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
CYLD
(HGNC:2584)
Brooke-Spiegler syndrome
(MONDO_0011512)
 Definitive
CYLD
(HGNC:2584)
familial cylindromatosis
(MONDO_0007565)
 Definitive
CPLANE1
(HGNC:25801)
Joubert syndrome
(MONDO_0018772)
 Strong
CYBB
(HGNC:2578)
chronic granulomatous disease
(MONDO_0018305)
 Definitive
CYBB
(HGNC:2578)
granulomatous disease, chronic, X-linked
(MONDO_0010600)
 Definitive
DCAF17
(HGNC:25784)
Woodhouse-Sakati syndrome
(MONDO_0009419)
 Definitive
ARMC5
(HGNC:25781)
Cushing syndrome
(MONDO_0018912)
 Strong
ARMC5
(HGNC:25781)
Cushing syndrome due to macronodular adrenal hyperplasia
(MONDO_0009049)
 Definitive
FANCI GENE
(HGNC:25568)
Fanconi anemia
(MONDO_0019391)
 Strong
BCORL1
(HGNC:25657)
acute myeloid leukemia
(MONDO_0018874)
 Moderate
CUL3
(HGNC:2553)
pseudohypoaldosteronism type 2
(MONDO_0019162)
 Strong
C19orf12
(HGNC:25443)
neurodegeneration with brain iron accumulation
(MONDO_0018307)
 Definitive
DARS2
(HGNC:25538)
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
(MONDO_0012622)
 Definitive
C19orf12
(HGNC:25443)
neurodegeneration with brain iron accumulation 4
(MONDO_0013674)
 Strong
TANGO2
(HGNC:25439)
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
(MONDO_0018820)
 Strong
CTSC
(HGNC:2528)
Haim-Munk syndrome
(MONDO_0009491)
 Moderate
CTSK
(HGNC:2536)
pycnodysostosis
(MONDO_0009940)
 Definitive
AHDC1
(HGNC:25230)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
(MONDO_0014358)
 Strong
CTSC
(HGNC:2528)
Papillon-Lefevre disease
(MONDO_0009490)
 Definitive
CTNS
(HGNC:2518)
nephropathic cystinosis
(MONDO_0100151)
 Definitive
Showing 4821–4840 of 6699