|
KIF17
(HGNC:19167)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
POMGNT1
(HGNC:19139)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CHD1
(HGNC:1915)
|
Pilarowski-Bjornsson syndrome
(MONDO_0060568)
|
Limited
|
|
|
POMGNT1
(HGNC:19139)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Definitive
|
|
|
POMGNT1
(HGNC:19139)
|
autosomal recessive limb-girdle muscular dystrophy type 2O
(MONDO_0013161)
|
Moderate
|
|
|
HS6ST2
(HGNC:19133)
|
Paganini-Miozzo syndrome
(MONDO_0026724)
|
Limited
|
|
|
PSAT1
(HGNC:19129)
|
neurometabolic disorder due to serine deficiency
(MONDO_0018162)
|
Moderate
|
|
|
PSAT1
(HGNC:19129)
|
PSAT deficiency
(MONDO_0012596)
|
Strong
|
|
|
CRB2
(HGNC:18688)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
CRB2
(HGNC:18688)
|
ventriculomegaly-cystic kidney disease
(MONDO_0009063)
|
Moderate
|
|
|
FGD4
(HGNC:19125)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
RTTN
(HGNC:18654)
|
bilateral generalized polymicrogyria
(MONDO_0013907)
|
Limited
|
|
|
PSAT1
(HGNC:19129)
|
Neu-Laxova syndrome
(MONDO_0000179)
|
Strong
|
|
|
NPHP4
(HGNC:19104)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Moderate
|
|
|
FGD4
(HGNC:19125)
|
Charcot-Marie-Tooth disease type 4H
(MONDO_0012250)
|
Strong
|
|
|
RIGI
(HGNC:19102)
|
Singleton-Merten dysplasia
(MONDO_0008429)
|
Strong
|
|
|
NALCN
(HGNC:19082)
|
congenital contractures of the limbs and face, hypotonia, and developmental delay
(MONDO_0014556)
|
Strong
|
|
|
NALCN
(HGNC:19082)
|
Freeman-Sheldon syndrome
(MONDO_0008675)
|
Limited
|
|
|
THOC2
(HGNC:19073)
|
X-linked intellectual disability-short stature-overweight syndrome
(MONDO_0010496)
|
Moderate
|
|
|
GBA2
(HGNC:18986)
|
hereditary spastic paraplegia 46
(MONDO_0013737)
|
Strong
|
|