|
CRLF1
(HGNC:2364)
|
cold-induced sweating syndrome
(MONDO_0015526)
|
Strong
|
|
|
CRLF1
(HGNC:2364)
|
Cold-induced sweating syndrome 1
(MONDO_0010091)
|
Definitive
|
|
|
CRKL
(HGNC:2363)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
SKIC3
(HGNC:23639)
|
trichohepatoenteric syndrome
(MONDO_0009105)
|
Strong
|
|
|
VPS13C
(HGNC:23594)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Moderate
|
|
|
VPS13D
(HGNC:23595)
|
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
(MONDO_0011811)
|
Strong
|
|
|
VPS13D
(HGNC:23595)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
ANKRD17
(HGNC:23575)
|
Chopra-Amiel-Gordon syndrome
(MONDO_0859186)
|
Strong
|
|
|
MORC2
(HGNC:23573)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
DHTKD1
(HGNC:23537)
|
2-aminoadipic 2-oxoadipic aciduria
(MONDO_0008774)
|
Strong
|
|
|
CRH
(HGNC:2355)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Limited
|
|
|
CREBBP
(HGNC:2348)
|
Rubinstein-Taybi syndrome
(MONDO_0019188)
|
Definitive
|
|
|
CREBBP
(HGNC:2348)
|
Rubinstein-Taybi syndrome due to CREBBP mutations
(MONDO_0008393)
|
Definitive
|
|
|
DOCK11
(HGNC:23483)
|
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
(MONDO_0957494)
|
Strong
|
|
|
CRB1
(HGNC:2343)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
CRB1
(HGNC:2343)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
CRB1
(HGNC:2343)
|
pigmented paravenous retinochoroidal atrophy
(MONDO_0008246)
|
Limited
|
|
|
CRB1
(HGNC:2343)
|
Leber congenital amaurosis 8
(MONDO_0013453)
|
Strong
|
|
|
CRB1
(HGNC:2343)
|
nanophthalmia
(MONDO_0005514)
|
Limited
|
|
|
CRADD
(HGNC:2340)
|
intellectual disability, autosomal recessive 34
(MONDO_0013785)
|
Moderate
|
|