PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for March, 2003

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March 28, 2003

New Entries:

607666 ANGIOPOIETIN-LIKE 5; ANGPTL5
607667 CATENIN, ALPHA-3; CTNNA3

Changed Entries:

114025 CATENIN, ALPHA-2; CTNNA2
116805 CATENIN, ALPHA-1; CTNNA1
128700 PREAURICULAR FISTULAE, CONGENITAL
136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
139350 KERATIN 1; KRT1
142750 H4 HISTONE FAMILY, MEMBER N; H4FN
144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
151660 LIPODYSTROPHY, FAMILIAL PARTIAL; FPLD
153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1
158810 MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES
162080 NEURAL RETINA LEUCINE ZIPPER; NRL
164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1
164980 FIBROBLAST GROWTH FACTOR 4; FGF4
168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1
177900 PSORIASIS SUSCEPTIBILITY
190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
268000 RETINITIS PIGMENTOSA; RP
300180 ARYLSULFATASE E; ARSE
302940 MOVED TO 302950
302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1
600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK
601257 DEAD/H BOX 1; DDX1
601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C
602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMKG
602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC
603793 REMOVED FROM DATABASE
605050 MOVED TO 142750
606933 TYROSINASE; TYR
606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
607606 KERATIN 9; KRT9
607666 ANGIOPOIETIN-LIKE 5; ANGPTL5
Clinical Synopsis for 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID
Clinical Synopsis for 302940 MOVED TO 302950
Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS

March 27, 2003

New Entries:

607657 CYSTATHIONINE GAMMA-LYASE; CTH
607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS

Changed Entries:

108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY
123829 CYCLIN-DEPENDENT KINASE 4; CDK4
148067 KERATIN 16; KRT16
153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL
166700 BUSCHKE-OLLENDORFF SYNDROME
167415 PAIRED BOX GENE 8; PAX8
179095 UBIQUITIN-CONJUGATING ENZYME E2B; UBE2B
187270 TELOMERE REVERSE TRANSCRIPTASE; TERT
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
219500 CYSTATHIONINURIA
252940 MUCOPOLYSACCHARIDOSIS TYPE IIID
300229 VARIABLY CHARGED, X CHROMOSOME; VCX
313700 ANDROGEN RECEPTOR; AR
400024 AZOOSPERMIA FACTOR C
415000 AZOOSPERMIA FACTOR 1; AZF1
600389 MEPRIN, BETA SUBUNIT; MEP1B
601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1
602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10
602713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9
602920 LIM AND SH3 PROTEIN 1; LASP1
603050 SPECTRIN SH3 DOMAIN-BINDING PROTEIN 1; SSH3BP1
603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1
603369 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C
603639 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17
605370 GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE
605757 PELOTA, DROSOPHILA, HOMOLOG OF; PELO
607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1
607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS

March 26, 2003

New Entries:

300426 MENTAL RETARDATION, X-LINKED, 34; MRX34
300427 NEUROLIGIN 4
300428 MENTAL RETARDATION, X-LINKED, 2; MRX2
300429 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9
607658 HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME
607659 ELL-ASSOCIATED FACTOR 2
607660 SERINE/THREONINE PROTEIN KINASE 22C; STK22C
607661 SPERM-ASSOCIATED ANTIGEN 10; SPAG10
607662 SPERMATOGENESIS-ASSOCIATED PROTEIN 2; SPATA2
607663 DEAD/H BOX 25; DDX25
Clinical Synopsis for 607624 GRISCELLI SYNDROME, TYPE 2; GS2

Changed Entries:

107265 CD19 ANTIGEN; CD19
117210 CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT PURE
118450 ALAGILLE SYNDROME; AGS
120360 MATRIX METALLOPROTEINASE 2; MMP2
120900 COMPLEMENT COMPONENT 5 DEFICIENCY
147920 KABUKI SYNDROME
153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
155720 MELANOMA, UVEAL
182452 SOMATOSTATIN RECEPTOR 2; SSTR2
182453 SOMATOSTATIN RECEPTOR 3; SSTR3
182455 SOMATOSTATIN RECEPTOR 5; SSTR5
190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1
209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1
216360 COACH SYNDROME
219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC
300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3
300143 MENTAL RETARDATION, X-LINKED, 21; MRX21
300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1
300229 VARIABLY CHARGED, X CHROMOSOME; VCX
300292 FORKHEAD BOX P3; FOXP3
300426 MENTAL RETARDATION, X-LINKED, 34; MRX34
304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY
308850 LARYNGEAL ABDUCTOR PARALYSIS
309470 SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS
309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1
309541 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 3; MRX3
600223 SPINOCEREBELLAR ATAXIA 4; SCA4
600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2
601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG
601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN
601920 JAGGED 1; JAG1
602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
604365 PROMININ 1; PROM1
605234 VOMERONASAL 1 RECEPTOR 1; VN1R1
605912 MATRIX, EXTRACELLULAR, PHOSPHOGLYCOPROTEIN; MEPE
607556 TWIST, DROSOPHILA, HOMOLOG OF, 2; TWIST2
607660 SERINE/THREONINE PROTEIN KINASE 22C; STK22C
Clinical Synopsis for 214450 GRISCELLI SYNDROME, TYPE 1; GS1
Clinical Synopsis for 256710 ELEJALDE SYNDROME

