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
USH1C
(HGNC:12597)
Usher syndrome type 1
(MONDO_0010168)
 Definitive
UQCRFS1
(HGNC:12587)
mitochondrial complex III deficiency
(MONDO_0015448)
 Moderate
UROD
(HGNC:12591)
familial porphyria cutanea tarda
(MONDO_0008296)
 Definitive
UQCRC2
(HGNC:12586)
mitochondrial disease
(MONDO_0044970)
 Moderate
UQCRC2
(HGNC:12586)
mitochondrial complex III deficiency
(MONDO_0015448)
 Moderate
UQCRB
(HGNC:12582)
mitochondrial complex III deficiency
(MONDO_0015448)
 Limited
UPK3A
(HGNC:12580)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
 Limited
UMOD
(HGNC:12559)
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
(MONDO_0008264)
 Definitive
UMPS
(HGNC:12563)
orotic aciduria
(MONDO_0009797)
 Strong
UBE2L3
(HGNC:12488)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
C1S
(HGNC:1247)
Ehlers-Danlos syndrome, periodontitis type
(MONDO_0007527)
 Moderate
UMOD
(HGNC:12559)
familial juvenile hyperuricemic nephropathy type 1
(MONDO_0008073)
 Definitive
UBQLN2
(HGNC:12509)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Strong
UBQLN1
(HGNC:12508)
intellectual disability
(MONDO_0001071)
 Limited
C2
(HGNC:1248)
complement component 2 deficiency
(MONDO_0009006)
 Strong
UBA1
(HGNC:12469)
infantile-onset X-linked spinal muscular atrophy
(MONDO_0010532)
 Strong
UBAP1
(HGNC:12461)
spastic paraplegia 80, autosomal dominant
(MONDO_0032737)
 Strong
C1S
(HGNC:1247)
complement component C1s deficiency
(MONDO_0013419)
 Moderate
C1QC
(HGNC:1245)
C1Q deficiency
(MONDO_0013343)
 Moderate
TYRP1
(HGNC:12450)
oculocutaneous albinism type 3
(MONDO_0008747)
 Moderate
Showing 3701–3720 of 6699