|
DICER1
(HGNC:17098)
|
DICER1-related tumor predisposition
(MONDO_0100216)
|
Definitive
|
|
|
DICER1
(HGNC:17098)
|
pleuropulmonary blastoma
(MONDO_0011014)
|
Definitive
|
|
|
LARS2
(HGNC:17095)
|
Perrault syndrome
(MONDO_0017312)
|
Strong
|
|
|
SYNE1
(HGNC:17089)
|
autosomal recessive ataxia, Beauce type
(MONDO_0012549)
|
Strong
|
|
|
ICOSLG
(HGNC:17087)
|
combined immunodeficiency
(MONDO_0015131)
|
Limited
|
|
|
NIPA1
(HGNC:17043)
|
hereditary spastic paraplegia 6
(MONDO_0010878)
|
Strong
|
|
|
MFN2
(HGNC:16877)
|
multiple symmetric lipomatosis
(MONDO_0007908)
|
Moderate
|
|
|
RPH3A
(HGNC:17056)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
EXOSC8
(HGNC:17035)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Moderate
|
|
|
RPH3A
(HGNC:17056)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Limited
|
|
|
HCN4
(HGNC:16882)
|
familial sick sinus syndrome
(MONDO_0012061)
|
Moderate
|
|
|
TNIP1
(HGNC:16903)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
FIG4
(HGNC:16873)
|
amyotrophic lateral sclerosis type 11
(MONDO_0012945)
|
Limited
|
|
|
MFN2
(HGNC:16877)
|
hereditary motor and sensory neuropathy type 6
(MONDO_0019551)
|
Strong
|
|
|
EXOSC8
(HGNC:17035)
|
pontocerebellar hypoplasia, type 1C
(MONDO_0014485)
|
Moderate
|
|
|
FIG4
(HGNC:16873)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
FIG4
(HGNC:16873)
|
Charcot-Marie-Tooth disease type 4J
(MONDO_0012640)
|
Strong
|
|
|
SART3
(HGNC:16860)
|
disseminated superficial actinic porokeratosis
(MONDO_0019212)
|
Limited
|
|
|
MFN2
(HGNC:16877)
|
Charcot-Marie-Tooth disease type 2A2
(MONDO_0012231)
|
Strong
|
|
|
ASTN2
(HGNC:17021)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|