OMIM Update List for September, 2004

PubMed

Nucleotide

Protein

Genome

OMIM Update List for September, 2004

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September 29, 2004
New Entries:: 608953 TEKTIN 2; TEKT2
Changed Entries:: 114840 CARBOXYL-ESTER LIPASE; CEL; 131235 KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 1; KDELR1; 142623 HIRSCHSPRUNG DISEASE; 162080 NEURAL RETINA LEUCINE ZIPPER; NRL; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 170280 PERFORIN 1; PRF1; 180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65; 180102 MOVED TO 180380; 180380 RHODOPSIN; RHO; 203285 ALBINISM WITH IMMUNE AND HEMATOLOGIC DEFECTS; 233400 GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; 259780 OTOONYCHOPERONEAL SYNDROME; 268000 RETINITIS PIGMENTOSA; RP; 300029 RETINITIS PIGMENTOSA 15; RP15; 312600 RETINITIS PIGMENTOSA 2, X-LINKED; RP2; 600595 TETRATRICOPEPTIDE REPEAT DOMAIN 10; TTC10; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; 604273 ATPAF2 DEFICIENCY; 604659 ENDOGENOUS RETROVIRAL FAMILY W, ENV-C7, MEMBER 1; ERVWE1; 607386 SELECTIVE LIM-BINDING FACTOR, RAT, HOMOLOG OF; 608918 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 2; ATPAF2

September 28, 2004
New Entries:: 608949 GLYCOLIPID TRANSFER PROTEIN; 608950 PLATELET RECEPTOR FOR TYPE III COLLAGEN, 47-KD; 608951 CCR4, S. CEREVISIAE, HOMOLOG OF; 608952 RAP1-INTERACTING FACTOR 1, YEAST, HOMOLOG OF
Changed Entries:: 104311 PRESENILIN 1; PSEN1; 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP; 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 114610 CANNABINOID RECEPTOR 1; CNR1; 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3; 142994 HOMEOBOX GENE HB9; HLXB9; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA; 176450 CURRARINO SYNDROME; 191510 GENE UPSTREAM OF NRAS; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 207410 ANTLEY-BIXLER SYNDROME; ABS; 233400 GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; 600118 WARBURG MICRO SYNDROME 1; WARBM1; 601385 TUMOR SUPPRESSOR CANDIDATE 3; TUSC3; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR; 603731 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 8; CNOT8; 604249 RETICULON 3; RTN3; 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME; BACE; 604909 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 2; CNOT2; 604910 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 3; CNOT3; 604911 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 4; CNOT4; 604913 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 7; CNOT7; 604917 NEGATIVE REGULATOR OF TRANSCRIPTION 1, S. CEREVISIAE, HOMOLOG OF;; 604963 PEPTIDOGLYCAN RECOGNITION PROTEIN 1; PGLYRP1; 605353 GHRELIN; 606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A; 607052 TUMOR SUPPRESSOR CANDIDATE 2; TUSC2; 607072 TUMOR SUPPRESSOR CANDIDATE 4; TUSC4; 608197 PEPTIDOGLYCAN RECOGNITION PROTEIN 3; PGLYRP3; 608198 PEPTIDOGLYCAN RECOGNITION PROTEIN 4; PGLYRP4; 608199 PEPTIDOGLYCAN RECOGNITION PROTEIN 2; PGLYRP2; 608468 CARBON CATABOLITE REPRESSION 4-LIKE; CCRN4L

September 27, 2004
New Entries:: 608936 PROLINE-RICH 1; PROL1; 608942 DYNEIN LIGHT CHAIN 2; 608943 CYTOKINE-INDUCED APOPTOSIS INHIBITOR 1; CIAPIN1; 608944 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; 608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; 608946 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 3; 608947 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING 13; KCTD13; 608948 ZINC FINGER PROTEIN OF CEREBELLUM, 4; ZIC4
Changed Entries:: 142994 HOMEOBOX GENE HB9; HLXB9; 176450 CURRARINO SYNDROME; 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT; 193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1; 233400 GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; 259780 OTOONYCHOPERONEAL SYNDROME; 600815 POLYMERASE, DNA, DELTA, SMALL SUBUNIT; POLD2; 601562 DYNEIN, CYTOPLASMIC, LIGHT CHAIN 1; DNCL1; 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR; 605353 GHRELIN; 606266 BCL2-MODIFYING FACTOR; BMF; 608103 ALG8, S. CEREVISIAE, HOMOLOG OF; 608942 DYNEIN LIGHT CHAIN 2; 608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2

