|
TYMP
(HGNC:3148)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
WDR37
(HGNC:31406)
|
neurooculocardiogenitourinary syndrome
(MONDO_0032850)
|
Strong
|
|
|
GPR179
(HGNC:31371)
|
congenital stationary night blindness
(MONDO_0016293)
|
Strong
|
|
|
LEFTY2
(HGNC:3122)
|
visceral heterotaxy
(MONDO_0018677)
|
Limited
|
|
|
LEFTY2
(HGNC:3122)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
GREB1L
(HGNC:31042)
|
hearing loss, autosomal dominant 80
(MONDO_0030998)
|
Moderate
|
|
|
GREB1L
(HGNC:31042)
|
renal hypodysplasia/aplasia 3
(MONDO_0024520)
|
Moderate
|
|
|
GREB1L
(HGNC:31042)
|
renal agenesis, unilateral
(MONDO_0019636)
|
Limited
|
|
|
GREB1L
(HGNC:31042)
|
bilateral renal agenesis
(MONDO_0015986)
|
Moderate
|
|
|
TOR1A
(HGNC:3098)
|
early-onset generalized limb-onset dystonia
(MONDO_0007492)
|
Definitive
|
|
|
DYSF
(HGNC:3097)
|
qualitative or quantitative defects of dysferlin
(MONDO_0016145)
|
Definitive
|
|
|
DYSF
(HGNC:3097)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Definitive
|
|
|
DYSF
(HGNC:3097)
|
Miyoshi myopathy
(MONDO_0009685)
|
Definitive
|
|
|
DYSF
(HGNC:3097)
|
distal myopathy with anterior tibial onset
(MONDO_0011721)
|
Strong
|
|
|
DYSF
(HGNC:3097)
|
autosomal recessive limb-girdle muscular dystrophy type 2B
(MONDO_0009676)
|
Definitive
|
|
|
DYRK1B
(HGNC:3092)
|
abdominal obesity-metabolic syndrome 3
(MONDO_0014352)
|
Moderate
|
|
|
SLC6A20
(HGNC:30927)
|
hyperglycinuria
(MONDO_0007677)
|
Limited
|
|
|
ATP5MK
(HGNC:30889)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
TMEM126B
(HGNC:30883)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
TMEM126B
(HGNC:30883)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|