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
CD40LG
(HGNC:11935)
hyper-IgM syndrome type 1
(MONDO_0010626)
 Definitive
UROD
(HGNC:12591)
hepatoerythropoietic porphyria
(MONDO_0019799)
 Strong
TIMP3
(HGNC:11822)
Sorsby fundus dystrophy
(MONDO_0007640)
 Definitive
TNXB
(HGNC:11976)
Ehlers-Danlos syndrome
(MONDO_0020066)
 Strong
UROD
(HGNC:12591)
porphyria cutanea tarda
(MONDO_0015104)
 Definitive
UBA1
(HGNC:12469)
VEXAS syndrome
(MONDO_0026777)
 Definitive
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)
 Strong
TRPC6
(HGNC:12338)
focal segmental glomerulosclerosis
(MONDO_0100313)
 Strong
TPM3
(HGNC:12012)
nemaline myopathy
(MONDO_0018958)
 Strong
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
STIM1
(HGNC:11386)
tubular aggregate myopathy
(MONDO_0008051)
 Strong
SPTLC1
(HGNC:11277)
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
 Definitive
Showing 5081–5100 of 6699