September 24, 2004
New Entries:: 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
Changed Entries:: 100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; 103780 ALCOHOLISM; 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 167780 PANCREATIC POLYPEPTIDE/PANCREATIC ICOSAPEPTIDE; PPY; 170280 PERFORIN 1; PRF1; 180103 MOVED TO 500004; 207410 ANTLEY-BIXLER SYNDROME; ABS; 213980 CEREBROFACIOTHORACIC DYSPLASIA; 218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 267700 RETICULOSIS, FAMILIAL HISTIOCYTIC; 590085 TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2; 600900 SARCOGLYCAN, BETA; SGCB; 601599 SARCOSPAN; SSPN; 601850 MOVED TO 500004; 602782 HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS; 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; 604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; 606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608629 JOUBERT SYNDROME 3; JBTS3; 608894 ABELSON HELPER INTEGRATION SITE 1; AHI1; 608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; Clinical Synopsis for 236680 HYDROLETHALUS SYNDROME

September 23, 2004
New Entries:: 608941 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-3; GNG3
Changed Entries:: 103780 ALCOHOLISM; 124092 INTERLEUKIN 10; IL10; 131300 CAMURATI-ENGELMANN DISEASE; 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 181500 SCHIZOPHRENIA; SCZD; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 191092 TSC2 GENE; TSC2; 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600212 FATTY ACID SYNTHASE; FASN; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601289 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN,; 601293 RAS HOMOLOG ENRICHED IN BRAIN 2; RHEB2; 602081 SPEECH-LANGUAGE DISORDER 1; SPCH1; 602223 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 1; EIF4EBP1; 603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2; 603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1; 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3; 604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605284 TSC1 GENE; TSC1; 606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO; 607032 PI3-KINASE-RELATED KINASE SMG1; 607130 REGULATORY ASSOCIATED PROTEIN OF MTOR; 607410 DIENCEPHALON/MESENCEPHALON HOMEOBOX 1; DMBX1; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1; Clinical Synopsis for 219700 CYSTIC FIBROSIS; CF

September 22, 2004
New Entries:: 608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1; 608939 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 2; RPS6KB2
Changed Entries:: 602544 PARKIN; PARK2

