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
TAB3 TGF-beta activated kinase 1/MAP3K7 binding protein 3 300480 TAB3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 313650 TAF1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 300314 TAF7L database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 300754 TAF9B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 170260 TAP1base: Mutation registry for TAP1 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 170260 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 170261 TAP2base: Mutation registry for TAP2 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 170261 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
TAPBP TAP binding protein (tapasin) 601962 TAPBPbase: Mutation registry for Tapasin deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TARDBP TAR DNA binding protein 605078 Alzheimer Disease & Frontotemporal Dementia Mutation Database Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
TAZ tafazzin 300394 Human Tafazzin (TAZ) Gene Mutation & Variation Database Iris L. Gonzalez, Ph.D., U.S.A.
TAZ tafazzin 300394 TAZbase: Mutation registry for Barth syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TBC1D8B TBC1 domain family, member 8B (with GRAM domain) \N TBC1D8B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TBX22 T-box 22 300307 TBX22 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TBXAS1 thromboxane A synthase 1 (platelet) 274180 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
TCAP titin-cap (telethonin) 604488 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands
TCEAL2 transcription elongation factor A (SII)-like 2 \N TCEAL2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TCEAL4 transcription elongation factor A (SII)-like 4 \N TCEAL4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TCEAL5 transcription elongation factor A (SII)-like 5 \N TCEAL5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TCEAL8 transcription elongation factor A (SII)-like 8 \N TCEAL8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TCF4 transcription factor 4 602272 TCF4 database at LOVD Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands & TCF4 Curator
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 604592 TCIRG1base: Mutation registry for autosomal recessive osteopetrosis Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TCN2 transcobalamin II; macrocytic anemia 275350 TCN2base: Mutation registry for Transcobalamin II deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TCOF1 Treacher Collins-Franceschetti syndrome 1 606847 TCOF1 mutation database A. Splendore, Dept. of Genetics, B203 Beckman Center, Stanford University
TECTA tectorin alpha 602574 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
TERC telomerase RNA component 602322 The Telomerase Database Julian J-L Chen at Arizona State University
TERT telomerase reverse transcriptase 187270 The Telomerase Database Julian J-L Chen at Arizona State University
TEX11 testis expressed 11 300311 TEX11 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TEX13A testis expressed 13A 300312 TEX13A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TEX13B testis expressed 13B 300313 TEX13B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TFDP3 transcription factor Dp family, member 3 300772 TFDP3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TFE3 transcription factor binding to IGHM enhancer 3 314310 TFE3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TGFB3 transforming growth factor, beta 3 190230 ARVD/C Genes Variants Database Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
TGFB3 transforming growth factor, beta 3 190230 ARVD/C Genetic Variants Database Paul van der Zwaag
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 190182 The UMD TGFBR2 mutations database G. Collod-Béroud
TH tyrosine hydroxylase 191290 BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation
THAP1 THAP domain containing, apoptosis associated protein 1 609520 The UMD THAP1 mutations database Gwenaelle Collod-Beroud
THOC2 THO complex 2 300395 THOC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) 300249 TIMM17B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TIMP1 TIMP metallopeptidase inhibitor 1 305370 TIMP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TIMP3 TIMP metallopeptidase inhibitor 3 188826 Mutations of the Tissue Inhibitor of Metalloproteases 3 Gene Retina International
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 604319 The Telomerase Database Julian J-L Chen at Arizona State University
TLR7 toll-like receptor 7 300365 TLR7 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TLR8 toll-like receptor 8 300366 TLR8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TMC1 transmembrane channel-like 1 606706 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
TMC1 transmembrane channel-like 1 606706 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
TMC6 transmembrane channel-like 6 605828 TMC6base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER1base) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TMC8 transmembrane channel-like 8 605829 TMC8base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER2base) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TMEM114 transmembrane protein 114 611579 TMEM114 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
TMEM187 transmembrane protein 187 300059 TMEM187 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TMEM27 transmembrane protein 27 300631 TMEM27 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TMEM38B transmembrane protein 38B 611236 Osteogenesis Imperfecta Variant Database (TMEM38B) Raymond Dalgleish
TMEM43 transmembrane protein 43 612048 ARVD/C Genes Variants Database Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
TMEM43 transmembrane protein 43 612048 ARVD/C Genetic Variants Database Paul van der Zwaag
TMIE transmembrane inner ear 607237 CCHMC - Human Genetics Mutation Database Ammar Husami
TMLHE trimethyllysine hydroxylase, epsilon 300777 TMLHE database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TMPRSS3 transmembrane protease, serine 3 605511 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
