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VarSy

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
HYLS1
(HGNC:26558)
hydrolethalus syndrome
(MONDO_0006037)
 Definitive
VWA5B1
(HGNC:26538)
Alzheimer disease
(MONDO_0004975)
 Limited
HSPB6
(HGNC:26511)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
ZNF513
(HGNC:26498)
hereditary gingival fibromatosis
(MONDO_0016070)
 Limited
KASH5
(HGNC:26520)
premature menopause
(MONDO_0001119)
 Moderate
CCDC122
(HGNC:26478)
leprosy
(MONDO_0005124)
 Limited
CFAP54
(HGNC:26456)
primary ciliary dyskinesia
(MONDO_0016575)
 Moderate
TSNARE1
(HGNC:26437)
schizophrenia
(MONDO_0005090)
 Limited
HENMT1
(HGNC:26400)
male infertility
(MONDO_0005372)
 Moderate
CFAP54
(HGNC:26456)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Disputed
PLEKHS1
(HGNC:26285)
urinary bladder cancer
(MONDO_0001187)
 Limited
NDNF
(HGNC:26256)
Kallmann syndrome
(MONDO_0018800)
 Moderate
MYO19
(HGNC:26234)
hearing loss disorder
(MONDO_0005365)
 Limited
TMEM53
(HGNC:26186)
craniotubular dysplasia, Ikegawa type
(MONDO_0859226)
 Strong
STEEP1
(HGNC:26239)
intellectual disability
(MONDO_0001071)
 Moderate
CSPP1
(HGNC:26193)
Joubert syndrome
(MONDO_0018772)
 Strong
CCDC134
(HGNC:26185)
osteogenesis imperfecta
(MONDO_0019019)
 Moderate
ZNF672
(HGNC:26179)
GLUT1 deficiency syndrome
(MONDO_0000188)
 Disputed
REEP4
(HGNC:26176)
blepharospasm-oromandibular dystonia syndrome
(MONDO_0019772)
 Limited
ELMOD3
(HGNC:26158)
autism spectrum disorder
(MONDO_0005258)
 Disputed
Showing 5761–5780 of 6681