|
WDR13
(HGNC:14352)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
MRTFA
(HGNC:14334)
|
immunodeficiency 66
(MONDO_0030013)
|
Moderate
|
|
|
EDARADD
(HGNC:14341)
|
tooth agenesis
(MONDO_0005486)
|
Limited
|
|
|
IRF2BPL
(HGNC:14282)
|
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
(MONDO_0060759)
|
Strong
|
|
|
PCDH19
(HGNC:14270)
|
developmental and epileptic encephalopathy, 9
(MONDO_0010246)
|
Definitive
|
|
|
AUTS2
(HGNC:14262)
|
autism spectrum disorder due to AUTS2 deficiency
(MONDO_0014361)
|
Strong
|
|
|
RAB18
(HGNC:14244)
|
Warburg micro syndrome
(MONDO_0016649)
|
Strong
|
|
|
RAB23
(HGNC:14263)
|
RAB23-related Carpenter syndrome
(MONDO_0008710)
|
Moderate
|
|
|
JPH3
(HGNC:14203)
|
Huntington disease-like 2
(MONDO_0011671)
|
Strong
|
|
|
JPH2
(HGNC:14202)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
JPH2
(HGNC:14202)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
ELAC2
(HGNC:14198)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
PIGQ
(HGNC:14135)
|
developmental and epileptic encephalopathy, 77
(MONDO_0032808)
|
Limited
|
|
|
EHMT2
(HGNC:14129)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
DOCK9
(HGNC:14132)
|
keratoconus
(MONDO_0015486)
|
Limited
|
|
|
NPRL3
(HGNC:14124)
|
familial focal epilepsy with variable foci
(MONDO_0020310)
|
Moderate
|
|
|
NPRL3
(HGNC:14124)
|
focal epilepsy
(MONDO_0005384)
|
Strong
|
|
|
XPO7
(HGNC:14108)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
BACH2
(HGNC:14078)
|
immunodeficiency 60
(MONDO_0032723)
|
Moderate
|
|
|
HDAC4
(HGNC:14063)
|
2q37 microdeletion syndrome
(MONDO_0010886)
|
Strong
|
|