March 25, 2003

New Entries:

607654 KERATOSIS PALMOPLANTARIS STRIATA III
607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME
607656 CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME

Changed Entries:

109480 BASIGIN; BSG
125647 DESMOPLAKIN; DSP
125670 DESMOGLEIN 1; DSG1
137290 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; TACSTD2
139350 KERATIN 1; KRT1
153700 MACULAR DYSTROPHY, VITELLIFORM; VMD
164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2
165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN
175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC
176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1
191170 TUMOR PROTEIN p53; TP53
192090 CADHERIN 1; CDH1
204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE
300370 3-PRIME @REPAIR EXONUCLEASE 2; TREX2
314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST
601090 FORKHEAD BOX CI; FOXC1
601997 BH3-INTERACTING DOMAIN DEATH AGONIST; BID
602315 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 3; MAP2K3
603820 G PROTEIN-COUPLED RECEPTOR 40; GPR40
604229 PETERS ANOMALY
605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
607624 GRISCELLI SYNDROME, TYPE 2; GS2
Clinical Synopsis for 607475 BOTHNIA RETINAL DYSTROPHY

March 24, 2003

New Entries:

607648 SERINE/THREONINE PROTEIN KINASE 39; STK39
607649 GREY-LETHAL, MOUSE, HOMOLOG OF
607650 DEFENSIN, BETA, 118; DEFB118
607651 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY B, MEMBER 1;
607652 SERINE/THREONINE PROTEIN KINASE 36; STK36
607653 RAS HOMOLOG GENE FAMILY, MEMBER J; ARHJ

Changed Entries:

114550 HEPATOCELLULAR CARCINOMA
115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A
120330 PAPILLORENAL SYNDROME
133239 ESOPHAGEAL CANCER
139395 GUSTDUCIN, ALPHA POLYPEPTIDE
147558 INTEGRIN, BETA-6; ITGB6
151990 LIPOPOLYSACCHARIDE-BINDING PROTEIN; LBP
155720 MELANOMA, UVEAL
167409 PAIRED BOX GENE 2; PAX2
172405 PHOSPHOLAMBAN; PLN
175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC
189973 TRANSCRIPTION FACTOR ELF 1; ELF1
190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
193210 INTEGRIN, ALPHA-V; ITGAV
226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1
259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE
600764 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-RELATED; MR1
600803 CHOLELITHIASIS
601046 MATRIX METALLOPROTEINASE 12; MMP12
602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9
603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF
606746 SF20 GENE
607108 PAIRED BOX GENE 6; PAX6

March 23, 2003

Changed Entries:

182290 SMITH-MAGENIS SYNDROME; SMS
600725 SONIC HEDGEHOG; SHH
607642 RETINOIC ACID-INDUCED GENE 1; RAI1

March 21, 2003

New Entries:

607642 RETINOIC ACID-INDUCED GENE 1; RAI1
607643 FASCIN, SEA URCHIN, HOMOLOG OF, 2; FSCN2
607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1
607645 D4S234E GENE; D4S234E
607646 ZINC FINGER PROTEIN 67, MOUSE, HOMOLOG OF; ZFP67
607647 PLASMALEMMA VESICLE-ASSOCIATED PROTEIN; PLVAP

Changed Entries:

114500 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS; HNPCC
147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1
152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1
153440 LYMPHOTOXIN-ALPHA; LTA
155555 MELANOCORTIN 1 RECEPTOR; MC1R
156225 LAMININ, ALPHA-2; LAMA2
184429 SRY-BOX 2; SOX2
185250 MATRIX METALLOPROTEINASE 3; MMP3
206900 ANOPHTHALMOS, TRUE OR PRIMARY
227400 FACTOR V DEFICIENCY
300017 FILAMIN A; FLNA
300049 HETEROTOPIA, PERIVENTRICULAR
304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2
305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD
309350 MELNICK-NEEDLES SYNDROME; MNS
311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
312861 5-@HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C
600201 AGOUTI SIGNALING PROTEIN; ASIP
601098 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C; CMT1C
601517 ATAXIN 2; ATX2
602442 INTERSECTIN 1; ITSN1
603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF
607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1