September 22, 2004
New Entries:: 608902 DEBRISOQUINE, POOR METABOLISM OF; 608923 TRACE AMINE RECEPTOR 4; TRAR4; 608925 MULTIMERIN 2; MMRN2; 608926 EMI DOMAIN-CONTAINING PROTEIN 1; EMID1; 608927 EMI DOMAIN-CONTAINING PROTEIN 2; EMID2; 608928 ELASTIN MICROFIBRIL INTERFACER 2; EMILIN2; 608929 ELASTIN MICROFIBRIL INTERFACER 3; EMILIN3; 608932 KERATOCONUS 2; 608933 ENDONUCLEASE VIII-LIKE 2; NEIL2; 608934 ENDONUCLEASE VIII-LIKE 3; 608935 LUNG CANCER 1; 608937 SH2B, MOUSE, HOMOLOG OF
Changed Entries:: 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6; 128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1; 131222 ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED; ECGF1; 134797 FIBRILLIN 1; FBN1; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB; 134850 FIBRINOGEN, G GAMMA POLYPEPTIDE; FGG; 140300 HASHIMOTO THYROIDITIS; 147150 MYXOVIRUS RESISTANCE 1, MOUSE, HOMOLOG OF; MX1; 148300 KERATOCONUS 1; KTCN1; 151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL; 161561 INTERLEUKIN 12B; IL12B; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 168600 PARKINSON DISEASE; PD; 170280 PERFORIN 1; PRF1; 176640 PRION PROTEIN; PRNP; 176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70; 178500 PULMONARY FIBROSIS, IDIOPATHIC; 182135 5-@HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A; 189889 TRANSCRIPTION FACTOR CP2; TFCP2; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 202400 AFIBRINOGENEMIA, CONGENITAL; 202700 NEUTROPENIA, SEVERE CONGENITAL; SCN; 211980 LUNG CANCER; 212060 CARBIMAZOLE SENSITIVITY; 228520 FIBROCHONDROGENESIS; 230200 GALACTOKINASE DEFICIENCY; 231090 HYDATIDIFORM MOLE; 235200 HEMOCHROMATOSIS; HFE; 243305 INVERSIN; INVS; 252150 MOLYBDENUM COFACTOR DEFICIENCY; 253250 MULIBREY NANISM; 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C; 254500 MYELOMA, MULTIPLE; 254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN; 264900 PTA DEFICIENCY; 275000 GRAVES DISEASE; 305371 GATA-BINDING PROTEIN 1; GATA1; 600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE; 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG; 600807 ASTHMA SUSCEPTIBILITY; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C; 601215 ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL; 601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D; 601456 MULTIMERIN 1; MMRN1; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;; 601684 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 1; RPS6KA1; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2; 601950 ZINC FINGER PROTEIN, MULTITYPE 1; ZFPM1; 602088 NEPHRONOPHTHISIS 2; NPHP2; 602096 ALZHEIMER DISEASE, FAMILIAL, TYPE 5; 602212 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1; SIAH1; 602544 PARKIN; PARK2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE; 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; MADH3; 603175 SCHIZOPHRENIA 5; SCZD5; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604265 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 2; CELSR2; 604273 COMPLEX V, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; 604313 GALACTOKINASE 1; GALK1; 604927 C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF,; 605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1; 605126 ACTIVATOR OF CREM IN TESTIS; 605262 NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1; 605565 RESISTIN; RETN; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 606658 SPINOCEREBELLAR ATAXIA 15; SCA15; 606847 TCOF1 GENE; 606927 TRACE AMINE RECEPTOR 5; TRAR5; 606946 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; ANAPC2; 607405 PUTATIVE NEUROTRANSMITTER RECEPTOR; 607440 FCMD GENE; FCMD; 607640 SCA7 GENE; SCA7; 607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP; 608173 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1; 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; 608176 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4; 608282 TRACE AMINE RECEPTOR 3; TRAR3; 608343 NADPH CYTOCHROME b5 OXIDOREDUCTASE; NCB5OR; 608410 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 4; 608448 INFLAMMATORY BOWEL DISEASE 9; IBD9; 608606 BASIC HELIX-LOOP-HELIX PROTEIN MIST1; 608667 NIPPED-B-LIKE; NIPBL; 608844 ENDONUCLEASE VIII-LIKE 1; NEIL1; 608896 SARCOGLYCAN, GAMMA; SGCG; 608908 MYOPIA 6; 608918 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 2; ATPAF2

September 22, 2004
New Entries:: 608923 TRACE AMINE RECEPTOR 4; TRAR4
Changed Entries:: 300126 DYSKERIN; DKC1

September 16, 2004
New Entries:: 608924 FORKHEAD BOX P4; FOXP4
Changed Entries:: 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2; 123805 PHOSPHODIESTERASE 3A, cGMP-INHIBITED; PDE3A; 125647 DESMOPLAKIN; DSP; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 128990 EARLY GROWTH RESPONSE 1; EGR1; 146928 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB; 147670 INSULIN RECEPTOR; INSR; 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3; 193065 VINCULIN; VCL; 600997 EPHRIN RECEPTOR EphB2; EPHB2; 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11; 603186 DEATH-ASSOCIATED PROTEIN 6; DAXX; 604365 PROMININ 1; PROM1; 605077 DNMT1-ASSOCIATED PROTEIN 1; DNMAP1; Clinical Synopsis for 128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1; Clinical Synopsis for 606658 SPINOCEREBELLAR ATAXIA 15; SCA15

