Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
DNAJC7
(HGNC:12392)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Moderate
TULP1
(HGNC:12423)
retinitis pigmentosa
(MONDO_0019200)
 Definitive
MYOT
(HGNC:12399)
myofibrillar myopathy 3
(MONDO_0012215)
 Moderate
TULP1
(HGNC:12423)
Leber congenital amaurosis
(MONDO_0018998)
 Definitive
TUFM
(HGNC:12420)
combined oxidative phosphorylation defect type 4
(MONDO_0012534)
 Moderate
C1QA
(HGNC:1241)
C1Q deficiency
(MONDO_0013343)
 Strong
TUBG1
(HGNC:12417)
lissencephaly spectrum disorders
(MONDO_0018838)
 Moderate
TUBB2A
(HGNC:12412)
complex cortical dysplasia with other brain malformations 5
(MONDO_0014337)
 Limited
TUB
(HGNC:12406)
retinitis pigmentosa
(MONDO_0019200)
 Limited
TUB
(HGNC:12406)
essential tremor
(MONDO_0003233)
 Limited
TTN
(HGNC:12403)
tibial muscular dystrophy
(MONDO_0010870)
 Strong
TSHR
(HGNC:12373)
thyroid hypoplasia
(MONDO_0019861)
 Moderate
TSHR
(HGNC:12373)
athyreosis
(MONDO_0019855)
 Limited
TSPYL1
(HGNC:12382)
sudden infant death-dysgenesis of the testes syndrome
(MONDO_0012124)
 Strong
TSHB
(HGNC:12372)
isolated thyroid-stimulating hormone deficiency
(MONDO_0010139)
 Limited
TSHR
(HGNC:12373)
familial hyperthyroidism due to mutations in TSH receptor
(MONDO_0012203)
 Strong
RSPH1
(HGNC:12371)
primary ciliary dyskinesia
(MONDO_0016575)
 Definitive
TSC2
(HGNC:12363)
lymphangioleiomyomatosis
(MONDO_0011705)
 Strong
TSFM
(HGNC:12367)
Leigh syndrome
(MONDO_0009723)
 Moderate
TSC1
(HGNC:12362)
tuberous sclerosis
(MONDO_0001734)
 Definitive
Showing 3741–3760 of 6699