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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
MCOLN1
(HGNC:13356)
|
mucolipidosis type IV
(MONDO_0009653)
|
Definitive
|
|
|
ATP2C1
(HGNC:13211)
|
Hailey-Hailey disease
(MONDO_0008218)
|
Definitive
|
|
|
HDAC8
(HGNC:13315)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Definitive
|
|
|
EML4
(HGNC:1316)
|
lung cancer
(MONDO_0008903)
|
Moderate
|
|
|
EML4
(HGNC:1316)
|
lung adenocarcinoma
(MONDO_0005061)
|
Strong
|
|
|
EML4
(HGNC:1316)
|
non-small cell lung carcinoma
(MONDO_0005233)
|
Strong
|
|
|
ACTA2
(HGNC:130)
|
multisystemic smooth muscle dysfunction syndrome
(MONDO_0013452)
|
Strong
|
|
|
ACTA2
(HGNC:130)
|
thoracic aortic aneurysm
(MONDO_0005396)
|
Strong
|
|
|
KAT6A
(HGNC:13013)
|
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
(MONDO_0014558)
|
Definitive
|
|
|
WNT1
(HGNC:12774)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Definitive
|
|
|
ZMPSTE24
(HGNC:12877)
|
restrictive dermopathy
(MONDO_0031213)
|
Definitive
|
|
|
ZMPSTE24
(HGNC:12877)
|
mandibuloacral dysplasia
(MONDO_0016584)
|
Strong
|
|
|
XDH
(HGNC:12805)
|
xanthinuria type I
(MONDO_0010209)
|
Strong
|
|
|
XK
(HGNC:12811)
|
McLeod neuroacanthocytosis syndrome
(MONDO_0018945)
|
Definitive
|
|
|
CCN6
(HGNC:12771)
|
progressive pseudorheumatoid arthropathy of childhood
(MONDO_0008827)
|
Definitive
|
|
|
NSD2
(HGNC:12766)
|
Wolf-Hirschhorn syndrome
(MONDO_0008684)
|
Moderate
|
|
|
USP8
(HGNC:12631)
|
Cushing disease due to pituitary adenoma
(MONDO_0009050)
|
Strong
|
|
|
VPS33B
(HGNC:12712)
|
arthrogryposis-renal dysfunction-cholestasis syndrome
(MONDO_0017123)
|
Definitive
|
|
|
TNNT1
(HGNC:11948)
|
nemaline myopathy
(MONDO_0018958)
|
Strong
|
|
|
UROS
(HGNC:12592)
|
cutaneous porphyria
(MONDO_0009902)
|
Definitive
|
|