|
PROKR2
(HGNC:15836)
|
septooptic dysplasia
(MONDO_0008428)
|
Disputed
|
|
|
BSCL2
(HGNC:15832)
|
distal hereditary motor neuropathy
(MONDO_0018894)
|
Strong
|
|
|
OVOL2
(HGNC:15804)
|
posterior polymorphous corneal dystrophy
(MONDO_0020364)
|
Moderate
|
|
|
BSCL2
(HGNC:15832)
|
congenital generalized lipodystrophy type 2
(MONDO_0010020)
|
Strong
|
|
|
BSCL2
(HGNC:15832)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Limited
|
|
|
BSCL2
(HGNC:15832)
|
hereditary spastic paraplegia 17
(MONDO_0010043)
|
Moderate
|
|
|
ANKRD1
(HGNC:15819)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
ANKRD1
(HGNC:15819)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
OVOL2
(HGNC:15804)
|
posterior polymorphous corneal dystrophy 1
(MONDO_0007378)
|
Moderate
|
|
|
GATA5
(HGNC:15802)
|
tetralogy of fallot
(MONDO_0008542)
|
Limited
|
|
|
GATA5
(HGNC:15802)
|
familial atrial fibrillation
(MONDO_0018054)
|
Limited
|
|
|
GATA5
(HGNC:15802)
|
familial bicuspid aortic valve
(MONDO_0007194)
|
Limited
|
|
|
ULK4
(HGNC:15784)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
KRIT1
(HGNC:1573)
|
famililal cerebral cavernous malformations
(MONDO_0031037)
|
Definitive
|
|
|
OSBPL2
(HGNC:15761)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Moderate
|
|
|
OBSCN
(HGNC:15719)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
OBSCN
(HGNC:15719)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
GEMIN4
(HGNC:15717)
|
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
(MONDO_0060664)
|
Moderate
|
|
|
LRPPRC
(HGNC:15714)
|
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
(MONDO_0009069)
|
Strong
|
|
|
LRPPRC
(HGNC:15714)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|