|
SAMHD1
(HGNC:15925)
|
Moyamoya disease
(MONDO_0016820)
|
Limited
|
|
|
SALL4
(HGNC:15924)
|
Duane-radial ray syndrome
(MONDO_0011812)
|
Strong
|
|
|
SALL4
(HGNC:15924)
|
Duane retraction syndrome
(MONDO_0007473)
|
Limited
|
|
|
PLCB1
(HGNC:15917)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Limited
|
|
|
PLCB1
(HGNC:15917)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
NOP56
(HGNC:15911)
|
spinocerebellar ataxia type 36
(MONDO_0013594)
|
Strong
|
|
|
RTEL1
(HGNC:15888)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
RTEL1
(HGNC:15888)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Strong
|
|
|
MYH7B
(HGNC:15906)
|
left ventricular noncompaction
(MONDO_0018901)
|
Limited
|
|
|
TMEM230
(HGNC:15876)
|
Parkinson disease
(MONDO_0005180)
|
Disputed
|
|
|
KIZ
(HGNC:15865)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
RBCK1
(HGNC:15864)
|
polyglucosan body myopathy 1 with or without immunodeficiency
(MONDO_0014389)
|
Moderate
|
|
|
PRPF6
(HGNC:15860)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
ARFGEF2
(HGNC:15853)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Moderate
|
|
|
TASP1
(HGNC:15859)
|
Suleiman-El-Hattab syndrome
(MONDO_0033532)
|
Strong
|
|
|
KMT2B
(HGNC:15840)
|
intellectual developmental disorder, autosomal dominant 68
(MONDO_0030969)
|
Limited
|
|
|
KMT2B
(HGNC:15840)
|
dystonia 28, childhood-onset
(MONDO_0015004)
|
Definitive
|
|
|
PROKR2
(HGNC:15836)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
CCND2
(HGNC:1583)
|
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
(MONDO_0019375)
|
Strong
|
|
|
PROKR2
(HGNC:15836)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Moderate
|
|