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
TSC1
(HGNC:12362)
lung lymphangioleiomyomatosis
(MONDO_0006277)
 Limited
TRPS1
(HGNC:12340)
trichorhinophalangeal syndrome, type III
(MONDO_0008597)
 Moderate
ZNHIT3
(HGNC:12309)
PEHO syndrome
(MONDO_0009841)
 Moderate
TRIP12
(HGNC:12306)
Clark-Baraitser syndrome
(MONDO_0030914)
 Strong
TRIP11
(HGNC:12305)
achondrogenesis type IA
(MONDO_0008701)
 Strong
SERPING1
(HGNC:1228)
C1 inhibitor deficiency
(MONDO_0007361)
 Definitive
SERPING1
(HGNC:1228)
hereditary angioedema type 1
(MONDO_0015053)
 Definitive
GIPC1
(HGNC:1226)
oculopharyngodistal myopathy
(MONDO_0025193)
 Strong
TREX1
(HGNC:12269)
Aicardi-Goutieres syndrome
(MONDO_0018866)
 Definitive
TREX1
(HGNC:12269)
Aicardi-Goutieres syndrome 1
(MONDO_0009165)
 Strong
TREX1
(HGNC:12269)
familial chilblain lupus
(MONDO_0018827)
 Strong
TREX1
(HGNC:12269)
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
(MONDO_0008641)
 Strong
TREX1
(HGNC:12269)
systemic lupus erythematosus
(MONDO_0007915)
 Moderate
TRDN
(HGNC:12261)
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
 Strong
TRDN
(HGNC:12261)
long QT syndrome
(MONDO_0002442)
 Strong
TPM2
(HGNC:12011)
cap myopathy
(MONDO_0015753)
 Strong
TPM3
(HGNC:12012)
congenital fiber-type disproportion myopathy
(MONDO_0009711)
 Strong
TPM2
(HGNC:12011)
Sheldon-hall syndrome
(MONDO_0011128)
 Strong
TPM2
(HGNC:12011)
congenital myopathy
(MONDO_0019952)
 Strong
TPM2
(HGNC:12011)
congenital fiber-type disproportion myopathy
(MONDO_0009711)
 Moderate
Showing 3761–3780 of 6699