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
ATP6V0A2
(HGNC:18481)
wrinkly skin syndrome
(MONDO_0010208)
 Strong
ZDHHC5
(HGNC:18472)
schizophrenia
(MONDO_0005090)
 Limited
DEPDC5
(HGNC:18423)
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
 Strong
PROK2
(HGNC:18455)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Moderate
NAXE
(HGNC:18453)
Leigh syndrome
(MONDO_0009723)
 Limited
MCFD2
(HGNC:18451)
combined deficiency of factor V and factor VIII
(MONDO_0018175)
 Definitive
HAVCR2
(HGNC:18437)
subcutaneous panniculitis-like T-cell lymphoma
(MONDO_0019475)
 Strong
SETD2
(HGNC:18420)
Luscan-Lumish syndrome
(MONDO_0014791)
 Strong
SETD2
(HGNC:18420)
Sotos syndrome
(MONDO_0019349)
 Limited
ADA2
(HGNC:1839)
Diamond-Blackfan anemia
(MONDO_0015253)
 Limited
HPSE2
(HGNC:18374)
Ochoa syndrome
(MONDO_0000463)
 Strong
ADA2
(HGNC:1839)
Sneddon syndrome
(MONDO_0008436)
 Moderate
SMARCAD1
(HGNC:18398)
palmoplantar keratoderma-sclerodactyly syndrome
(MONDO_0008416)
 Moderate
SMARCAD1
(HGNC:18398)
isolated congenital adermatoglyphia
(MONDO_0007619)
 Moderate
CEBPE
(HGNC:1836)
specific granule deficiency
(MONDO_0009506)
 Moderate
IMPG2
(HGNC:18362)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
IMPG2
(HGNC:18362)
inherited retinal dystrophy
(MONDO_0019118)
 Moderate
WDR19
(HGNC:18340)
Senior-Loken syndrome
(MONDO_0017842)
 Moderate
IL17RC
(HGNC:18358)
chronic mucocutaneous candidiasis
(MONDO_0015279)
 Moderate
IMPG2
(HGNC:18362)
adult-onset foveomacular vitelliform dystrophy
(MONDO_0011979)
 Limited
Showing 2981–3000 of 6699