|
VPS13A
(HGNC:1908)
|
chorea-acanthocytosis
(MONDO_0008695)
|
Definitive
|
|
|
ASPM
(HGNC:19048)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Definitive
|
|
|
KCNT1
(HGNC:18865)
|
epilepsy of infancy with migrating focal seizures
(MONDO_0100025)
|
Definitive
|
|
|
NAA10
(HGNC:18704)
|
Ogden syndrome
(MONDO_0010457)
|
Strong
|
|
|
ADA
(HGNC:186)
|
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
(MONDO_0007064)
|
Definitive
|
|
|
ADA
(HGNC:186)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Definitive
|
|
|
DDX41
(HGNC:18674)
|
acute myeloid leukemia
(MONDO_0018874)
|
Definitive
|
|
|
DEPDC5
(HGNC:18423)
|
familial focal epilepsy with variable foci
(MONDO_0020310)
|
Definitive
|
|
|
LDLRAP1
(HGNC:18640)
|
hypercholesterolemia, familial, 4
(MONDO_0011374)
|
Definitive
|
|
|
DEPDC5
(HGNC:18423)
|
focal epilepsy
(MONDO_0005384)
|
Definitive
|
|
|
ADA2
(HGNC:1839)
|
deficiency of adenosine deaminase 2
(MONDO_0100317)
|
Definitive
|
|
|
ADA2
(HGNC:1839)
|
polyarteritis nodosa
(MONDO_0019170)
|
Definitive
|
|
|
ADA2
(HGNC:1839)
|
vasculitis due to ADA2 deficiency
(MONDO_0014306)
|
Definitive
|
|
|
FKBP10
(HGNC:18169)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Definitive
|
|
|
FKBP10
(HGNC:18169)
|
Bruck syndrome
(MONDO_0017195)
|
Strong
|
|
|
TNFRSF13B
(HGNC:18153)
|
common variable immunodeficiency
(MONDO_0015517)
|
Moderate
|
|
|
MFRP
(HGNC:18121)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
CDSN
(HGNC:1802)
|
peeling skin syndrome 1
(MONDO_0024548)
|
Strong
|
|
|
NAGS
(HGNC:17996)
|
hyperammonemia due to N-acetylglutamate synthase deficiency
(MONDO_0009377)
|
Definitive
|
|
|
NAGS
(HGNC:17996)
|
urea cycle disorder
(MONDO_0004739)
|
Strong
|
|