|
SLCO1B7
(HGNC:32934)
|
schizophrenia
(MONDO_0005090)
|
Disputed
|
|
|
MED11
(HGNC:32687)
|
neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
(MONDO_0957225)
|
Moderate
|
|
|
AGO1
(HGNC:3262)
|
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
(MONDO_0859531)
|
Strong
|
|
|
EIF2S3
(HGNC:3267)
|
MEHMO syndrome
(MONDO_0010258)
|
Strong
|
|
|
AGO2
(HGNC:3263)
|
Lessel-Kreienkamp syndrome
(MONDO_0030897)
|
Strong
|
|
|
AGPAT2
(HGNC:325)
|
congenital generalized lipodystrophy type 1
(MONDO_0012071)
|
Definitive
|
|
|
EIF2B5
(HGNC:3261)
|
leukoencephalopathy with vanishing white matter 5
(MONDO_0957873)
|
Strong
|
|
|
EHHADH
(HGNC:3247)
|
primary Fanconi syndrome
(MONDO_0007600)
|
Moderate
|
|
|
AGPAT2
(HGNC:325)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Limited
|
|
|
ANKDD1B
(HGNC:32525)
|
ankylosing spondylitis
(MONDO_0005306)
|
Limited
|
|
|
ALG11
(HGNC:32456)
|
ALG11-congenital disorder of glycosylation
(MONDO_0013349)
|
Strong
|
|
|
SLC38A8
(HGNC:32434)
|
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
(MONDO_0012216)
|
Strong
|
|
|
EGR2
(HGNC:3239)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
EGR2
(HGNC:3239)
|
Charcot-Marie-Tooth disease type 1D
(MONDO_0011890)
|
Strong
|
|
|
EGR2
(HGNC:3239)
|
Charcot-Marie-Tooth disease type 4E
(MONDO_0011527)
|
Strong
|
|
|
EGR2
(HGNC:3239)
|
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
|
Strong
|
|
|
MEGF8
(HGNC:3233)
|
Carpenter syndrome
(MONDO_0019012)
|
Strong
|
|
|
EFEMP2
(HGNC:3219)
|
thoracic aortic aneurysm
(MONDO_0005396)
|
Limited
|
|
|
EFEMP1
(HGNC:3218)
|
Doyne honeycomb retinal dystrophy
(MONDO_0007471)
|
Strong
|
|
|
EEF2
(HGNC:3214)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|