March 20, 2003

New Entries:

607635 CARBOXYPEPTIDASE A4; CPA4
607637 EMX2 OPPOSITE STRAND
607641 LOWER MOTOR NEURON DISEASE, PROGRESSIVE, WITHOUT SENSORY SYMPTOMS
Clinical Synopsis for 607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD
Clinical Synopsis for 607578 BREATH-HOLDING SPELLS

Changed Entries:

105200 AMYLOIDOSIS, FAMILIAL VISCERAL
105850 ANGIOGENIN; ANG
136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
147950 KALLMANN SYNDROME 2; KAL2
155541 MELANOCORTIN 4 RECEPTOR; MC4R
164160 LEPTIN; LEP
185250 MATRIX METALLOPROTEINASE 3; MMP3
192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
194355 X BOX-BINDING PROTEIN 1; XBP1
212750 CELIAC DISEASE; CD
303100 CHOROIDEREMIA; CHM
308700 KALLMANN SYNDROME 1; KAL1
312600 RETINITIS PIGMENTOSA 2; RP2
600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2
601143 DYNACTIN 1; DCTN1
601230 DERMATITIS HERPETIFORMIS, FAMILIAL
603212 BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2
604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1
604639 NEUREXOPHILIN 1; NXPH1
605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1
605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1
607358 AUTOIMMUNE REGULATOR; AIRE
Clinical Synopsis for 103950 ALPHA-2-MACROGLOBULIN; A2M
Clinical Synopsis for 180000 RETINAL ARTERIES, TORTUOSITY OF
Clinical Synopsis for 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

March 19, 2003

New Entries:

607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I; OPTA1
607636 VAN BUCHEM DISEASE, TYPE 2
607638 DEOXYCYTIDYLATE DEAMINASE; DCTD
607639 PROTEIN WITH 4 GROUP B SCAVENGER RECEPTOR CYSTEINE-RICH DOMAINS; SRCRB4D
Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
Clinical Synopsis for 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

Changed Entries:

124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D
134790 FERRITIN LIGHT CHAIN; FTL
137215 GASTRIC CANCER
144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS
147450 SUPEROXIDE DISMUTASE 1; SOD1
160900 DYSTROPHIA MYOTONICA 1
166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; OPTA2
176807 PROSTATE CANCER
203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1
203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2
239100 HYPEROSTOSIS CORTICALIS GENERALISATA
300278 NYCTALOPIN
300500 ALBINISM, OCULAR, TYPE I; OA1
301500 FABRY DISEASE
303100 CHOROIDEREMIA; CHM
310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1
600929 CRYSTALLIN, BETA-B1; CRYBB1
601400 SQUAMOUS CELL CARCINOMA, HEAD AND NECK
601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5
603726 FIBROBLAST GROWTH FACTOR 18; FGF18
605299 NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6
606933 TYROSINASE; TYR
607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME
607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
Clinical Synopsis for 203300 HERMANSKY-PUDLAK SYNDROME; HPS

March 18, 2003

New Entries:

607633 XANTHINE DEHYDROGENASE; XDH

Changed Entries:

102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML
104300 ALZHEIMER DISEASE; AD
109200 ALOPECIA, ANDROGENETIC
109565 B-CELL LYMPHOMA 6; BCL6
113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1
124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4
137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN
137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1
137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2
137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3
146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3
160777 MYOSIN VA; MYO5A
164761 RET PROTOONCOGENE; RET
164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT
165120 V-YES-1 YAMAGUCHI SARCOMA VIRAL RELATED ONCOGENE HOMOLOG; LYN
167420 PAIRED MESODERM HOMEO BOX 1; PMX1
176300 TRANSTHYRETIN; TTR
187680 THIOPURINE S-METHYLTRANSFERASE; TPMT
190196 TRANSGLUTAMINASE 2; TGM2
190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2
191305 TYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK
193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI
209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF
210600 SECKEL SYNDROME
214450 GRISCELLI SYNDROME, TYPE 1; GS1
218040 COSTELLO SYNDROME
220150 HYPOURICEMIA, RENAL
242050 HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY
242300 ICHTHYOSIS, LAMELLAR, 1; LI1
256710 ELEJALDE SYNDROME
278300 XANTHINURIA, TYPE I
300192 SARCOMA, SYNOVIAL, X BREAKPOINT 2; SSX2
300202 SEDLIN; SEDL
312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1
313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,
600192 SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18; SS18
600810 PHOSPHOLIPASE C, BETA-4; PLCB4
600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF
600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR
601481 MYOSIN X; MYO10
602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;
602270 ANTIOXIDANT PROTEIN 1; ATOX1
602833 H4 HISTONE FAMILY, MEMBER M; HIST1H4I
603197 NEUROPATHY TARGET ESTERASE
603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
603592 XANTHINURIA, TYPE II
603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10
603790 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1
603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2
603851 PAIRED MESODERM HOMEO BOX 2B; PMX2B
603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A
604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2
604675 PAIRED-RELATED HOMEO BOX GENE 2; PRRX2
607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
607624 GRISCELLI SYNDROME, TYPE 2; GS2
607633 XANTHINE DEHYDROGENASE; XDH

