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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
SART3
(HGNC:16860)
tardive dyskinesia
(MONDO_0010096)
 Disputed
USP6NL
(HGNC:16858)
Alzheimer disease
(MONDO_0004975)
 Limited
RAPGEF2
(HGNC:16854)
benign adult familial myoclonic epilepsy
(MONDO_0019448)
 Limited
TM4SF4
(HGNC:11856)
cholelithiasis
(MONDO_0012672)
 Limited
BMP7
(HGNC:1074)
hypospadias
(MONDO_0005345)
 Limited
RPL27
(HGNC:10328)
Diamond-Blackfan anemia
(MONDO_0015253)
 Moderate
RFXANK
(HGNC:9987)
MHC class II deficiency
(MONDO_0008855)
 Definitive
RFXAP
(HGNC:9988)
MHC class II deficiency
(MONDO_0008855)
 Strong
RFX5
(HGNC:9986)
MHC class II deficiency
(MONDO_0008855)
 Strong
RFX3
(HGNC:9984)
autism spectrum disorder
(MONDO_0005258)
 Moderate
RFX2
(HGNC:9983)
cerebral palsy
(MONDO_0006497)
 Limited
RFC1
(HGNC:9969)
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
(MONDO_0044720)
 Strong
RET
(HGNC:9967)
Hirschsprung disease
(MONDO_0018309)
 Strong
REV3L
(HGNC:9968)
Mobius syndrome
(MONDO_0008006)
 Limited
RET
(HGNC:9967)
renal agenesis, unilateral
(MONDO_0019636)
 Limited
RET
(HGNC:9967)
multiple endocrine neoplasia type 2A
(MONDO_0008234)
 Definitive
RET
(HGNC:9967)
pheochromocytoma
(MONDO_0008233)
 Definitive
RET
(HGNC:9967)
familial medullary thyroid carcinoma
(MONDO_0007958)
 Definitive
RET
(HGNC:9967)
multiple endocrine neoplasia type 2B
(MONDO_0008082)
 Definitive
RET
(HGNC:9967)
Hirschsprung disease, susceptibility to, 1
(MONDO_0007723)
 Definitive
Showing 101–120 of 6681