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
SPRY4
(HGNC:15533)
Kallmann syndrome
(MONDO_0018800)
 Limited
JAM3
(HGNC:15532)
porencephaly-microcephaly-bilateral congenital cataract syndrome
(MONDO_0013394)
 Strong
LPAR6
(HGNC:15520)
hypotrichosis simplex
(MONDO_0018914)
 Strong
LPAR6
(HGNC:15520)
hypotrichosis 8
(MONDO_0010206)
 Strong
LPAR6
(HGNC:15520)
isolated familial wooly hair disorder
(MONDO_0008686)
 Strong
CBS
(HGNC:1550)
classic homocystinuria
(MONDO_0009352)
 Definitive
DCTN4
(HGNC:15518)
cystic fibrosis
(MONDO_0009061)
 Limited
XYLT1
(HGNC:15516)
Desbuquois dysplasia
(MONDO_0015426)
 Strong
XYLT1
(HGNC:15516)
Desbuquois dysplasia 2
(MONDO_0014343)
 Strong
ANKH
(HGNC:15492)
chondrocalcinosis 2
(MONDO_0007319)
 Moderate
PUS1
(HGNC:15508)
myopathy, lactic acidosis, and sideroblastic anemia
(MONDO_0000863)
 Strong
ANKH
(HGNC:15492)
craniometaphyseal dysplasia
(MONDO_0015465)
 Strong
ANKH
(HGNC:15492)
craniometaphyseal dysplasia, autosomal dominant
(MONDO_0007397)
 Moderate
DNAJC6
(HGNC:15469)
young-onset Parkinson disease
(MONDO_0017279)
 Moderate
MBTPS2
(HGNC:15455)
keratosis follicularis spinulosa decalvans
(MONDO_0000136)
 Strong
DIAPH3
(HGNC:15480)
auditory neuropathy
(MONDO_0021944)
 Limited
MBTPS1
(HGNC:15456)
spondyloepiphyseal dysplasia, kondo-fu type
(MONDO_0032721)
 Moderate
MBTPS2
(HGNC:15455)
BRESEK syndrome
(MONDO_0019414)
 Moderate
MBTPS2
(HGNC:15455)
osteogenesis imperfecta
(MONDO_0019019)
 Moderate
SHOC2
(HGNC:15454)
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
 Strong
Showing 3361–3380 of 6699