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
TELO2
(HGNC:29099)
TELO2-related intellectual disability-neurodevelopmental disorder
(MONDO_0014848)
 Strong
ANKLE2
(HGNC:29101)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Moderate
OBSL1
(HGNC:29092)
3M syndrome 2
(MONDO_0013039)
 Strong
OBSL1
(HGNC:29092)
3-M syndrome
(MONDO_0007477)
 Definitive
SMCHD1
(HGNC:29090)
arhinia, choanal atresia, and microphthalmia
(MONDO_0011323)
 Strong
SMCHD1
(HGNC:29090)
facioscapulohumeral muscular dystrophy
(MONDO_0001347)
 Strong
CEP135
(HGNC:29086)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Moderate
IFT140
(HGNC:29077)
retinitis pigmentosa
(MONDO_0019200)
 Strong
IFT140
(HGNC:29077)
Leber congenital amaurosis
(MONDO_0018998)
 Moderate
IFT140
(HGNC:29077)
autosomal dominant polycystic kidney disease
(MONDO_0004691)
 Strong
IFT140
(HGNC:29077)
Jeune syndrome
(MONDO_0018770)
 Strong
KATNIP
(HGNC:29068)
Joubert syndrome
(MONDO_0018772)
 Moderate
DSTYK
(HGNC:29043)
renal agenesis, unilateral
(MONDO_0019636)
 Limited
DSTYK
(HGNC:29043)
hereditary spastic paraplegia 23
(MONDO_0010046)
 Moderate
SZT2
(HGNC:29040)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Moderate
SZT2
(HGNC:29040)
developmental and epileptic encephalopathy, 18
(MONDO_0014201)
 Strong
CEP290
(HGNC:29021)
Leber congenital amaurosis
(MONDO_0018998)
 Definitive
CEP290
(HGNC:29021)
Meckel syndrome
(MONDO_0018921)
 Strong
CEP290
(HGNC:29021)
Leber congenital amaurosis 10
(MONDO_0012723)
 Strong
CEP290
(HGNC:29021)
Senior-Loken syndrome
(MONDO_0017842)
 Strong
Showing 2081–2100 of 6699