March 17, 2003

New Entries:

607629 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, A
607630 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, B
607632 PRESENILIN ENHANCER 2, C. ELEGANS, HOMOLOG OF
Clinical Synopsis for 607475 BOTHNIA RETINAL DYSTROPHY

Changed Entries:

104311 PRESENILIN 1; PSEN1
104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP
116952 CELL DIVISION CYCLE 42; CDC42
123400 CREUTZFELDT-JAKOB DISEASE; CJD
157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT
162200 NEUROFIBROMATOSIS, TYPE I; NF1
176640 PRION PROTEIN; PRNP
180000 RETINAL ARTERIES, TORTUOSITY OF
600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8
600759 PRESENILIN 2; PSEN2
600997 EPHRIN RECEPTOR EphB2; EPHB2
601380 EPHRIN A4; EFNA4
601381 EPHRIN A3; EFNA3
602188 EPHRIN RECEPTOR EphA4; EPHA4
602442 INTERSECTIN 1; ITSN1
603876 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5
604933 MutY, E. COLI, HOMOLOG OF; MUTYH
605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL
605254 NICASTRIN
605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; ARHQ
606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY
607475 BOTHNIA RETINAL DYSTROPHY
607485 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD

March 14, 2003

New Entries:

607624 GRISCELLI SYNDROME, TYPE 2; GS2
607627 BREAST CANCER- AND SALIVARY GLAND-EXPRESSED GENE

Changed Entries:

160777 MYOSIN VA; MYO5A
162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4
214450 GRISCELLI SYNDROME, TYPE 1; GS1
256710 ELEJALDE SYNDROME
264700 PSEUDOVITAMIN D DEFICIENCY RICKETS
268000 RETINITIS PIGMENTOSA; RP
305371 GATA-BINDING PROTEIN 1; GATA1
502000 AGING
535000 LEBER OPTIC ATROPHY
600140 CREB-BINDING PROTEIN; CREBBP
600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12
600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11
601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2
601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601602 TRANSCRIPTION FACTOR AP2-GAMMA; TFAP2C
601613 BURKITT LYMPHOMA RECEPTOR 1; BLR1
602054 T-BOX 1; TBX1
603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A
603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5
605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13
605530 UPF3, YEAST, HOMOLOG OF, A; UPF3A
Clinical Synopsis for 208900 ATAXIA-TELANGIECTASIA; AT
Clinical Synopsis for 607594 ICOS DEFICIENCY

March 13, 2003

New Entries:

607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
607616 NIEMANN-PICK DISEASE, TYPE B
607623 NPC1 GENE; NPC1
607625 NIEMANN-PICK DISEASE, TYPE C2
607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
Clinical Synopsis for 257250 NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY

Changed Entries:

