MMP3
190685 DOWN SYNDROME
212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx
252010 MITOCHONDRIAL COMPLEX I DEFICIENCY
300244 TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
300464 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3
300546 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1; FGD1
516002 COMPLEX I, SUBUNIT ND3; MTND3
600776 FRYNS MICROPHTHALMIA SYNDROME
601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D
601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR
601244 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-2; GUCY1A2
601683 COQ7, S. CEREVISIAE, HOMOLOG OF; COQ7
601785 PHOSPHOMANNOMUTASE 2; PMM2
602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
602667 NBS1 GENE; NBS1
602912 INTEGRIN, BETA-4, BINDING PROTEIN OF; ITGB4BP
603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C
603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F
604565 ALG5, S. CEREVISIAE, HOMOLOG OF; ALG5
604566 ALG6, S. CEREVISIAE, HOMOLOG OF; ALG6
604605 KALIRIN; KALRN
604824 KLOTHO; KL
605051 CANNABINOID RECEPTOR 2; CNR2
605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1
605634 SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1;
606941 ALG9, S. CEREVISIAE, HOMOLOG OF; ALG9
607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL
608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J
608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H
608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2
608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4
608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
608750 ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3
608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L
608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E
608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5
609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F
609436 FIBROBLAST GROWTH FACTOR 21; FGF21
609837 RNA, HBII-52 SMALL NUCLEOLAR
610448 CHILBLAIN LUPUS
610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M
610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7
611135 KLOTHO, BETA; KLB
Clinical Synopsis for 121300 COPROPORPHYRIA
Clinical Synopsis for 133200 ERYTHROKERATODERMIA VARIABILIS; EKV
Clinical Synopsis for 191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO
Clinical Synopsis for 206800 ANONYCHIA CONGENITA
Clinical Synopsis for 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC
Clinical Synopsis for 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY
Clinical Synopsis for 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1
Clinical Synopsis for 610188 JOUBERT SYNDROME 5; JBTS5
Clinical Synopsis for 610448 CHILBLAIN LUPUS
Clinical Synopsis for 610688 JOUBERT SYNDROME 6; JBTS6
Clinical Synopsis for 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII

June 25, 2007

New Entries:

611135 KLOTHO, BETA; KLB
611137 PROTEASOME SUBUNIT, BETA-TYPE, 11
611138 SPERMATID PERINUCLEAR RNA-BINDING PROTEIN; STRBP
Clinical Synopsis for 610188 JOUBERT SYNDROME 5; JBTS5
Clinical Synopsis for 610189 SENIOR-LOKEN SYNDROME 6; SLSN6
Clinical Synopsis for 610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC
Clinical Synopsis for 610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11

Changed Entries:

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A
164874 FORKHEAD BOX G1; FOXG1
176847 PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10
177045 PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9
177046 PROTEASOME SUBUNIT, BETA-TYPE, 8; PSMB8
270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
600306 PROTEASOME SUBUNIT, BETA-TYPE, 5; PSMB5
600307 PROTEASOME SUBUNIT, BETA-TYPE, 6; PSMB6
600507 MOVED TO 601177
600508 NCK ADAPTOR PROTEIN 1; NCK1
600732 ADP-RIBOSYLATION FACTOR 4-LIKE; ARF4L
600779 MOVED TO 164874
601177 ADP-RIBOSYLATION FACTOR 4; ARF4
601556 ATAXIN 1; ATXN1
602017 PROTEASOME SUBUNIT, BETA-TYPE, 1; PSMB1
602175 PROTEASOME SUBUNIT, BETA-TYPE, 2; PSMB2
602176 PROTEASOME SUBUNIT, BETA-TYPE, 3; PSMB3
602177 PROTEASOME SUBUNIT, BETA-TYPE, 4; PSMB4
602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1
603780 RECQ PROTEIN-LIKE 4; RECQL4
603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4
604030 PROTEASOME SUBUNIT, BETA-TYPE, 7; PSMB7
605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
605524 MOVED TO 164874
605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1
609134 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 2; UBR2
610188 JOUBERT SYNDROME 5; JBTS5
610189 SENIOR-LOKEN SYNDROME 6; SLSN6
610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC
610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
611137 PROTEASOME SUBUNIT, BETA-TYPE, 11
Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2
Clinical Synopsis for 602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
Clinical Synopsis for 610189 SENIOR-LOKEN SYNDROME 6; SLSN6

