Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
BBS2
(HGNC:967)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Definitive
|
|
|
PTPRQ
(HGNC:9679)
|
autosomal recessive nonsyndromic hearing loss 84A
(MONDO_0013249)
|
Strong
|
|
|
BBS2
(HGNC:967)
|
ciliopathy
(MONDO_0005308)
|
Strong
|
|
|
PTPRJ
(HGNC:9673)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
PTPN22
(HGNC:9652)
|
rheumatoid arthritis
(MONDO_0008383)
|
Strong
|
|
|
PTPN22
(HGNC:9652)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
PTPN11
(HGNC:9644)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
PTPN11
(HGNC:9644)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Limited
|
|
|
PTPN11
(HGNC:9644)
|
Noonan syndrome with multiple lentigines
(MONDO_0007893)
|
Definitive
|
|
|
BAZ2B
(HGNC:963)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
PTPN11
(HGNC:9644)
|
metachondromatosis
(MONDO_0007979)
|
Strong
|
|
|
PTPN11
(HGNC:9644)
|
Costello syndrome
(MONDO_0009026)
|
Disputed
|
|
|
PTHLH
(HGNC:9607)
|
brachydactyly type E
(MONDO_0019677)
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
Eiken syndrome
(MONDO_0010803)
|
Strong
|
|
|
PTEN
(HGNC:9588)
|
Lhermitte-Duclos disease
(MONDO_0019002)
|
Definitive
|
|
|
HACD1
(HGNC:9639)
|
congenital myopathy
(MONDO_0019952)
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
primary failure of tooth eruption
(MONDO_0007434)
|
Definitive
|
|
|
PTH1R
(HGNC:9608)
|
chondrodysplasia Blomstrand type
(MONDO_0008970)
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
metaphyseal chondrodysplasia, Jansen type
(MONDO_0007982)
|
Strong
|
|
|
SLC33A1
(HGNC:95)
|
Huppke-Brendel syndrome
(MONDO_0013772)
|
Moderate
|
|