|
SLC25A12
(HGNC:10982)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
SLC25A13
(HGNC:10983)
|
citrin deficiency
(MONDO_0016602)
|
Definitive
|
|
|
SLC25A12
(HGNC:10982)
|
developmental and epileptic encephalopathy, 39
(MONDO_0013056)
|
Moderate
|
|
|
SLC25A13
(HGNC:10983)
|
neonatal intrahepatic cholestasis due to citrin deficiency
(MONDO_0011601)
|
Definitive
|
|
|
BRAF
(HGNC:1097)
|
Noonan syndrome
(MONDO_0018997)
|
Strong
|
|
|
SLC25A10
(HGNC:10980)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
BRAF
(HGNC:1097)
|
anaplastic astrocytoma
(MONDO_0016684)
|
Limited
|
|
|
BRAF
(HGNC:1097)
|
Costello syndrome
(MONDO_0009026)
|
Disputed
|
|
|
BRAF
(HGNC:1097)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Definitive
|
|
|
BRAF
(HGNC:1097)
|
Noonan syndrome with multiple lentigines
(MONDO_0007893)
|
Moderate
|
|
|
SLC25A1
(HGNC:10979)
|
D,L-2-hydroxyglutaric aciduria
(MONDO_0014072)
|
Strong
|
|
|
SLC25A1
(HGNC:10979)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
SLC24A4
(HGNC:10978)
|
amelogenesis imperfecta type 2
(MONDO_0015048)
|
Strong
|
|
|
SLCO1B3
(HGNC:10961)
|
Rotor syndrome
(MONDO_0009379)
|
Strong
|
|
|
SLC22A5
(HGNC:10969)
|
short QT syndrome
(MONDO_0000453)
|
Limited
|
|
|
SLCO1B1
(HGNC:10959)
|
Rotor syndrome
(MONDO_0009379)
|
Strong
|
|
|
SLCO2A1
(HGNC:10955)
|
hypertrophic osteoarthropathy, primary, autosomal recessive, 2
(MONDO_0013756)
|
Strong
|
|
|
SLCO2A1
(HGNC:10955)
|
chronic enteropathy associated with SLCO2A1 gene
(MONDO_0018766)
|
Definitive
|
|
|
SLC1A3
(HGNC:10941)
|
episodic ataxia type 6
(MONDO_0012982)
|
Moderate
|
|
|
SLC1A4
(HGNC:10942)
|
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
(MONDO_0014725)
|
Strong
|
|