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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Strong
|
|
|
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)
|
Limited
|
|
|
MIPEP
(HGNC:7104)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
MID1
(HGNC:7095)
|
X-linked Opitz G/BBB syndrome
(MONDO_0010222)
|
Strong
|
|
|
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)
|
Moderate
|
|
|
MET
(HGNC:7029)
|
papillary renal cell carcinoma
(MONDO_0017884)
|
Moderate
|
|
|
MET
(HGNC:7029)
|
hereditary papillary renal cell carcinoma
(MONDO_0003789)
|
Definitive
|
|
|
MET
(HGNC:7029)
|
osteofibrous dysplasia
(MONDO_0011806)
|
Moderate
|
|
|
MEN1
(HGNC:7010)
|
pituitary gigantism
(MONDO_0020479)
|
Limited
|
|
|
MEN1
(HGNC:7010)
|
multiple endocrine neoplasia type 1
(MONDO_0007540)
|
Definitive
|
|
|
MEN1
(HGNC:7010)
|
familial isolated hyperparathyroidism
(MONDO_0015027)
|
Moderate
|
|
|
MEIS2
(HGNC:7001)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|