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
CFAP74
(HGNC:29368)
primary ciliary dyskinesia
(MONDO_0016575)
 Limited
DMXL2
(HGNC:2938)
developmental and epileptic encephalopathy, 81
(MONDO_0032858)
 Limited
ASXL3
(HGNC:29357)
syndromic intellectual disability
(MONDO_0000508)
 Strong
DMRT1
(HGNC:2934)
46,XY disorder of sex development
(MONDO_0020040)
 Limited
DMP1
(HGNC:2932)
autosomal recessive hypophosphatemic rickets
(MONDO_0017324)
 Strong
UVSSA
(HGNC:29304)
UV-sensitive syndrome
(MONDO_0015797)
 Strong
SLC7A14
(HGNC:29326)
retinitis pigmentosa
(MONDO_0019200)
 Limited
CEP152
(HGNC:29298)
Seckel syndrome
(MONDO_0019342)
 Moderate
CEP152
(HGNC:29298)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Moderate
DMD
(HGNC:2928)
progressive muscular dystrophy
(MONDO_0016106)
 Limited
DMD
(HGNC:2928)
Duchenne muscular dystrophy
(MONDO_0010679)
 Definitive
DMD
(HGNC:2928)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
 Limited
DMD
(HGNC:2928)
dilated cardiomyopathy 3B
(MONDO_0010542)
 Strong
DMD
(HGNC:2928)
Becker muscular dystrophy
(MONDO_0010311)
 Definitive
IFT80
(HGNC:29262)
Jeune syndrome
(MONDO_0018770)
 Strong
IFT80
(HGNC:29262)
Beemer-Langer syndrome
(MONDO_0010024)
 Limited
CC2D2A
(HGNC:29253)
Meckel syndrome
(MONDO_0018921)
 Strong
USP53
(HGNC:29255)
cholestasis
(MONDO_0001751)
 Strong
CC2D2A
(HGNC:29253)
Joubert syndrome 9
(MONDO_0012849)
 Moderate
WDR35
(HGNC:29250)
short-rib thoracic dysplasia 7 with or without polydactyly
(MONDO_0013569)
 Moderate
Showing 2041–2060 of 6699