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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene Disease Score Actions
CARTPT
(HGNC:24323)
inherited obesity
(MONDO_0019182)
 Limited
PTRH2
(HGNC:24265)
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
(MONDO_8000012)
 Strong
ASCC1
(HGNC:24268)
spinal muscular atrophy with congenital bone fractures 2
(MONDO_0014807)
 Moderate
YARS2
(HGNC:24249)
myopathy, lactic acidosis, and sideroblastic anemia 2
(MONDO_0013307)
 Definitive
YARS2
(HGNC:24249)
myopathy, lactic acidosis, and sideroblastic anemia
(MONDO_0000863)
 Definitive
GLYCTK
(HGNC:24247)
D-glyceric aciduria
(MONDO_0009070)
 Moderate
CISD2
(HGNC:24212)
Wolfram syndrome
(MONDO_0018105)
 Strong
CISD2
(HGNC:24212)
Wolfram syndrome 2
(MONDO_0011502)
 Strong
FAM111B
(HGNC:24200)
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
(MONDO_0014310)
 Definitive
BRCC3
(HGNC:24185)
Moyamoya disease
(MONDO_0016820)
 Moderate
PHF21A
(HGNC:24156)
intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
(MONDO_0032883)
 Strong
B9D1
(HGNC:24123)
Meckel syndrome
(MONDO_0018921)
 Moderate
B9D1
(HGNC:24123)
Joubert syndrome
(MONDO_0018772)
 Limited
RNASEH2C
(HGNC:24116)
Aicardi-Goutieres syndrome
(MONDO_0018866)
 Strong
SORBS2
(HGNC:24098)
congenital heart disease
(MONDO_0005453)
 Limited
GALM
(HGNC:24063)
galactosemia 4
(MONDO_0030105)
 Strong
KNL1
(HGNC:24054)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Strong
ADIPOR1
(HGNC:24040)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
CLMP
(HGNC:24039)
congenital short bowel syndrome
(MONDO_0014097)
 Moderate
APPL1
(HGNC:24035)
maturity-onset diabetes of the young
(MONDO_0018911)
 Disputed
Showing 2441–2460 of 6681