F12 |
coagulation factor XII (Hageman factor) |
610619 |
F12base: Mutation registry for Hereditary angioedema type III |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
F8 |
coagulation factor VIII, procoagulant component |
306700 |
F8 database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
F8 |
coagulation factor VIII, procoagulant component |
306700 |
F8 Mutation Registry at Hemobase |
Francisco Vidal, Lorena Ramirez |
F8 |
coagulation factor VIII, procoagulant component |
306700 |
The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS) |
Dr Geoffrey Kemball-Cook |
F9 |
coagulation factor IX |
300746 |
Haemophilia B Mutation Database |
P.M Green, F. Giannelli, Division of Genetics & Development, 7th Floor Guys Tower, GKT School of Medicine, Guy's Hospital London SE1 9RT Unitd Kingdom and consortium |
F9 |
coagulation factor IX |
300746 |
F9 database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
F9 |
coagulation factor IX |
300746 |
F9 Mutation Registry at Hemobase |
Francisco Vidal, Lorena Ramirez |
FAAH2 |
fatty acid amide hydrolase 2 |
300654 |
FAAH2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM120C |
family with sequence similarity 120C |
300741 |
FAM120C database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM122B |
family with sequence similarity 122B |
\N |
FAM122B database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM122C |
family with sequence similarity 122C |
\N |
FAM122C database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM123B |
family with sequence similarity 123B |
300647 |
FAM123B database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM133A |
family with sequence similarity 133, member A |
\N |
FAM133A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM155B |
family with sequence similarity 155, member B |
\N |
FAM155B database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM3A |
family with sequence similarity 3, member A |
300492 |
FAM3A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM45B |
family with sequence similarity 45, member B |
\N |
FAM45B database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM46D |
family with sequence similarity 46, member D |
\N |
FAM46D database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM47A |
family with sequence similarity 47, member A |
\N |
FAM47A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM47B |
family with sequence similarity 47, member B |
\N |
FAM47B database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM47C |
family with sequence similarity 47, member C |
\N |
FAM47C database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM50A |
family with sequence similarity 50, member A |
300453 |
FAM50A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM9A |
family with sequence similarity 9, member A |
300477 |
FAM9A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FAM9C |
family with sequence similarity 9, member C |
300479 |
FAM9C database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FANCA |
Fanconi anemia, complementation group A |
607139 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
FANCB |
Fanconi anemia, complementation group B |
300515 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
FANCC |
Fanconi anemia, complementation group C |
227645 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
FANCD2 |
Fanconi anemia, complementation group D2 |
227646 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
FANCE |
Fanconi anemia, complementation group E |
600901 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
FANCF |
Fanconi anemia, complementation group F |
603467 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
FANCG |
Fanconi anemia, complementation group G |
602956 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
FANCI |
Fanconi anemia, complementation group I |
611360 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
FANCL |
Fanconi anemia, complementation group L |
608111 |
Fanconi Anaemia Mutation Database |
Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
FANCM |
Fanconi anemia, complementation group M |
609644 |
Fanconi Anaemia Mutation Database |
Arleen Auerbach, Rockefeller University, New York, USA |
FAS |
Fas (TNF receptor superfamily, member 6) |
134637 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
FAS |
Fas (TNF receptor superfamily, member 6) |
134637 |
Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS |
Jennifer Puck, Stephen Straus, Michael Lenardo, Janet Dale, Joie Davis, Lilia Lei Bi, Jin Wang, NIAID & NHGRI, NIH, U.S.A. |
FASLG |
Fas ligand (TNF superfamily, member 6) |
134638 |
FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base) |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
FASLG |
Fas ligand (TNF superfamily, member 6) |
134638 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
FATE1 |
fetal and adult testis expressed 1 |
300450 |
FATE1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FBN1 |
fibrillin 1 |
134797 |
The UMD FBN1 mutations database |
Gwenaelle Collod-Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France |
FBN2 |
fibrillin 2 |
612570 |
The UMD FBN2 mutations database |
G. Collod-Béroud |
FCGR1A |
Fc fragment of IgG, high affinity Ia, receptor (CD64) |
146760 |