June 22, 2007

New Entries:

611134 MECKEL SYNDROME, TYPE 4; MKS4

Changed Entries:

114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A
121010 PRO-PLATELET BASIC PROTEIN; PPBP
125505 DEOXYRIBONUCLEASE I; DNASE1
131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
142989 HOMEOBOX D13; HOXD13
151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC
152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE
157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD; MTP
173460 PLATELET FACTOR 4; PF4
177000 PROTOPORPHYRIA, ERYTHROPOIETIC
177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
200100 ABETALIPOPROTEINEMIA; ABL
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
203750 ALPHA-METHYLACETOACETIC ACIDURIA
212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
232300 GLYCOGEN STORAGE DISEASE II
249000 MECKEL SYNDROME, TYPE 1; MKS1
251260 NIJMEGEN BREAKAGE SYNDROME
261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2
261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1
300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK
300331 THROMBOCYTOSIS, FAMILIAL X-LINKED
601612 LUNG AGENESIS
601785 PHOSPHOMANNOMUTASE 2; PMM2
601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7
601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4
602593 CORNEODESMOSIN; CDSN
602667 NBS1 GENE; NBS1
605899 GLYCINE ENCEPHALOPATHY; GCE
606522 GROWTH/DIFFERENTIATION FACTOR 3; GDF3
606593 LIG4 SYNDROME
607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1
607839 GLYCOGEN BRANCHING ENZYME; GBE1
607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG
608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
610049 CYTOKINE-INDUCED PROTEIN, 29-KD
610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
610142 CENTROSOMAL PROTEIN, 290-KD; CEP290
610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1

June 21, 2007

New Entries:

611129 CHROMOSOME 10 OPEN READING FRAME 26; C10ORF26
611130 CHMP FAMILY, MEMBER 7; CHMP7
611131 RETINITIS PIGMENTOSA 38
611132 RIBOKINASE; RBKS
611133 SMALL NUCLEOLAR RNA, C/D BOX, 82; SNORD82

Changed Entries:

118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1
119530 OROFACIAL CLEFT 1; OFC1
136850 FUMARATE HYDRATASE; FH
164035 NUCLEOLIN; NCL
176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA
179835 REPLICATION PROTEIN A1, 70-KD; RPA1
180466 RIBOSOMAL PROTEIN L19; RPL19
188450 THYROGLOBULIN; TG
268000 RETINITIS PIGMENTOSA; RP
268100 ENHANCED S-CONE SYNDROME; ESCS
300068 ANDROGEN INSENSITIVITY SYNDROME; AIS
400022 PROTOCADHERIN 11, Y-LINKED; PCDH11Y
602667 NBS1 GENE; NBS1
602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4
603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2
604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3
605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY
607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D
607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J
608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H
608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
608757 CLP1, YEAST, HOMOLOG OF; CLP1
608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E
608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E
609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F
610361 OROFACIAL CLEFT 9
610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M
611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4
611069 RNA, U86 SMALL NUCLEOLAR
611101 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 5;
611125 DERMATAN SULFATE EPIMERASE-LIKE; DSEL
611129 CHROMOSOME 10 OPEN READING FRAME 26; C10ORF26
611131 RETINITIS PIGMENTOSA 38

June 20, 2007

New Entries:

611122 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 28; ANKRD28
611123 EPHRIN RECEPTOR EphA10; EPHA10
611124 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8; MFSD8
611125 DERMATAN SULFATE EPIMERASE-LIKE; DSEL
611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF
611127 UBIQUITIN-LIKE 4B; UBL4B
611128 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2; MDGA2

Changed Entries:

