Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 5061–5080 of 6699