|
ANTXR1
(HGNC:21014)
|
GAPO syndrome
(MONDO_0009263)
|
Strong
|
|
|
ALPK1
(HGNC:20917)
|
retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
(MONDO_0013999)
|
Strong
|
|
|
PHACTR1
(HGNC:20990)
|
developmental and epileptic encephalopathy, 70
(MONDO_0032663)
|
Moderate
|
|
|
PHACTR1
(HGNC:20990)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
SMYD1
(HGNC:20986)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
POLD3
(HGNC:20932)
|
hearing loss disorder
(MONDO_0005365)
|
Limited
|
|
|
BCOR
(HGNC:20893)
|
microphthalmia, syndromic 2
(MONDO_0010261)
|
Definitive
|
|
|
GTDC1
(HGNC:20887)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
BMP10
(HGNC:20869)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Moderate
|
|
|
PLEKHG1
(HGNC:20884)
|
periventricular leukomalacia
(MONDO_0015742)
|
Limited
|
|
|
SLC39A8
(HGNC:20862)
|
SLC39A8-CDG
(MONDO_0014746)
|
Strong
|
|
|
THAP1
(HGNC:20856)
|
torsion dystonia 6
(MONDO_0011264)
|
Strong
|
|
|
SLC39A14
(HGNC:20858)
|
hypermanganesemia with dystonia 2
(MONDO_0014864)
|
Limited
|
|
|
CLPP
(HGNC:2084)
|
Perrault syndrome 3
(MONDO_0013588)
|
Strong
|
|
|
TPCN2
(HGNC:20820)
|
albinism
(MONDO_0043209)
|
Limited
|
|
|
SLC35D1
(HGNC:20800)
|
schneckenbecken dysplasia
(MONDO_0010013)
|
Strong
|
|
|
CLN8
(HGNC:2079)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Strong
|
|
|
CLN8
(HGNC:2079)
|
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
(MONDO_0012391)
|
Strong
|
|
|
CLN8
(HGNC:2079)
|
neuronal ceroid lipofuscinosis 8
(MONDO_0010830)
|
Moderate
|
|
|
CLN8
(HGNC:2079)
|
autism spectrum disorder
(MONDO_0005258)
|
Disputed
|
|