|
DYNC2LI1
(HGNC:24595)
|
Ellis-van Creveld syndrome
(MONDO_0009162)
|
Moderate
|
|
|
CDT1 Gene
(HGNC:24576)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
KANSL1
(HGNC:24565)
|
Koolen-de Vries syndrome
(MONDO_0012496)
|
Definitive
|
|
|
C2CD3
(HGNC:24564)
|
orofaciodigital syndrome type 14
(MONDO_0014413)
|
Moderate
|
|
|
CHMP2B
(HGNC:24537)
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
(MONDO_0010936)
|
Moderate
|
|
|
CHMP2B
(HGNC:24537)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
TCTN3
(HGNC:24519)
|
ciliopathy
(MONDO_0005308)
|
Limited
|
|
|
WDR62
(HGNC:24502)
|
microcephaly 2, primary, autosomal recessive, with or without cortical malformations
(MONDO_0011435)
|
Strong
|
|
|
ATL3
(HGNC:24526)
|
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
|
Moderate
|
|
|
TCTN3
(HGNC:24519)
|
orofaciodigital syndrome IV
(MONDO_0009794)
|
Limited
|
|
|
MMACHC
(HGNC:24525)
|
methylmalonic aciduria and homocystinuria type cblC
(MONDO_0010184)
|
Definitive
|
|
|
BOLA3
(HGNC:24415)
|
multiple mitochondrial dysfunctions syndrome 2
(MONDO_0013675)
|
Strong
|
|
|
DMGDH
(HGNC:24475)
|
dimethylglycine dehydrogenase deficiency
(MONDO_0011610)
|
Limited
|
|
|
CSF3R
(HGNC:2439)
|
hereditary neutrophilia
(MONDO_0008092)
|
Limited
|
|
|
CSF2RA
(HGNC:2435)
|
hereditary pulmonary alveolar proteinosis
(MONDO_0012580)
|
Moderate
|
|
|
CSF2RB
(HGNC:2436)
|
hereditary pulmonary alveolar proteinosis
(MONDO_0012580)
|
Limited
|
|
|
CSF1R
(HGNC:2433)
|
brain abnormalities, neurodegeneration, and dysosteosclerosis
(MONDO_0032772)
|
Moderate
|
|
|
OTUD6B
(HGNC:24281)
|
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
(MONDO_0044319)
|
Moderate
|
|
|
CARTPT
(HGNC:24323)
|
inherited obesity
(MONDO_0019182)
|
Limited
|
|
|
PTRH2
(HGNC:24265)
|
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
(MONDO_8000012)
|
Strong
|
|