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1
127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1
153432 LYMPHOCYTE-SPECIFIC PROTEIN; LSP1
191160 TUMOR NECROSIS FACTOR; TNF
256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
310600 NORRIE DISEASE; ND
312070 UBIQUITIN-LIKE 4A; UBL4A
314690 SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX
600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST
600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11
601059 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR
602188 EPHRIN RECEPTOR EphA4; EPHA4
602190 EPHRIN RECEPTOR EphA7; EPHA7
602294 FORKHEAD BOX A1; FOXA1
603030 TOLL-LIKE RECEPTOR 4; TLR4
603725 FIBROBLAST GROWTH FACTOR 17; FGF17
604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1
604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3
605343 FOLLISTATIN-LIKE 3; FSTL3
605461 INTERLEUKIN 17 RECEPTOR A; IL17RA
605942 DERMATAN SULFATE EPIMERASE; DSE
606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP
607138 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 4; CREB3L4
607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3
607421 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 3; TXNDC3
607495 MOVED TO 607138
609110 F-BOX ONLY PROTEIN 43; FBXO43
609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H
609631 DEAD/H BOX 58; DDX58
610388 RAS (RAD AND GEM)-LIKE GTP-BINDING 1; REM1
610432 RING FINGER PROTEIN 125; RNF125
610527 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 1; TXNDC1
610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
610987 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2C; ASAH2C
611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9
611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4
Clinical Synopsis for 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE
Clinical Synopsis for 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC
Clinical Synopsis for 609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

June 19, 2007

New Entries:

611119 KELCH-LIKE 7; KLHL7
611120 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3
611121 CALMIN; CLMN

Changed Entries:

113503 BRADYKININ RECEPTOR B2; BDKRB2
120353 MATRIX METALLOPROTEINASE 1; MMP1
120360 MATRIX METALLOPROTEINASE 2; MMP2
123690 CRYSTALLIN, GAMMA-D; CRYGD
157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
180380 RHODOPSIN; RHO
184450 STUTTERING, FAMILIAL PERSISTENT 1; STUT1
305450 OPITZ-KAVEGGIA SYNDROME; OKS
600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2
600337 BRADYKININ RECEPTOR B1; BDKRB1
601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR
601286 CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT
602061 EPIREGULIN; EREG
602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
603725 FIBROBLAST GROWTH FACTOR 17; FGF17
604670 POLYCYSTIN AND SEA URCHIN REJ HOMOLOG-LIKE; PKDREJ
605248 MUCOLIPIN 1; MCOLN1
605712 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1
605713 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 2; SPTLC2
606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3
608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7
609631 DEAD/H BOX 58; DDX58
610432 RING FINGER PROTEIN 125; RNF125
611119 KELCH-LIKE 7; KLHL7
611120 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3
611121 CALMIN; CLMN
Clinical Synopsis for 115900 CATARACT, FLORIFORM
Clinical Synopsis for 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib

June 18, 2007

New Entries:

611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1
611118 NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL

Changed Entries:

115800 CATARACT, CRYSTALLINE CORALLIFORM
147141 TRANSCRIPTION FACTOR 3; TCF3
153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1
153440 LYMPHOTOXIN-ALPHA; LTA
162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4
164343 EARLY B-CELL FACTOR; EBF
167414 PAIRED BOX GENE 5; PAX5
173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1
176801 PROSAPOSIN; PSAP
193670 WHIM SYNDROME
212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
229300 FRIEDREICH ATAXIA 1; FRDA
300167 HEPHAESTIN; HEPH
300377 DYSTROPHIN; DMD
300451 ECTODYSPLASIN A; EDA
302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B
600185 BREAST CANCER 2 GENE; BRCA2
600526 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 2; MARK2
600807 ASTHMA, SUSCEPTIBILITY TO
600978 LYMPHOTOXIN-BETA; LTB
600979 LYMPHOTOXIN B RECEPTOR; LTBR
601274 LEUKOTRIENE B4 12-HYDROXYDEHYDROGENASE; LTB4DH
601974 ENDOTHELIAL DIFFERENTIATION GENE 1; EDG1
602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT
603023 IKAROS FAMILY ZINC FINGER 1; IKZF1
603030 TOLL-LIKE RECEPTOR 4; TLR4
603209 CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE; CMAH
603730 SPHINGOSINE KINASE 1; SPHK1
604095 ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR; EDAR
604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3
604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14
604837 G PROTEIN-COUPLED RECEPTOR 44; GPR44
605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA
605349 NUCLEAR PRELAMIN A RECOGNITION FACTOR; NARF
606080 CHITINASE, ACIDIC; CHIA
606221 IKAROS FAMILY ZINC FINGER 3; IKZF3
606234 IKAROS FAMILY ZINC FINGER 2; IKZF2
606238 IKAROS FAMILY ZINC FINGER 5; IKZF5
606239 IKAROS FAMILY ZINC FINGER 4; IKZF4
606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD
606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
607092 SPHINGOSINE KINASE 2; SPHK2
607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1
607583 PEROXISOME BIOGENESIS FACTOR 11G; PEX11G
607882 G PROTEIN-COUPLED RECEPTOR 172A; GPR172A
607883 G PROTEIN-COUPLED RECEPTOR 172B; GPR172B
608499 ZONA PELLUCIDA-BINDING PROTEIN 2; ZPBP2
610458 LEUCINE ZIPPER AND CTNNBIP1 DOMAINS-CONTAINING PROTEIN; LZIC
611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1
611118 NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL

