Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| 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
|
|