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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hypolipoproteinemia
  

Disease ID 1961
Disease hypolipoproteinemia
Definition
presence of abnormally low levels of lipoproteins in the serum.
Synonym
deficiency lipoprotein
hypolipoproteinaemia
hypolipoproteinaemia (disorder)
hypolipoproteinemia (disorder)
hypolipoproteinemias
hypolipoproteinemias [disease/finding]
lack of fat in blood
lipoprotein deficiencies
lipoprotein deficiency
lipoprotein deficiency disorder
lipoprotein deficiency disorder (disorder)
lipoprotein deficiency nos
lipoprotein deficiency nos (disorder)
DOID
ICD10
UMLS
C0020623
MeSH
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:7)
338  |  APOB  |  GHR
255738  |  PCSK9  |  GHR
19  |  ABCA1  |  GHR
3931  |  LCAT  |  GHR
27329  |  ANGPTL3  |  GHR
4547  |  MTTP  |  GHR
4018  |  LPA  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:58)
19  |  ABCA1  |  7.101  |  DISEASES
154664  |  ABCA13  |  2.203  |  DISEASES
20  |  ABCA2  |  1.582  |  DISEASES
24  |  ABCA4  |  3.068  |  DISEASES
340273  |  ABCB5  |  3.478  |  DISEASES
4363  |  ABCC1  |  1.075  |  DISEASES
9619  |  ABCG1  |  3.359  |  DISEASES
27329  |  ANGPTL3  |  5.176  |  DISEASES
336  |  APOA2  |  5.408  |  DISEASES
337  |  APOA4  |  1.817  |  DISEASES
344  |  APOC2  |  4.115  |  DISEASES
347  |  APOD  |  1.915  |  DISEASES
319  |  APOF  |  2.28  |  DISEASES
54840  |  APTX  |  2.48  |  DISEASES
10139  |  ARFRP1  |  2.566  |  DISEASES
85300  |  ATCAY  |  1.954  |  DISEASES
2972  |  BRF1  |  1.7  |  DISEASES
1056  |  CEL  |  1.104  |  DISEASES
9557  |  CHD1L  |  2.462  |  DISEASES
22796  |  COG2  |  3.059  |  DISEASES
55157  |  DARS2  |  1.961  |  DISEASES
28514  |  DLL1  |  1.109  |  DISEASES
83658  |  DYNLRB1  |  2.238  |  DISEASES
2266  |  FGG  |  1.209  |  DISEASES
122786  |  FRMD6  |  1.361  |  DISEASES
2395  |  FXN  |  1.378  |  DISEASES
338328  |  GPIHBP1  |  2.449  |  DISEASES
3141  |  HLCS  |  2.174  |  DISEASES
10525  |  HYOU1  |  1.169  |  DISEASES
3476  |  IGBP1  |  1.173  |  DISEASES
3792  |  KEL  |  1.229  |  DISEASES
3949  |  LDLR  |  2.473  |  DISEASES
26119  |  LDLRAP1  |  1.895  |  DISEASES
4018  |  LPA  |  6.167  |  DISEASES
50488  |  MINK1  |  1.331  |  DISEASES
4675  |  NAP1L3  |  2.794  |  DISEASES
25934  |  NIPSNAP3A  |  3.152  |  DISEASES
55335  |  NIPSNAP3B  |  2.838  |  DISEASES
10062  |  NR1H3  |  2.393  |  DISEASES
5034  |  P4HB  |  3.766  |  DISEASES
54625  |  PARP14  |  1.854  |  DISEASES
9159  |  PCSK7  |  1.063  |  DISEASES
5360  |  PLTP  |  3.141  |  DISEASES
5406  |  PNLIP  |  1.575  |  DISEASES
53635  |  PTOV1  |  1.484  |  DISEASES
391  |  RHOG  |  1.596  |  DISEASES
26278  |  SACS  |  2.33  |  DISEASES
51128  |  SAR1B  |  4.798  |  DISEASES
11005  |  SPINK5  |  1.622  |  DISEASES
6720  |  SREBF1  |  1.473  |  DISEASES
6721  |  SREBF2  |  1.536  |  DISEASES
6432  |  SRSF7  |  2.103  |  DISEASES
7003  |  TEAD1  |  1.662  |  DISEASES
7127  |  TNFAIP2  |  1.5  |  DISEASES
29914  |  UBIAD1  |  1.443  |  DISEASES
7391  |  USF1  |  1.197  |  DISEASES
23230  |  VPS13A  |  1.989  |  DISEASES
7753  |  ZNF202  |  2.291  |  DISEASES
Locus(Waiting for update.)
Disease ID 1961
Disease hypolipoproteinemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1961
Disease hypolipoproteinemia
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1961
Disease hypolipoproteinemia
Case(Waiting for update.)