|
KIF7
(HGNC:30497)
|
acrocallosal syndrome
(MONDO_0008708)
|
Strong
|
|
|
PIGP
(HGNC:3046)
|
developmental and epileptic encephalopathy, 55
(MONDO_0033364)
|
Limited
|
|
|
SHROOM3
(HGNC:30422)
|
neural tube defect
(MONDO_0018075)
|
Limited
|
|
|
AEBP1
(HGNC:303)
|
Ehlers-Danlos syndrome, classic-like, 2
(MONDO_0054813)
|
Strong
|
|
|
DSCAM
(HGNC:3039)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
IFT172
(HGNC:30391)
|
Jeune syndrome
(MONDO_0018770)
|
Limited
|
|
|
IFT172
(HGNC:30391)
|
short-rib thoracic dysplasia 9 with or without polydactyly
(MONDO_0009964)
|
Moderate
|
|
|
SCAMP5
(HGNC:30386)
|
epilepsy
(MONDO_0005027)
|
Moderate
|
|
|
KLHL40
(HGNC:30372)
|
nemaline myopathy 8
(MONDO_0014138)
|
Strong
|
|
|
POLR3B
(HGNC:30348)
|
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
(MONDO_0013722)
|
Moderate
|
|
|
ATN1
(HGNC:3033)
|
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
(MONDO_0032781)
|
Limited
|
|
|
RIC3
(HGNC:30338)
|
Parkinson disease
(MONDO_0005180)
|
Disputed
|
|
|
ARHGEF28
(HGNC:30322)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
RGS9BP
(HGNC:30304)
|
bradyopsia
(MONDO_0012033)
|
Limited
|
|
|
DRD5
(HGNC:3026)
|
attention deficit-hyperactivity disorder
(MONDO_0007743)
|
Limited
|
|
|
PYCR2
(HGNC:30262)
|
hypomyelinating leukodystrophy 10
(MONDO_0014632)
|
Strong
|
|
|
PNPO
(HGNC:30260)
|
pyridoxal phosphate-responsive seizures
(MONDO_0012407)
|
Strong
|
|
|
TUSC3
(HGNC:30242)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Moderate
|
|
|
WLS
(HGNC:30238)
|
Zaki syndrome
(MONDO_0859209)
|
Moderate
|
|
|
CC2D1A
(HGNC:30237)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Strong
|
|