114350 NUCLEOPORIN, 214-KD; NUP214
134790 FERRITIN LIGHT CHAIN; FTL
136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL
148067 KERATIN 16; KRT16
156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1
166710 OSTEOPOROSIS, INVOLUTIONAL
180380 RHODOPSIN; RHO
203300 HERMANSKY-PUDLAK SYNDROME; HPS
227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
257200 NIEMANN-PICK DISEASE, TYPE A
257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1
276903 MYOSIN VIIA; MYO7A
300413 MUSCLEBLIND-LIKE PROTEIN 3; MBNL3
600118 WARBURG MICRO SYNDROME 1; WARBM1
600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB
600764 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-RELATED; MR1
601015 NPC2 GENE; NPC2
601248 BRIDGING INTEGRATOR 1; BIN1
601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5
601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101
601652 MYOCILIN; MYOC
601873 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE; GALGT
602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
602776 REV3, S. CEREVISIAE, HOMOLOG OF; REV3L
603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1
603417 RAB-INTERACTING FACTOR; RABIF
603498 SPHINGOMYELIN PHOSPHODIESTERASE 2, NEUTRAL MEMBRANE; SMPD2
604094 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 2; MAD2L2
604653 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),
604982 HPS1 GENE; HPS1
605147 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 1; LECT1
605242 USH1C GENE; USH1C
605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4
605516 CADHERIN 23; CDH23
605586 IMPORTIN 7; IPO7
605600 IMPORTIN 8; IPO8
605664 KINESIN FAMILY MEMBER 20A; KIF20A
605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3
606118 HPS3 GENE; HPS3
606134 REV1, S. CEREVISIAE, HOMOLOG OF; REV1L
606140 EXPORTIN 7; XPO7
606516 MUSCLEBLIND-LIKE PROTEIN 1; MBNL1
606682 HPS4 GENE; HPS4
606928 BONE MINERAL DENSITY VARIATION 3
607048 START DOMAIN-CONTAINING PROTEIN 3
607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
607327 MUSCLEBLIND-LIKE PROTEIN 2; MBNL2
607521 HPS5 GENE; HPS5
607522 HPS6 GENE
607616 NIEMANN-PICK DISEASE, TYPE B
Clinical Synopsis for 129400 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE
Clinical Synopsis for 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
Clinical Synopsis for 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT
Clinical Synopsis for 190320 TRICHODENTOOSSEOUS SYNDROME
Clinical Synopsis for 246800 LIPIDOSIS, JUVENILE DYSTONIC
Clinical Synopsis for 257050 NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA
Clinical Synopsis for 601015 NPC2 GENE; NPC2

March 12, 2003

Changed Entries:

138322 GLUTATHIONE PEROXIDASE 4; GPX4
139350 KERATIN 1; KRT1
143470 HYPERALPHALIPOPROTEINEMIA
160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
163731 NITRIC OXIDE SYNTHASE 1; NOS1
163890 SYNUCLEIN, ALPHA; SNCA
175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC
177000 PROTOPORPHYRIA, ERYTHROPOIETIC
188840 TITIN; TTN
190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1
201810 ADRENAL HYPERPLASIA II
209901 BBS1 GENE; BBS1
227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
300298 UPF3, YEAST, HOMOLOG OF, B; UPF3B
502000 AGING
600194 KERATIN 2A; KRT2A
600962 NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NEPPK
602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
602714 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 12; ADAM12
603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1
603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1
604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2
604653 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER),
604918 PICCOLO, MOUSE, HOMOLOG OF; PCLO
604982 HERMANSKY-PUDLAK SYNDROME GENE 1; HPS1
605529 UPF2, YEAST, HOMOLOG OF; UPF2
606118 HERMANSKY-PUDLAK SYNDROME GENE 3; HPS3
606682 HERMANSKY-PUDLAK SYNDROME GENE 4; HPS4
607223 SPARC-RELATED MODULAR CALCIUM-BINDING PROTEIN 2; SMOC2
607261 ELLIS-VAN CREVELD SYNDROME GENE 2; EVC2
607521 HERMANSKY-PUDLAK SYNDROME GENE 5; HPS5
607522 HERMANSKY-PUDLAK SYNDROME GENE 6

March 11, 2003

New Entries:

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
607620 COLLECTIN 10; COLEC10

Changed Entries:

