|
ALOXE3
(HGNC:13743)
|
lamellar ichthyosis
(MONDO_0017778)
|
Strong
|
|
|
ALOXE3
(HGNC:13743)
|
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
|
Strong
|
|
|
ALOXE3
(HGNC:13743)
|
self-healing collodion baby
(MONDO_0017267)
|
Moderate
|
|
|
CDH23
(HGNC:13733)
|
autosomal recessive nonsyndromic hearing loss 12
(MONDO_0011067)
|
Strong
|
|
|
CDH23
(HGNC:13733)
|
Usher syndrome type 1D
(MONDO_0010984)
|
Definitive
|
|
|
CDH23
(HGNC:13733)
|
Usher syndrome type 1
(MONDO_0010168)
|
Definitive
|
|
|
KMT2C
(HGNC:13726)
|
Kleefstra syndrome 2
(MONDO_0054701)
|
Moderate
|
|
|
DCHS1
(HGNC:13681)
|
van Maldergem syndrome
(MONDO_0017813)
|
Limited
|
|
|
CTCF
(HGNC:13723)
|
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
(MONDO_0014213)
|
Strong
|
|
|
KLF13
(HGNC:13672)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
FBXO11
(HGNC:13590)
|
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
(MONDO_0060760)
|
Strong
|
|
|
ADAMTS13
(HGNC:1366)
|
congenital thrombotic thrombocytopenic purpura
(MONDO_0010122)
|
Definitive
|
|
|
FBXW11
(HGNC:13607)
|
neurodevelopmental, jaw, eye, and digital syndrome
(MONDO_0030057)
|
Moderate
|
|
|
C8B
(HGNC:1353)
|
type II complement component 8 deficiency
(MONDO_0013421)
|
Strong
|
|
|
C9
(HGNC:1358)
|
complement component 9 deficiency
(MONDO_0013445)
|
Strong
|
|
|
BRD4
(HGNC:13575)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Moderate
|
|
|
ERLIN2
(HGNC:1356)
|
hereditary spastic paraplegia 18
(MONDO_0012639)
|
Moderate
|
|
|
MARK4
(HGNC:13538)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
ATP8A2
(HGNC:13533)
|
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
(MONDO_0014104)
|
Strong
|
|
|
ATP8A2
(HGNC:13533)
|
cerebellar ataxia, intellectual disability, and dysequilibrium
(MONDO_0009133)
|
Strong
|
|