|
CYP7B1
(HGNC:2652)
|
hereditary spastic paraplegia 5A
(MONDO_0010047)
|
Strong
|
|
|
POC5
(HGNC:26658)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
WDR81
(HGNC:26600)
|
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
(MONDO_0012430)
|
Moderate
|
|
|
DOK7
(HGNC:26594)
|
fetal akinesia deformation sequence 1
(MONDO_0100101)
|
Moderate
|
|
|
DOK7
(HGNC:26594)
|
congenital myasthenic syndrome 10
(MONDO_0009690)
|
Definitive
|
|
|
UNC80
(HGNC:26582)
|
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
(MONDO_0014777)
|
Strong
|
|
|
ODAD1
(HGNC:26560)
|
primary ciliary dyskinesia 20
(MONDO_0014030)
|
Moderate
|
|
|
CFAP53
(HGNC:26530)
|
situs inversus
(MONDO_0010029)
|
Limited
|
|
|
DZIP1L
(HGNC:26551)
|
autosomal recessive polycystic kidney disease
(MONDO_0009889)
|
Moderate
|
|
|
CYP7B1
(HGNC:2652)
|
congenital bile acid synthesis defect 3
(MONDO_0013439)
|
Limited
|
|
|
HGSNAT
(HGNC:26527)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
HGSNAT
(HGNC:26527)
|
mucopolysaccharidosis type 3
(MONDO_0018937)
|
Definitive
|
|
|
LOXHD1
(HGNC:26521)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Disputed
|
|
|
AGBL1
(HGNC:26504)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Disputed
|
|
|
NARS2
(HGNC:26274)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
ZMAT2
(HGNC:26433)
|
congenital radioulnar synostosis
(MONDO_0017985)
|
Limited
|
|
|
UROC1
(HGNC:26444)
|
urocanic aciduria
(MONDO_0010167)
|
Limited
|
|
|
HEPACAM
(HGNC:26361)
|
megalencephalic leukoencephalopathy with subcortical cysts
(MONDO_0011391)
|
Strong
|
|
|
HEPACAM
(HGNC:26361)
|
megalencephalic leukoencephalopathy with subcortical cysts 2A
(MONDO_0013490)
|
Moderate
|
|
|
SCLT1
(HGNC:26406)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|