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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
SLC34A1
(HGNC:11019)
hypercalcemia, infantile
(MONDO_0000212)
 Definitive
SH2D1A
(HGNC:10820)
X-linked lymphoproliferative syndrome
(MONDO_0010627)
 Definitive
SLC26A2
(HGNC:10994)
multiple epiphyseal dysplasia
(MONDO_0016648)
 Definitive
SLC22A5
(HGNC:10969)
systemic primary carnitine deficiency disease
(MONDO_0008919)
 Definitive
SLCO2A1
(HGNC:10955)
primary hypertrophic osteoarthropathy
(MONDO_0016620)
 Definitive
SLC20A2
(HGNC:10947)
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
 Definitive
SLC19A2
(HGNC:10938)
thiamine-responsive megaloblastic anemia syndrome
(MONDO_0009575)
 Definitive
SLC17A5
(HGNC:10933)
Salla disease
(MONDO_0011449)
 Definitive
FOXL2
(HGNC:1092)
blepharophimosis, ptosis, and epicanthus inversus syndrome
(MONDO_0007201)
 Definitive
FOXL2
(HGNC:1092)
granulosa cell tumor
(MONDO_0006036)
 Definitive
FOXL2
(HGNC:1092)
premature menopause
(MONDO_0001119)
 Moderate
SGSH
(HGNC:10818)
mucopolysaccharidosis type 3
(MONDO_0018937)
 Definitive
SHOX
(HGNC:10853)
Leri-Weill dyschondrosteosis
(MONDO_0007481)
 Definitive
SGCG
(HGNC:10809)
limb-girdle muscular dystrophy
(MONDO_0016971)
 Definitive
SGCG
(HGNC:10809)
autosomal recessive limb-girdle muscular dystrophy type 2C
(MONDO_0009677)
 Definitive
SGSH
(HGNC:10818)
mucopolysaccharidosis type 3A
(MONDO_0009655)
 Definitive
SGCB
(HGNC:10806)
autosomal recessive limb-girdle muscular dystrophy type 2E
(MONDO_0011423)
 Strong
SGCE
(HGNC:10808)
myoclonic dystonia 11
(MONDO_0008044)
 Definitive
RS1
(HGNC:10457)
X-linked retinoschisis
(MONDO_0010725)
 Definitive
SGCA
(HGNC:10805)
autosomal recessive limb-girdle muscular dystrophy type 2D
(MONDO_0011968)
 Strong
Showing 5161–5180 of 6681