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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
MMP14
(HGNC:7160)
|
Winchester syndrome
(MONDO_0010201)
|
Moderate
|
|
|
MMP13
(HGNC:7159)
|
metaphyseal anadysplasia
(MONDO_0015177)
|
Limited
|
|
|
MMP13
(HGNC:7159)
|
metaphyseal chondrodysplasia, Spahr type
(MONDO_0009597)
|
Strong
|
|
|
MLYCD
(HGNC:7150)
|
malonic aciduria
(MONDO_0009556)
|
Definitive
|
|
|
TRPM1
(HGNC:7146)
|
congenital stationary night blindness
(MONDO_0016293)
|
Strong
|
|
|
ARSA
(HGNC:713)
|
metachromatic leukodystrophy
(MONDO_0018868)
|
Definitive
|
|
|
ARSA
(HGNC:713)
|
metachromatic leukodystrophy, juvenile form
(MONDO_0009591)
|
Strong
|
|
|
KMT2D
(HGNC:7133)
|
Kabuki syndrome
(MONDO_0016512)
|
Definitive
|
|
|
KMT2A
(HGNC:7132)
|
Wiedemann-Steiner syndrome
(MONDO_0011518)
|
Definitive
|
|
|
MLH1
(HGNC:7127)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
MLH1
(HGNC:7127)
|
Lynch syndrome 2
(MONDO_0012249)
|
Strong
|
|
|
MLH1
(HGNC:7127)
|
mismatch repair cancer syndrome 1
(MONDO_0010159)
|
Strong
|
|
|
MLH1
(HGNC:7127)
|
prostate cancer
(MONDO_0008315)
|
Moderate
|
|
|
MLH1
(HGNC:7127)
|
ovarian cancer
(MONDO_0008170)
|
Moderate
|
|
|
MLH1
(HGNC:7127)
|
breast cancer
(MONDO_0007254)
|
Disputed
|
|
|
MLH1
(HGNC:7127)
|
Muir-Torre syndrome
(MONDO_0008018)
|
Strong
|
|
|
MLH1
(HGNC:7127)
|
Lynch syndrome
(MONDO_0005835)
|
Definitive
|
|
|
MLH1
(HGNC:7127)
|
rhabdomyosarcoma
(MONDO_0005212)
|
Limited
|
|
|
MKS1
(HGNC:7121)
|
Meckel syndrome
(MONDO_0018921)
|
Definitive
|
|
|
MKS1
(HGNC:7121)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|