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
NDUFAF8
(HGNC:33551)
Leigh syndrome
(MONDO_0009723)
 Moderate
ENPP1
(HGNC:3356)
arterial calcification, generalized, of infancy, 1
(MONDO_0008817)
 Strong
ENG
(HGNC:3349)
juvenile polyposis syndrome
(MONDO_0017380)
 Refuted
ELF4
(HGNC:3319)
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
(MONDO_0024770)
 Strong
CCDC103
(HGNC:32700)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
ELN
(HGNC:3327)
autosomal dominant cutis laxa
(MONDO_0019571)
 Strong
ENG
(HGNC:3349)
telangiectasia, hereditary hemorrhagic, type 1
(MONDO_0008535)
 Definitive
ATRIP
(HGNC:33499)
breast cancer
(MONDO_0007254)
 Moderate
AGRN
(HGNC:329)
congenital myasthenic syndrome 8
(MONDO_0014052)
 Strong
ENAM
(HGNC:3344)
amelogenesis imperfecta type 1
(MONDO_0015047)
 Strong
EMX2
(HGNC:3341)
schizencephaly
(MONDO_0010011)
 Disputed
EMD
(HGNC:3331)
X-linked Emery-Dreifuss muscular dystrophy
(MONDO_0010680)
 Definitive
ELANE
(HGNC:3309)
cyclic hematopoiesis
(MONDO_0008090)
 Definitive
AGR2
(HGNC:328)
respiratory infections, recurrent, and failure to thrive with or without diarrhea
(MONDO_0859370)
 Moderate
ELN
(HGNC:3327)
supravalvular aortic stenosis
(MONDO_0008504)
 Definitive
ELANE
(HGNC:3309)
neutropenia
(MONDO_0001475)
 Strong
ABCA2
(HGNC:32)
intellectual developmental disorder with poor growth and with or without seizures or ataxia
(MONDO_0032930)
 Limited
SMPD4
(HGNC:32949)
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
(MONDO_0032838)
 Moderate
RNF207
(HGNC:32947)
long QT syndrome
(MONDO_0002442)
 Limited
DUOXA2
(HGNC:32698)
familial thyroid dyshormonogenesis
(MONDO_0010132)
 Moderate
Showing 1821–1840 of 6699