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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
NRXN1
(HGNC:8008)
schizophrenia
(MONDO_0005090)
 Strong
NRP1
(HGNC:8004)
congenital heart disease
(MONDO_0005453)
 Limited
NRAS
(HGNC:7989)
Noonan syndrome
(MONDO_0018997)
 Strong
NRAS
(HGNC:7989)
cardiofaciocutaneous syndrome
(MONDO_0015280)
 Limited
NRAS
(HGNC:7989)
Costello syndrome
(MONDO_0009026)
 Disputed
NR4A2
(HGNC:7981)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
NRAS
(HGNC:7989)
Noonan syndrome with multiple lentigines
(MONDO_0007893)
 Limited
NR5A1
(HGNC:7983)
46,XY partial gonadal dysgenesis
(MONDO_0016674)
 Moderate
NR5A1
(HGNC:7983)
46,XY complete gonadal dysgenesis
(MONDO_0010765)
 Strong
NR3C2
(HGNC:7979)
autosomal dominant pseudohypoaldosteronism type 1
(MONDO_0008329)
 Strong
NR2E3
(HGNC:7974)
retinitis pigmentosa
(MONDO_0019200)
 Strong
NR3C1
(HGNC:7978)
glucocorticoid resistance
(MONDO_0014421)
 Moderate
NR0B1
(HGNC:7960)
X-linked adrenal hypoplasia congenita
(MONDO_0010264)
 Definitive
NR2E3
(HGNC:7974)
Goldmann-Favre syndrome
(MONDO_0100289)
 Strong
ATM
(HGNC:795)
hereditary breast carcinoma
(MONDO_0016419)
 Strong
NR2E1
(HGNC:7973)
microcephaly
(MONDO_0001149)
 Disputed
NR1H4
(HGNC:7967)
cholestasis, progressive familial intrahepatic, 5
(MONDO_0014884)
 Strong
ATM
(HGNC:795)
hereditary nonpolyposis colon cancer
(MONDO_0018630)
 Limited
ATM
(HGNC:795)
ataxia telangiectasia
(MONDO_0008840)
 Definitive
ATM
(HGNC:795)
sarcoma
(MONDO_0005089)
 Limited
Showing 561–580 of 6681