|
MYOZ2
(HGNC:1330)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
HDAC8
(HGNC:13315)
|
Cornelia de Lange syndrome 5
(MONDO_0010471)
|
Strong
|
|
|
ACTB
(HGNC:132)
|
Baraitser-Winter syndrome 1
(MONDO_0009470)
|
Strong
|
|
|
DUOX2
(HGNC:13273)
|
familial thyroid dyshormonogenesis
(MONDO_0010132)
|
Strong
|
|
|
LMBR1
(HGNC:13243)
|
triphalangeal thumb-polysyndactyly syndrome
(MONDO_0017454)
|
Strong
|
|
|
TIMMDC1
(HGNC:1321)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
C4A
(HGNC:1323)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
TIMMDC1
(HGNC:1321)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Moderate
|
|
|
BCL11A
(HGNC:13221)
|
Dias-Logan syndrome
(MONDO_0014914)
|
Strong
|
|
|
ADAMTS9
(HGNC:13202)
|
ciliopathy
(MONDO_0005308)
|
Moderate
|
|
|
BCL11B
(HGNC:13222)
|
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
(MONDO_0060763)
|
Strong
|
|
|
ARL6
(HGNC:13210)
|
Bardet-Biedl syndrome 3
(MONDO_0010832)
|
Strong
|
|
|
C3
(HGNC:1318)
|
C3 glomerulonephritis
(MONDO_0013892)
|
Limited
|
|
|
ARL6
(HGNC:13210)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
AICDA
(HGNC:13203)
|
hyper-IgM syndrome type 2
(MONDO_0011528)
|
Definitive
|
|
|
ZNF81
(HGNC:13156)
|
X-linked intellectual disability
(MONDO_0100284)
|
Disputed
|
|
|
C3
(HGNC:1318)
|
complement component 3 deficiency
(MONDO_0013417)
|
Strong
|
|
|
SCAPER
(HGNC:13081)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
CBY1
(HGNC:1307)
|
Joubert syndrome
(MONDO_0018772)
|
Moderate
|
|
|
ZNF219
(HGNC:13011)
|
microphthalmia
(MONDO_0021129)
|
Limited
|
|