|
PMPCA
(HGNC:18667)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
CTHRC1
(HGNC:18831)
|
Barrett esophagus
(MONDO_0013662)
|
Limited
|
|
|
NDUFAF1
(HGNC:18828)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Limited
|
|
|
LIPI
(HGNC:18821)
|
hypertriglyceridemia
(MONDO_0005347)
|
Limited
|
|
|
NDUFAF1
(HGNC:18828)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
CAMTA1
(HGNC:18806)
|
cerebellar dysfunction with variable cognitive and behavioral abnormalities
(MONDO_0013886)
|
Strong
|
|
|
HPS6
(HGNC:18817)
|
Hermansky-Pudlak syndrome 6
(MONDO_0013558)
|
Strong
|
|
|
ZFP57
(HGNC:18791)
|
transient neonatal diabetes mellitus
(MONDO_0020525)
|
Moderate
|
|
|
SLC36A2
(HGNC:18762)
|
iminoglycinuria
(MONDO_0009448)
|
Moderate
|
|
|
BBS7
(HGNC:18758)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
SLC36A2
(HGNC:18762)
|
hyperglycinuria
(MONDO_0007677)
|
Limited
|
|
|
RHOBTB2
(HGNC:18756)
|
developmental and epileptic encephalopathy, 64
(MONDO_0033373)
|
Strong
|
|
|
SLURP1
(HGNC:18746)
|
palmoplantar keratosis
(MONDO_0006590)
|
Moderate
|
|
|
IFT27
(HGNC:18626)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Moderate
|
|
|
DNAI2
(HGNC:18744)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
GRIP1
(HGNC:18708)
|
Fraser syndrome
(MONDO_0009046)
|
Moderate
|
|
|
PMPCA
(HGNC:18667)
|
autosomal recessive spinocerebellar ataxia 2
(MONDO_0008943)
|
Limited
|
|
|
CDK5RAP2
(HGNC:18672)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Strong
|
|
|
NAA10
(HGNC:18704)
|
microphthalmia, syndromic 1
(MONDO_0010671)
|
Moderate
|
|
|
COG6
(HGNC:18621)
|
COG6-congenital disorder of glycosylation
(MONDO_0013810)
|
Strong
|
|