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Details
Link-It Detail - Human Phenotype - Abnormality of amino acid metabolism
Debug Stats
  • ### Total Build Time: 48 ms 36.272 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=1 ms Completed: 1 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= 802 bytes
  • CONCEPT_CHILDREN gt=18 ms Completed: 18 ms rowSize= 7.780 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.115 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 24.213 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of amino acid metabolism HP:0004337
Parents (2)
img Abnormality of metabolism/homeostasis HP:0001939
img Abnormality of carboxylic acid metabolism HP:0004354
Children (23)
img Abnormality of leucine metabolism HP:0004357
img Hydroxyprolinemia HP:0003260
img Abnormality of tryptophan metabolism HP:0004365
img Abnormality of histidine family amino acid metabolism HP:0010904
img Aminoaciduria HP:0003355
img Abnormality of serum amino acid levels HP:0003112
img Hyperglutaminemia HP:0003217
img Abnormality of aromatic amino acid family metabolism HP:0004338
img Abnormality of glutamine family amino acid metabolism HP:0010902
img Abnormality of aspartate family amino acid metabolism HP:0010899
img Abnormality of pyruvate family amino acid metabolism HP:0010915
img Abnormality of ornithine metabolism HP:0012025
img Elevated plasma branched chain amino acids HP:0008344
img Propionyl-CoA carboxylase deficiency HP:0003353
img Abnormality of sulfur amino acid metabolism HP:0004339
img Abnormality of branched chain family amino acid metabolism HP:0010892
img Decreased methylmalonyl-CoA mutase activity HP:0003210
img Hypoargininemia HP:0005961
img Reduced phenylalanine hydroxylase activity HP:0005982
img Abnormality of serine family amino acid metabolism HP:0010894
img Abnormality of citrulline metabolism HP:0011965
img Hyperprolinemia HP:0008358
img Abnormality of creatine metabolism HP:0012113
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of carboxylic acid metabolism HP:0004354
Genes (169)

Species:
human : 169
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanDEL11P15P14100240736Chromosome 11p15-p14 deletion syndrome
img HP RolledUp, OMIM ID: 606528
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img HP RolledUp, OMIM ID: 600721
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanSLC6A19340024solute carrier family 6 (neutral amino acid transporter), member 19
img HP RolledUp, OMIM ID: 242600
img HP RolledUp, OMIM ID: 234500
img HP RolledUp, OMIM ID: 138500
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanACSF3197322acyl-CoA synthetase family member 3
img HP RolledUp, OMIM ID: 614265
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanSLC36A2153201solute carrier family 36 (proton/amino acid symporter), member 2
img HP RolledUp, OMIM ID: 242600
img HP RolledUp, OMIM ID: 138500
HumanGLYCTK132158glycerate kinase
img HP RolledUp, OMIM ID: 220120
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img HP RolledUp, OMIM ID: 610198
HumanPDB494003Paget disease of bone 4
img HP RolledUp, OMIM ID: 602080
HumanATPAF291647ATP synthase mitochondrial F1 complex assembly factor 2
img HP RolledUp, OMIM ID: 604273
HumanCOX1484987cytochrome c oxidase assembly homolog 14 (S. cerevisiae)
img HP RolledUp, OMIM ID: 220110
HumanSERAC184947serine active site containing 1
img HP RolledUp, OMIM ID: 614739
HumanMCEE84693methylmalonyl CoA epimerase
img HP RolledUp, OMIM ID: 251120
HumanC7orf1079783chromosome 7 open reading frame 10
img HP RolledUp, OMIM ID: 231690
HumanSLC52A279581solute carrier family 52 (riboflavin transporter), member 2
img HP RolledUp, OMIM ID: 614707
HumanFRTS65211Fanconi renotubular syndrome
img HP RolledUp, OMIM ID: 134600
HumanMCCC264087methylcrotonoyl-CoA carboxylase 2 (beta)
img HP RolledUp, OMIM ID: 210210
HumanMRXSA57791Armfield X-linked mental retardation syndrome
img HP RolledUp, OMIM ID: 300261
HumanC10orf256652chromosome 10 open reading frame 2
img HP RolledUp, OMIM ID: 251880
HumanLMBRD155788LMBR1 domain containing 1
img HP RolledUp, OMIM ID: 277380
HumanAGK55750acylglycerol kinase
img HP RolledUp, OMIM ID: 212350
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 214100
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004337Abnormality of amino acid metabolism0self