|
NPR2
(HGNC:7944)
|
short stature with nonspecific skeletal abnormalities
(MONDO_0014551)
|
Strong
|
|
|
ATM
(HGNC:795)
|
gastric carcinoma
(MONDO_0004950)
|
Limited
|
|
|
NPR2
(HGNC:7944)
|
tall stature-scoliosis-macrodactyly of the great toes syndrome
(MONDO_0014401)
|
Strong
|
|
|
ATF6
(HGNC:791)
|
achromatopsia
(MONDO_0018852)
|
Strong
|
|
|
ATF6
(HGNC:791)
|
cone-rod dystrophy
(MONDO_0015993)
|
Limited
|
|
|
NPHS1
(HGNC:7908)
|
congenital nephrotic syndrome, Finnish type
(MONDO_0009732)
|
Strong
|
|
|
NPHP3
(HGNC:7907)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Limited
|
|
|
NPHP3
(HGNC:7907)
|
renal-hepatic-pancreatic dysplasia
(MONDO_0017417)
|
Moderate
|
|
|
NPHP3
(HGNC:7907)
|
nephronophthisis 3
(MONDO_0011456)
|
Moderate
|
|
|
NPHP1
(HGNC:7905)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Moderate
|
|
|
NPHP1
(HGNC:7905)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
NPHP1
(HGNC:7905)
|
nephronophthisis 1
(MONDO_0009728)
|
Definitive
|
|
|
NPC1
(HGNC:7897)
|
Niemann-Pick disease, type C1
(MONDO_0009757)
|
Definitive
|
|
|
NOTCH3
(HGNC:7883)
|
infantile myofibromatosis
(MONDO_0016824)
|
Limited
|
|
|
NOTCH3
(HGNC:7883)
|
lateral meningocele syndrome
(MONDO_0007537)
|
Strong
|
|
|
NOTCH3
(HGNC:7883)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Limited
|
|
|
NOTCH3
(HGNC:7883)
|
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
(MONDO_0000914)
|
Definitive
|
|
|
NOTCH2
(HGNC:7882)
|
Alagille syndrome due to a NOTCH2 point mutation
(MONDO_0012439)
|
Strong
|
|
|
NOTCH2
(HGNC:7882)
|
Alagille syndrome
(MONDO_0007318)
|
Strong
|
|
|
NOTCH2
(HGNC:7882)
|
Acroosteolysis dominant type
(MONDO_0007057)
|
Definitive
|
|