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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
MTPAP
(HGNC:25532)
mitochondrial disease
(MONDO_0044970)
 Moderate
TSR2
(HGNC:25455)
Diamond-Blackfan anemia
(MONDO_0015253)
 Limited
LRRC56
(HGNC:25430)
primary ciliary dyskinesia
(MONDO_0016575)
 Limited
TRMU
(HGNC:25481)
Leigh syndrome
(MONDO_0009723)
 Limited
TRMU
(HGNC:25481)
mitochondrial myopathy with reversible cytochrome C oxidase deficiency
(MONDO_0010780)
 Moderate
ZWILCH
(HGNC:25468)
autism spectrum disorder
(MONDO_0005258)
 Limited
SASS6
(HGNC:25403)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Limited
OTUD5
(HGNC:25402)
multiple congenital anomalies-neurodevelopmental syndrome, X-linked
(MONDO_0025351)
 Moderate
ADH5
(HGNC:253)
AMED syndrome, digenic
(MONDO_0030894)
 Moderate
FREM2
(HGNC:25396)
Fraser syndrome
(MONDO_0009046)
 Definitive
CCDC8
(HGNC:25367)
3-M syndrome
(MONDO_0007477)
 Strong
SLC30A10
(HGNC:25355)
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
(MONDO_0013208)
 Strong
C3orf20
(HGNC:25320)
neuromyelitis optica
(MONDO_0019100)
 Disputed
CTSF
(HGNC:2531)
adult neuronal ceroid lipofuscinosis
(MONDO_0019260)
 Moderate
CTSD
(HGNC:2529)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Definitive
CTSD
(HGNC:2529)
neuronal ceroid lipofuscinosis 10
(MONDO_0012414)
 Definitive
TLCD3B
(HGNC:25295)
cone-rod dystrophy
(MONDO_0015993)
 Moderate
ODAD4
(HGNC:25280)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
CTSB
(HGNC:2527)
keratolytic winter erythema
(MONDO_0007854)
 Refuted
CTRC
(HGNC:2523)
hereditary chronic pancreatitis
(MONDO_0008185)
 Strong
Showing 2341–2360 of 6681