|
SLX4
(HGNC:23845)
|
Fanconi anemia
(MONDO_0019391)
|
Moderate
|
|
|
CRYAB
(HGNC:2389)
|
fatal infantile hypertonic myofibrillar myopathy
(MONDO_0013472)
|
Limited
|
|
|
SLX4
(HGNC:23845)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
ASXL2
(HGNC:23805)
|
Shashi-Pena syndrome
(MONDO_0014963)
|
Strong
|
|
|
CRX
(HGNC:2383)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ADCY6
(HGNC:237)
|
lethal congenital contracture syndrome 8
(MONDO_0014570)
|
Moderate
|
|
|
CRTAP
(HGNC:2379)
|
osteogenesis imperfecta type 7
(MONDO_0012536)
|
Moderate
|
|
|
PACS2
(HGNC:23794)
|
developmental and epileptic encephalopathy, 66
(MONDO_0054845)
|
Moderate
|
|
|
CRTAP
(HGNC:2379)
|
osteogenesis imperfecta type 3
(MONDO_0009804)
|
Limited
|
|
|
PIKFYVE
(HGNC:23785)
|
fleck corneal dystrophy
(MONDO_0007376)
|
Strong
|
|
|
MED27
(HGNC:2377)
|
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
(MONDO_0859137)
|
Limited
|
|
|
PTF1A
(HGNC:23734)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Moderate
|
|
|
PTF1A
(HGNC:23734)
|
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
(MONDO_0012192)
|
Limited
|
|
|
PGAP3
(HGNC:23719)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Strong
|
|
|
PTF1A
(HGNC:23734)
|
pancreatic agenesis
(MONDO_0009832)
|
Strong
|
|
|
PGAP3
(HGNC:23719)
|
hyperphosphatasia with intellectual disability syndrome 4
(MONDO_0014318)
|
Strong
|
|
|
TTC12
(HGNC:23700)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
ADCY5
(HGNC:236)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
GPR161
(HGNC:23694)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Limited
|
|
|
GNE
(HGNC:23657)
|
sialuria
(MONDO_0010028)
|
Moderate
|
|