September 15, 2004
Changed Entries:: 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1; 188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3; 191525 URACIL-DNA GLYCOSYLASE; UNG; 213300 JOUBERT SYNDROME 1; JBTS1; 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE),; 600050 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 11; MAP3K11; 600997 EPHRIN RECEPTOR EphB2; EPHB2; 601907 NEOGENIN; NEO1; 604649 TUBULIN-SPECIFIC CHAPERONE D; TBCD; 607362 RGM DOMAIN FAMILY, MEMBER A; RGMA; 608629 JOUBERT SYNDROME 3; JBTS3; 608894 ABELSON HELPER INTEGRATION SITE 1; AHI1

September 14, 2004
New Entries:: 608919 TWEETY, DROSOPHILA, HOMOLOG OF, 3; TTYH3; 608920 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 2; PITPNM2; 608921 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PITPNM3; 608922 ARL2-LIKE PROTEIN 1; ARL2L1; Clinical Synopsis for 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL; Clinical Synopsis for 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; Clinical Synopsis for 604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; Clinical Synopsis for 606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1; Clinical Synopsis for 606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2; Clinical Synopsis for 607426 COENZYME Q10 DEFICIENCY; Clinical Synopsis for 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Changed Entries:: 106300 ANKYLOSING SPONDYLITIS; 164160 LEPTIN; LEP; 176807 PROSTATE CANCER; 209900 BARDET-BIEDL SYNDROME; BBS; 209901 BBS1 GENE; BBS1; 270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; 600151 BARDET-BIEDL SYNDROME 3; BBS3; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600997 EPHRIN RECEPTOR EphB2; EPHB2; 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG; 601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA ISOFORM 1; PPP3R1; 601788 GROWTH/DIFFERENTIATION FACTOR 8; GDF8; 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1; 602049 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2; RAC2; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1; CARM1; 605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4; 605784 TWEETY, DROSOPHILA, HOMOLOG OF, 1; TTYH1; 606621 ESTROGEN-RELATED RECEPTOR-BETA-LIKE 1; ESRRBL1; 608440 LACTAMASE, BETA; LACTB; 608794 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 1; PITPNM1; 608845 ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6; 608855 TWEETY, DROSOPHILA, HOMOLOG OF, 2; TTYH2; Clinical Synopsis for 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; Clinical Synopsis for 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI; Clinical Synopsis for 600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE; Clinical Synopsis for 604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; Clinical Synopsis for 606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1; Clinical Synopsis for 608545 LARSEN-LIKE SYNDROME

September 13, 2004
New Entries:: 608911 CHOANAL ATRESIA, POSTERIOR; PCA; 608912 PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME; 608913 ACTIN, BETA-LIKE, 1; ACTBL1; 608914 PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME; 608915 PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME; 608916 PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME; 608917 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 1; ATPAF1; 608918 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 2; ATPAF2; Clinical Synopsis for 608545 LARSEN-LIKE SYNDROME; Clinical Synopsis for 608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY; Clinical Synopsis for 608637 SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE; Clinical Synopsis for 608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5; Clinical Synopsis for 608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF
Changed Entries:: 107741 APOLIPOPROTEIN E; APOE; 128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1; 188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 214800 CHARGE SYNDROME; 231090 HYDATIDIFORM MOLE; 234500 HARTNUP DISORDER; 243305 INVERSIN; INVS; 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C; 604232 LEBER CONGENITAL AMAUROSIS, TYPE III; 606596 FUKUTIN-RELATED PROTEIN; FKRP; 606946 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; ANAPC2; 607549 ANKYRIN REPEAT DOMAIN 21; ANKRD21; 608545 LARSEN-LIKE SYNDROME; 608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY; 608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF; 608830 RETINOL DEHYDROGENASE 12; RDH12; 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 608893 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19;; 608911 CHOANAL ATRESIA, POSTERIOR; PCA; 608913 ACTIN, BETA-LIKE, 1; ACTBL1; Clinical Synopsis for 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2; Clinical Synopsis for 214800 CHARGE SYNDROME; Clinical Synopsis for 234500 HARTNUP DISORDER; Clinical Synopsis for 243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; Clinical Synopsis for 256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA; Clinical Synopsis for 256810 NAVAJO NEUROHEPATOPATHY; NN; Clinical Synopsis for 608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY; Clinical Synopsis for 608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5

