Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
CYP11B2
(HGNC:2592)
corticosterone methyloxidase type 2 deficiency
(MONDO_0012524)
 Strong
CYP11B1
(HGNC:2591)
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
(MONDO_0008729)
 Definitive
CYP11A1
(HGNC:2590)
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
(MONDO_0013400)
 Strong
MFSD2A
(HGNC:25897)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Strong
CEP89
(HGNC:25907)
intellectual disability
(MONDO_0001071)
 Limited
POMGNT2
(HGNC:25902)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Moderate
ORAI1
(HGNC:25896)
Stormorken syndrome
(MONDO_0008497)
 Moderate
ORAI1
(HGNC:25896)
tubular aggregate myopathy
(MONDO_0008051)
 Strong
CYLD
(HGNC:2584)
familial multiple trichoepithelioma
(MONDO_0011114)
 Definitive
ZNF606
(HGNC:25879)
neuromyelitis optica
(MONDO_0019100)
 Limited
GINS3
(HGNC:25851)
Meier-Gorlin syndrome
(MONDO_0016817)
 Strong
GRHL3
(HGNC:25839)
van der Woude syndrome
(MONDO_0019508)
 Strong
SRD5A3
(HGNC:25812)
SRD5A3-congenital disorder of glycosylation
(MONDO_0012885)
 Strong
CYLD
(HGNC:2584)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
ADK
(HGNC:257)
adenosine kinase deficiency
(MONDO_0100255)
 Strong
FAM161A
(HGNC:25808)
retinitis pigmentosa
(MONDO_0019200)
 Strong
CPLANE1
(HGNC:25801)
orofaciodigital syndrome type 6
(MONDO_0010176)
 Strong
CYC1
(HGNC:2579)
mitochondrial disease
(MONDO_0044970)
 Limited
GUF1
(HGNC:25799)
West syndrome
(MONDO_0018097)
 Limited
EFL1
(HGNC:25789)
Shwachman-Diamond syndrome
(MONDO_0009833)
 Strong
Showing 2301–2320 of 6699