|
VARS1
(HGNC:12651)
|
combined oxidative phosphorylation defect type 20
(MONDO_0014397)
|
Refuted
|
|
|
VARS1
(HGNC:12651)
|
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
(MONDO_0060621)
|
Strong
|
|
|
VAPB
(HGNC:12649)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
VAPB
(HGNC:12649)
|
amyotrophic lateral sclerosis type 8
(MONDO_0012077)
|
Strong
|
|
|
KDM6A
(HGNC:12637)
|
Kabuki syndrome
(MONDO_0016512)
|
Definitive
|
|
|
KDM6A
(HGNC:12637)
|
Kabuki syndrome 2
(MONDO_0010465)
|
Strong
|
|
|
USP9X
(HGNC:12632)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Limited
|
|
|
USP7
(HGNC:12630)
|
Hao-Fountain syndrome
(MONDO_0014805)
|
Strong
|
|
|
USP8
(HGNC:12631)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Limited
|
|
|
USP18
(HGNC:12616)
|
pseudo-TORCH syndrome 2
(MONDO_0018828)
|
Moderate
|
|
|
CFAP410
(HGNC:1260)
|
cone-rod dystrophy
(MONDO_0015993)
|
Moderate
|
|
|
CFAP410
(HGNC:1260)
|
axial spondylometaphyseal dysplasia
(MONDO_0011211)
|
Moderate
|
|
|
CFAP410
(HGNC:1260)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
CLRN1
(HGNC:12605)
|
Usher syndrome type 3
(MONDO_0016485)
|
Definitive
|
|
|
CLRN1
(HGNC:12605)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
USH2A
(HGNC:12601)
|
Usher syndrome type 2
(MONDO_0016484)
|
Definitive
|
|
|
USH2A
(HGNC:12601)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
USH2A
(HGNC:12601)
|
Usher syndrome type 2A
(MONDO_0010169)
|
Definitive
|
|
|
USH1C
(HGNC:12597)
|
autosomal recessive nonsyndromic hearing loss 18A
(MONDO_0011192)
|
Limited
|
|
|
USH1C
(HGNC:12597)
|
Usher syndrome type 1C
(MONDO_0010171)
|
Moderate
|
|