|
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
|
|
|
RELN
(HGNC:9957)
|
lissencephaly with cerebellar hypoplasia
(MONDO_0019450)
|
Strong
|
|
|
DPF2
(HGNC:9964)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Strong
|
|
|
RELN
(HGNC:9957)
|
autosomal dominant epilepsy with auditory features
(MONDO_0010898)
|
Strong
|
|
|
RELN
(HGNC:9957)
|
ankylosing spondylitis
(MONDO_0005306)
|
Limited
|
|
|
RECQL5
(HGNC:9950)
|
coronary artery disorder
(MONDO_0005010)
|
Limited
|
|
|
RECQL5
(HGNC:9950)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
RECQL4
(HGNC:9949)
|
Rothmund-Thomson syndrome
(MONDO_0010002)
|
Definitive
|
|
|
RECQL4
(HGNC:9949)
|
rapadilino syndrome
(MONDO_0009955)
|
Strong
|
|
|
RECQL4
(HGNC:9949)
|
osteosarcoma
(MONDO_0009807)
|
Strong
|
|
|
RECQL4
(HGNC:9949)
|
Baller-Gerold syndrome
(MONDO_0009039)
|
Moderate
|
|
|
RECQL
(HGNC:9948)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
RECQL
(HGNC:9948)
|
breast cancer
(MONDO_0007254)
|
Disputed
|
|
|
PRPH2
(HGNC:9942)
|
multifocal pattern dystrophy simulating fundus flavimaculatus
(MONDO_0020382)
|
Strong
|
|
|
PRPH2
(HGNC:9942)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
PRPH2
(HGNC:9942)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Definitive
|
|
|
PRPH2
(HGNC:9942)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
PRPH2
(HGNC:9942)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
PRPH2
(HGNC:9942)
|
retinitis punctata albescens
(MONDO_0018877)
|
Limited
|
|