SP UniProt (Swiss-Prot/TrEMBL) HbVar LSDB A Database of Human Hemoglobin Variants and Thalassemias CFMDB LSDB Cystic Fibrosis Mutation Database PAHdb LSDB Phenylalanine Hydroxylase Locus Knowledgebase BGMUT LSDB Blood Group Antigen Gene Mutation Database ARdb LSDB Androgen Receptor Gene Mutations Database Reichardt LSDB Data from Prof. Juergen Reichardt RettBASE LSDB IRSA MECP2 Variation Databas LOVD LSDB Leiden Muscular Dystrophy pages dbPEX LSDB PEX Gene Database ADAbase LSDB Adenosine deaminase deficiency (ADA) AICDAbase LSDB Non-X-linked hyper-IgM syndrome AIREbase LSDB Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) AP3B1base LSDB Hermansky-Pudlak syndrome 2 BLMbase LSDB Bloom syndrome BLNKbase LSDB BLNK deficiency BTKbase LSDB X-linked agammaglobulinemia (XLA) C1QAbase LSDB C1qA deficiency C1QBbase LSDB C1qB deficiency C1QGbase LSDB C1qG deficiency C1Sbase LSDB C1s deficiency C2base LSDB C2 deficiency C3base LSDB C3 deficiency C5base LSDB C5 deficiency C6base LSDB C6 deficiency C7base LSDB C7 deficiency C8Bbase LSDB C8B deficiency C9base LSDB C9 deficiency CASP10base LSDB Autoimmune lymphoproliferative syndrome, type II CASP8base LSDB Caspase 8 deficiency CD19base LSDB CD19 deficiency CD247base LSDB CD3zeta deficiency CD3Dbase LSDB CD3delta deficiency CD3Ebase LSDB CD3epsilon deficiency CD3Gbase LSDB CD3gamma deficiency CD40base LSDB CD40 deficiency (previously known as TNFRSF5base) CD40Lbase LSDB X-linked Hyper-IgM syndrome (XHIM) CD55base LSDB Decay-accelerating factor (CD55) deficiency (previously known as DAFbase) CD59base LSDB CD59 deficiency CD79Abase LSDB Igalpha deficiency CD8Abase LSDB CD8alpha deficiency CEBPEbase LSDB Neutrophil-specific granule deficiency CFDbase LSDB Factor D deficiency (previously known as DFbase) CFHbase LSDB Factor H deficiency (previously known as HF1base) CFIbase LSDB Complement factor I deficiency (previously known as IFbase) CIITAbase LSDB MHCII transactivating protein deficiency (previously known as MHC2TAbase) CTSCbase LSDB Papillon-Lefevre syndrome CXCR4base LSDB WHIM syndrome CYBAbase LSDB Autosomal recessive p22phox deficiency CYBBbase LSDB X-linked chronic granulomatous disease (XCGD) DCLRE1Cbase LSDB Artemis deficiency DKC1base LSDB Hoyeraal-Hreidarsson syndrome DNMT3Bbase LSDB ICF syndrome ELA2base LSDB Cyclic neutropenia; Congenital neutropenia F12base LSDB Hereditary angioedema type III FASLGbase LSDB Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base) FCGR1Abase LSDB CD64 deficiency FCGR3Abase LSDB Natural killer cell deficiency FOXN1base LSDB T-cell immunodeficiency, congenital alopecia, and nail dystrophy (previously known as WHNbase) FOXP3base LSDB Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX GFI1base LSDB Severe congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) HAX1base LSDB Severe congenital neutropenia (Kostmann disease) ICOSbase LSDB ICOS deficiency IFNGR1base LSDB IFNgamma1-receptor deficiency IFNGR2base LSDB IFNgamma2-receptor deficiency IGHG2base LSDB IgG2 deficiency IGHMbase LSDB Mu heavy chain deficiency IGLL1base LSDB lambda5surrogate light-chain deficiency IKBKGbase LSDB Nemo deficiency IL12Bbase LSDB Interleukin-12 (IL12) p40 deficiency IL12RB1base LSDB Interleukin-12 receptor beta1 deficiency IL2RAbase LSDB Interleukin-2 receptor alpha deficiency IL7Rbase LSDB Interleukin-7 receptor alpha deficiency IRAK4base LSDB IRAK4 deficiency ITGB2base LSDB Leukocyte adhesion deficiency I (LAD-I) JAK3base LSDB Jak3 deficiency LIG1base LSDB DNA ligase I deficiency LIG4base LSDB LIG4 syndrome LRRC8Abase LSDB Non-Bruton type autosomal dominant agammaglobulinemia LYSTbase LSDB Chediak-Higashi syndrome (previously known as CHS1base) MASP2base LSDB MASP2 deficiency MLPHbase LSDB Griscelli syndrome, type 