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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
SAMHD1
(HGNC:15925)
Aicardi-Goutieres syndrome 5
(MONDO_0013059)
 Limited
RP1L1
(HGNC:15946)
retinitis pigmentosa
(MONDO_0019200)
 Strong
SAMHD1
(HGNC:15925)
Moyamoya disease
(MONDO_0016820)
 Limited
SALL4
(HGNC:15924)
Duane-radial ray syndrome
(MONDO_0011812)
 Strong
SALL4
(HGNC:15924)
Duane retraction syndrome
(MONDO_0007473)
 Limited
PLCB1
(HGNC:15917)
malignant migrating partial seizures of infancy
(MONDO_0017385)
 Limited
PLCB1
(HGNC:15917)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
NOP56
(HGNC:15911)
spinocerebellar ataxia type 36
(MONDO_0013594)
 Strong
RTEL1
(HGNC:15888)
dyskeratosis congenita
(MONDO_0015780)
 Definitive
RTEL1
(HGNC:15888)
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
 Strong
MYH7B
(HGNC:15906)
left ventricular noncompaction
(MONDO_0018901)
 Limited
TMEM230
(HGNC:15876)
Parkinson disease
(MONDO_0005180)
 Limited
KIZ
(HGNC:15865)
retinitis pigmentosa
(MONDO_0019200)
 Strong
RBCK1
(HGNC:15864)
polyglucosan body myopathy 1 with or without immunodeficiency
(MONDO_0014389)
 Strong
PRPF6
(HGNC:15860)
retinitis pigmentosa
(MONDO_0019200)
 Strong
ARFGEF2
(HGNC:15853)
periventricular nodular heterotopia
(MONDO_0020341)
 Limited
TASP1
(HGNC:15859)
Suleiman-El-Hattab syndrome
(MONDO_0033532)
 Strong
KMT2B
(HGNC:15840)
intellectual developmental disorder, autosomal dominant 68
(MONDO_0030969)
 Strong
KMT2B
(HGNC:15840)
dystonia 28, childhood-onset
(MONDO_0015004)
 Definitive
PROKR2
(HGNC:15836)
Kallmann syndrome
(MONDO_0018800)
 Strong
Showing 3281–3300 of 6681