|
NOTCH1
(HGNC:7881)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Strong
|
|
|
NOTCH1
(HGNC:7881)
|
familial bicuspid aortic valve
(MONDO_0007194)
|
Moderate
|
|
|
CNOT3
(HGNC:7879)
|
intellectual developmental disorder with speech delay, autism, and dysmorphic facies
(MONDO_0032864)
|
Moderate
|
|
|
NOTCH1
(HGNC:7881)
|
connective tissue disorder
(MONDO_0003900)
|
Limited
|
|
|
CNOT2
(HGNC:7878)
|
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
(MONDO_0032832)
|
Moderate
|
|
|
CNOT1
(HGNC:7877)
|
Vissers-Bodmer syndrome
(MONDO_0033618)
|
Strong
|
|
|
NONO
(HGNC:7871)
|
syndromic X-linked intellectual disability 34
(MONDO_0010501)
|
Strong
|
|
|
NOG
(HGNC:7866)
|
multiple synostoses syndrome
(MONDO_0017923)
|
Strong
|
|
|
NOG
(HGNC:7866)
|
brachydactyly type B2
(MONDO_0012658)
|
Limited
|
|
|
NOG
(HGNC:7866)
|
tarsal-carpal coalition syndrome
(MONDO_0008521)
|
Moderate
|
|
|
NOG
(HGNC:7866)
|
multiple synostoses syndrome 1
(MONDO_0008519)
|
Strong
|
|
|
NOG
(HGNC:7866)
|
stapes ankylosis with broad thumbs and toes
(MONDO_0008484)
|
Limited
|
|
|
NGF
(HGNC:7808)
|
hereditary sensory and autonomic neuropathy
(MONDO_0015364)
|
Moderate
|
|
|
NGF
(HGNC:7808)
|
hereditary sensory and autonomic neuropathy type 5
(MONDO_0012092)
|
Strong
|
|
|
ATCAY
(HGNC:779)
|
Cayman type cerebellar ataxia
(MONDO_0011025)
|
Moderate
|
|
|
NFKBIA
(HGNC:7797)
|
ectodermal dysplasia and immune deficiency
(MONDO_0010293)
|
Strong
|
|
|
NFKB2
(HGNC:7795)
|
deficiency in anterior pituitary function - variable immunodeficiency syndrome
(MONDO_0017407)
|
Moderate
|
|
|
NFKB1
(HGNC:7794)
|
common variable immunodeficiency
(MONDO_0015517)
|
Definitive
|
|
|
ZFHX3
(HGNC:777)
|
spinocerebellar ataxia type 4
(MONDO_0010847)
|
Strong
|
|
|
ZFHX3
(HGNC:777)
|
epilepsy
(MONDO_0005027)
|
Moderate
|
|