|
ASCC1
(HGNC:24268)
|
spinal muscular atrophy with congenital bone fractures 2
(MONDO_0014807)
|
Strong
|
|
|
YARS2
(HGNC:24249)
|
myopathy, lactic acidosis, and sideroblastic anemia 2
(MONDO_0013307)
|
Strong
|
|
|
YARS2
(HGNC:24249)
|
myopathy, lactic acidosis, and sideroblastic anemia
(MONDO_0000863)
|
Strong
|
|
|
GLYCTK
(HGNC:24247)
|
D-glyceric aciduria
(MONDO_0009070)
|
Moderate
|
|
|
CISD2
(HGNC:24212)
|
Wolfram syndrome
(MONDO_0018105)
|
Moderate
|
|
|
CISD2
(HGNC:24212)
|
Wolfram syndrome 2
(MONDO_0011502)
|
Moderate
|
|
|
FAM111B
(HGNC:24200)
|
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
(MONDO_0014310)
|
Strong
|
|
|
BRCC3
(HGNC:24185)
|
Moyamoya disease
(MONDO_0016820)
|
Moderate
|
|
|
PHF21A
(HGNC:24156)
|
intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
(MONDO_0032883)
|
Strong
|
|
|
B9D1
(HGNC:24123)
|
Meckel syndrome
(MONDO_0018921)
|
Moderate
|
|
|
B9D1
(HGNC:24123)
|
Joubert syndrome
(MONDO_0018772)
|
Limited
|
|
|
RNASEH2C
(HGNC:24116)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Strong
|
|
|
SORBS2
(HGNC:24098)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
GALM
(HGNC:24063)
|
galactosemia 4
(MONDO_0030105)
|
Strong
|
|
|
KNL1
(HGNC:24054)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Strong
|
|
|
ADIPOR1
(HGNC:24040)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
CLMP
(HGNC:24039)
|
congenital short bowel syndrome
(MONDO_0014097)
|
Strong
|
|
|
APPL1
(HGNC:24035)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Disputed
|
|
|
APPL1
(HGNC:24035)
|
maturity-onset diabetes of the young type 14
(MONDO_0014674)
|
Limited
|
|
|
ABAT
(HGNC:23)
|
GABA aminotransaminase deficiency
(MONDO_0013166)
|
Strong
|
|