KIF7, kinesin family member 7, 374654

N. diseases: 195; N. variants: 27
Disease: Acrocallosal Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease BEFREE We previously identified KIF7, a key ciliary component of the Sonic hedgehog (SHH) pathway, as being a causative gene for this syndrome, thus including ACLS in the group of ciliopathies. 30445565 2019
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease BEFREE We describe association of olfactory bulb and olfactory tract abnormalities in a child with acrocallosal syndrome caused by kinesin family membrane 7 (KIF7) mutation in sonic hedgehog pathway. 31399769 2019
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease BEFREE Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). 29321670 2018
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 CausalMutation disease CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease BEFREE Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. 26174511 2015
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease UNIPROT The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, enlarged ventricles, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation. 26174511 2015
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease CLINVAR Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. 26648833 2015
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease BEFREE The finding of known loss of function variants in ciliopathy associated genes, AHI1, BBS2 and BBS4 in addition to KIF7 mutations provides evidence for oligogenic inheritance in ACLS and suggests that this might contribute to the phenotypic variability of KIF7-related disorders. 23142271 2013
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GermlineCausalMutation disease ORPHANET The finding of known loss of function variants in ciliopathy associated genes, AHI1, BBS2 and BBS4 in addition to KIF7 mutations provides evidence for oligogenic inheritance in ACLS and suggests that this might contribute to the phenotypic variability of KIF7-related disorders. 23142271 2013
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease BEFREE We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies. 23125460 2012
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease UNIPROT We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies. 23125460 2012
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease BEFREE Our analysis resulted in the identification of a homozygous p.N1060S missense mutation in a highly conserved residue in KIF7, a regulator of Hedgehog signaling that has been recently found to be causing Joubert syndrome, fetal hydrolethalus and acrocallosal syndromes. 22587682 2012
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease CTD_human Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. 21552264 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease CLINVAR Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. 21552264 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GermlineCausalMutation disease ORPHANET Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. 21552264 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease GENOMICS_ENGLAND Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease UNIPROT Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. 21552264 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease CLINVAR Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 GeneticVariation disease BEFREE Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. 21552264 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease GENOMICS_ENGLAND Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. 21552264 2011
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker disease GENOMICS_ENGLAND Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164 2011