A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
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 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
IGHMBP2 immunoglobulin mu binding protein 2 600502 LOVD 3.0 shared installation (IGHMBP2) LOVD-team, but with Curator vacancy
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 IKBKGbase: Mutation registry for Nemo deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
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 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
IL2RG interleukin 2 receptor, gamma 308380 X-Linked Severe Combined Immuno deficiency SCID Jeniffer Puck, Joie Davies, Roxanne Fisher, Amy Pepper, NHGRI/NIH, Bethesda
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 ITM2A 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
IVD isovaleryl-CoA dehydrogenase 607036 LOVD 3.0 shared installation (IVD) Ivo F.A.C. Fokkema, Leiden Univ. Med Centre

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