|
RAPGEF2
(HGNC:16854)
|
benign adult familial myoclonic epilepsy
(MONDO_0019448)
|
Limited
|
|
|
TM4SF4
(HGNC:11856)
|
cholelithiasis
(MONDO_0012672)
|
Moderate
|
|
|
BMP7
(HGNC:1074)
|
hypospadias
(MONDO_0005345)
|
Limited
|
|
|
RPL27
(HGNC:10328)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Limited
|
|
|
RFXANK
(HGNC:9987)
|
MHC class II deficiency
(MONDO_0008855)
|
Definitive
|
|
|
RFXAP
(HGNC:9988)
|
MHC class II deficiency
(MONDO_0008855)
|
Strong
|
|
|
RFX5
(HGNC:9986)
|
MHC class II deficiency
(MONDO_0008855)
|
Strong
|
|
|
RFX3
(HGNC:9984)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
RFX2
(HGNC:9983)
|
cerebral palsy
(MONDO_0006497)
|
Limited
|
|
|
RFC1
(HGNC:9969)
|
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
(MONDO_0044720)
|
Strong
|
|
|
RET
(HGNC:9967)
|
Hirschsprung disease
(MONDO_0018309)
|
Strong
|
|
|
REV3L
(HGNC:9968)
|
Mobius syndrome
(MONDO_0008006)
|
Limited
|
|
|
RET
(HGNC:9967)
|
renal agenesis, unilateral
(MONDO_0019636)
|
Limited
|
|
|
RET
(HGNC:9967)
|
multiple endocrine neoplasia type 2A
(MONDO_0008234)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
pheochromocytoma
(MONDO_0008233)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
familial medullary thyroid carcinoma
(MONDO_0007958)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
multiple endocrine neoplasia type 2B
(MONDO_0008082)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
Hirschsprung disease, susceptibility to, 1
(MONDO_0007723)
|
Definitive
|
|
|
REST
(HGNC:9966)
|
hereditary gingival fibromatosis
(MONDO_0016070)
|
Strong
|
|
|
RERE
(HGNC:9965)
|
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
(MONDO_0014857)
|
Strong
|
|