June 15, 2007

New Entries:

611112 DAPPER, ANTAGONIST OF BETA-CATENIN, 3; DACT3
611113 CEMENTUM PROTEIN 1; CEMP1
611115 VON WILLEBRAND FACTOR C AND EGF DOMAIN-CONTAINING PROTEIN; VWCE
611116 MICRO RNA 208; MIRN208

Changed Entries:

102565 FILAMIN C; FLNC
104300 ALZHEIMER DISEASE; AD
106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1
126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),
138244 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 2; GRIK2
138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB
147570 INTERFERON, GAMMA; IFNG
148069 KERATIN 17; KRT17
150600 LEGG-CALVE-PERTHES DISEASE
151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1
157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD; MTP
160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6
160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1
174500 POLYDACTYLY, PREAXIAL II; PPD2
182290 SMITH-MAGENIS SYNDROME; SMS
236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE
300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
300618 PHD FINGER PROTEIN 16; PHF16
600913 MOVED TO 602055
600914 SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5
601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A
601622 TWIST, DROSOPHILA, HOMOLOG OF, 1; TWIST1
601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1
601943 SPLICING FACTOR, ARGININE/SERINE-RICH, 9; SFRS9
602055 INSULIN-INDUCED GENE 1; INSIG1
602617 FORKHEAD BOX E1; FOXE1
603364 SPLICING FACTOR, ARGININE/SERINE-RICH, 3; SFRS3
604453 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2; NR5A2
604791 TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10
605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1
605739 KYPHOSCOLIOSIS PEPTIDASE; KY
605812 DEAD/H BOX 19; DDX19
605967 ACROPECTORAL SYNDROME
607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
607642 RETINOIC ACID-INDUCED GENE 1; RAI1
608626 STE20-RELATED ADAPTOR PROTEIN
608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY
609238 RAB GTPase-ACTIVATING PROTEIN 1-LIKE; RABGAP1L
609615 QUEUINE tRNA-RIBOSYLTRANSFERASE 1; QTRT1
610337 HEPATITIS B VIRUS-ENCODED X ANTIGEN-UPREGULATED GENE 4
610515 PHD FINGER PROTEIN 15; PHF15
610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2
611116 MICRO RNA 208; MIRN208
Clinical Synopsis for 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1
Clinical Synopsis for 145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
Clinical Synopsis for 179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1
Clinical Synopsis for 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD

June 14, 2007

New Entries:

Clinical Synopsis for 602849 MUENKE SYNDROME
Clinical Synopsis for 606966 NEPHRONOPHTHISIS 4; NPHP4
Clinical Synopsis for 606995 SENIOR-LOKEN SYNDROME 3; SLSN3
Clinical Synopsis for 606996 SENIOR-LOKEN SYNDROME 4; SLSN4
Clinical Synopsis for 609254 SENIOR-LOKEN SYNDROME 5; SLSN5
Clinical Synopsis for 610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
Clinical Synopsis for 610768 DOLICHOL KINASE DEFICIENCY

Changed Entries:

