|
SPRY4
(HGNC:15533)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
JAM3
(HGNC:15532)
|
porencephaly-microcephaly-bilateral congenital cataract syndrome
(MONDO_0013394)
|
Strong
|
|
|
LPAR6
(HGNC:15520)
|
hypotrichosis simplex
(MONDO_0018914)
|
Strong
|
|
|
LPAR6
(HGNC:15520)
|
hypotrichosis 8
(MONDO_0010206)
|
Strong
|
|
|
LPAR6
(HGNC:15520)
|
isolated familial wooly hair disorder
(MONDO_0008686)
|
Strong
|
|
|
CBS
(HGNC:1550)
|
classic homocystinuria
(MONDO_0009352)
|
Definitive
|
|
|
DCTN4
(HGNC:15518)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
XYLT1
(HGNC:15516)
|
Desbuquois dysplasia
(MONDO_0015426)
|
Strong
|
|
|
XYLT1
(HGNC:15516)
|
Desbuquois dysplasia 2
(MONDO_0014343)
|
Strong
|
|
|
ANKH
(HGNC:15492)
|
chondrocalcinosis 2
(MONDO_0007319)
|
Moderate
|
|
|
PUS1
(HGNC:15508)
|
myopathy, lactic acidosis, and sideroblastic anemia
(MONDO_0000863)
|
Strong
|
|
|
ANKH
(HGNC:15492)
|
craniometaphyseal dysplasia
(MONDO_0015465)
|
Strong
|
|
|
ANKH
(HGNC:15492)
|
craniometaphyseal dysplasia, autosomal dominant
(MONDO_0007397)
|
Moderate
|
|
|
DNAJC6
(HGNC:15469)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Moderate
|
|
|
MBTPS2
(HGNC:15455)
|
keratosis follicularis spinulosa decalvans
(MONDO_0000136)
|
Strong
|
|
|
DIAPH3
(HGNC:15480)
|
auditory neuropathy
(MONDO_0021944)
|
Limited
|
|
|
MBTPS1
(HGNC:15456)
|
spondyloepiphyseal dysplasia, kondo-fu type
(MONDO_0032721)
|
Moderate
|
|
|
MBTPS2
(HGNC:15455)
|
BRESEK syndrome
(MONDO_0019414)
|
Moderate
|
|
|
MBTPS2
(HGNC:15455)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Moderate
|
|
|
SHOC2
(HGNC:15454)
|
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
|
Strong
|
|