|
NDUFAF8
(HGNC:33551)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
ENPP1
(HGNC:3356)
|
arterial calcification, generalized, of infancy, 1
(MONDO_0008817)
|
Strong
|
|
|
ENG
(HGNC:3349)
|
juvenile polyposis syndrome
(MONDO_0017380)
|
Refuted
|
|
|
ELF4
(HGNC:3319)
|
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
(MONDO_0024770)
|
Strong
|
|
|
CCDC103
(HGNC:32700)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
ELN
(HGNC:3327)
|
autosomal dominant cutis laxa
(MONDO_0019571)
|
Strong
|
|
|
ENG
(HGNC:3349)
|
telangiectasia, hereditary hemorrhagic, type 1
(MONDO_0008535)
|
Definitive
|
|
|
ATRIP
(HGNC:33499)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
AGRN
(HGNC:329)
|
congenital myasthenic syndrome 8
(MONDO_0014052)
|
Strong
|
|
|
ENAM
(HGNC:3344)
|
amelogenesis imperfecta type 1
(MONDO_0015047)
|
Strong
|
|
|
EMX2
(HGNC:3341)
|
schizencephaly
(MONDO_0010011)
|
Disputed
|
|
|
EMD
(HGNC:3331)
|
X-linked Emery-Dreifuss muscular dystrophy
(MONDO_0010680)
|
Definitive
|
|
|
ELANE
(HGNC:3309)
|
cyclic hematopoiesis
(MONDO_0008090)
|
Definitive
|
|
|
AGR2
(HGNC:328)
|
respiratory infections, recurrent, and failure to thrive with or without diarrhea
(MONDO_0859370)
|
Moderate
|
|
|
ELN
(HGNC:3327)
|
supravalvular aortic stenosis
(MONDO_0008504)
|
Definitive
|
|
|
ELANE
(HGNC:3309)
|
neutropenia
(MONDO_0001475)
|
Strong
|
|
|
ABCA2
(HGNC:32)
|
intellectual developmental disorder with poor growth and with or without seizures or ataxia
(MONDO_0032930)
|
Limited
|
|
|
SMPD4
(HGNC:32949)
|
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
(MONDO_0032838)
|
Moderate
|
|
|
RNF207
(HGNC:32947)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
DUOXA2
(HGNC:32698)
|
familial thyroid dyshormonogenesis
(MONDO_0010132)
|
Moderate
|
|