|
LITAF
(HGNC:16841)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
COQ8A
(HGNC:16812)
|
coenzyme Q10 deficiency
(MONDO_0018151)
|
Strong
|
|
|
COQ8A
(HGNC:16812)
|
autosomal recessive ataxia due to ubiquinone deficiency
(MONDO_0012784)
|
Strong
|
|
|
TAOK2
(HGNC:16835)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
ZNF423
(HGNC:16762)
|
nephronophthisis
(MONDO_0019005)
|
Limited
|
|
|
CD3D
(HGNC:1673)
|
immunodeficiency 19
(MONDO_0014280)
|
Limited
|
|
|
CDC73
(HGNC:16783)
|
hyperparathyroidism 2 with jaw tumors
(MONDO_0007768)
|
Definitive
|
|
|
FBXO32
(HGNC:16731)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
ZBTB11
(HGNC:16740)
|
intellectual developmental disorder, autosomal recessive 69
(MONDO_0032715)
|
Moderate
|
|
|
DHX30
(HGNC:16716)
|
neurodevelopmental disorder with severe motor impairment and absent language
(MONDO_0060622)
|
Strong
|
|
|
BCAP31
(HGNC:16695)
|
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
(MONDO_0010334)
|
Moderate
|
|
|
MCEE
(HGNC:16732)
|
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
(MONDO_0009615)
|
Moderate
|
|
|
ZFPM2
(HGNC:16700)
|
tetralogy of fallot
(MONDO_0008542)
|
Limited
|
|
|
TUBGCP4
(HGNC:16691)
|
microcephaly and chorioretinopathy 3
(MONDO_0014592)
|
Strong
|
|
|
SCARB2
(HGNC:1665)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Strong
|
|
|
SCARB2
(HGNC:1665)
|
action myoclonus-renal failure syndrome
(MONDO_0009699)
|
Strong
|
|
|
SCARB2
(HGNC:1665)
|
Unverricht-Lundborg syndrome
(MONDO_0009698)
|
Moderate
|
|
|
IFITM5
(HGNC:16644)
|
osteogenesis imperfecta type 5
(MONDO_0012591)
|
Definitive
|
|
|
SRRM2
(HGNC:16639)
|
intellectual developmental disorder, autosomal dominant 72
(MONDO_0957397)
|
Strong
|
|
|
CD36
(HGNC:1663)
|
platelet-type bleeding disorder 10
(MONDO_0012031)
|
Moderate
|
|