|
ALG13
(HGNC:30881)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
PDGFD
(HGNC:30620)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Limited
|
|
|
ALG13
(HGNC:30881)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Limited
|
|
|
ALG13
(HGNC:30881)
|
developmental and epileptic encephalopathy, 36
(MONDO_0010472)
|
Strong
|
|
|
SNRNP200
(HGNC:30859)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
POC1B
(HGNC:30836)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
TRAPPC9
(HGNC:30832)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Strong
|
|
|
TUBB2B
(HGNC:30829)
|
congenital fibrosis of extraocular muscles
(MONDO_0007614)
|
Moderate
|
|
|
CEP57
(HGNC:30794)
|
mosaic variegated aneuploidy syndrome 2
(MONDO_0013582)
|
Strong
|
|
|
TM9SF4
(HGNC:30797)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
CEP57
(HGNC:30794)
|
mosaic variegated aneuploidy syndrome
(MONDO_0000141)
|
Strong
|
|
|
GATAD2B
(HGNC:30778)
|
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
(MONDO_0014034)
|
Strong
|
|
|
TMEM165
(HGNC:30760)
|
TMEM165-congenital disorder of glycosylation
(MONDO_0013870)
|
Strong
|
|
|
DUSP6
(HGNC:3072)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
DUSP6
(HGNC:3072)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Limited
|
|
|
PPP1R21
(HGNC:30595)
|
neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
(MONDO_0859165)
|
Moderate
|
|
|
DNAJB13
(HGNC:30718)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
TSHZ3
(HGNC:30700)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Moderate
|
|
|
DTYMK
(HGNC:3061)
|
mitochondrial DNA depletion syndrome
(MONDO_0018158)
|
Limited
|
|
|
UBA2
(HGNC:30661)
|
ACCES syndrome
(MONDO_0859262)
|
Moderate
|
|