|
PACS1
(HGNC:30032)
|
Schuurs-Hoeijmakers syndrome
(MONDO_0014006)
|
Definitive
|
|
|
ABCA1
(HGNC:29)
|
Tangier disease
(MONDO_0008783)
|
Definitive
|
|
|
COASY
(HGNC:29932)
|
pontocerebellar hypoplasia, type 12
(MONDO_0032643)
|
Strong
|
|
|
DPAGT1
(HGNC:2995)
|
DPAGT1-congenital disorder of glycosylation
(MONDO_0011964)
|
Definitive
|
|
|
NDUFAF3
(HGNC:29918)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Moderate
|
|
|
SPATA16
(HGNC:29935)
|
spermatogenic failure 6
(MONDO_0007060)
|
Limited
|
|
|
COASY
(HGNC:29932)
|
neurodegeneration with brain iron accumulation 6
(MONDO_0014290)
|
Moderate
|
|
|
NDUFAF3
(HGNC:29918)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
NUP107
(HGNC:29914)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Moderate
|
|
|
MDM1
(HGNC:29917)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
NUP107
(HGNC:29914)
|
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
|
Moderate
|
|
|
HECW2
(HGNC:29853)
|
neurodevelopmental disorder with hypotonia, seizures, and absent language
(MONDO_0014995)
|
Moderate
|
|
|
NSMF
(HGNC:29843)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Limited
|
|
|
NUP107
(HGNC:29914)
|
46 XX gonadal dysgenesis
(MONDO_0009299)
|
Moderate
|
|
|
MYLK3
(HGNC:29826)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
NADSYN1
(HGNC:29832)
|
congenital vertebral-cardiac-renal anomalies syndrome
(MONDO_0020831)
|
Moderate
|
|
|
DNMT3B
(HGNC:2979)
|
facioscapulohumeral muscular dystrophy
(MONDO_0001347)
|
Limited
|
|
|
DCPS
(HGNC:29812)
|
Al-Raqad syndrome
(MONDO_0014648)
|
Moderate
|
|
|
DNMT3B
(HGNC:2979)
|
immunodeficiency-centromeric instability-facial anomalies syndrome
(MONDO_0000133)
|
Strong
|
|
|
DNMT1
(HGNC:2976)
|
autosomal dominant cerebellar ataxia, deafness and narcolepsy
(MONDO_0011397)
|
Strong
|
|