FCGR1Abase: Mutation registry for CD64 deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
FCGR3A |
Fc fragment of IgG, low affinity IIIa, receptor (CD16a) |
146740 |
FCGR3Abase: Mutation registry for Natural killer cell deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
FGA |
fibrinogen alpha chain |
134820 |
A Database For Human Fibrinogen Variants |
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
FGB |
fibrinogen beta chain |
134830 |
A Database For Human Fibrinogen Variants |
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
300546 |
FGD1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FGG |
fibrinogen gamma chain |
134850 |
A Database For Human Fibrinogen Variants |
Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
FH |
fumarate hydratase |
136850 |
TCA Cycle Gene Mutation Database -FH |
Jean-Pierre Bayley, LUMC, Leiden |
FHL1 |
four and a half LIM domains 1 |
300163 |
Leiden Muscular Dystrophy Pages |
Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
FIGF |
c-fos induced growth factor (vascular endothelial growth factor D) |
300091 |
FIGF database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FKBP10 |
FK506 binding protein 10, 65 kDa |
607063 |
Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants |
Raymond Dalgleish, Leicester, UK. |
FKRP |
fukutin related protein |
606596 |
Leiden Muscular Dystrophy Pages |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands & Rosário dos Santos, Centro de Genética Médica J., Magalhães, INSA, Portugal |
FKTN |
fukutin |
607440 |
FCMD - Fukuyama type congenital muscular dystrophy |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands & Rosário dos Santos, Centro de Genética Médica J., Magalhães, INSA, Portugal |
FLCN |
folliculin |
607273 |
Folliculin (FLCN) variation database |
Dr. Derek Lim, Prof. Eamonn Maher, European Birt-Hogg-Dube Consortium, University of Birmingham School of Medicine, UK |
FLCN |
folliculin |
607273 |
The Folliculin Mutation Database |
Database Administration |
FLNA |
filamin A, alpha |
300017 |
Filamin A, alpha (FLNA) Mental Retardation Database |
Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands |
FLNC |
filamin C, gamma |
102565 |
Leiden Muscular Dystrophy pages |
Johan T den Dunnen Leiden Univ. Med Centre |
FLT1 |
fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) |
165070 |
Fms-related tyrosine kinase 1 (FLT1) database |
Belinda Giardine and Joseph Borg |
FMO3 |
flavin containing monooxygenase 3 |
136132 |
The Homo sapients FMO3 Allelic Variant Database |
Elizabeth A. Shephard, Sarah Addou, Dept. Biochem. & Molecular Biol. Univ. College London. UK; Ian R. Phillips Sch. Bio. Sc. Queen Mary, Univ. of London , UK |
FMR1 |
fragile X mental retardation 1 |
309550 |
FMR1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FMR1NB |
fragile X mental retardation 1 neighbor |
\N |
FMR1NB database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FOXL2 |
forkhead box L2 |
605597 |
The Human FOXL2 Allelic Variant Database |
Diane Beysen, Elfride de Baere, Centre for Medical Genetics, Gent, Belgium |
FOXN1 |
forkhead box N1 |
600838 |
FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase) |
Mauno Vihinen & Claudio Pignata, Univ. of Tampere, Tampere, Finland |
FOXO4 |
forkhead box O4 |
300033 |
FOXO4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FOXP3 |
forkhead box P3 |
300292 |
FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
FOXP3 |
forkhead box P3 |
300292 |
FOXP3 database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FOXP3 |
forkhead box P3 |
300292 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
FOXR2 |
forkhead box R2 |
\N |
FOXR2 database at LOVD |
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
FRMD7 |
FERM domain containing 7 |
300628 |
FRMD7 database at LOVD |
Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
FRMPD3 |
FERM and PDZ domain containing 3 |
\N |
FRMPD3 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FRMPD4 |
FERM and PDZ domain containing 4 |
\N |
FRMPD4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FSCN2 |
fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) |
607643 |
Mutations of the Fascin Gene |
Retina International |
FTHL17 |
ferritin, heavy polypeptide-like 17 |
300308 |
FTHL17 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FTSJ1 |
FtsJ homolog 1 (E. coli) |
300499 |
FTSJ1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FUNDC1 |
FUN14 domain containing 1 |
\N |
FUNDC1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
FUS |
fused in sarcoma |
137070 |
Alzheimer Disease & Frontotemporal Dementia Mutation Database |
Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
FUT1 |
fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) |
211100 |
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 |
FUT2 |
fucosyltransferase 2 (secretor status included) |
182100 |
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 |
FUT3 |
fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) |
111100 |
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 |
FUT6 |
fucosyltransferase 6 (alpha (1,3) fucosyltransferase) |
136836 |
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 |
FUT7 |
fucosyltransferase 7 (alpha (1,3) fucosyltransferase) |
602030 |
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 |