|
PNPT1
(HGNC:23166)
|
combined oxidative phosphorylation defect type 13
(MONDO_0013977)
|
Strong
|
|
|
PNPT1
(HGNC:23166)
|
spinocerebellar ataxia type 25
(MONDO_0012103)
|
Limited
|
|
|
PNPT1
(HGNC:23166)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
PNPT1
(HGNC:23166)
|
hearing loss disorder
(MONDO_0005365)
|
Moderate
|
|
|
ALG8
(HGNC:23161)
|
ALG8-congenital disorder of glycosylation
(MONDO_0011969)
|
Strong
|
|
|
ALG2
(HGNC:23159)
|
ALG2-congenital disorder of glycosylation
(MONDO_0011933)
|
Moderate
|
|
|
FAT4
(HGNC:23109)
|
van Maldergem syndrome
(MONDO_0017813)
|
Moderate
|
|
|
UNC13D
(HGNC:23147)
|
familial hemophagocytic lymphohistiocytosis 3
(MONDO_0012146)
|
Definitive
|
|
|
CPN1
(HGNC:2312)
|
carboxypeptidase N deficiency
(MONDO_0008910)
|
Limited
|
|
|
SLC13A5
(HGNC:23089)
|
developmental and epileptic encephalopathy, 25
(MONDO_0014392)
|
Strong
|
|
|
FAT4
(HGNC:23109)
|
Hennekam syndrome
(MONDO_0016256)
|
Strong
|
|
|
SLC29A3
(HGNC:23096)
|
dysosteosclerosis
(MONDO_0009138)
|
Moderate
|
|
|
SLC13A5
(HGNC:23089)
|
amelocerebrohypohidrotic syndrome
(MONDO_0009185)
|
Moderate
|
|
|
SLC10A7
(HGNC:23088)
|
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
(MONDO_0032703)
|
Strong
|
|
|
LMBRD1
(HGNC:23038)
|
methylmalonic aciduria and homocystinuria type cblF
(MONDO_0010183)
|
Strong
|
|
|
PDSS2
(HGNC:23041)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
CPE
(HGNC:2303)
|
BDV syndrome
(MONDO_0859150)
|
Moderate
|
|
|
NLRP7
(HGNC:22947)
|
complete hydatidiform mole
(MONDO_0016785)
|
Strong
|
|
|
GMPPB
(HGNC:22932)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Strong
|
|
|
COL27A1
(HGNC:22986)
|
Steel syndrome
(MONDO_0014061)
|
Strong
|
|