|
USP45
(HGNC:20080)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Limited
|
|
|
GREM1
(HGNC:2001)
|
hereditary mixed polyposis syndrome
(MONDO_0011023)
|
Strong
|
|
|
CYCS
(HGNC:19986)
|
thrombocytopenia 4
(MONDO_0012775)
|
Strong
|
|
|
RDH12
(HGNC:19977)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
RDH12
(HGNC:19977)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CCDC88C
(HGNC:19967)
|
spinocerebellar ataxia type 40
(MONDO_0014475)
|
Moderate
|
|
|
TTLL5
(HGNC:19963)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
KIAA0586
(HGNC:19960)
|
Joubert syndrome 23
(MONDO_0014664)
|
Moderate
|
|
|
KIAA0586
(HGNC:19960)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
SLC25A22
(HGNC:19954)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Moderate
|
|
|
SLC25A22
(HGNC:19954)
|
early myoclonic encephalopathy
(MONDO_0016022)
|
Moderate
|
|
|
TRAPPC4
(HGNC:19943)
|
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
(MONDO_0032894)
|
Moderate
|
|
|
CIT
(HGNC:1985)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
ISCA2
(HGNC:19857)
|
multiple mitochondrial dysfunctions syndrome 4
(MONDO_0014611)
|
Strong
|
|
|
VSX2
(HGNC:1975)
|
microphthalmia
(MONDO_0021129)
|
Moderate
|
|
|
TTC7A
(HGNC:19750)
|
multiple intestinal atresia
(MONDO_0009465)
|
Strong
|
|
|
CHUK
(HGNC:1974)
|
cocoon syndrome
(MONDO_0013334)
|
Limited
|
|
|
EVC2
(HGNC:19747)
|
acrofacial dysostosis, Weyers type
(MONDO_0008673)
|
Strong
|
|
|
POMT2
(HGNC:19743)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Strong
|
|
|
POMT2
(HGNC:19743)
|
autosomal recessive limb-girdle muscular dystrophy type 2N
(MONDO_0013162)
|
Strong
|
|