Debug Stats | ### Total Build Time: 47 ms 47.265 KB CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 332 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 343 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= 188 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 547 bytesCONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 553 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.091 KBCONCEPT_RELATIONSHIPS gt=25 ms Completed: 24 ms rowSize= 14.286 KBCONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 25.792 KBCONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.151 KBCONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes- Reload Stats
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Genes (27)
Species: human : 27 | |
Human | CDAN1 | 146059 | codanin 1 | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | HBA@ | 83587 | | Hemoglobin (Hb) Korle-Bu (beta73; Asp-Asn) gene deletion with a 3.7-kb deletional alpha-thalassemia in Thai patients Hb G-San Jose variant levels correlate with alpha-thalassemia genotypes | Human | HBB@ | 64162 | | Hemoglobin (Hb) Korle-Bu (beta73; Asp-Asn) gene deletion with a 3.7-kb deletional alpha-thalassemia in Thai patients | Human | ALG1 | 56052 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | SLC17A5 | 26503 | solute carrier family 17 (acidic sugar transporter), member 5 | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | BSND | 7809 | Bartter syndrome, infantile, with sensorineural deafness (Barttin) | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | TALDO1 | 6888 | transaldolase 1 | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | PTH1R | 5745 | parathyroid hormone 1 receptor | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | PKLR | 5313 | pyruvate kinase, liver and RBC | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | NEU1 | 4758 | sialidase 1 (lysosomal sialidase) | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | HBD | 3045 | hypophosphatemic bone disease | The atomic coordinates of the delta-chain of hemoglobin A2 (R2 state) are used to model the structure of hemoglobin homotetramer delta 4, which occurs in rare hemoglobin H disease | Human | HBB | 3043 | hemoglobin, beta | Coinheritance of alpha-thalassemia with beta 0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of alpha-globin gene triplication in severe thalassemia; the mean steady-stat hemoglobin was alsoe higher study of mutations on severity in beta-thalassemia patients; effects of alpha-thalassemia In alpha-thalassemia, alpha/beta-globin mRNA ratio correlated with the number of functional alpha-globin genes present, whereas in beta-thalassemia, the ratio provided a good indicator of disease severity | Human | HBA2 | 3040 | hemoglobin, alpha 2 | in alpha-thalassemia, transcription of antisense RNA mediates silencing and methylation of the associated CpG island of the HBA2 gene Alpha-thalassemia mutations in Iranian individuals are not found in HBA2 Finds hemoglobin H disease involving the alpha-2-globin mutation (AATAAA-->AATAAG) is a mild thal intermedia phenotype among Kuwaitis Coinheritance of alpha-thalassemia with beta 0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of alpha-globin gene triplication in severe thalassemia | Human | HBA1 | 3039 | hemoglobin, alpha 1 | study of mutations on severity in beta-thalassemia patints: efffects of alpha- thalassemia searched for -alpha(3.7) and -alpha(4.2) alpha(+)-thalassemia deletion alleles, as well as the alpha alpha alpha(anti3.7) triplication through long-gap PCR four Greek cases with a similar atypical thalassemia intermedia phenotype; in all four cases, alpha(+)-thalassemia (alpha(+)-thal) mutations in trans to the in frame 3 bp deletion (-CCC) on the alpha1-globin gene between codons 36 & 37 was identified | Human | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | GUSB | 2990 | glucuronidase, beta | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | GLE1 | 2733 | GLE1 RNA export mediator | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | GBE1 | 2632 | glucan (1,4-alpha-), branching enzyme 1 | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | GBA | 2629 | glucosidase, beta, acid | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | FLT4 | 2324 | fms-related tyrosine kinase 4 | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | ERBB3 | 2065 | v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | SLC26A2 | 1836 | solute carrier family 26 (anion exchanger), member 2 | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | COL2A1 | 1280 | collagen, type II, alpha 1 | INFERRED, Score=800, UMLKSK CUI: C0002312 | Human | CLCNKB | 1188 | chloride channel, voltage-sensitive Kb | INFERRED, Score=800, UMLKSK CUI: C0002312 |
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