KIFBP, kinesin family binding protein, 26128

N. diseases: 83; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease BEFREE Our findings indicate that loss of KBP function leads to defects in neuronal migration, morphogenesis, maturation, and survival, which may be responsible for brain phenotypes observed in GOSHS. 31736709 2019
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 CausalMutation disease CLINVAR Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. 28277559 2017
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. 28277559 2017
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease MGD Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death. 29192291 2017
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. 28277559 2017
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease BEFREE We hypothesize that an axonal sensory motor neuropathy may be part of the phenotypical spectrum of KIAA1279-related GOSHS, probably reflecting the effects of reduced KBP protein expression on peripheral neuronal function. 25846562 2015
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 GeneticVariation disease BEFREE Goldberg-Shprintzen syndrome and the Say-Barber-Biesecker-Young-Simpson type of Ohdo syndrome were suspected but direct sequencing of KBP and KAT6B failed to identify a mutation. 24715367 2014
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 AlteredExpression disease BEFREE KBP expression directly affected neurite growth in a neuron-like cell line (human neuroblastoma SH-SY5Y), in keeping with the central (polymicrogyria) and enteric (HSCR) neuronal developmental defects seen in GOSHS patients. 23427148 2013
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 GermlineCausalMutation disease ORPHANET KBP expression directly affected neurite growth in a neuron-like cell line (human neuroblastoma SH-SY5Y), in keeping with the central (polymicrogyria) and enteric (HSCR) neuronal developmental defects seen in GOSHS patients. 23427148 2013
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease BEFREE Recently, we found that KBP, encoded by the gene involved in a HSCR- associated syndrome called Goldberg-Shprintzen syndrome, interacts with SCG10, a stathmin-like protein. 21187955 2010
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease BEFREE Thus, our data indicate that KBP is involved in neuronal differentiation and that the central and enteric nervous system defects seen in GOSHS are likely caused by microtubule-related defects. 20621975 2010
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 GermlineCausalMutation disease ORPHANET Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Hirschsprung megacolon and cleft palate in two sibs. 7338549 1981
CUI: C0025958
Disease: Microcephaly
Microcephaly 		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
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.410 Biomarker disease CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.410 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.300 Biomarker disease CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.300 Biomarker disease CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005