|
DCXR
(HGNC:18985)
|
pentosuria
(MONDO_0009846)
|
Moderate
|
|
|
MAST1
(HGNC:19034)
|
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
(MONDO_0032648)
|
Limited
|
|
|
AP1S3
(HGNC:18971)
|
psoriasis 14, pustular
(MONDO_0013626)
|
Moderate
|
|
|
AP1S3
(HGNC:18971)
|
pustulosis palmaris et plantaris
(MONDO_0015597)
|
Limited
|
|
|
TDP1
(HGNC:18884)
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
(MONDO_0011801)
|
Strong
|
|
|
IFIH1
(HGNC:18873)
|
Aicardi-Goutieres syndrome 7
(MONDO_0014367)
|
Strong
|
|
|
IFIH1
(HGNC:18873)
|
Singleton-Merten syndrome 1
(MONDO_0024535)
|
Strong
|
|
|
IFIH1
(HGNC:18873)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Strong
|
|
|
IFIH1
(HGNC:18873)
|
Singleton-Merten dysplasia
(MONDO_0008429)
|
Strong
|
|
|
MMAA
(HGNC:18871)
|
methylmalonic aciduria, cblA type
(MONDO_0009613)
|
Definitive
|
|
|
KCNT1
(HGNC:18865)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Strong
|
|
|
CREB3L3
(HGNC:18855)
|
hypertriglyceridemia
(MONDO_0005347)
|
Moderate
|
|
|
KCNT1
(HGNC:18865)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Definitive
|
|
|
CFTR
(HGNC:1884)
|
congenital bilateral absence of vas deferens
(MONDO_0018801)
|
Strong
|
|
|
CFTR
(HGNC:1884)
|
cystic fibrosis
(MONDO_0009061)
|
Definitive
|
|
|
LDLRAP1
(HGNC:18640)
|
homozygous familial hypercholesterolemia
(MONDO_0018328)
|
Strong
|
|
|
COG8
(HGNC:18623)
|
COG8-congenital disorder of glycosylation
(MONDO_0012635)
|
Limited
|
|
|
CDK5RAP2
(HGNC:18672)
|
corpus callosum, agenesis of
(MONDO_0009022)
|
Limited
|
|
|
CFTR
(HGNC:1884)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Limited
|
|
|
PPP1R13L
(HGNC:18838)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|