TMPRSS3 transmembrane protease, serine 3 605511 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 604907 TNFRSF13Bbase: Mutation registry for TACI deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 191190 INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations Ivona Aksentijevich, ARB, NIAMS/NIH, Bethesda, USA
TNMD tenomodulin 300459 TNMD database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TNNI2 troponin I type 2 (skeletal, fast) 191043 Leiden Muscular Dystrophy Pages Tom Winder & Johan den Dunnen
TNNI3 troponin I type 3 (cardiac) 191044 FHC Mutation Database Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet.Royal Prince Alfred Hosp.Sydney, Australia
TNNI3 troponin I type 3 (cardiac) 191044 Sarcomere Protein Gene Mutation Database NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
TNNT1 troponin T type 1 (skeletal, slow) 191041 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
TNNT2 troponin T type 2 (cardiac) 191045 FHC Mutation Database Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet.Royal Prince Alfred Hosp.Sydney, Australia
TNNT2 troponin T type 2 (cardiac) 191045 Sarcomere Protein Gene Mutation Database NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
TNNT3 troponin T type 3 (skeletal, fast) 600692 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
TOX thymocyte selection-associated high mobility group box 606863 Thymocyte selection-associated high mobility group box (TOX) database Belinda Giardine and Joseph Borg
TP53 tumor protein p53 191170 p53 Mutation in Human Cancer Thierry Soussi (Karolinska Institute)
TP53 tumor protein p53 191170 Database of Germline p53 Mutations Zdenek Sedlacek & Marie Trkova, Charles Univ. Prague, Czech Republic
TP53 tumor protein p53 191170 p53 Mutation Database Analysis & Search Human Genome Centre, Tokyo, Japan
TP53 tumor protein p53 191170 The UMD TP53 mutation database Thierry Soussi (Karolinska Institute)
TP53 tumor protein p53 191170 IARC TP53 Mutation Database: Human somatic and germline TP53 mutations compiled from the literature M. Olivier, R. Eeles, M. Hollstein, C. C. Harris, P. Hainaut, IARC, Lyon, France
TP63 tumor protein p63 603273 ARVD/C Genetic Variants Database Paul van der Zwaag
TP63 tumor protein p63 603273 ARVD/C Genes Variants Database Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
TPM1 tropomyosin 1 (alpha) 191010 FHC Mutation Database Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet.Royal Prince Alfred Hosp.Sydney, Australia
TPM1 tropomyosin 1 (alpha) 191010 Sarcomere Protein Gene Mutation Database NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
TPM2 tropomyosin 2 (beta) 190990 Leiden Muscular Dystrophy Pages Tom Winder & Johan den Dunnen
TPM3 tropomyosin 3 191030 Leiden Muscular Dystrophy Pages Johan den Dunnen and Tom Winder
TPP1 tripeptidyl peptidase I 607998 Neuronal Ceroid Lipofuscinoses; NCL Mutations Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom
TRA@ T cell receptor alpha locus 186880 IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRAJ T cell receptor alpha joining region \N IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRAV T cell receptor alpha variable region \N IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRB@ T cell receptor beta locus 186930 IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRBD T cell receptor beta diversity region \N IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRBJ T cell receptor beta joining region \N IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRBV T cell receptor beta variable region \N IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRD@ T cell receptor delta locus 186810 IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRD@ T cell receptor delta locus 186810 IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRDD T cell receptor delta diversity region \N IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRDV T cell receptor delta variable region \N IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TREX1 three prime repair exonuclease 1 606609 TREX1 database at LOVD Boukje de Vries, LUMC, Leiden, Nederland
TRIM32 tripartite motif-containing 32 602290 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands
TRMT2B TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) \N TRMT2B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TRO trophinin 300132 TRO database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TRPC5 transient receptor potential cation channel, subfamily C, member 5 300334 TRPC5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TSC1 tuberous sclerosis 1 605284 TSC Mutation Database Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University
TSC2 tuberous sclerosis 2 191092 TSC2 Mutation Database Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University
TSHR thyroid stimulating hormone receptor 603372 TSH Receptor mutation database Ralf Paschke, Department of Internal Medicine III, University of Leipzig, Germany
TSPAN6 tetraspanin 6 300191 TSPAN6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TSPYL2 TSPY-like 2 300564 TSPYL2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TTN titin 188840 FHC Mutation Database Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet., Royal Prince Alfred Hosp. Sydney, Australia
TTN titin 188840 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
TTR transthyretin 176300 Database on Transthyretin Mutations Maria João Mascarenhas Saraiva, Amyloid Unit, Institute of Molecular & Cellular Biology, Porto, Portugal
TULP1 tubby like protein 1 602280 Mutations of the Tubby-like Protein 1 Gene Retina International
TXLNG taxilin gamma 300677 CXorf15 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TYK2 tyrosine kinase 2 176941 TYK2base: Mutation registry for TYK2 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TYR tyrosinase (oculocutaneous albinism IA) 606933 Albinism Database William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA
TYR tyrosinase (oculocutaneous albinism IA) 606933 Mutations of the Tyrosinase Gene Retina International
TYRP1 tyrosinase-related protein 1 115501 Mutations of the Tyrosinase-related Protein 1 Gene Retina International
TYRP1 tyrosinase-related protein 1 115501 Albinism Database William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A.

Theme by Danetsoft and Danang Probo Sayekti inspired by Maksimer