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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
HIBCH
(HGNC:4908)
Leigh syndrome
(MONDO_0009723)
 Moderate
HESX1
(HGNC:4877)
pituitary stalk interruption syndrome
(MONDO_0019828)
 Limited
HESX1
(HGNC:4877)
Kallmann syndrome
(MONDO_0018800)
 Limited
HDC
(HGNC:4855)
Tourette syndrome
(MONDO_0007661)
 Limited
HIBADH
(HGNC:4907)
3-hydroxyisobutyric aciduria
(MONDO_0009371)
 Moderate
HESX1
(HGNC:4877)
septooptic dysplasia
(MONDO_0008428)
 Strong
ABCB7
(HGNC:48)
X-linked sideroblastic anemia with ataxia
(MONDO_0010524)
 Strong
HFE
(HGNC:4886)
hemochromatosis type 1
(MONDO_0021001)
 Definitive
HTT
(HGNC:4851)
Lopes-Maciel-Rodan syndrome
(MONDO_0054573)
 Limited
ANGPT1
(HGNC:484)
primary congenital glaucoma
(MONDO_0000365)
 Moderate
ANG
(HGNC:483)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Strong
HCN1
(HGNC:4845)
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
 Strong
HCFC1
(HGNC:4839)
X-linked intellectual disability
(MONDO_0100284)
 Strong
HBD
(HGNC:4829)
delta-beta-thalassemia
(MONDO_0016489)
 Limited
HBB
(HGNC:4827)
beta thalassemia
(MONDO_0019402)
 Definitive
HBB
(HGNC:4827)
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
(MONDO_0018749)
 Limited
HBB
(HGNC:4827)
hemoglobin M disease
(MONDO_0018023)
 Moderate
HBB
(HGNC:4827)
sickle cell-hemoglobin c disease syndrome
(MONDO_0016669)
 Definitive
HBB
(HGNC:4827)
sickle cell-hemoglobin E disease syndrome
(MONDO_0016671)
 Moderate
HBB
(HGNC:4827)
hemoglobin E-beta-thalassemia syndrome
(MONDO_0016491)
 Definitive
Showing 1321–1340 of 6681