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 - databases for immunodeficiency-causing variations
 
 
 

Variation databases for other diseases:
KinMutBase Kinase mutation database
Curated by: Mauno Vihinen and Csaba Ortutay
SH2base Database for pathogenic SH2 domain variations
Curated by: Mauno Vihinen
PIK3R1base Database for pathogenic variations in the p85α SH2 domain
Curated by: Mauno Vihinen
PTPN11base Database for pathogenic variations in the SHP-2 SH2 domain
Curated by: Mauno Vihinen
RASA1base Database for pathogenic variations in the RasGAP SH2 domain
Curated by: Mauno Vihinen
TCIRG1baseFF157 Autosomal recessive osteopetrosis (arOP)
Curated by: Mauno Vihinen FF157


Immunodeficiency variation databases maintained by others:
AP3B1
FF108 Hermansky-Pudlak syndrome 2
ATM
FF87 Ataxia-telangiectasia
CASP10
FF109 Autoimmune lymphoproliferative syndrome, type II
CFH
FF101 Haemolytic Uraemic Syndrome (HUS)
CTSC
FF154 Papillon Lefevre syndrome
FANCA
 Fanconi anemia
FANCB
 Fanconi anemia
FANCC
 Fanconi anemia
FANCD2
 Fanconi anemia
FANCE
 Fanconi anemia
FANCF
 Fanconi anemia
FANCG
 Fanconi anemia
FANCL
 Fanconi anemia
FAS
FF36 Autoimmune lymphoproliferative syndrome, type Ia
IL2RG
FF8 X-linked SCID
LPIN2
 Majeed Syndrome
LYST
FF79 Chediak-Higashi Syndrome
MEFV
FF140 Familial Mediterranean fever
MVK
FF141 Hyper IgD Syndrome and periodic fever
NLRP3
FF143 Familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous and articular syndrome
NLRP7
 Recurrent Hydatidiform moles and reproductive wastage
NOD2
FF146 Blau syndrome, Chrohn's disease, Early Onset Sarcoidosis
PSTPIP1
 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome
SERPING1
FF97 Hereditary angioedema
TAZ
FF134 Barth syndrome
TNFRSF1A
FF142 Tumor necrosis factor receptor-associated periodic syndrome
WAS
FF71 Wiskott-Aldrich syndrome