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Details
Link-It Detail - Jax Mouse Phenotype - abnormal proximal convoluted tubule morphology
Debug Stats
  • ### Total Build Time: 131 ms 22.264 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 420 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.584 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=120 ms Completed: 120 ms rowSize= 16.438 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.184 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal proximal convoluted tubule morphology MP:0004756
Definition (1)
any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes; the most distinctive characteristic of the proximal tubule is its brush border (or striated border), not found in the distal convoluted tubule
Synonyms (1)
"abnormal proximal kidney tubule" EXACT
Parents (1)
img abnormal renal tubule morphology MP:0002703
Children (2)
img abnormal proximal convoluted tubule brush border morphology MP:0011350
img dilated proximal convoluted tubules MP:0009050
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img renal/urinary system phenotype MP:00053677img abnormal renal tubule morphology MP:0002703
Genes (70)

Species:
human : 70
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNEK8284086NIMA-related kinase 8
INFERRED
HumanAQP11282679aquaporin 11
Click here to display 75 evidence detail records.
HumanFLCN201163folliculin
INFERRED
HumanLRRK2120892leucine-rich repeat kinase 2
Click here to display 75 evidence detail records.
HumanCOL18A180781collagen, type XVIII, alpha 1
Click here to display 75 evidence detail records.
HumanNEIL179661nei endonuclease VIII-like 1 (E. coli)
Click here to display 75 evidence detail records.
HumanBLOC1S563915biogenesis of lysosomal organelles complex-1, subunit 5, muted
Click here to display 75 evidence detail records.
HumanC1GALT156913core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
Click here to display 75 evidence detail records.
HumanKIRREL55243kin of IRRE like (Drosophila)
INFERRED
HumanTET254790tet methylcytosine dioxygenase 2
Click here to display 75 evidence detail records.
HumanGOLM151280golgi membrane protein 1
Click here to display 75 evidence detail records.
HumanRRM2B50484ribonucleotide reductase M2 B (TP53 inducible)
INFERRED
HumanEHD430844EH-domain containing 4
Click here to display 75 evidence detail records.
HumanINVS27130inversin
INFERRED
HumanWWTR125937WW domain containing transcription regulator 1
INFERRED
HumanRPGRIP1L23322RPGRIP1-like
Click here to display 75 evidence detail records.
HumanSIX210736SIX homeobox 2
Click here to display 75 evidence detail records.
HumanATG59474autophagy related 5
Click here to display 75 evidence detail records.
HumanAP3D18943adaptor-related protein complex 3, delta 1 subunit
Click here to display 75 evidence detail records.
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
Click here to display 75 evidence detail records.
HumanIFT888100intraflagellar transport 88 homolog (Chlamydomonas)
INFERRED
HumanALMS17840Alstrom syndrome 1
Click here to display 75 evidence detail records.
HumanNPHS27827nephrosis 2, idiopathic, steroid-resistant (podocin)
Click here to display 75 evidence detail records.
HumanVEGFA7422vascular endothelial growth factor A
Click here to display 75 evidence detail records.
HumanUROS7390uroporphyrinogen III synthase
Click here to display 75 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004756abnormal proximal convoluted tubule morphology0self