OMIM Entry Search - KIDINS220

Search: 'KIDINS220'

Results: 4 entries.

* 615759. KINASE D-INTERACTING SUBSTRATE, 220-KD; KIDINS220
Cytogenetic location: 2p25.1, Genomic coordinates (GRCh38): 2:8,728,856-8,837,624
Matching terms: kidins220
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p25.1	Spastic paraplegia, intellectual disability, nystagmus, and obesity	617296	AD	3

Links
Testing Gene Tests GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources Gene Tests GTR	Variation 1000 Genome ClinVar ExAC GWAS Catalog GWAS Central HGMD HGVS NHLBI EVS PharmGKB	Animal Models FlyBase IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

# 617296. SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO
Cytogenetic location: 2p25.1
Matching terms: kidins220
► Phenotype-Gene Relationships ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2p25.1	Spastic paraplegia, intellectual disability, nystagmus, and obesity	617296	AD	3	KIDINS220	615759

Links
Testing GTR	Protein UniProt	Clinical Resources Clinical Trials GTR POSSUM	Animal Models NCBI HomoloGene

* 605435. PROTEIN KINASE D1; PRKD1
Cytogenetic location: 14q12, Genomic coordinates (GRCh38): 14:29,576,478-29,927,692
Matching terms: kidins220
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q12	Congenital heart defects and ectodermal dysplasia	617364	AD	3

Links
Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Variation 1000 Genome ClinVar ExAC GWAS Catalog GWAS Central HGMD HGVS NHLBI EVS PharmGKB	Animal Models IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

* 600025. KINESIN LIGHT CHAIN 1; KLC1
Cytogenetic location: 14q32.33, Genomic coordinates (GRCh38): 14:103,629,187-103,701,550
Matching terms: kidins220
► Links

Links
Testing GTR	Genome Ensembl NCBI Map Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein HPRD Human Protein Atlas UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG NCBI Gene UCSC	Clinical Resources GTR	Variation 1000 Genome ClinVar ExAC GWAS Catalog GWAS Central HGVS NHLBI EVS PharmGKB	Animal Models FlyBase IMPC KOMP MGI Mouse Gene NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

Search: KIDINS220

Results: 4 entries.

* 615759. KINASE D-INTERACTING SUBSTRATE, 220-KD; KIDINS220
Cytogenetic location: 2p25.1, Genomic coordinates (GRCh38): 2:8,728,856-8,837,624
Matching terms: kidins220
Gene-Phenotype Relationships

# 617296. SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO
Cytogenetic location: 2p25.1
Matching terms: kidins220
Phenotype-Gene Relationships

* 605435. PROTEIN KINASE D1; PRKD1
Cytogenetic location: 14q12, Genomic coordinates (GRCh38): 14:29,576,478-29,927,692
Matching terms: kidins220
Gene-Phenotype Relationships

* 600025. KINESIN LIGHT CHAIN 1; KLC1
Cytogenetic location: 14q32.33, Genomic coordinates (GRCh38): 14:103,629,187-103,701,550
Matching terms: kidins220