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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
PKD1
(HGNC:9008)
polycystic kidney disease 1
(MONDO_0008263)
 Definitive
PITX2
(HGNC:9005)
Axenfeld anomaly
(MONDO_0020368)
 Strong
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
Showing 381–400 of 6681