|
MSMO1
(HGNC:10545)
|
microcephaly-congenital cataract-psoriasiform dermatitis syndrome
(MONDO_0014793)
|
Moderate
|
|
|
SBF1
(HGNC:10542)
|
Charcot-Marie-Tooth disease type 4B3
(MONDO_0014117)
|
Moderate
|
|
|
SATB1
(HGNC:10541)
|
developmental delay with dysmorphic facies and dental anomalies
(MONDO_0030988)
|
Limited
|
|
|
BIN1
(HGNC:1052)
|
autosomal dominant centronuclear myopathy
(MONDO_0008048)
|
Strong
|
|
|
SAG
(HGNC:10521)
|
retinitis pigmentosa
(MONDO_0019200)
|
Disputed
|
|
|
SARDH
(HGNC:10536)
|
sarcosinemia
(MONDO_0010008)
|
Limited
|
|
|
SAG
(HGNC:10521)
|
Oguchi disease
(MONDO_0019152)
|
Strong
|
|
|
BIK
(HGNC:1051)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
RYR2
(HGNC:10484)
|
catecholaminergic polymorphic ventricular tachycardia 1
(MONDO_0011484)
|
Strong
|
|
|
RYR3
(HGNC:10485)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Limited
|
|
|
RYR1
(HGNC:10483)
|
King-Denborough syndrome
(MONDO_0020485)
|
Moderate
|
|
|
RYR2
(HGNC:10484)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Definitive
|
|
|
RYR2
(HGNC:10484)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Disputed
|
|
|
RYR2
(HGNC:10484)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
RPS26
(HGNC:10414)
|
Diamond-Blackfan anemia 10
(MONDO_0013217)
|
Moderate
|
|
|
RYR1
(HGNC:10483)
|
congenital multicore myopathy with external ophthalmoplegia
(MONDO_0009712)
|
Moderate
|
|
|
RYR1
(HGNC:10483)
|
malignant hyperthermia of anesthesia
(MONDO_0018493)
|
Definitive
|
|
|
RYR1
(HGNC:10483)
|
malignant hyperthermia, susceptibility to, 1
(MONDO_0007783)
|
Strong
|
|
|
RUNX1
(HGNC:10471)
|
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
(MONDO_0100083)
|
Definitive
|
|
|
RYR1
(HGNC:10483)
|
lethal multiple pterygium syndrome
(MONDO_0009668)
|
Moderate
|
|