September 10, 2004
New Entries:: 608896 SARCOGLYCAN, GAMMA; SGCG; 608908 MYOPIA 6; 608909 ADP-RIBOSYLATION FACTOR-LIKE 8; ARL8; 608910 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 4; CTAGE4
Changed Entries:: 138900 GOUT SUSCEPTIBILITY 1; 143100 HUNTINGTON DISEASE; HD; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 191510 GENE UPSTREAM OF NRAS; 240100 REMOVED FROM DATABASE; 252150 MOLYBDENUM COFACTOR DEFICIENCY; 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C; 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS; 311850 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600538 PEROXIREDOXIN 2; PRDX2; 600900 SARCOGLYCAN, BETA; SGCB; 601144 BRUGADA SYNDROME; 601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F; 601324 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; HNRPD; 601411 SARCOGLYCAN, DELTA; SGCD; 601599 SARCOSPAN; SSPN; 602132 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 5; CTAGE5; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604149 SARCOGLYCAN, EPSILON; SGCE; 604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E; 604641 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 1; MAPK8IP1; 604679 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 1; PABPC1; 605184 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 1; 607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I; 607358 AUTOIMMUNE REGULATOR; AIRE; 607640 SCA7 GENE; SCA7; 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D; 608113 SARCOGLYCAN, ZETA; SGCZ; 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1; 608468 CARBON CATABOLITE REPRESSION 4-LIKE; CCRN4L; 608474 MYOPIA 5; 608548 HEMICENTIN; 608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5

September 9, 2004
New Entries:: 608901 GOUT SUSCEPTIBILITY 1; 608903 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1; 608904 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2; 608905 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3; 608906 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4; 608907 ALZHEIMER DISEASE 9
Changed Entries:: 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE; 113705 BREAST CANCER 1 GENE; BRCA1; 125660 DESMIN; DES; 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A; 126451 DOPAMINE RECEPTOR D3; DRD3; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 138900 GOUT; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 160500 MYOPATHY, DISTAL 1; MPD1; 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 167050 OXYTOCIN; OXT; 176635 PRIMASE POLYPEPTIDE 1; PRIM1; 176636 PRIMASE POLYPEPTIDE 2A; PRIM2A; 193700 FREEMAN-SHELDON SYNDROME; FSS; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 300297 APELIN; APLN; 306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD; 600052 ANGIOTENSIN RECEPTOR-LIKE 1; AGTRL1; 600224 SPINOCEREBELLAR ATAXIA 5; SCA5; 600505 CASEIN KINASE I, ALPHA-1; CSNK1A1; 600716 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8; PTPN8; 600741 MOVED TO 176636; 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D; 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12; 602485 HYPERINSULINISM, AUTOSOMAL DOMINANT; 602663 PROLACTIN-RELEASING HORMONE; PRLH; 602848 BROMODOMAIN-CONTAINING PROTEIN 8; BRD8; 604589 BROMODOMAIN-CONTAINING PROTEIN 1; BRD1; 605254 NICASTRIN; 605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; 605565 RESISTIN; RETN; 606471 NUCLEOLAR PROTEIN FAMILY A, MEMBER 3; NOLA3; 606857 GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC; 607264 EPSIN 3; EPN3; 607849 RETINOL DEHYDROGENASE 11; RDH11; 608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4; 608904 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2; 608907 ALZHEIMER DISEASE 9; Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2

September 8, 2004
New Entries:: 608899 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 2, ALPHA; 608900 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 2, BETA
Changed Entries:: 104210 ALPHA-2A-ADRENERGIC RECEPTOR; ADRA2A; 104750 SERUM AMYLOID A1; SAA1; 107650 APNEA, OBSTRUCTIVE SLEEP; 107930 DOPA DECARBOXYLASE; DDC; 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 120360 MATRIX METALLOPROTEINASE 2; MMP2; 120361 MATRIX METALLOPROTEINASE 9; MMP9; 160900 DYSTROPHIA MYOTONICA 1; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 185250 MATRIX METALLOPROTEINASE 3; MMP3; 192968 INTEGRIN, ALPHA-1; ITGA1; 207600 TAKAYASU ARTERITIS; 257300 NONDISJUNCTION; 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS; 300297 APELIN; APLN; 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL; 601928 KERATIN, HAIR, BASIC, 6; KRTHB6; 602623 FK506-BINDING PROTEIN 5; FKBP5; 603174 HOMOCYSTEINEMIA; 603287 PYRIDOXINE-5-PRIME-PHOSPHATE OXIDASE; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 604490 SACSIN; SACS; 604743 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 1; DDAH1; 605712 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1; 606245 JJAZ1 GENE; 606702 PKHD1 GENE; PKHD1; 607764 3-@BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE; HSD3B7; 607918 SELENOPROTEIN S; 608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; 608537 VHL GENE; VHL; 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY; Clinical Synopsis for 158600 SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT; Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2; Clinical Synopsis for 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3; Clinical Synopsis for 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C; Clinical Synopsis for 256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