102577 ACTIVATOR 1, 37-KD SUBUNIT; RFC4
102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML
102579 REPLICATION FACTOR C, 140-KD SUBUNIT; RFC1
106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS
107650 APNEA, OBSTRUCTIVE SLEEP
113705 BREAST CANCER, TYPE 1; BRCA1
116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A
116947 CELL DIVISION CYCLE 25A; CDC25A
116953 CYCLIN-DEPENDENT KINASE 2; CDK2
120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1
120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2
126420 TOPOISOMERASE, DNA, I; TOP1
129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2
134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB
135630 INTEGRIN, BETA-1; ITGB1
139350 KERATIN 1; KRT1
141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2
141900 HEMOGLOBIN--BETA LOCUS; HBB
146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM
148070 KERATIN 18; KRT18
148370 KERATOLYTIC WINTER ERYTHEMA
153700 MACULAR DYSTROPHY, VITELLIFORM; VMD
153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR
164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF
175200 PEUTZ-JEGHERS SYNDROME; PJS
186960 T-CELL LEUKEMIA/LYMPHOMA 1A; TCL1A
189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1
191343 RIBOSOMAL PROTEIN S27a; RPS27A
203750 ALPHA-METHYLACETOACETICACIDURIA
211980 LUNG CANCER
235200 HEMOCHROMATOSIS; HFE
235400 HEMOLYTIC-UREMIC SYNDROME; HUS
251260 NIJMEGEN BREAKAGE SYNDROME
258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY
270420 SODIUM DIARRHEA, CONGENITAL
300142 p21-ACTIVATED KINASE 3; PAK3
305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
313470 CD99 ANTIGEN; CD99
600040 BCL2-ASSOCIATED X PROTEIN; BAX
600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB
600404 REPLICATION FACTOR C, SUBUNIT 2; RFC2
600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6
600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A
600885 BERLIN BREAKAGE SYNDROME
600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC
600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; MADH4
601104 SUPRANUCLEAR PALSY, PROGRESSIVE; PSP
601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR
601235 DEAD/H BOX 10; DDX10
601448 NUCLEAR PROTEIN, ATAXIA-TELANGIECTASIA LOCUS; NPAT
601625 ADP-RIBOSYLTRANSFERASE 1; ART1
601741 CULLIN 5; CUL5
602166 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-2 SUBUNIT; AP3B2
602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE;
602797 H2A HISTONE FAMILY, MEMBER Q; H2AFQ
603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1
603139 RAD17, S. POMBE, HOMOLOG OF; RAD17
603465 CELL DIVISION CYCLE 45, S. CEREVISIAE, HOMOLOG-LIKE; CDC45L
603760 HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF; HUS1
603930 GEPHYRIN; GPH
603931 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E; ATP6V0E
604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50
604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8
604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1
604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2
604610 RECQ PROTEIN-LIKE 3; RECQL3
605027 LYMPHOMA, NON-HODGKIN, FAMILIAL
605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11
605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1
606605 3-PRIME @REPAIR EXONUCLEASE 1; TREX1
606817 PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR
606829 FRDA GENE; FRDA
607330 LATHOSTEROLOSIS
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1
607594 ICOS DEFICIENCY
Clinical Synopsis for 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
Clinical Synopsis for 151100 LEOPARD SYNDROME
Clinical Synopsis for 208900 ATAXIA-TELANGIECTASIA; AT
Clinical Synopsis for 607594 ICOS DEFICIENCY

March 10, 2003

New Entries:

607619 NONERYTHROID PROTEIN 4.1, OVARY TYPE
607620 COLLECTIN 10; COLEC10
607621 COLLECTIN 12; COLEC12
607622 PHOSPHOMEVALONATE KINASE; PMVK

Changed Entries:

113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41
139350 KERATIN 1; KRT1
144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM
148067 KERATIN 16; KRT16
148700 KERATOSIS PALMOPLANTARIS STRIATA I
154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2
159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL
164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA
166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II
178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1
178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD
178642 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2
180200 RETINOBLASTOMA; RB1
227500 FACTOR VII DEFICIENCY
235200 HEMOCHROMATOSIS; HFE
265120 PULMONARY ALVEOLAR PROTEINOSIS
277900 WILSON DISEASE
600962 NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NEPPK
602479 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1
602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
602727 CHLORIDE CHANNEL 7; CLCN7
602879 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 1; EPB41L1
603221 MYOPIA 3; MYP3
603237 ERYTHROCYTE MEMBRANE PROTEIN 4.1-LIKE 2; EPB41L2
603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5
605331 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 3; EPB41L3
605516 CADHERIN 23; CDH23
605565 RESISTIN
605956 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15
607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES
Clinical Synopsis for 607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES

March 7, 2003

New Entries:

607606 KERATIN 9; KRT9
607609 PEPTIDYL-PROLYL ISOMERASE-LIKE 4; PPIL4
607610 PHOSPHOLIPID SCRAMBLASE 2; PLSCR2
607611 PHOSPHOLIPID SCRAMBLASE 3; PLSCR3
607612 PHOSPHOLIPID SCRAMBLASE 4; PLSCR4
607613 NUCLEOPORIN, 133-KD; NUP133
607614 NUCLEOPORIN, 160-KD; NUP160
607615 NUCLEOPORIN-LIKE 1; NUPL1
607617 NUCLEOPORIN, 107-KD
607618 DEAD/H BOX 28; DDX28

Changed Entries:

110600 BLOOD GROUP--DOMBROCK SYSTEM; DO
113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
139350 KERATIN 1; KRT1
144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS
166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II
176270 PRADER-WILLI SYNDROME; PWS
188400 DIGEORGE SYNDROME; DGS
209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1
243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME
268300 ROBERTS SYNDROME; RBS
309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1
600194 KERATIN 2A; KRT2A
600202 DYSLEXIA, SPECIFIC, 2; DYX2
602727 CHLORIDE CHANNEL 7; CLCN7
603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5
603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE
604170 PHOSPHOLIPID SCRAMBLASE 1; PLSCR1
604640 T-CELL LEUKEMIA HOMEO BOX 3; TLX3
604966 PROTOCADHERIN-ALPHA GENE CLUSTER
606463 GLUCOSIDASE, ACID BETA; GBA
607613 NUCLEOPORIN, 133-KD; NUP133
607614 NUCLEOPORIN, 160-KD; NUP160