105830 ANGELMAN SYNDROME; AS
108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5
109565 B-CELL LYMPHOMA 6; BCL6
121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1
128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
131320 GATA-BINDING PROTEIN 3; GATA3
146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1
148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
150330 LAMIN A/C; LMNA
182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1
209850 AUTISM
249000 MECKEL SYNDROME, TYPE 1; MKS1
309549 MENTAL RETARDATION, X-LINKED 9; MRX9
600366 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL1
600687 T-CELL LYMPHOMA INVASION AND METASTASIS 1; TIAM1
600866 PROGRAMMED CELL DEATH 2; PDCD2
600997 EPHRIN RECEPTOR EphB2; EPHB2
601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A
602849 MUENKE SYNDROME
603382 MutS, E. COLI, HOMOLOG OF, 5; MSH5
604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B
604824 KLOTHO; KL
605204 TORSIN-A; DYT1
605268 JUNCTOPHILIN 3; JPH3
605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM
605908 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1;
606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1
606966 NEPHRONOPHTHISIS 4; NPHP4
606995 SENIOR-LOKEN SYNDROME 3; SLSN3
606996 SENIOR-LOKEN SYNDROME 4; SLSN4
607040 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11
607361 MECKEL SYNDROME, TYPE 3; MKS3
608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD
609254 SENIOR-LOKEN SYNDROME 5; SLSN5
609883 MKS1 GENE; MKS1
609884 TRANSMEMBRANE PROTEIN 67; TMEM67
609949 G PROTEIN-COUPLED RECEPTOR 77; GPR77
610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
610768 DOLICHOL KINASE DEFICIENCY
Clinical Synopsis for 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Clinical Synopsis for 248600 MAPLE SYRUP URINE DISEASE
Clinical Synopsis for 256100 NEPHRONOPHTHISIS 1; NPHP1
Clinical Synopsis for 604387 NEPHRONOPHTHISIS 3; NPHP3

June 13, 2007

New Entries:

611108 VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2; VWC2
611110 CHROMOSOME 21 OPEN READING FRAME 7; C21ORF7
611111 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 5; DPPA5
611114 MICRO RNA 150; MIRN150
Clinical Synopsis for 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Changed Entries:

101400 SAETHRE-CHOTZEN SYNDROME; SCS
107730 APOLIPOPROTEIN B; APOB
110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1
123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1
131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
146929 INTERLEUKIN 8 RECEPTOR, ALPHA; IL8RA
154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2
157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
162200 NEUROFIBROMATOSIS, TYPE I; NF1
173350 PLASMINOGEN; PLG
176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
190440 TRIGONOCEPHALY, NONSYNDROMIC
191160 TUMOR NECROSIS FACTOR; TNF
211350 KYPHOMELIC DYSPLASIA
214800 CHARGE SYNDROME
217090 PLASMINOGEN DEFICIENCY, TYPE I
219700 CYSTIC FIBROSIS; CF
222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1
230750 GASTROSCHISIS
235200 HEMOCHROMATOSIS; HFE
248250 HYPOMAGNESEMIA 3, PRIMARY; HOMG3
415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
600176 PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES
600812 SPLICING FACTOR, ARGININE/SERINE-RICH, 1; SFRS1
600914 SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5
600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4
601622 TWIST, DROSOPHILA, HOMOLOG OF, 1; TWIST1
601930 BASONUCLIN 1; BNC1
601944 SPLICING FACTOR, ARGININE/SERINE-RICH, 6; SFRS6
603116 CDAGS SYNDROME
603269 SPLICING FACTOR, ARGININE/SERINE-RICH, 2B; SFRS2B
605402 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1
606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP
606465 KRUPPEL-LIKE FACTOR 15; KLF15
606529 CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE
607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
607218 INTERFERON REGULATORY FACTOR 5; IRF5
607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS
608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7
609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
610254 MICRO RNA 133A1; MIRN133A1
610255 MICRO RNA 133A2; MIRN133A2
610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1
611108 VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2; VWC2

June 12, 2007

New Entries:

611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 12; MRT12
611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 5; MRT5
611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6; MRT6
611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 7; MRT7
611094 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 8; MRT8
611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 9; MRT9
611096 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 10; MRT10
611097 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 11; MRT11
611106 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12D; ZC3H12D
611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 4; MRT4
Clinical Synopsis for 300279 MENTAL RETARDATION, X-LINKED, WITH PROGRESSIVE SPASTICITY
Clinical Synopsis for 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2

