|
EMC10
(HGNC:27609)
|
neurodevelopmental disorder with dysmorphic facies and variable seizures
(MONDO_0031011)
|
Strong
|
|
|
TSEN54
(HGNC:27561)
|
pontocerebellar hypoplasia type 2
(MONDO_0016759)
|
Strong
|
|
|
TSEN54
(HGNC:27561)
|
pontocerebellar hypoplasia type 2A
(MONDO_0010190)
|
Strong
|
|
|
DDX3X
(HGNC:2745)
|
Toriello-Carey syndrome
(MONDO_0009021)
|
Limited
|
|
|
RBM20
(HGNC:27424)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
TECRL
(HGNC:27365)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Moderate
|
|
|
ANO5
(HGNC:27337)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Strong
|
|
|
ANO5
(HGNC:27337)
|
autosomal recessive limb-girdle muscular dystrophy type 2L
(MONDO_0012652)
|
Strong
|
|
|
ANO5
(HGNC:27337)
|
gnathodiaphyseal dysplasia
(MONDO_0008151)
|
Strong
|
|
|
DDR2
(HGNC:2731)
|
warburg-cinotti syndrome
(MONDO_0032579)
|
Strong
|
|
|
FLCN
(HGNC:27310)
|
familial spontaneous pneumothorax
(MONDO_0008259)
|
Definitive
|
|
|
FLCN
(HGNC:27310)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
IBA57
(HGNC:27302)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
IBA57
(HGNC:27302)
|
multiple mitochondrial dysfunctions syndrome 3
(MONDO_0014132)
|
Strong
|
|
|
DDOST
(HGNC:2728)
|
DDOST-congenital disorder of glycosylation
(MONDO_0013789)
|
Moderate
|
|
|
ACSF3
(HGNC:27288)
|
combined malonic and methylmalonic acidemia
(MONDO_0013661)
|
Strong
|
|
|
DDB2
(HGNC:2718)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Strong
|
|
|
DDB2
(HGNC:2718)
|
xeroderma pigmentosum group E
(MONDO_0010213)
|
Moderate
|
|
|
DCTN1
(HGNC:2711)
|
neuronopathy, distal hereditary motor, type 7B
(MONDO_0011879)
|
Moderate
|
|
|
DCTN1
(HGNC:2711)
|
Perry syndrome
(MONDO_0008201)
|
Definitive
|
|