|
EEF2
(HGNC:3214)
|
spinocerebellar ataxia type 26
(MONDO_0012246)
|
Limited
|
|
|
ACAN
(HGNC:319)
|
osteochondritis dissecans
(MONDO_0017178)
|
Moderate
|
|
|
ACAN
(HGNC:319)
|
spondyloepimetaphyseal dysplasia, aggrecan type
(MONDO_0013014)
|
Moderate
|
|
|
ACAN
(HGNC:319)
|
spondyloepiphyseal dysplasia, Kimberley type
(MONDO_0012019)
|
Moderate
|
|
|
CEACAM16
(HGNC:31948)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Moderate
|
|
|
LCA5
(HGNC:31923)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
LCA5
(HGNC:31923)
|
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
|
Strong
|
|
|
EED
(HGNC:3188)
|
Cohen-Gibson syndrome
(MONDO_0060510)
|
Strong
|
|
|
EED
(HGNC:3188)
|
Weaver syndrome
(MONDO_0010193)
|
Strong
|
|
|
EDNRB
(HGNC:3180)
|
ABCD syndrome
(MONDO_0010895)
|
Limited
|
|
|
EDNRA
(HGNC:3179)
|
mandibulofacial dysostosis with alopecia
(MONDO_0014608)
|
Strong
|
|
|
EDNRA
(HGNC:3179)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
EDN3
(HGNC:3178)
|
Waardenburg syndrome
(MONDO_0018094)
|
Limited
|
|
|
SAMD12
(HGNC:31750)
|
benign adult familial myoclonic epilepsy
(MONDO_0019448)
|
Strong
|
|
|
EDN1
(HGNC:3176)
|
auriculocondylar syndrome
(MONDO_0000107)
|
Moderate
|
|
|
AFG3L2
(HGNC:315)
|
spastic ataxia 5
(MONDO_0013776)
|
Strong
|
|
|
SAMD12
(HGNC:31750)
|
epilepsy, familial adult myoclonic, 1
(MONDO_0010985)
|
Limited
|
|
|
AFG3L2
(HGNC:315)
|
spinocerebellar ataxia type 28
(MONDO_0012450)
|
Strong
|
|
|
ECHS1
(HGNC:3151)
|
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
(MONDO_0014563)
|
Definitive
|
|
|
EDA
(HGNC:3157)
|
tooth agenesis
(MONDO_0005486)
|
Strong
|
|