Changed Entries:

102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1
125660 DESMIN; DES
135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO
153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF
159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL
160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6
160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
164950 FIBROBLAST GROWTH FACTOR 3; FGF3
164958 NEPHROBLASTOMA OVEREXPRESSED GENE; NOV
165720 OSTEOARTHRITIS
166200 OSTEOGENESIS IMPERFECTA, TYPE I
176980 PROTEIN KINASE C, GAMMA; PRKCG
182125 SEPIAPTERIN REDUCTASE; SPR
187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5
248250 HYPOMAGNESEMIA, PRIMARY
249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1
300279 MENTAL RETARDATION, X-LINKED, WITH PROGRESSIVE SPASTICITY
300451 ECTODYSPLASIN A; EDA
305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1
305200 EHLERS-DANLOS SYNDROME, TYPE V
600453 TRIPARTITE MOTIF-CONTAINING PROTEIN 25; TRIM25
600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA
600572 SPLICING FACTOR, ARGININE/SERINE-RICH, 7; SFRS7
600813 SPLICING FACTOR, ARGININE/SERINE-RICH, 2; SFRS2
600914 SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5
601021 NUCLEOPORIN, 98-KD; NUP98
601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1
601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
601686 TELOMERASE-ASSOCIATED PROTEIN 1; TEP1
601940 SPLICING FACTOR, ARGININE/SERINE-RICH, 4; SFRS4
601944 SPLICING FACTOR, ARGININE/SERINE-RICH, 6; SFRS6
602010 SPLICING FACTOR, ARGININE/SERINE-RICH, 11; SFRS11
602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG
602322 TELOMERASE RNA COMPONENT; TERC
602377 DYNAMIN 1; DNM1
603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
603364 SPLICING FACTOR, ARGININE/SERINE-RICH, 3; SFRS3
603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20
603898 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 18; TNFSF18
603905 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 18; TNFRSF18
603961 SEMAPHORIN 3A; SEMA3A
604767 DELETED IN ESOPHAGEAL CANCER 1; DEC1
604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B
605361 SPINOCEREBELLAR ATAXIA 14; SCA14
605705 SNF1-LIKE KINASE; SNF1LK
608109 PSEUDOURIDINE SYNTHASE 1; PUS1
608135 ASPORIN; ASPN
609132 AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2
609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
609631 DEAD/H BOX 58; DDX58
610993 UBIQUITIN-SPECIFIC PROTEASE 44; USP44
611060 SET-BINDING PROTEIN 1; SETBP1
Clinical Synopsis for 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
Clinical Synopsis for 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED
Clinical Synopsis for 610688 JOUBERT SYNDROME 6; JBTS6

June 11, 2007

New Entries:

300649 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 5; SLC38A5
300651 PORCUPINE, DROSOPHILA, HOMOLOG OF; PORCN
611105 LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND
Clinical Synopsis for 610688 JOUBERT SYNDROME 6; JBTS6
Clinical Synopsis for 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB
Clinical Synopsis for 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII

Changed Entries:

130160 ELASTIN; ELN
134797 FIBRILLIN 1; FBN1
153400 LYMPHEDEMA-DISTICHIASIS SYNDROME
154700 MARFAN SYNDROME; MFS
158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A
163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
165630 MOVED TO 163200
176450 CURRARINO SYNDROME
235730 MOWAT-WILSON SYNDROME
248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA
255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS
271100 MOVED TO 153400
312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR
602858 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
604437 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 3; SLC38A3
605726 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2
605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2
606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE
607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3
608065 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 4; SLC38A4
608548 HEMICENTIN; HMCN1
610688 JOUBERT SYNDROME 6; JBTS6
610854 OSTEOGENESIS IMPERFECTA, TYPE IIB
610915 OSTEOGENESIS IMPERFECTA, TYPE VIII
610956 ASPARTYL-tRNA SYNTHETASE 2; DARS2
611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4
611100 PROSTATE CANCER, HEREDITARY, 10; HPC10

June 10, 2007

New Entries:

611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9
611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4

Changed Entries:


June 8, 2007

New Entries:

611067 DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 4; DSMA4
611100 PROSTATE CANCER, HEREDITARY, 10; HPC10
611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY
Clinical Synopsis for 182125 SEPIAPTERIN REDUCTASE; SPR

