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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
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
Showing 221–240 of 6681