|
CD19
(HGNC:1633)
|
common variable immunodeficiency
(MONDO_0015517)
|
Moderate
|
|
|
UPB1
(HGNC:16297)
|
beta-ureidopropionase deficiency
(MONDO_0013164)
|
Moderate
|
|
|
NFU1
(HGNC:16287)
|
multiple mitochondrial dysfunctions syndrome 1
(MONDO_0011582)
|
Strong
|
|
|
PNPLA6
(HGNC:16268)
|
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
(MONDO_0010152)
|
Strong
|
|
|
PNPLA6
(HGNC:16268)
|
hereditary spastic paraplegia 39
(MONDO_0012787)
|
Limited
|
|
|
PNPLA6
(HGNC:16268)
|
Laurence-Moon syndrome
(MONDO_0009514)
|
Moderate
|
|
|
PNPLA6
(HGNC:16268)
|
cerebellar ataxia-hypogonadism syndrome
(MONDO_0008935)
|
Strong
|
|
|
SLC19A3
(HGNC:16266)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
SUN5
(HGNC:16252)
|
spermatogenic failure 16
(MONDO_0014961)
|
Strong
|
|
|
MYLK2
(HGNC:16243)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
DNAJC5
(HGNC:16235)
|
adult neuronal ceroid lipofuscinosis
(MONDO_0019260)
|
Strong
|
|
|
DNAJC5
(HGNC:16235)
|
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
(MONDO_0008083)
|
Strong
|
|
|
MGME1
(HGNC:16205)
|
mitochondrial DNA depletion syndrome 11
(MONDO_0014039)
|
Moderate
|
|
|
ACTL7A
(HGNC:161)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
TP53RK
(HGNC:16197)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Strong
|
|
|
RSPO4
(HGNC:16175)
|
nonsyndromic congenital nail disorder 4
(MONDO_0008798)
|
Strong
|
|
|
SLC17A9
(HGNC:16192)
|
disseminated superficial actinic porokeratosis
(MONDO_0019212)
|
Limited
|
|
|
ACTL6B
(HGNC:160)
|
developmental and epileptic encephalopathy, 76
(MONDO_0032768)
|
Strong
|
|
|
TBC1D20
(HGNC:16133)
|
Warburg micro syndrome
(MONDO_0016649)
|
Strong
|
|
|
MCM8
(HGNC:16147)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|