|
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
|
|