September 7, 2004
New Entries:: 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
Changed Entries:: 104300 ALZHEIMER DISEASE; AD; 107325 ANTISENSE ERCC1; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 134797 FIBRILLIN 1; FBN1; 142385 HEPATIC LEUKEMIA FACTOR; HLF; 150340 LAMIN B1; LMNB1; 151623 LI-FRAUMENI SYNDROME; LFS; 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS;; 166200 OSTEOGENESIS IMPERFECTA, TYPE I; 174763 POLYMERASE, DNA, GAMMA; POLG; 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; 184850 STIFF-MAN SYNDROME; 191100 TUBEROUS SCLEROSIS; TS; 191160 TUMOR NECROSIS FACTOR; TNF; 192020 UTEROGLOBIN; UGB; 236670 WALKER-WARBURG SYNDROME; 248310 MALARIA, INTENSITY OF INFECTION IN; 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1; 267700 RETICULOSIS, FAMILIAL HISTIOCYTIC; 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI; 300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT; 300297 APELIN; APLN; 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL; 516060 ATP SYNTHASE 6; MTATP6; 601064 ZINC FINGER PROTEIN 36, C3H TYPE-LIKE 1; ZFP36L1; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601253 CAVEOLIN 3; CAV3; 601364 CADHERIN 13; CDH13; 601653 EYES ABSENT 1; EYA1; 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12; 602871 PERIPLAKIN; PPL; 603022 E4F TRANSCRIPTION FACTOR 1; E4F1; 603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 605302 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 2; TACC2; 605441 ADIPOCYTE, C1Q, AND COLLAGEN DOMAIN CONTAINING; ACDC; 606039 CHEMOKINE RECEPTOR HM74; 606047 IMMUNOGLOBULIN-LIKE TRANSCRIPT 11; 606159 BASAL GANGLIA DISEASE, ADULT-ONSET; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1; 607426 COENZYME Q10 DEFICIENCY; Mini-MIM for 104300 ALZHEIMER DISEASE; AD

September 3, 2004
New Entries:: 608897 UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D; 608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; HPLH3
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 106410 ANKYRIN 2; ANK2; 176880 PROTEIN S, ALPHA; PROS1; 183250 REMOVED FROM DATABASE; 188380 THYMOPOIETIN; TMPO; 217080 CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA; 251170 MEVALONATE KINASE; MVK; 260920 HYPER-IgD SYNDROME; HIDS; 300053 SYNAPTOBREVIN-LIKE 1; SYBL1; 300056 HOLOCYTOCHROME C SYNTHASE; HCCS; 309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS; 600185 BREAST CANCER 2 GENE; BRCA2; 600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3; 600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5; 600919 SICK SINUS SYNDROME WITH BRADYCARDIA; 601411 SARCOGLYCAN, DELTA; SGCD; 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2; 602671 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1; 603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3; 604375 HUMAN GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HGS; 604433 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3;; 604610 RECQ PROTEIN-LIKE 3; RECQL3; 604714 TESTIS-SPECIFIC PROTEIN-LIKE 1, Y-ENCODED; TSPYL1; 605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1; 605836 UNC13, C. ELEGANS, HOMOLOG OF, B; UNC13B; 606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31; 607379 NEUROFIBROMIN 2; NF2; 607464 THYROID CARCINOMA, HURTHLE CELL; 608567 SICK SINUS SYNDROME, AUTOSOMAL RECESSIVE, 1; SSS1; 608637 SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE; 608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT; 608829 SMALL UBIQUITIN-LIKE MODIFIER 4; SUMO4; 608830 RETINOL DEHYDROGENASE 12; RDH12; Clinical Synopsis for 256000 LEIGH SYNDROME; LS

