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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
TBC1D21
(HGNC:28536)
exfoliation syndrome
(MONDO_0008327)
 Limited
P4HTM
(HGNC:28858)
severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
(MONDO_0018572)
 Definitive
DAGLB
(HGNC:28923)
autism
(MONDO_0005260)
 Limited
MDFIC
(HGNC:28870)
lymphatic malformation 12
(MONDO_0031043)
 Moderate
SYCE1
(HGNC:28852)
premature menopause
(MONDO_0001119)
 Moderate
KIAA0825
(HGNC:28532)
postaxial polydactyly
(MONDO_0020927)
 Moderate
DIAPH2
(HGNC:2877)
laryngeal squamous cell carcinoma
(MONDO_0005595)
 Limited
DIAPH2
(HGNC:2877)
premature menopause
(MONDO_0001119)
 Limited
SHLD2
(HGNC:28773)
gout
(MONDO_0005393)
 Moderate
CNIH2
(HGNC:28744)
gout
(MONDO_0005393)
 Limited
SCARA5
(HGNC:28701)
von Willebrand disease (hereditary or acquired)
(MONDO_0024574)
 Disputed
CYBC1
(HGNC:28672)
chronic granulomatous disease
(MONDO_0018305)
 Moderate
METTL16
(HGNC:28484)
colorectal cancer
(MONDO_0005575)
 Limited
DGKD
(HGNC:2851)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
DGKD
(HGNC:2851)
rheumatoid arthritis
(MONDO_0008383)
 Limited
TMEM151A
(HGNC:28497)
episodic kinesigenic dyskinesia
(MONDO_0044202)
 Strong
CCNQ
(HGNC:28434)
syndactyly-telecanthus-anogenital and renal malformations syndrome
(MONDO_0010408)
 Strong
MRI1
(HGNC:28469)
ventricular septal defect
(MONDO_0002070)
 Limited
HROB
(HGNC:28460)
premature menopause
(MONDO_0001119)
 Moderate
POLR3GL
(HGNC:28466)
Wiedemann-Rautenstrauch syndrome
(MONDO_0009910)
 Limited
Showing 5681–5700 of 6681