ICAM4 |
intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) |
111250 |
Blood Group Antigen Mutation Database |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
ICOS |
inducible T-cell co-stimulator |
604558 |
ICOSbase: Mutation registry for ICOS deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IDS |
iduronate 2-sulfatase |
309900 |
IDS database at LOVD |
Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IDUA |
iduronidase, alpha-L- |
252800 |
Mendelian genes (IDUA) |
Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IFITM5 |
interferon induced transmembrane protein 5 |
614757 |
Osteogenesis Imperfecta Variant Database (IFITM5) |
Raymond Dalgleish |
IFNGR1 |
interferon gamma receptor 1 |
107470 |
IFNGR1base: Mutation registry for IFNγ1-receptor deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IFNGR1 |
interferon gamma receptor 1 |
107470 |
Mendelian genes (IFNGR1) |
Esther van de Vosse Leiden Univ. Med Centre |
IFNGR2 |
interferon gamma receptor 2 (interferon gamma transducer 1) |
147569 |
IFNGR2base: Mutation registry for IFNγ2-receptor deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IFNGR2 |
interferon gamma receptor 2 (interferon gamma transducer 1) |
147569 |
Mendelian genes (IFNGR2) |
Esther van de Vosse |
IFT122 |
intraflagellar transport 122 homolog (Chlamydomonas) |
606045 |
Mendelian genes (IFT122) |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IGBP1 |
immunoglobulin (CD79A) binding protein 1 |
300139 |
IGBP1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IGF1 |
insulin-like growth factor 1 (somatomedin C) |
147440 |
LOVD growth |
Jan Maarten Wit and Marie-Jose Walenkamp |
IGF1R |
insulin-like growth factor 1 receptor |
147370 |
LOVD growth |
Roland Pfaeffle and Wieland Kiess |
IGF2 |
insulin-like growth factor 2 (somatomedin A) |
147470 |
LOVD growth |
Irene Netchine and Yves le Bouc |
IGFALS |
insulin-like growth factor binding protein, acid labile subunit |
601489 |
IGFALS database at LOVD |
H Jasper and HM Domené |
IGHC |
Immunoglobulin heavy constant group |
\N |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGHD |
immunoglobulin heavy constant delta |
147170 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGHG2 |
immunoglobulin heavy constant gamma 2 (G2m marker) |
147110 |
IGHG2base: Mutation registry for IgG2 deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IGHJ2 |
immunoglobulin heavy joining 2 |
147010 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGHM |
immunoglobulin heavy constant mu |
147020 |
IGHMbase: Mutation registry for µ heavy-chain deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IGHMBP2 |
immunoglobulin mu binding protein 2 |
600502 |
LOVD 3.0 shared installation (IGHMBP2) |
LOVD-team, but with Curator vacancy |
IGHMBP2 |
immunoglobulin mu binding protein 2 |
600502 |
Inherited Peripheral Neuropathies Mutation Database |
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
IGHMBP2 |
immunoglobulin mu binding protein 2 |
600502 |
Leiden Muscular Dystrophy pages (IGHMBP2) |
Jorge Oliveira |
IGHV@ |
immunoglobulin heavy variable group |
147070 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGKC |
immunoglobulin kappa constant |
147200 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGKJ@ |
immunoglobulin kappa joining group |
146970 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGKV@ |
immunoglobulin kappa variable group |
146980 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGLC1 |
immunoglobulin lambda constant 1 (Mcg marker) |
147220 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGLJ@ |
immunoglobulin lambda joining group |
147230 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGLL1 |
immunoglobulin lambda-like polypeptide 1 |
146770 |
IGLL1base: Mutation registry for λ 5 surrogate light-chain deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IGLV@ |
immunoglobulin lambda variable group |
147240 |
IMGT; the international ImMunoGeneTics information system ® |
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
IGSF1 |
immunoglobulin superfamily, member 1 |
300137 |
IGSF1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IKBKAP |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
603722 |
Inherited Peripheral Neuropathies Mutation Database |
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
IKBKAP |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
603722 |
LOVD 3.0 shared installation (IKBKAP) |
LOVD-team, but with Curator vacancy |
IKBKAP |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex- |
603722 |
Leiden Muscular Dystrophy pages (IKBKAP) |
Johan den Dunnen |
IKBKG |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
300248 |
Mendelian genes IKBKG) |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IKBKG |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
300248 |
IKBKGbase: Mutation registry for Nemo deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IL12B |
interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) |
161561 |
IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IL12B |
interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) |
161561 |
Mendelian genes (IL12B) |
Esther van de Vosse |
IL12RB1 |
interleukin 12 receptor, beta 1 |
601604 |
IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IL12RB1 |
interleukin 12 receptor, beta 1 |
601604 |
Mendelian genes (IL12RB1) |
Esther van de Vosse |
IL13RA1 |
interleukin 13 receptor, alpha 1 |
300119 |
IL13RA1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IL13RA2 |
interleukin 13 receptor, alpha 2 |
300130 |
IL13RA2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IL1RAPL1 |
interleukin 1 receptor accessory protein-like 1 |
300206 |
IL1RAPL1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IL1RAPL1 |
interleukin 1 receptor accessory protein-like 1 |
300206 |
LOVD 3.0 shared installation (IL1RAPL1) |
LOVD-team, but with Curator vacancy |
IL1RAPL2 |
interleukin 1 receptor accessory protein-like 2 |
300277 |
IL1RAPL2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IL2RA |
interleukin 2 receptor, alpha |
147730 |
IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IL2RG |
interleukin 2 receptor, gamma |
308380 |
X-Linked Severe Combined Immuno deficiency SCID |
Jeniffer Puck, Joie Davies, Roxanne Fisher, Amy Pepper, NHGRI/NIH, Bethesda |
IL2RG |
interleukin 2 receptor, gamma |
308380 |
CCHMC Molecular Genetics Laboratory Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
IL2RG |
interleukin 2 receptor, gamma |
308380 |
X-chromosome gene database |
LOVD-team, but with Curator vacancy |
IL2RG |
interleukin 2 receptor, gamma |
308380 |
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
Ammar Husami |
IL7R |
interleukin 7 receptor |
146661 |
IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IL9R |
interleukin 9 receptor |
300007 |
IL9R database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IMPDH1 |
IMP (inosine monophosphate) dehydrogenase 1 |
146690 |
Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene |
Retina International |
IMPDH1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
146690 |
Eye diseases - LOVD |
LOVD-team, but with Curator vacancy |
IMPG2 |
interphotoreceptor matrix proteoglycan 2 |
607056 |
Eye diseases - LOVD |
Jacopo Celli |
INE1 |
inactivation escape 1 (non-protein coding) |
300164 |
INE1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
INVS |
inversin |
243305 |
LOVD 3.0 database (INVS) |
LOVD-team, but with Curator vacancy |
IQCB1 |
IQ motif containing B1 |
609237 |
Leiden Open Variation Database (IQCB1) |
LOVD-Team , but with Curator vacancy |
IQSEC2 |
IQ motif and Sec7 domain 2 |
300522 |
IQSEC2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IRAK1 |
interleukin-1 receptor-associated kinase 1 |
300283 |
IRAK1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IRAK4 |
interleukin-1 receptor-associated kinase 4 |
606883 |
IRAK4base: Mutation registry for IRAK4 deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
IRGM |
immunity-related GTPase family, M |
608212 |
Mendelian genes (IRGM) |
LOVD-Team , but with Curator vacancy |
IRS4 |
insulin receptor substrate 4 |
603510 |
IRS4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IRX5 |
iroquois homeobox 5 |
606195 |
LOVD - Leiden Open Variation Database (IRX5) |
LOVD-Team , but with Curator vacancy |
ISCU |
iron-sulfur cluster scaffold homolog (E. coli) |
611911 |
Leiden Muscular Dystrophy pages |
Johan T den Dunnen Leiden Univ. Med Centre |
ISPD |
isoprenoid synthase domain containing |
614631 |
Leiden Muscular Dystrophy pages (ISPD) |
Johan T den Dunnen Leiden Univ. Med Centre |
ITGA2B |
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) |
607759 |
Glanzmann Thrombasthenia Database (GPIIb) |
Dr. David Wilcox, Mount Sinai School of Medicine, U.S.A. |
ITGA7 |
integrin, alpha 7 |
600536 |
Leiden Muscular Dystrophy pages |
Johan T den Dunnen Leiden Univ. Med Centre |
ITGB2 |
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) |
600065 |
ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I) |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
ITGB2 |
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) |
600065 |
Mendelian genes (ITGB2) |
LOVD-Team , but with Curator vacancy |
ITGB3 |
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) |
173470 |
Glanzmann Thrombasthenia Database (GPIIIa) |
Dr. David Wilcox, Mount Sinai School of Medicine, U.S.A. |
ITIH6 |
inter-alpha-trypsin inhibitor heavy chain family, member 6 |
\N |
ITIH6 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ITM2A |
integral membrane protein 2A |
300222 |
X-chromosome gene database (ITM2A) |
LOVD-Team , but with Curator vacancy |
ITM2A |
integral membrane protein 2A |
300222 |
ITM2A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
IVD |
isovaleryl-CoA dehydrogenase |
607036 |
LOVD 3.0 shared installation (IVD) |
Ivo F.A.C. Fokkema, Leiden Univ. Med Centre |