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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
PTH1R
(HGNC:9608)
|
metaphyseal chondrodysplasia, Jansen type
(MONDO_0007982)
|
Strong
|
|
|
SLC33A1
(HGNC:95)
|
Huppke-Brendel syndrome
(MONDO_0013772)
|
Moderate
|
|
|
PTEN
(HGNC:9588)
|
Bannayan-Riley-Ruvalcaba syndrome
(MONDO_0007924)
|
Definitive
|
|
|
PTEN
(HGNC:9588)
|
PTEN hamartoma tumor syndrome
(MONDO_0017623)
|
Definitive
|
|
|
PTEN
(HGNC:9588)
|
Proteus-like syndrome
(MONDO_0017571)
|
Strong
|
|
|
PTEN
(HGNC:9588)
|
Cowden disease
(MONDO_0016063)
|
Definitive
|
|
|
PTEN
(HGNC:9588)
|
leiomyosarcoma
(MONDO_0005058)
|
Limited
|
|
|
PTCH2
(HGNC:9586)
|
nevoid basal cell carcinoma syndrome
(MONDO_0007187)
|
Disputed
|
|
|
PTDSS1
(HGNC:9587)
|
Lenz-Majewski hyperostotic dwarfism
(MONDO_0007892)
|
Strong
|
|
|
PTEN
(HGNC:9588)
|
renal cell carcinoma
(MONDO_0005086)
|
Moderate
|
|
|
PTCH1
(HGNC:9585)
|
nevoid basal cell carcinoma syndrome
(MONDO_0007187)
|
Definitive
|
|
|
PSTPIP1
(HGNC:9580)
|
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
(MONDO_0011462)
|
Definitive
|
|
|
PSTPIP1
(HGNC:9580)
|
recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
(MONDO_0016676)
|
Strong
|
|
|
PTCH1
(HGNC:9585)
|
holoprosencephaly
(MONDO_0016296)
|
Limited
|
|
|
PSTPIP1
(HGNC:9580)
|
autoinflammatory syndrome
(MONDO_0019751)
|
Strong
|
|
|
PSMD12
(HGNC:9557)
|
Stankiewicz-Isidor syndrome
(MONDO_0054591)
|
Strong
|
|
|
PSMC5
(HGNC:9552)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
PSMC3
(HGNC:9549)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
PSMB8
(HGNC:9545)
|
proteosome-associated autoinflammatory syndrome
(MONDO_0009726)
|
Definitive
|
|
|
BARD1
(HGNC:952)
|
hereditary nonpolyposis colon cancer
(MONDO_0018630)
|
Disputed
|
|