Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
0.410 GeneticVariation disease BEFREE Autosomal recessive mutations in KIAA1279 cause a rare neurological disorder, Goldberg-Shprintzen syndrome (GOSHS), characterized by microcephaly, polymicrogyria, intellectual disability, axonal neuropathy, thin corpus callosum and peripheral neuropathy. 31736709 2019
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
0.410 Biomarker disease CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
0.410 Biomarker disease HPO