|
PREPL
(HGNC:30228)
|
myasthenic syndrome, congenital, 22
(MONDO_0044299)
|
Strong
|
|
|
PREPL
(HGNC:30228)
|
hypotonia-cystinuria syndrome
(MONDO_0011669)
|
Strong
|
|
|
SLC52A1
(HGNC:30225)
|
ariboflavinosis
(MONDO_0004573)
|
Limited
|
|
|
SLC52A2
(HGNC:30224)
|
Brown-Vialetto-van Laere syndrome 2
(MONDO_0013867)
|
Strong
|
|
|
RFT1
(HGNC:30220)
|
RFT1-congenital disorder of glycosylation
(MONDO_0012783)
|
Strong
|
|
|
ATP13A2
(HGNC:30213)
|
Kufor-Rakeb syndrome
(MONDO_0011706)
|
Strong
|
|
|
CRBN
(HGNC:30185)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Limited
|
|
|
STRADA
(HGNC:30172)
|
polyhydramnios, megalencephaly, and symptomatic epilepsy
(MONDO_0012611)
|
Strong
|
|
|
DPYSL2
(HGNC:3014)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
DPYS
(HGNC:3013)
|
dihydropyrimidinuria
(MONDO_0009111)
|
Strong
|
|
|
DPYD
(HGNC:3012)
|
dihydropyrimidine dehydrogenase deficiency
(MONDO_0010130)
|
Definitive
|
|
|
POP1
(HGNC:30129)
|
anauxetic dysplasia
(MONDO_0011773)
|
Moderate
|
|
|
DPP6
(HGNC:3010)
|
paroxysmal familial ventricular fibrillation
(MONDO_0100234)
|
Strong
|
|
|
PSENEN
(HGNC:30100)
|
Dowling-Degos disease
(MONDO_0008371)
|
Strong
|
|
|
REEP6
(HGNC:30078)
|
retinitis pigmentosa 77
(MONDO_0015013)
|
Strong
|
|
|
POLR3A
(HGNC:30074)
|
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
(MONDO_0011897)
|
Strong
|
|
|
POLR3A
(HGNC:30074)
|
odontoleukodystrophy
(MONDO_0019177)
|
Strong
|
|
|
KIAA0319L
(HGNC:30071)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
PIK3R5
(HGNC:30035)
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
(MONDO_0018996)
|
Limited
|
|
|
DPM1
(HGNC:3005)
|
congenital disorder of glycosylation type 1E
(MONDO_0012123)
|
Strong
|
|