|
RXYLT1
(HGNC:13530)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Moderate
|
|
|
ZBTB20
(HGNC:13503)
|
Primrose syndrome
(MONDO_0009798)
|
Strong
|
|
|
SAMD9
(HGNC:1348)
|
normophosphatemic familial tumoral calcinosis
(MONDO_0012502)
|
Moderate
|
|
|
VPS35
(HGNC:13487)
|
Parkinson disease 17
(MONDO_0013625)
|
Strong
|
|
|
USP27X
(HGNC:13486)
|
X-linked intellectual disability
(MONDO_0100284)
|
Moderate
|
|
|
SLC2A9
(HGNC:13446)
|
hypouricemia, renal, 2
(MONDO_0012793)
|
Strong
|
|
|
C7
(HGNC:1346)
|
complement component 7 deficiency
(MONDO_0012412)
|
Definitive
|
|
|
SLC2A9
(HGNC:13446)
|
hereditary renal hypouricemia
(MONDO_0009071)
|
Strong
|
|
|
SLC2A10
(HGNC:13444)
|
arterial tortuosity syndrome
(MONDO_0008818)
|
Definitive
|
|
|
TRAF3IP2
(HGNC:1343)
|
chronic mucocutaneous candidiasis
(MONDO_0015279)
|
Moderate
|
|
|
RPGRIP1
(HGNC:13436)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
RPGRIP1
(HGNC:13436)
|
cone-rod dystrophy
(MONDO_0015993)
|
Moderate
|
|
|
RPGRIP1
(HGNC:13436)
|
Leber congenital amaurosis 6
(MONDO_0013446)
|
Strong
|
|
|
RLIM
(HGNC:13429)
|
intellectual disability, X-linked 61
(MONDO_0010506)
|
Strong
|
|
|
NEK8
(HGNC:13387)
|
renal-hepatic-pancreatic dysplasia 2
(MONDO_0014174)
|
Moderate
|
|
|
NSDHL
(HGNC:13398)
|
CK syndrome
(MONDO_0010441)
|
Strong
|
|
|
NEK8
(HGNC:13387)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Moderate
|
|
|
KDM3B
(HGNC:1337)
|
Diets-Jongmans syndrome
(MONDO_0030012)
|
Moderate
|
|
|
MCOLN1
(HGNC:13356)
|
Lisch epithelial corneal dystrophy
(MONDO_0010425)
|
Moderate
|
|
|
C5
(HGNC:1331)
|
complement component 5 deficiency
(MONDO_0012295)
|
Strong
|
|