|
CYBRD1
(HGNC:20797)
|
hereditary hemochromatosis
(MONDO_0006507)
|
Disputed
|
|
|
RHBDF2
(HGNC:20788)
|
palmoplantar keratoderma-esophageal carcinoma syndrome
(MONDO_0007856)
|
Strong
|
|
|
CLN6
(HGNC:2077)
|
ceroid lipofuscinosis, neuronal, 6A
(MONDO_0011144)
|
Limited
|
|
|
FANCL
(HGNC:20748)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
TXNDC15
(HGNC:20652)
|
Meckel syndrome
(MONDO_0018921)
|
Moderate
|
|
|
CHD7
(HGNC:20626)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
TPP1
(HGNC:2073)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
TUBB
(HGNC:20778)
|
multiple benign circumferential skin creases on limbs
(MONDO_0007990)
|
Moderate
|
|
|
TUBB3
(HGNC:20772)
|
complex cortical dysplasia with other brain malformations 1
(MONDO_0013541)
|
Strong
|
|
|
TUBB4A
(HGNC:20774)
|
torsion dystonia 4
(MONDO_0007493)
|
Moderate
|
|
|
TUBB3
(HGNC:20772)
|
congenital fibrosis of extraocular muscles
(MONDO_0007614)
|
Strong
|
|
|
TUBB4B
(HGNC:20771)
|
Leber congenital amaurosis with early-onset deafness
(MONDO_0060650)
|
Moderate
|
|
|
CHD7
(HGNC:20626)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Moderate
|
|
|
CLN5
(HGNC:2076)
|
neuronal ceroid lipofuscinosis 5
(MONDO_0009745)
|
Strong
|
|
|
ZFYVE26
(HGNC:20761)
|
hereditary spastic paraplegia 15
(MONDO_0010044)
|
Strong
|
|
|
PDLIM3
(HGNC:20767)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
PDLIM3
(HGNC:20767)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
SLC25A26
(HGNC:20661)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
SLC9A9
(HGNC:20653)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
CLN3
(HGNC:2074)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Limited
|
|