Stats

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

Gene–Disease Browser

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Gene Disease Score Actions
HSPB6
(HGNC:26511)
dilated cardiomyopathy
(MONDO_0005021)
Limited
ZNF513
(HGNC:26498)
hereditary gingival fibromatosis
(MONDO_0016070)
Limited
KASH5
(HGNC:26520)
premature menopause
(MONDO_0001119)
Limited
CCDC122
(HGNC:26478)
leprosy
(MONDO_0005124)
Moderate
CFAP54
(HGNC:26456)
primary ciliary dyskinesia
(MONDO_0016575)
Moderate
TSNARE1
(HGNC:26437)
schizophrenia
(MONDO_0005090)
Limited
HENMT1
(HGNC:26400)
male infertility
(MONDO_0005372)
Moderate
CFAP54
(HGNC:26456)
amyotrophic lateral sclerosis
(MONDO_0004976)
Limited
PLEKHS1
(HGNC:26285)
urinary bladder cancer
(MONDO_0001187)
Limited
NDNF
(HGNC:26256)
Kallmann syndrome
(MONDO_0018800)
Limited
MYO19
(HGNC:26234)
hearing loss disorder
(MONDO_0005365)
Limited
TMEM53
(HGNC:26186)
craniotubular dysplasia, Ikegawa type
(MONDO_0859226)
Strong
STEEP1
(HGNC:26239)
intellectual disability
(MONDO_0001071)
Moderate
CSPP1
(HGNC:26193)
Joubert syndrome
(MONDO_0018772)
Strong
CCDC134
(HGNC:26185)
osteogenesis imperfecta
(MONDO_0019019)
Moderate
ZNF672
(HGNC:26179)
GLUT1 deficiency syndrome
(MONDO_0000188)
Refuted
REEP4
(HGNC:26176)
blepharospasm-oromandibular dystonia syndrome
(MONDO_0019772)
Limited
ELMOD3
(HGNC:26158)
autism spectrum disorder
(MONDO_0005258)
Limited
REEP4
(HGNC:26176)
benign essential blepharospasm
(MONDO_0011728)
Limited
REEP4
(HGNC:26176)
dystonic disorder
(MONDO_0003441)
Limited
Showing 5781–5800 of 6699