March 6, 2003

New Entries:

607584 SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
607595 INFANTILE HEMIPARESIS, RETINAL ARTERIOLAR TORTUOSITY, AND LEUKOENCEPHALOPATHY,
607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
607603 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 4; KCNG4
607604 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 2; KCNV2
607605 GLUTATHIONE S-TRANSFERASE, ALPHA-5; GSTA5
607607 NUCLEOPORIN, 54-KD; NUP54
Clinical Synopsis for 607584 SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
Clinical Synopsis for 607595 INFANTILE HEMIPARESIS, RETINAL ARTERIOLAR TORTUOSITY, AND LEUKOENCEPHALOPATHY,

Changed Entries:

104300 ALZHEIMER DISEASE; AD
119530 OROFACIAL CLEFT 1; OFC1
121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
126065 CYTOCHROME P450, FAMILY 24, SUBFAMILY A, POLYPEPTIDE 1; CYP24A1
130000 EHLERS-DANLOS SYNDROME, TYPE I; EDS1
130010 EHLERS-DANLOS SYNDROME, TYPE II; EDS2
130020 EHLERS-DANLOS SYNDROME, TYPE III
131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
138359 GLUTATHIONE S-TRANSFERASE, ALPHA-1; GSTA1
138360 GLUTATHIONE S-TRANSFERASE, ALPHA-2; GSTA2
139350 KERATIN 1; KRT1
139600 HAIRY ELBOWS
148080 KERATIN 10; KRT10
209901 BBS1 GENE; BBS1
227260 FACIAL ECTODERMAL DYSPLASIA
300126 DYSKERIN; DKC1
305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC
309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1
600397 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1;
604087 CYTOCHROME P450, FAMILY 46, SUBFAMILY A, POLYPEPTIDE 1; CYP46A1
604250 HEMOCHROMATOSIS, TYPE 3; HFE3
604720 TRANSFERRIN RECEPTOR 2; TFR2
605449 GLUTATHIONE S-TRANSFERASE, ALPHA-3; GSTA3
605450 GLUTATHIONE S-TRANSFERASE, ALPHA-4; GSTA4
606069 HEMOCHROMATOSIS, TYPE 4; HFE4
606168 DEAD/H BOX 20; DDX20
606767 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 3; KCNG3
607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3
607556 DERMIS-EXPRESSED PROTEIN 1, MOUSE, HOMOLOG OF
607584 SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
607604 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 2; KCNV2
Clinical Synopsis for 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

March 5, 2003

New Entries:

607600 EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC
607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1

Changed Entries:

103390 AHNAK NUCLEOPROTEIN; AHNAK
107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1
119530 OROFACIAL CLEFT 1; OFC1
120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1
130000 EHLERS-DANLOS SYNDROME, TYPE I; EDS1
131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1
147290 INHIBIN, BETA A; INHBA
147920 KABUKI SYNDROME
182290 SMITH-MAGENIS SYNDROME; SMS
190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
190470 TRIPEPTIDYL PEPTIDASE II; TPP2
191130 TUBULIN, BETA; TUBB
202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
215140 CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE
216550 COHEN SYNDROME; COH1
600386 INHIBITOR OF DNA BINDING 2; ID2
601214 NAXOS DISEASE
601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D
601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2
603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1
605035 WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY, MEMBER 1; WASF1
605044 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 8; CRSP8
605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
606058 cAMP-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR II
606525 SLIT-ROBO GTPase-ACTIVATING PROTEIN, RHO, 3
606767 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 3; KCNG3
606869 HEXOSAMINIDASE A; HEXA

March 4, 2003

New Entries:

607594 ICOS DEFICIENCY
607596 PONTOCEREBELLAR HYPOPLASIA, TYPE I
607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES
607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2
607599 RETINOL DEHYDROGENASE 10; RDH10
Clinical Synopsis for 607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES
Clinical Synopsis for 607594 ICOS DEFICIENCY

Changed Entries:

