Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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

Browse Summaries

Stats

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

Gene–Disease Browser

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Gene Disease Score Actions
LSS
(HGNC:6708)
alopecia-intellectual disability syndrome 4
(MONDO_0030009)
Strong
LSS
(HGNC:6708)
cataract 44
(MONDO_0014673)
Strong
LSS
(HGNC:6708)
hypotrichosis simplex
(MONDO_0018914)
Strong
LRRFIP1
(HGNC:6702)
schizophrenia
(MONDO_0005090)
Limited
LRP6
(HGNC:6698)
tooth agenesis
(MONDO_0005486)
Strong
LRP5
(HGNC:6697)
exudative vitreoretinopathy
(MONDO_0019516)
Definitive
LRP5
(HGNC:6697)
osteoporosis-pseudoglioma syndrome
(MONDO_0009820)
Definitive
LRP5
(HGNC:6697)
hyperostosis corticalis generalisata
(MONDO_0009395)
Strong
LRP5
(HGNC:6697)
autosomal dominant osteosclerosis, Worth type
(MONDO_0007764)
Strong
LRP4
(HGNC:6696)
sclerosteosis
(MONDO_0017838)
Strong
LRP4
(HGNC:6696)
congenital myasthenic syndrome 17
(MONDO_0014578)
Moderate
LRP4
(HGNC:6696)
sclerosteosis 2
(MONDO_0013679)
Moderate
LRP2
(HGNC:6694)
Stickler syndrome
(MONDO_0019354)
Limited
LRP1
(HGNC:6692)
schizophrenia
(MONDO_0005090)
Limited
LRAT
(HGNC:6685)
retinitis pigmentosa
(MONDO_0019200)
Strong
LRAT
(HGNC:6685)
Leber congenital amaurosis
(MONDO_0018998)
Strong
RHOA
(HGNC:667)
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
(MONDO_0032884)
Limited
LRAT
(HGNC:6685)
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
Strong
LPL
(HGNC:6677)
hyperlipidemia, familial combined, LPL related
(MONDO_0007759)
Limited
LORICRIN
(HGNC:6663)
loricrin keratoderma
(MONDO_0011396)
Strong
Showing 941–960 of 6681