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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
TNNT1
(HGNC:11948)
nemaline myopathy
(MONDO_0018958)
 Definitive
UROS
(HGNC:12592)
cutaneous porphyria
(MONDO_0009902)
 Definitive
CD40LG
(HGNC:11935)
hyper-IgM syndrome type 1
(MONDO_0010626)
 Definitive
UROD
(HGNC:12591)
hepatoerythropoietic porphyria
(MONDO_0019799)
 Definitive
TIMP3
(HGNC:11822)
Sorsby fundus dystrophy
(MONDO_0007640)
 Definitive
TNXB
(HGNC:11976)
Ehlers-Danlos syndrome
(MONDO_0020066)
 Definitive
UROD
(HGNC:12591)
porphyria cutanea tarda
(MONDO_0015104)
 Definitive
UBA1
(HGNC:12469)
VEXAS syndrome
(MONDO_0026777)
 Strong
UBE3A
(HGNC:12496)
Angelman syndrome
(MONDO_0007113)
 Definitive
TWIST1
(HGNC:12428)
craniosynostosis
(MONDO_0015469)
 Definitive
TWIST1
(HGNC:12428)
Saethre-Chotzen syndrome
(MONDO_0007042)
 Definitive
TTPA
(HGNC:12404)
familial isolated deficiency of vitamin E
(MONDO_0010188)
 Definitive
TRPS1
(HGNC:12340)
trichorhinophalangeal syndrome
(MONDO_0017951)
 Definitive
TRPS1
(HGNC:12340)
trichorhinophalangeal syndrome type I
(MONDO_0008596)
 Definitive
TRPC6
(HGNC:12338)
focal segmental glomerulosclerosis
(MONDO_0100313)
 Strong
TPM3
(HGNC:12012)
nemaline myopathy
(MONDO_0018958)
 Definitive
SERPING1
(HGNC:1228)
hereditary angioedema
(MONDO_0019623)
 Definitive
TPM3
(HGNC:12012)
cap myopathy
(MONDO_0015753)
 Strong
TPM1
(HGNC:12010)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Strong
TPM1
(HGNC:12010)
dilated cardiomyopathy
(MONDO_0005021)
 Strong
Showing 5061–5080 of 6681