Stats
Gene–disease association summaries
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
|
|