September 2, 2004
New Entries:: 608893 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19;; 608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3; Clinical Synopsis for 608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
Changed Entries:: 123829 CYCLIN-DEPENDENT KINASE 4; CDK4; 123833 CYCLIN D2; CCND2; 123834 CYCLIN D3; CCND3; 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4; 130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 168461 CYCLIN D1; CCND1; 173870 ADP-RIBOSYLTRANSFERASE; ADPRT; 176640 PRION PROTEIN; PRNP; 180860 SILVER-RUSSELL SYNDROME; SRS; 192968 INTEGRIN, ALPHA-1; ITGA1; 220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; 227400 FACTOR V DEFICIENCY; 249700 LANGER MESOMELIC DYSPLASIA; 256000 LEIGH SYNDROME; LS; 312865 SHORT STATURE HOMEOBOX; SHOX; 600185 BREAST CANCER 2 GENE; BRCA2; 601255 AXONAL TRANSPORTER OF SYNAPTIC VESICLES; ATSV; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 601610 BUTYROPHILIN, SUBFAMILY 1, MEMBER A; BTN1A1; 602842 GEMININ; GMNN; 602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603368 CYCLIN-DEPENDENT KINASE 6; CDK6; 603646 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15; COX15; 603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11; 604479 SIRTUIN 1; SIRT1; 604580 FIBULIN 5; FBLN5; 605064 KINESIN-LIKE 5; KNSL5; 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA; 605476 CENTAURIN, GAMMA-1; CENTG1; 605525 DOUBLE PARKED, DROSOPHILA, HOMOLOG OF; 606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1; 608041 ANTHRAX TOXIN RECEPTOR 2; ANTXR2; 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; Clinical Synopsis for 158600 SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT; Clinical Synopsis for 182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT; Clinical Synopsis for 220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; Clinical Synopsis for 256000 LEIGH SYNDROME; LS

September 1, 2004
New Entries:: 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7; 608894 ABELSON HELPER INTEGRATION SITE 1; AHI1
Changed Entries:: 119600 CLEIDOCRANIAL DYSPLASIA; CCD; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 122700 COUMARIN RESISTANCE; 132700 CYLINDROMATOSIS, FAMILIAL; CYLD; 134797 FIBRILLIN 1; FBN1; 136533 FORKHEAD BOX O1A; FOXO1A; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A;; 147684 REMOVED FROM DATABASE; 158320 MUIR-TORRE SYNDROME; MTS; 160745 MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE; MYH11; 164980 FIBROBLAST GROWTH FACTOR 4; FGF4; 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE; 600103 SYNAPTOTAGMIN 4; SYT4; 600150 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY; 600473 PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA; 600725 SONIC HEDGEHOG; SHH; 600807 ASTHMA SUSCEPTIBILITY; 600999 MYC-ASSOCIATED ZINC FINGER PROTEIN; MAZ; 601467 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1; 601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6; 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;; 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; MADH7; 603054 GREMLIN 1 HOMOLOG, CYSTEINE KNOT SUPERFAMILY; GREM1; 603759 LIM HOMEOBOX GENE 2; LHX2; 604479 SIRTUIN 1; SIRT1; 605672 CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM; 606073 NADPH-DEPENDENT DIFLAVIN OXIDOREDUCTASE 1; NDOR1; 606416 CIAS1 GENE; CIAS1; 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP; 606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8;; 608103 ALG8, S. CEREVISIAE, HOMOLOG OF; 608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; 608867 DUAL-SPECIFICITY PHOSPHATASE 10; DUSP10; 608887 PURINE-RICH ELEMENT-BINDING PROTEIN B; PURB; 608894 ABELSON HELPER INTEGRATION SITE 1; AHI1; Clinical Synopsis for 184850 STIFF-MAN SYNDROME

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OMIM Update List for September, 2004

September 29, 2004

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September 27, 2004

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September 22, 2004

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September 22, 2004

September 16, 2004

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