|
SLC25A38
(HGNC:26054)
|
autosomal recessive sideroblastic anemia
(MONDO_0016828)
|
Strong
|
|
|
TMEM70
(HGNC:26050)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
PIGV
(HGNC:26031)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Strong
|
|
|
TMEM127
(HGNC:26038)
|
renal cell carcinoma
(MONDO_0005086)
|
Limited
|
|
|
PIGV
(HGNC:26031)
|
hyperphosphatasia with intellectual disability syndrome 1
(MONDO_0009398)
|
Strong
|
|
|
CYP24A1
(HGNC:2602)
|
hypercalcemia, infantile, 1
(MONDO_0020739)
|
Strong
|
|
|
TRMT10C
(HGNC:26022)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
CYP21A2
(HGNC:2600)
|
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
(MONDO_0008728)
|
Definitive
|
|
|
TTC19
(HGNC:26006)
|
mitochondrial complex III deficiency
(MONDO_0015448)
|
Strong
|
|
|
TTC19
(HGNC:26006)
|
mitochondrial complex III deficiency nuclear type 2
(MONDO_0014063)
|
Strong
|
|
|
TTC19
(HGNC:26006)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
NSUN2
(HGNC:25994)
|
Dubowitz syndrome
(MONDO_0009124)
|
Limited
|
|
|
CYP1B1
(HGNC:2597)
|
congenital glaucoma
(MONDO_0020366)
|
Definitive
|
|
|
CYP1B1
(HGNC:2597)
|
Peters anomaly
(MONDO_0011414)
|
Moderate
|
|
|
CYP19A1
(HGNC:2594)
|
aromatase excess syndrome
(MONDO_0007690)
|
Strong
|
|
|
CYP19A1
(HGNC:2594)
|
aromatase deficiency
(MONDO_0013301)
|
Definitive
|
|
|
CYP11B2
(HGNC:2592)
|
corticosterone methyloxidase type 1 deficiency
(MONDO_0008751)
|
Strong
|
|
|
KLHL24
(HGNC:25947)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
TET2
(HGNC:25941)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Moderate
|
|
|
CYP17A1
(HGNC:2593)
|
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
(MONDO_0008730)
|
Definitive
|
|