|
TNS2
(HGNC:19737)
|
nephrotic syndrome
(MONDO_0005377)
|
Limited
|
|
|
CANT1
(HGNC:19721)
|
Desbuquois dysplasia 1
(MONDO_0009629)
|
Strong
|
|
|
CHST3
(HGNC:1971)
|
spondyloepiphyseal dysplasia with congenital joint dislocations
(MONDO_0007738)
|
Definitive
|
|
|
DDHD1
(HGNC:19714)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Moderate
|
|
|
DDHD1
(HGNC:19714)
|
hereditary spastic paraplegia 28
(MONDO_0012256)
|
Moderate
|
|
|
ADAMTSL4
(HGNC:19706)
|
ectopia lentis et pupillae
(MONDO_0009153)
|
Strong
|
|
|
DISP1
(HGNC:19711)
|
holoprosencephaly
(MONDO_0016296)
|
Moderate
|
|
|
ADAMTSL4
(HGNC:19706)
|
isolated ectopia lentis
(MONDO_0015998)
|
Strong
|
|
|
COQ4
(HGNC:19693)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
KCNV2
(HGNC:19698)
|
cone dystrophy with supernormal rod response
(MONDO_0012475)
|
Definitive
|
|
|
CNKSR2
(HGNC:19701)
|
intellectual disability, X-linked, syndromic, Houge type
(MONDO_0030909)
|
Strong
|
|
|
CHRNA2
(HGNC:1956)
|
sleep-related hypermotor epilepsy
(MONDO_0000030)
|
Moderate
|
|
|
MECR
(HGNC:19691)
|
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
(MONDO_0015003)
|
Limited
|
|
|
LYST
(HGNC:1968)
|
Chediak-Higashi syndrome
(MONDO_0008963)
|
Definitive
|
|
|
NECTIN4
(HGNC:19688)
|
ectodermal dysplasia-syndactyly syndrome 1
(MONDO_0024565)
|
Strong
|
|
|
NECTIN4
(HGNC:19688)
|
ectodermal dysplasia-syndactyly syndrome
(MONDO_0013311)
|
Strong
|
|
|
EIF2AK4
(HGNC:19687)
|
heritable pulmonary arterial hypertension
(MONDO_0017148)
|
Limited
|
|
|
EIF2AK4
(HGNC:19687)
|
pulmonary venoocclusive disease
(MONDO_0009937)
|
Definitive
|
|
|
CHRNG
(HGNC:1967)
|
autosomal recessive multiple pterygium syndrome
(MONDO_0009926)
|
Strong
|
|
|
CHRND
(HGNC:1965)
|
lethal multiple pterygium syndrome
(MONDO_0009668)
|
Moderate
|
|