|
SLC38A3
(HGNC:18044)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
CDX1
(HGNC:1805)
|
mesenchymal chondrosarcoma
(MONDO_0006853)
|
Limited
|
|
|
ZFAND3
(HGNC:18019)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Moderate
|
|
|
OSGEP
(HGNC:18028)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Strong
|
|
|
BMP2K
(HGNC:18041)
|
developmental dysplasia of the hip
(MONDO_0000158)
|
Limited
|
|
|
NUP160
(HGNC:18017)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Moderate
|
|
|
NUP133
(HGNC:18016)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Moderate
|
|
|
NUP133
(HGNC:18016)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Moderate
|
|
|
NUDT11
(HGNC:18011)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
B3GALT6
(HGNC:17978)
|
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
(MONDO_0010075)
|
Strong
|
|
|
ROBO4
(HGNC:17985)
|
aortic valve disease 3
(MONDO_0032783)
|
Moderate
|
|
|
RDH11
(HGNC:17964)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
PSMC3IP
(HGNC:17928)
|
premature menopause
(MONDO_0001119)
|
Moderate
|
|
|
SLC45A1
(HGNC:17939)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
FHOD1
(HGNC:17905)
|
congenital hypotrichosis with juvenile macular dystrophy
(MONDO_0011107)
|
Refuted
|
|
|
ACY1
(HGNC:177)
|
aminoacylase 1 deficiency
(MONDO_0012368)
|
Moderate
|
|
|
BBC3
(HGNC:17868)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
STK38L
(HGNC:17848)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
STK38L
(HGNC:17848)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ACBD7
(HGNC:17715)
|
anorexia nervosa
(MONDO_0005351)
|
Limited
|
|