3 (GS3) MPObase LSDB Myeloperoxidase deficiency MRE11Abase LSDB Ataxia-telangiectasia-like disorder (ATLD) MYO5Abase LSDB Griscelli syndrome, type 1 (GS1) NCF1base LSDB Autosomal recessive p47phox deficiency NCF2base LSDB Autosomal recessive p67phox deficiency NFKBIAbase LSDB Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency NHEJ1base LSDB Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR NPbase LSDB PNP deficiency PFCbase LSDB Properdin deficiency PRF1base LSDB Familial haemophagocytic lymphohistiocytosis, type II (FHL2) PTPRCbase LSDB CD45 deficiency RAB27Abase LSDB Griscelli syndrome, type 2 (GS2) RAC2base LSDB Neutrophil immunodeficiency syndrome RAG1base LSDB RAG1 deficiency RAG2base LSDB RAG2 deficiency RFX5base LSDB MHCII promoter X box regulatory factor 5 deficiency RFXANKbase LSDB Ankyrin repeat containing regulatory factor X-associated protein deficiency RFXAPbase LSDB Regulatory factor X-associated protein deficiency SBDSbase LSDB Shwachman-Diamond syndrome SERPING1base LSDB Hereditary angioedema SH2D1Abase LSDB X-linked lymphoproliferative syndrome (XLP) SLC35C1base LSDB Leukocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base) SMARCAL1base LSDB Schimke immuno-osseous dysplasia SP110base LSDB Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI) SPINK5base LSDB Netherton syndrome STAT1base LSDB STAT1 deficiency STAT5Bbase LSDB Growth hormone insensitivity with immunodeficiency STX11base LSDB Familial haemophagocytic lymphohistiocytosis 4 TAP1base LSDB TAP1 deficiency TAP2base LSDB TAP2 deficiency TAPBPbase LSDB Tapasin deficiency TAZbase LSDB Barth syndrome TCIRG1base LSDB Autosomal recessive osteopetrosis (arOP) TCN2base LSDB Transcobalamin II deficiency TMC6base LSDB Epidermodysplasia verruciformis (previously known as EVER1base) TMC8base LSDB Epidermodysplasia verruciformis (previously known as EVER2base) TMEM142Abase LSDB Severe combined immunodeficiency TNFRSF13Bbase LSDB TACI deficiency TYK2base LSDB TYK2 deficiency UNC13Dbase LSDB Familial hemophagocytic lymphohistiocytosis 3 UNGbase LSDB UNG deficiency WASbase LSDB Wiskott-Aldrich syndrome (WAS) ZAP70base LSDB ZAP70 deficiency FHCDB LSDB Familial Hypertrophic Cardiomyopathy Mutation Database LQTSdb LSDB The Long QT Syndrome Database RISN LSDB Retina International Scientific Newsletter Mutation Database X-ALD LSDB X-linked Adrenoleukodystrophy Database IARC TP53 LSDB IARC TP53 Mutation Database VWF LSDB ISTH SSC VWF Database CD79Bbase LSDB IGbeta deficiency MAPBPIPbase LSDB Endosomal adaptor protein p14 deficiency KinMutBase LSDB KinMutBase OSTM1base LSDB OSTM1base: Autosomal recessive osteopetrosis CLCN7base LSDB CLCN7base: Autosomal dominant osteopetrosis, type 2 CA2base LSDB CA2base: Osteopetrosis with renal tubular acidosis IPNMDB LSDB Mutation Database of Inherited Peripheral Neuropathies NRASbase LSDB Autoimmune lymphoproliferative syndrome type IV HIFD LSDB Human Intermediate Filament Database ADM LSDB Alzheimer Disease & Frontotemporal Dementia Mutation Database UNC93B1base LSDB UNC93B deficiency (Herpes simplex encephalitis) BIRC4base LSDB X-linked lymphoproliferative syndrome C1QCbase LSDB C1qC-polypeptide deficiency CFPbase LSDB Properdin deficiency RASGRP2base LSDB Leukocyte adhesion deficiency III STAT3base LSDB Hyper-IgE syndrome TLR3base LSDB Influenza-associated encephalopathy ALPL LSDB ALPL Gene Mutations Database CASRdb LSDB Calcium Sensing Receptor Database CBS LSDB CBS Mutation Database MMR LSDB Mismatch Repair Genes Variant Database RPGR LSDB RPGR Database dbRIP LSDB A database of retrotransposon insertion polymorphisms in humans Fanconi LSDB Fanconi Anemia Mutation Database GlobinLOVD LSDB LOVD: The Globin Gene Server ORAI1base LSDB Severe combined immunodeficiency