Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| Gene |
Disease |
Score |
Actions |
|
PITX2
(HGNC:9005)
|
Rieger anomaly
(MONDO_0019628)
|
Strong
|
|
|
PITX2
(HGNC:9005)
|
aniridia
(MONDO_0019172)
|
Limited
|
|
|
PITX1
(HGNC:9004)
|
clubfoot
(MONDO_0007342)
|
Moderate
|
|
|
PITX2
(HGNC:9005)
|
Peters anomaly
(MONDO_0011414)
|
Limited
|
|
|
PITX2
(HGNC:9005)
|
Axenfeld-Rieger syndrome type 1
(MONDO_0008386)
|
Definitive
|
|
|
PITX2
(HGNC:9005)
|
anterior segment dysgenesis 4
(MONDO_0007662)
|
Strong
|
|
|
PIP5K1C
(HGNC:8996)
|
lethal congenital contracture syndrome 3
(MONDO_0012656)
|
Moderate
|
|
|
PIK3R2
(HGNC:8980)
|
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
(MONDO_0019375)
|
Moderate
|
|
|
PIK3R1
(HGNC:8979)
|
SHORT syndrome
(MONDO_0010026)
|
Definitive
|
|
|
PIK3R1
(HGNC:8979)
|
immunodeficiency 36
(MONDO_0014453)
|
Strong
|
|
|
PIK3CD
(HGNC:8977)
|
immunodeficiency 14
(MONDO_0014222)
|
Definitive
|
|
|
PIK3CA
(HGNC:8975)
|
megalencephaly-capillary malformation-polymicrogyria syndrome
(MONDO_0011240)
|
Definitive
|
|
|
PIK3CA
(HGNC:8975)
|
Cowden disease
(MONDO_0016063)
|
Limited
|
|
|
PIK3CA
(HGNC:8975)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
PIK3CA
(HGNC:8975)
|
vascular malformation
(MONDO_0024291)
|
Strong
|
|
|
PIK3C2A
(HGNC:8971)
|
oculocerebrodental syndrome
(MONDO_0034145)
|
Moderate
|
|
|
PIGN
(HGNC:8967)
|
Fryns syndrome
(MONDO_0009253)
|
Strong
|
|
|
PIGL
(HGNC:8966)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Limited
|
|
|
AVPR1A
(HGNC:895)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
PIGA
(HGNC:8957)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|