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1
107650 APNEA, OBSTRUCTIVE SLEEP
108300 STICKLER SYNDROME, TYPE I; STL1
120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1
120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1
130080 EHLERS-DANLOS SYNDROME, TYPE VIII
134390 COAGULATION FACTOR III; F3
134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6
139600 HAIRY ELBOWS
139900 HAND SKILL, RELATIVE; HSR
172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1
173510 CD36 ANTIGEN; CD36
176920 PROTEUS SYNDROME
188040 THROMBOMODULIN; THBD
188400 DIGEORGE SYNDROME; DGS
189971 E2F TRANSCRIPTION FACTOR 1; E2F1
190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1; NOTCH1
191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
192320 VASOACTIVE INTESTINAL PEPTIDE; VIP
192430 VELOCARDIOFACIAL SYNDROME
192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
209900 BARDET-BIEDL SYNDROME; BBS
240500 COMMON VARIABLE IMMUNODEFICIENCY
253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1
266500 REFSUM DISEASE
266510 REFSUM DISEASE, INFANTILE FORM
268220 RHABDOMYOSARCOMA 2; RMS2
269250 SCHNECKENBECKEN DYSPLASIA
278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3
300205 EMOPAMIL-BINDING PROTEIN; EBP
302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
303600 COFFIN-LOWRY SYNDROME; CLS
600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO
600615 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7; LGALS7
600659 E2F TRANSCRIPTION FACTOR 4; E2F4
601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7
602576 LUNATIC FRINGE; LFNG
602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A
603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1
604558 INDUCIBLE COSTIMULATOR; ICOS
605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1
605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2
605717 B7 HOMOLOG 2
605802 ZINC FINGER HOMEO BOX 1B; ZFHX1B
606039 CHEMOKINE RECEPTOR HM74
606767 POTASSIUM VOLTAGE-GATED CHANNEL, SUBFAMILY G; MEMBER 3; KCNG3
606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B
607594 ICOS DEFICIENCY
607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2
Clinical Synopsis for 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
Clinical Synopsis for 241200 BARTTER SYNDROME
Clinical Synopsis for 607323 DUANE-RADIAL RAY SYNDROME; DRRS

March 3, 2003

New Entries:

300424 RETINITIS PIGMENTOSA 23; RP23

Changed Entries:

106150 ANGIOTENSIN I; AGT
106210 ANIRIDIA, TYPE II; AN2
108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1
109270 SOLUTE CARRIER FAMILY 4, ANION EXCHANGER, MEMBER 1; SLC4A1
114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C
116790 CATECHOL-O-METHYLTRANSFERASE; COMT
116952 CELL DIVISION CYCLE 42; CDC42
135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; FEOM1
140300 HASHIMOTO THYROIDITIS
141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1
147670 INSULIN RECEPTOR; INSR
147681 INTERLEUKIN 11; IL11
162323 TACHYKININ RECEPTOR 1; TACR1
164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2
172430 ENOLASE 1; ENO1
174050 POLYCYSTIC LIVER DISEASE; PCLD
175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC
176982 PROTEIN KINASE C, ZETA FORM; PRKCZ
180200 RETINOBLASTOMA; RB1
180901 RYANODINE RECEPTOR 1; RYR1
187360 TEMPORAL ARTERITIS
189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1
192090 CADHERIN 1; CDH1
225500 ELLIS-VAN CREVELD SYNDROME; EVC
229600 FRUCTOSE INTOLERANCE, HEREDITARY
242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
261100 MEGALOBLASTIC ANEMIA 1; MGA1
300202 SEDLIN; SEDL
300241 G PROTEIN-COUPLED RECEPTOR 34; GPR34
300379 PUTATIVE RING ZINC FINGER PROTEIN NY-REN-43 ANTIGEN
300424 RETINITIS PIGMENTOSA 23; RP23
600018 OPIOID RECEPTOR, MU-1; OPRM1
600450 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2; AKR1C2
600451 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4; AKR1C4
600896 G PROTEIN-COUPLED RECEPTOR 14; GPR14
601107 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 2; ABCC2
601199 CALCIUM-SENSING RECEPTOR; CASR
601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5
602098 POLO-LIKE KINASE; PLK
602115 FIBROBLAST GROWTH FACTOR 10; FGF10
602395 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE, MITOCHONDRIAL
603247 SOLUTE CARRIER FAMILY 27, MEMBER 2; SLC27A2
603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER
603820 G PROTEIN-COUPLED RECEPTOR 40; GPR40
604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1
604479 SIRTUIN 1; SIRT1
604629 MATRIX METALLOPROTEINASE 20; MMP20
605147 CHONDROMODULIN I
605216 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4
605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18
605537 ACTIVATING TRANSCRIPTION FACTOR 6; ATF6
605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS
605799 AMNIONLESS, MOUSE, HOMOLOG OF; AMN
606751 TRANSMEMBRANE PROTEASE, SERINE 5; TMPRSS5
607140 ANGIOID STREAKS
607172 LKB1-INTERACTING PROTEIN 1
607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A
607590 BBS7 GENE; BBS7

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