AutismKB 2.0

Annotation Details for NDP


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Basic Information Top
Gene Symbol:NDP ( EVR2,FEVR,ND )
Gene Full Name: Norrie disease (pseudoglioma)
Band: Xp11.3
Quick LinksEntrez ID:4693; OMIM: 300658; Uniprot ID:NDP_HUMAN; ENSEMBL ID: ENSG00000124479; HGNC ID: 7678
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615IDA-extracellular space17955262
GO:0009986IDA-cell surface17955262
GO:0031012IDA-extracellular matrix15035989
GO ID Evidence Qualifier GO_term References
GO:0005109IPI-frizzled binding17955262
GO:0005125IBA-cytokine activity-
GO:0005515IPI-protein binding17955262
GO:0008083TAS-growth factor activity8298646
GO:0042803IPI-protein homodimerization activity17955262
GO ID Evidence Qualifier GO_term References
GO:0001890IEA-placenta development-
GO:0007033TAS-vacuole organization10484772
GO:0007165TAS-signal transduction8298646
GO:0007267TAS-cell-cell signaling8298646
GO:0007399TAS-nervous system development8252044
GO:0007601IEA-visual perception-
GO:0007605NAS-sensory perception of sound8298646
GO:0008283TAS-cell proliferation8298646
GO:0016055IDA-Wnt signaling pathway17955262
GO:0035426IEA-extracellular matrix-cell signaling-
GO:0045893IDA-positive regulation of transcription, DNA-templated15035989
GO:0051091IEA-positive regulation of sequence-specific DNA binding transcription factor activity-
GO:0060070IDA-canonical Wnt signaling pathway15035989
GO:0061299IEA-retina vasculature morphogenesis in camera-type eye-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:102570
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018