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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
APPL1
(HGNC:24035)
maturity-onset diabetes of the young type 14
(MONDO_0014674)
 Limited
ABAT
(HGNC:23)
GABA aminotransaminase deficiency
(MONDO_0013166)
 Strong
SLX4
(HGNC:23845)
Fanconi anemia
(MONDO_0019391)
 Strong
CRYAB
(HGNC:2389)
fatal infantile hypertonic myofibrillar myopathy
(MONDO_0013472)
 Limited
SLX4
(HGNC:23845)
hereditary breast carcinoma
(MONDO_0016419)
 Limited
ASXL2
(HGNC:23805)
Shashi-Pena syndrome
(MONDO_0014963)
 Strong
CRX
(HGNC:2383)
retinitis pigmentosa
(MONDO_0019200)
 Strong
ADCY6
(HGNC:237)
lethal congenital contracture syndrome 8
(MONDO_0014570)
 Moderate
CRTAP
(HGNC:2379)
osteogenesis imperfecta type 7
(MONDO_0012536)
 Strong
PACS2
(HGNC:23794)
developmental and epileptic encephalopathy, 66
(MONDO_0054845)
 Strong
CRTAP
(HGNC:2379)
osteogenesis imperfecta type 3
(MONDO_0009804)
 Moderate
PIKFYVE
(HGNC:23785)
fleck corneal dystrophy
(MONDO_0007376)
 Moderate
MED27
(HGNC:2377)
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
(MONDO_0859137)
 Moderate
PTF1A
(HGNC:23734)
permanent neonatal diabetes mellitus
(MONDO_0100164)
 Moderate
PTF1A
(HGNC:23734)
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
(MONDO_0012192)
 Moderate
PGAP3
(HGNC:23719)
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
 Strong
PTF1A
(HGNC:23734)
pancreatic agenesis
(MONDO_0009832)
 Strong
PGAP3
(HGNC:23719)
hyperphosphatasia with intellectual disability syndrome 4
(MONDO_0014318)
 Strong
TTC12
(HGNC:23700)
primary ciliary dyskinesia
(MONDO_0016575)
 Moderate
ADCY5
(HGNC:236)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
Showing 2461–2480 of 6681