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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Strong
|
|
|
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)
|
Strong
|
|
|
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
|
|
|
HSD17B4
(HGNC:5213)
|
Perrault syndrome
(MONDO_0017312)
|
Moderate
|
|
|
HSD17B4
(HGNC:5213)
|
d-bifunctional protein deficiency
(MONDO_0009855)
|
Definitive
|
|