|
CLCN7
(HGNC:2025)
|
osteopetrosis
(MONDO_0017198)
|
Definitive
|
|
|
CLCN7
(HGNC:2025)
|
autosomal dominant osteopetrosis 2
(MONDO_0008156)
|
Definitive
|
|
|
SPRED1
(HGNC:20249)
|
Legius syndrome
(MONDO_0012669)
|
Definitive
|
|
|
CLCN5
(HGNC:2023)
|
Dent disease
(MONDO_0015612)
|
Definitive
|
|
|
CLCN2
(HGNC:2020)
|
leukoencephalopathy with mild cerebellar ataxia and white matter edema
(MONDO_0014292)
|
Strong
|
|
|
CLCN5
(HGNC:2023)
|
Dent disease type 1
(MONDO_0010225)
|
Definitive
|
|
|
CLCN1
(HGNC:2019)
|
myotonia congenita, autosomal dominant
(MONDO_0008055)
|
Definitive
|
|
|
GPR143
(HGNC:20145)
|
X-linked recessive ocular albinism
(MONDO_0021019)
|
Definitive
|
|
|
EVC2
(HGNC:19747)
|
Ellis-van Creveld syndrome
(MONDO_0009162)
|
Definitive
|
|
|
POMT2
(HGNC:19743)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Strong
|
|
|
CHRNE
(HGNC:1966)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Definitive
|
|
|
CHRNB2
(HGNC:1962)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Moderate
|
|
|
CHRNA1
(HGNC:1955)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Strong
|
|
|
CHM
(HGNC:1940)
|
choroideremia
(MONDO_0010557)
|
Definitive
|
|
|
POGZ
(HGNC:18801)
|
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
(MONDO_0014606)
|
Definitive
|
|
|
DOCK8
(HGNC:19191)
|
hyper-IgE syndrome
(MONDO_0018037)
|
Definitive
|
|
|
DOCK8
(HGNC:19191)
|
combined immunodeficiency due to DOCK8 deficiency
(MONDO_0009478)
|
Definitive
|
|
|
DOCK6
(HGNC:19189)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Strong
|
|
|
POMGNT1
(HGNC:19139)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Definitive
|
|
|
NPHP4
(HGNC:19104)
|
nephronophthisis
(MONDO_0019005)
|
Strong
|
|