Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
0.050 Biomarker phenotype BEFREE Our findings extend those of previous studies that reported KIT as a likely causal gene for white spotting, and report novel associations between candidate causal mutations in both the MITF and PAX3 genes. 31703548 2019
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
0.050 GeneticVariation phenotype BEFREE Though auditory anomalies have been observed in mice with dominant white spotting (W) due to KIT mutations, deafness is not typical in human piebaldism. 9450866 1998
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
0.050 GeneticVariation phenotype BEFREE The c-kit gene is allelic with the dominant spotting (W) locus on mouse chromosome 5 and encodes a receptor tyrosine kinase. 9110344 1996
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
0.050 GeneticVariation phenotype BEFREE Inherited mutations of the KIT gene result in piebaldism in humans and dominant white spotting (W) in mice. 7518854 1994
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
0.050 GeneticVariation phenotype BEFREE A similar disorder of mouse, dominant white spotting (W), results from mutations of the c-Kit protooncogene, which encodes and receptor for mast/stem cell growth factor. 1717985 1991