Changed Entries:

114290 CAMPOMELIC DYSPLASIA
123290 CREATINE KINASE, MITOCHONDRIAL 1B; CKMT1B
124015 CYTOCHROME P450 OXIDOREDUCTASE; POR
150330 LAMIN A/C; LMNA
152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2
159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
176807 PROSTATE CANCER
182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
256000 LEIGH SYNDROME; LS
272120 SUDDEN INFANT DEATH SYNDROME
300546 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1; FGD1
516060 ATP SYNTHASE 6; MTATP6
600502 IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2
600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5
600963 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5
603489 CARTILAGE INTERMEDIATE LAYER PROTEIN; CILP
603932 INTERVERTEBRAL DISC DISEASE; IDD
604277 SPG4 GENE; SPG4
604320 DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1; DSMA1
605091 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 2; FGD2
605726 DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 2; DSMA2
606440 STEREOCILIN; STRC
606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5
607088 DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 3; DSMA3
607249 CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2
Clinical Synopsis for 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
Clinical Synopsis for 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS

June 7, 2007

New Entries:

611022 DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24
611098 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 4; STEAP4
611099 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6
611101 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 5;

Changed Entries:

155555 MELANOCORTIN 1 RECEPTOR; MC1R
167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1
167800 PANCREATITIS, HEREDITARY; PCTT
176790 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB
179410 RADIXIN; RDX
186973 T-CELL TYROSINE KINASE EMT; EMT
190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1
235200 HEMOCHROMATOSIS; HFE
300147 PROSTATE CANCER, HEREDITARY, X-LINKED; HPCX
300579 SHROOM FAMILY MEMBER 4; SHROOM4
312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),
604272 SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2
605094 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 2; STEAP2
605264 SORBIN AND SH3-DOMAINS CONTAINING 1; SORBS1
605653 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3; FBXL3
605878 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7; ZBTB7
607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
607417 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2
608012 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 2; PDIA2
608656 PROSTATE CANCER, HEREDITARY, 3
609319 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6
609320 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 9
609326 MICRO RNA 1-1; MIRN1-1

June 6, 2007

New Entries:

611083 ALCOHOL DEHYDROGENASE, IRON-CONTAINING, 1; ADHFE1
611084 FORKHEAD BOX D4-LIKE 1; FOXD4L1
611085 FORKHEAD BOX D4-LIKE 2; FOXD4L2
611086 FORKHEAD BOX D4-LIKE 3; FOXD4L3
611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE
611088 COILED-COIL DOMAIN-CONTAINING PROTEIN 65; CCDC65
611089 MYOTUBULARIN-RELATED PROTEIN 14; MTMR14

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP
116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A
133430 ESTROGEN RECEPTOR 1; ESR1
135940 FILAGGRIN; FLG
147880 INTERLEUKIN 6 RECEPTOR; IL6R
150600 LEGG-CALVE-PERTHES DISEASE
152430 LONGEVITY
178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC
180386 LIM DOMAIN ONLY 3; LMO3
185620 SURFEIT 1; SURF1
189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG; MYB
190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1
211980 LUNG CANCER
214900 CHOLESTASIS-LYMPHEDEMA SYNDROME
220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY
243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA
257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1
264090 PROGEROID SYNDROME, NEONATAL
271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
309550 FMR1 GENE; FMR1
516005 COMPLEX I, SUBUNIT ND5; MTND5
590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1
600568 NEUROLIGIN 1; NLGN1
600981 PHOSPHOGLUCOMUTASE 5; PGM5
601092 FORKHEAD BOX D4; FOXD4
601150 DEAD/H BOX 11; DDX11
601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2
601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8
602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3
602544 PARKIN; PARK2
602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE; ARNTL
602727 CHLORIDE CHANNEL 7; CLCN7
603495 AURORA KINASE C; AURKC
603521 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A-PRIME; SNRPA1
605815 NUCLEOPORIN, 62-KD; NUP62
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
607623 NPC1 GENE; NPC1
607849 RETINOL DEHYDROGENASE 11; RDH11
608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1
608626 STE20-RELATED ADAPTOR PROTEIN
609471 GLUCOSIDASE, BETA, ACID 2; GBA2
610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2
611079 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 2; CBWD2
611084 FORKHEAD BOX D4-LIKE 1; FOXD4L1
611089 MYOTUBULARIN-RELATED PROTEIN 14; MTMR14

