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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
KRT1
(HGNC:6412)
epidermolytic ichthyosis
(MONDO_0007239)
 Definitive
KRAS
(HGNC:6407)
Noonan syndrome
(MONDO_0018997)
 Definitive
KRAS
(HGNC:6407)
cardiofaciocutaneous syndrome
(MONDO_0015280)
 Strong
KRAS
(HGNC:6407)
Costello syndrome
(MONDO_0009026)
 Limited
KRAS
(HGNC:6407)
linear nevus sebaceous syndrome
(MONDO_0008097)
 Strong
KIF22
(HGNC:6391)
spondyloepimetaphyseal dysplasia with multiple dislocations
(MONDO_0011335)
 Definitive
KNG1
(HGNC:6383)
congenital high-molecular-weight kininogen deficiency
(MONDO_0009234)
 Strong
KIF11
(HGNC:6388)
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
(MONDO_0007918)
 Definitive
AQP4
(HGNC:637)
neuromyelitis optica
(MONDO_0019100)
 Limited
KLK1
(HGNC:6357)
pulmonary arterial hypertension
(MONDO_0015924)
 Limited
KLHL3
(HGNC:6354)
pseudohypoaldosteronism type 2D
(MONDO_0013781)
 Definitive
KLF2
(HGNC:6347)
pulmonary arterial hypertension
(MONDO_0015924)
 Disputed
KLF1
(HGNC:6345)
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
(MONDO_0018749)
 Strong
KLF1
(HGNC:6345)
congenital dyserythropoietic anemia type 4
(MONDO_0013355)
 Strong
KITLG
(HGNC:6343)
familial progressive hyper- and hypopigmentation
(MONDO_0017239)
 Definitive
KITLG
(HGNC:6343)
Waardenburg syndrome type 2
(MONDO_0019517)
 Moderate
KITLG
(HGNC:6343)
hyperpigmentation with or without hypopigmentation, familial progressive
(MONDO_0007771)
 Strong
KIT
(HGNC:6342)
cutaneous mastocytosis
(MONDO_0019023)
 Strong
KIT
(HGNC:6342)
piebaldism
(MONDO_0008244)
 Definitive
KIT
(HGNC:6342)
gastrointestinal stromal tumor
(MONDO_0011719)
 Definitive
Showing 1041–1060 of 6681