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Gene–disease association summaries
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
|
|