|
F2
(HGNC:3535)
|
congenital prothrombin deficiency
(MONDO_0013361)
|
Strong
|
|
|
F13B
(HGNC:3534)
|
congenital factor XIII deficiency
(MONDO_0018029)
|
Moderate
|
|
|
F13B
(HGNC:3534)
|
factor XIII, b subunit, deficiency of
(MONDO_0013190)
|
Moderate
|
|
|
F12
(HGNC:3530)
|
hereditary angioedema type 3
(MONDO_0012526)
|
Moderate
|
|
|
F12
(HGNC:3530)
|
congenital factor XII deficiency
(MONDO_0009315)
|
Definitive
|
|
|
F11
(HGNC:3529)
|
congenital factor XI deficiency
(MONDO_0012897)
|
Definitive
|
|
|
EZH2
(HGNC:3527)
|
Weaver syndrome
(MONDO_0010193)
|
Definitive
|
|
|
EYA4
(HGNC:3522)
|
autosomal dominant nonsyndromic hearing loss 10
(MONDO_0011031)
|
Strong
|
|
|
EXTL3
(HGNC:3518)
|
immunoskeletal dysplasia with neurodevelopmental abnormalities
(MONDO_0044312)
|
Moderate
|
|
|
EXT2
(HGNC:3513)
|
seizures-scoliosis-macrocephaly syndrome
(MONDO_0014731)
|
Moderate
|
|
|
EXT1
(HGNC:3512)
|
chondrosarcoma
(MONDO_0008977)
|
Limited
|
|
|
BHLHA9
(HGNC:35126)
|
mesoaxial synostotic syndactyly with phalangeal reduction
(MONDO_0012271)
|
Moderate
|
|
|
EXO1
(HGNC:3511)
|
Lynch syndrome
(MONDO_0005835)
|
Disputed
|
|
|
EWSR1
(HGNC:3508)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
ABCA4
(HGNC:34)
|
Stargardt disease
(MONDO_0019353)
|
Definitive
|
|
|
ABCA4
(HGNC:34)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
ABCA4
(HGNC:34)
|
cone-rod dystrophy
(MONDO_0015993)
|
Definitive
|
|
|
ABCA4
(HGNC:34)
|
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
|
Moderate
|
|
|
MECOM
(HGNC:3498)
|
radioulnar synostosis with amegakaryocytic thrombocytopenia 2
(MONDO_0014758)
|
Strong
|
|
|
MECOM
(HGNC:3498)
|
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
(MONDO_0011555)
|
Strong
|
|