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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
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KIF1B
(HGNC:16636)
pheochromocytoma
(MONDO_0008233)
Limited
KIF1B
(HGNC:16636)
Charcot-Marie-Tooth disease type 2A1
(MONDO_0007308)
Limited
CHEK2
(HGNC:16627)
acute myeloid leukemia
(MONDO_0018874)
Moderate
KGD4
(HGNC:16631)
Leigh syndrome
(MONDO_0009723)
Moderate
CHEK2
(HGNC:16627)
hereditary nonpolyposis colon cancer
(MONDO_0018630)
Limited
CHEK2
(HGNC:16627)
hereditary breast carcinoma
(MONDO_0016419)
Strong
TMC1
(HGNC:16513)
nonsyndromic genetic hearing loss
(MONDO_0019497)
Strong
CHEK2
(HGNC:16627)
familial ovarian cancer
(MONDO_0016248)
Limited
RAPGEF4
(HGNC:16626)
prostate cancer
(MONDO_0008315)
Limited
TMC1
(HGNC:16513)
autosomal dominant nonsyndromic hearing loss 36
(MONDO_0011708)
Strong
BSND
(HGNC:16512)
Bartter syndrome type 4
(MONDO_0019524)
Strong
BSND
(HGNC:16512)
Bartter disease type 4A
(MONDO_0011242)
Strong
ZMIZ1
(HGNC:16493)
syndromic intellectual disability
(MONDO_0000508)
Moderate
BPIFC
(HGNC:16503)
trichilemmal cyst
(MONDO_0012328)
Limited
RAB39B
(HGNC:16499)
early-onset parkinsonism-intellectual disability syndrome
(MONDO_0010709)
Strong
ZMIZ1
(HGNC:16493)
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
(MONDO_0032855)
Strong
NME8
(HGNC:16473)
primary ciliary dyskinesia
(MONDO_0016575)
Limited
SLC45A2
(HGNC:16472)
oculocutaneous albinism type 4
(MONDO_0011683)
Strong
SUFU
(HGNC:16466)
Joubert syndrome
(MONDO_0018772)
Moderate
SUFU
(HGNC:16466)
medulloblastoma
(MONDO_0007959)
Strong
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