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Details
Link-It Detail - Human Phenotype - Abnormality of aspartate family amino acid metabolism
Debug Stats
  • ### Total Build Time: 12 ms 21.214 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 228 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 232 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 457 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 1.106 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 2.109 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 15.911 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.047 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of aspartate family amino acid metabolism HP:0010899
Definition (1)
Abnormality of a `aspartate family amino acid metabolic process` (GO:0009066).
Parents (1)
img Abnormality of amino acid metabolism HP:0004337
Children (3)
img Abnormality of methionine metabolism HP:0010901
img Abnormality of lysine metabolism HP:0010908
img Abnormality of threonine metabolism HP:0010900
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of amino acid metabolism HP:0004337
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of amino acid metabolism HP:0004337
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanLMBRD155788LMBR1 domain containing 1
img HP RolledUp, OMIM ID: 277380
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
img HP RolledUp, OMIM ID: 277410
HumanGNMT27232glycine N-methyltransferase
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
img HP RolledUp, OMIM ID: 277400
HumanSLC7A911136solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
img HP RolledUp, OMIM ID: 220100
HumanSLC25A1310165solute carrier family 25 (aspartate/glutamate carrier), member 13
HumanAASS10157aminoadipate-semialdehyde synthase
img HP RolledUp, OMIM ID: 268700
img HP RolledUp, OMIM ID: 238700
HumanTTC379652tetratricopeptide repeat domain 37
img HP RolledUp, OMIM ID: 222470
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
img HP RolledUp, OMIM ID: 220100
HumanABCD45826ATP-binding cassette, sub-family D (ALD), member 4
img HP RolledUp, OMIM ID: 614857
HumanMTRR45525-methyltetrahydrofolate-homocysteine methyltransferase reductase
img HP RolledUp, OMIM ID: 236270
HumanMTR45485-methyltetrahydrofolate-homocysteine methyltransferase
img HP RolledUp, OMIM ID: 156570
img HP RolledUp, OMIM ID: 250940
HumanMAT1A4143methionine adenosyltransferase I, alpha
img HP RolledUp, OMIM ID: 250850
HumanGUCY2D3000guanylate cyclase 2D, membrane (retina-specific)
img HP RolledUp, OMIM ID: 204000
HumanFAH2184fumarylacetoacetate hydrolase (fumarylacetoacetase)
img HP RolledUp, OMIM ID: 276700
HumanDECR116662,4-dienoyl CoA reductase 1, mitochondrial
img HP RolledUp, OMIM ID: 222745
HumanARG1383arginase 1
img HP RolledUp, OMIM ID: 207800
HumanAHCY191adenosylhomocysteinase
img HP RolledUp, OMIM ID: 613752
img HP RolledUp, OMIM ID: 180960
HumanADK132adenosine kinase
img HP RolledUp, OMIM ID: 614300
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010899Abnormality of aspartate family amino acid metabolism0self