June 5, 2007

New Entries:

611074 BRAIN-SPECIFIC HOMEOBOX, MOUSE, HOMOLOG OF
611075 DPH5, S. CEREVISIAE, HOMOLOG OF; DPH5
611076 5-PRIME NUCLEOTIDASE DOMAIN-CONTAINING PROTEIN 3; NT5DC3
611077 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 4; CHCHD4
611078 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 1; CBWD1
611079 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 2; CBWD2
611080 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 3; CBWD3
611081 INFLAMMATORY BOWEL DISEASE 10; IBD10
611082 MIAT GENE; MIAT

Changed Entries:

118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD
133239 ESOPHAGEAL CANCER
150571 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2; LGALS2
176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2
208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE
266600 INFLAMMATORY BOWEL DISEASE 1; IBD1
600435 CARDIOTROPHIN 1; CTF1
600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2
600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A
602855 PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6
603456 DPH2, S. CEREVISIAE, HOMOLOG OF; DPH2
603527 DPH1, S. CEREVISIAE, HOMOLOG OF; DPH1
605421 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2
606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2
606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6
606668 INFLAMMATORY BOWEL DISEASE 8; IBD8
607672 CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1
608016 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 8; CHCHD8
608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1
608897 UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D
608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
608959 DPH3, S. CEREVISIAE, HOMOLOG OF; DPH3
609023 MYOFIBRILLOGENESIS REGULATOR 1
609435 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 13; NDUFA13
610767 AUTOPHAGY 16-LIKE 1; ATG16L1
610814 MOVED TO 601186
611078 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 1; CBWD1
611082 MIAT GENE; MIAT
Clinical Synopsis for 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9
Clinical Synopsis for 610814 MOVED TO 601186

June 4, 2007

New Entries:

611072 DPH4, S. CEREVISIAE, HOMOLOG OF; DPH4
611073 ALZHEIMER DISEASE 12

Changed Entries:

104300 ALZHEIMER DISEASE; AD
130650 BECKWITH-WIEDEMANN SYNDROME; BWS
135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
152200 APOLIPOPROTEIN(a); LPA
160900 DYSTROPHIA MYOTONICA 1
171900 PHOSPHOGLUCOMUTASE 1; PGM1
182267 SMALL PROLINE-RICH PROTEIN 2A; SPRR2A
182268 SMALL PROLINE-RICH PROTEIN 2B; SPRR2B
189907 TRANSCRIPTION FACTOR 2; TCF2
190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2
600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1
601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR
601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1
602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2
605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
605526 ALZHEIMER DISEASE 6
605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2
606013 F-BOX ONLY PROTEIN 5; FBXO5
606516 MUSCLEBLIND-LIKE PROTEIN 1; MBNL1
607822 ALZHEIMER DISEASE 3
611073 ALZHEIMER DISEASE 12

June 1, 2007

Changed Entries:

107777 AQUAPORIN 2; AQP2
124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4
143100 HUNTINGTON DISEASE; HD
180475 RIBOSOMAL PROTEIN L12; RPL12
181500 SCHIZOPHRENIA; SCZD
204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
225750 AICARDI-GOUTIERES SYNDROME 1; AGS1
300100 ADRENOLEUKODYSTROPHY; ALD
300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2
300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1
601081 ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2
601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9
601665 OBESITY
604163 RIBOSOMAL PROTEIN L3; RPL3
606605 ATR-INTERACTING PROTEIN
606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1
606829 FRATAXIN; FXN
607042 CLN3 GENE; CLN3
607820 HOOK, DROSOPHILA, HOMOLOG OF, 1
608784 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8
609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2
610448 CHILBLAIN LUPUS
610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1
610745 STIMULATED BY RETINOIC ACID 6, MOUSE, HOMOLOG OF; STRA6
610814 MOVED TO 601186
610905 AICARDI-GOUTIERES SYNDROME 5; AGS5
610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO
Clinical Synopsis for 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1

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