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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
ATM
(HGNC:795)
prostate cancer
(MONDO_0008315)
 Strong
ATIC
(HGNC:794)
AICA-ribosiduria
(MONDO_0012099)
 Strong
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)
 Moderate
NPHS1
(HGNC:7908)
congenital nephrotic syndrome, Finnish type
(MONDO_0009732)
 Strong
NPHP3
(HGNC:7907)
Senior-Loken syndrome
(MONDO_0017842)
 Moderate
NPHP3
(HGNC:7907)
renal-hepatic-pancreatic dysplasia
(MONDO_0017417)
 Strong
NPHP3
(HGNC:7907)
nephronophthisis 3
(MONDO_0011456)
 Strong
NPHP1
(HGNC:7905)
Senior-Loken syndrome
(MONDO_0017842)
 Moderate
NPHP1
(HGNC:7905)
Bardet-Biedl syndrome
(MONDO_0015229)
 Moderate
NPHP1
(HGNC:7905)
nephronophthisis 1
(MONDO_0009728)
 Strong
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
Showing 581–600 of 6681