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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
IGSF1
(HGNC:5948)
central congenital hypothyroidism
(MONDO_0016410)
 Definitive
XIAP
(HGNC:592)
X-linked lymphoproliferative disease due to XIAP deficiency
(MONDO_0010385)
 Definitive
BIRC3
(HGNC:591)
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
 Strong
ABCC6
(HGNC:57)
arterial calcification of infancy
(MONDO_0018870)
 Strong
ABCC6
(HGNC:57)
autosomal recessive inherited pseudoxanthoma elasticum
(MONDO_0009925)
 Definitive
AP3B1
(HGNC:566)
Hermansky-Pudlak syndrome 2
(MONDO_0011997)
 Strong
AP3B1
(HGNC:566)
Hermansky-Pudlak syndrome
(MONDO_0019312)
 Strong
IGHMBP2
(HGNC:5542)
autosomal recessive distal spinal muscular atrophy 1
(MONDO_0011436)
 Definitive
CFI
(HGNC:5394)
thrombotic microangiopathy
(MONDO_0019737)
 Moderate
CFI
(HGNC:5394)
atypical hemolytic-uremic syndrome
(MONDO_0016244)
 Strong
NOTCH2NLC
(HGNC:53924)
neuronal intranuclear inclusion disease
(MONDO_0011327)
 Strong
CFI
(HGNC:5394)
complement factor I deficiency
(MONDO_0012594)
 Strong
HSPB1
(HGNC:5246)
distal hereditary motor neuropathy
(MONDO_0018894)
 Definitive
IDUA
(HGNC:5391)
mucopolysaccharidosis
(MONDO_0019249)
 Definitive
HSPG2
(HGNC:5273)
Schwartz-Jampel syndrome
(MONDO_0009717)
 Definitive
IDUA
(HGNC:5391)
Hurler syndrome
(MONDO_0011758)
 Definitive
HSPB1
(HGNC:5246)
Charcot-Marie-Tooth disease axonal type 2F
(MONDO_0011687)
 Definitive
IDUA
(HGNC:5391)
mucopolysaccharidosis type 1
(MONDO_0001586)
 Definitive
IDS
(HGNC:5389)
mucopolysaccharidosis type 2
(MONDO_0010674)
 Definitive
HSD3B2
(HGNC:5218)
congenital adrenal hyperplasia
(MONDO_0018479)
 Definitive
Showing 4561–4580 of 6681