Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. 27503289 2016
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. 27453578 2016
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. 27453579 2016
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. 27453578 2016
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. 27519304 2016
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.400 GermlineCausalMutation disease ORPHANET Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. 27453578 2016
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.400 CausalMutation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.320 GeneticVariation disease BEFREE KIF14 is a mitotic motor protein that is required for spindle localization of the mitotic citron rho-interacting kinase, CIT, also mutated in microcephaly. 29343805 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.320 GeneticVariation disease BEFREE Moreover, CIT-K mutations have recently been linked to the development of human microcephaly, and CIT-K has been identified as a potential target in cancer therapy. 28468989 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.320 Biomarker disease RGD Characterization of seizures in the flathead rat: a new genetic model of epilepsy in early postnatal development. 10219263 1999
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.320 Biomarker disease HPO
CUI: C3809431
Disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE 		0.300 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. 27453578 2016
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.200 Biomarker disease RGD Characterization of seizures in the flathead rat: a new genetic model of epilepsy in early postnatal development. 10219263 1999
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 GeneticVariation disease BEFREE Two consanguineous families segregating the phenotype of severe primary microcephaly, spasticity and failure to thrive had overlapping autozygomes in which exome sequencing identified homozygous splicing variants in CIT that segregate with the phenotype within each family. 27503289 2016
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 GeneticVariation phenotype BEFREE Two consanguineous families segregating the phenotype of severe primary microcephaly, spasticity and failure to thrive had overlapping autozygomes in which exome sequencing identified homozygous splicing variants in CIT that segregate with the phenotype within each family. 27503289 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE A53T SNCA carriers with Parkinson's disease showed a loss of striatal [<sup>123</sup>I]FP-CIT-specific binding ratio compared with healthy controls (p<0·0001). 31229470 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE The utility of the combined use of <sup>123</sup>I-FP-CIT SPECT and neuromelanin MRI in differentiating Parkinson's disease from other parkinsonian syndromes. 29804474 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE F-FP-CIT PET and MRI are not helpful in distinguishing CBD from idiopathic Parkinson disease. 30371594 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE Semiquantitative <sup>123</sup>I-FP-CIT SPECT striatal evaluation combined with SVM represents a promising approach to disentangle PD from non-degenerative conditions and from atypical PS at the early stage. 31037416 2019