|
CRELD1
(HGNC:14630)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
ADAMTSL2
(HGNC:14631)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Limited
|
|
|
ADAMTSL2
(HGNC:14631)
|
geleophysic dysplasia 1
(MONDO_0009269)
|
Strong
|
|
|
CAMK2A
(HGNC:1460)
|
intellectual disability, autosomal dominant 53
(MONDO_0030919)
|
Strong
|
|
|
CAMK2B
(HGNC:1461)
|
intellectual disability, autosomal dominant 54
(MONDO_0030920)
|
Moderate
|
|
|
ACTG2
(HGNC:145)
|
visceral myopathy 1
(MONDO_0020754)
|
Strong
|
|
|
PINK1
(HGNC:14581)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Strong
|
|
|
ACTG2
(HGNC:145)
|
familial visceral myopathy
(MONDO_0016829)
|
Moderate
|
|
|
PINK1
(HGNC:14581)
|
autosomal recessive early-onset Parkinson disease 6
(MONDO_0011613)
|
Strong
|
|
|
CDHR1
(HGNC:14550)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
CDHR1
(HGNC:14550)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
NPC2
(HGNC:14537)
|
Niemann-Pick disease, type C2
(MONDO_0011873)
|
Strong
|
|
|
ACTG1
(HGNC:144)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
WNK1
(HGNC:14540)
|
hereditary sensory and autonomic neuropathy type 2
(MONDO_0019941)
|
Strong
|
|
|
CALM3
(HGNC:1449)
|
familial long QT syndrome
(MONDO_0019171)
|
Strong
|
|
|
ACTG1
(HGNC:144)
|
Baraitser-winter syndrome 2
(MONDO_0013812)
|
Limited
|
|
|
CALM2
(HGNC:1445)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Strong
|
|
|
SLC26A7
(HGNC:14467)
|
congenital hypothyroidism
(MONDO_0018612)
|
Strong
|
|
|
SLC26A9
(HGNC:14469)
|
cystic fibrosis
(MONDO_0009061)
|
Moderate
|
|
|
CALM3
(HGNC:1449)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Moderate
|
|