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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
MKS1
(HGNC:7121)
Meckel syndrome
(MONDO_0018921)
 Definitive
MKS1
(HGNC:7121)
Joubert syndrome
(MONDO_0018772)
 Strong
MKS1
(HGNC:7121)
Bardet-Biedl syndrome
(MONDO_0015229)
 Strong
MKS1
(HGNC:7121)
Meckel syndrome, type 1
(MONDO_0009571)
 Definitive
ATXN3
(HGNC:7106)
Machado-Joseph disease
(MONDO_0007182)
 Definitive
MITF
(HGNC:7105)
Waardenburg syndrome type 2
(MONDO_0019517)
 Definitive
MITF
(HGNC:7105)
Waardenburg syndrome
(MONDO_0018094)
 Definitive
MITF
(HGNC:7105)
Waardenburg syndrome type 2A
(MONDO_0008671)
 Strong
MITF
(HGNC:7105)
Tietz syndrome
(MONDO_0007077)
 Strong
MITF
(HGNC:7105)
renal cell carcinoma
(MONDO_0005086)
 Moderate
MIPEP
(HGNC:7104)
mitochondrial disease
(MONDO_0044970)
 Strong
MID1
(HGNC:7095)
X-linked Opitz G/BBB syndrome
(MONDO_0010222)
 Definitive
CIITA
(HGNC:7067)
MHC class II deficiency
(MONDO_0008855)
 Definitive
MGP
(HGNC:7060)
Keutel syndrome
(MONDO_0009495)
 Definitive
MGAT2
(HGNC:7045)
MGAT2-congenital disorder of glycosylation
(MONDO_0008908)
 Strong
MET
(HGNC:7029)
papillary renal cell carcinoma
(MONDO_0017884)
 Strong
MET
(HGNC:7029)
hereditary papillary renal cell carcinoma
(MONDO_0003789)
 Definitive
MET
(HGNC:7029)
osteofibrous dysplasia
(MONDO_0011806)
 Strong
MEN1
(HGNC:7010)
pituitary gigantism
(MONDO_0020479)
 Limited
MEN1
(HGNC:7010)
multiple endocrine neoplasia type 1
(MONDO_0007540)
 Definitive
Showing 841–860 of 6681