MCID: CRG001
MIFTS: 72

Crigler-Najjar Syndrome malady

Metabolic diseases, Liver diseases, Genetic diseases categories

Summaries for Crigler-Najjar Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Crigler najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. this condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. crigler najjar syndrome, type 1 is caused by mutations in the ugt1a1 gene. the condition is inherited in an autosomal recessive manner. treatment relies on regular phototherapy throughout life. blood transfusions and calcium compounds have also been used. liver transplantation may be considered in some individuals.   last updated: 2/8/2011

MalaCards: Crigler-Najjar Syndrome, also known as crigler-najjar syndrome, type i, is related to crigler najjar syndrome, type 2 and gilbert syndrome, and has symptoms including functional anomalies of the liver and the biliary tract, ophthalmoplegia/ophthalmoparesis/oculomotor palsy and troubles of memory/amnesia/hypermnesia. An important gene associated with Crigler-Najjar Syndrome is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1), and among its related pathways are Ifosfamide Pathway, Pharmacokinetics and Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics. The compounds n-acetylbenzidine and acetaminophen glucuronide have been mentioned in the context of this disorder. Affiliated tissues include liver and brain.

Disease Ontology:8 A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (ugt).

Genetics Home Reference:21 Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).

Wikipedia:63 Crigler–Najjar syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical... more...

Description from OMIM:46 218800

Aliases & Classifications for Crigler-Najjar Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Genetic diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

48
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

crigler-najjar syndrome 8 21 44 30 60
crigler-najjar syndrome, type i 8 9 42 46 60
crigler najjar syndrome 8 20 22 21
crigler najjar syndrome, type 1 42 20 22
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 48
familial nonhemolytic unconjugated hyperbilirubinemia 21
hereditary unconjugated hyperbilirubinemia type 1 48
bilirubin udp glucuronyl transferase deficiency 8
hereditary unconjugated hyperbilirubinemia 21
bilirubin-ugt deficiency type 1 48
crigler-najjar syndrome type 1 48
ugt deficiency type 1 48


External Ids:

Disease Ontology8 DOID:3803
OMIM46 218800
NCIt39 C84656
MeSH34 D003414
MESH via Orphanet35 C536212
ICD10 via Orphanet26 E80.5
SNOMED-CT via Orphanet57 8933000
UMLS via Orphanet61 C2931131
ICD1025 E80.5

Related Diseases for Crigler-Najjar Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Crigler-Najjar Syndrome:



Diseases related to crigler-najjar syndrome

Clinical Features for Crigler-Najjar Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

218800

Clinical synopsis from OMIM:

218800

Symptoms:

48 (show all 9)
  • functional anomalies of the liver and the biliary tract
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • troubles of memory/amnesia/hypermnesia
  • hepatitis/icterus/cholestasis
  • hearing loss/hypoacusia/deafness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • motor deficit/trouble
  • autosomal recessive inheritance

Drugs & Therapeutics for Crigler-Najjar Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Crigler-Najjar Syndrome

Drug clinical trials:

Search ClinicalTrials for Crigler-Najjar Syndrome

Search NIH Clinical Center for Crigler-Najjar Syndrome

Search CenterWatch for Crigler-Najjar Syndrome

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Crigler-Najjar Syndrome cell therapies at LifeMap Discovery.

Genetic Tests for Crigler-Najjar Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Crigler-Najjar Syndrome:

id Genetic test Affiliating Genes
1 Crigler-Najjar Syndrome20 22 UGT1A1
2 Crigler-Najjar Syndrome, Type I20
3 Crigler Najjar Syndrome, Type 122

Anatomical Context for Crigler-Najjar Syndrome

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Crigler-Najjar Syndrome:

32
Liver, Brain

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Crigler-Najjar Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Crigler-Najjar Syndrome or affiliated genes

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Publications for Crigler-Najjar Syndrome

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50PubMed
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Articles related to Crigler-Najjar Syndrome:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum. (24401909)
2014
2
UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation. (24286076)
2013
3
Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. (24341141)
2013
4
Role of a homozygous A(TA)a88TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate. (24065680)
2013
5
Intrathecal Baclofen Therapy After Liver Transplant in a Patient With Crigler-Najjar Syndrome. (24365780)
2013
6
Rhabdomyolysis-induced acute renal failure associated with 2009 influenza A (H1N1) virus infection in a child with Crigler-Najjar syndrome. (20828972)
2012
7
Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. (22710376)
2012
8
Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome. (19953640)
2010
9
Liver transplant for Crigler-Najjar syndrome. (20371903)
2010
10
Towards liver-directed gene therapy for Crigler-Najjar syndrome. (19355865)
2009
11
Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature. (19752526)
2009
12
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I. (18376249)
2008
13
Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia. (18555136)
2008
14
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis. (18419642)
2008
15
Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia. (18281749)
2007
16
Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene. (16712705)
2006
17
Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. (16386929)
2006
18
Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China. (15953334)
2005
19
A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]. (16026101)
2005
20
Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type I. (14722376)
2003
21
A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1. (14581810)
2003
22
Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene. (11968090)
2002
23
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. (11330728)
2001
24
Management of Crigler-Najjar Syndrome type I. (11426237)
2001
25
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. (11182932)
2000
26
Crigler-Najjar syndrome, 1952-2000: learning from parents and patients about a very rare disease and using the internet to recruit patients for studies. (10790478)
2000
27
Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II. (10364060)
1999
28
Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide. (10468611)
1999
29
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. (9039987)
1997
30
A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I. (9413009)
1997
31
Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect. (9178703)
1997
32
A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. (7936809)
1994
33
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. (8514037)
1993
34
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. (8276413)
1993
35
Orthotopic auxiliary liver transplantation for Crigler-Najjar syndrome type 1. (7690444)
1993
36
Crigler-Najjar syndrome type I: management with phototherapy crib mattress. (8259886)
1993
37
Anesthetic care of patients with Crigler-Najjar syndrome. (1734784)
1992
38
Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I. (2108190)
1990
39
Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I. (2777735)
1989
40
Crigler-Najjar syndrome: treatment at home with phototherapy. (3227337)
1988
41
Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. (3306242)
1987
42
Crigler-Najjar syndrome type II with kernicterus. (3443510)
1987
43
Liver transplantation in Crigler-Najjar syndrome. A case report. (3523886)
1986
44
Orthotopic liver transplantation for type I Crigler-Najjar syndrome. (3098664)
1986
45
Long term phototherapy in Crigler-Najjar syndrome. (6859942)
1983
46
The presence of a microsomal UDP-glucuronyl transferase for bilirubin in homozygous jaundiced Gunn rats and in the Crigler-Najjar syndrome. (6793495)
1981
47
The effect of repeated phlebotomy on bilirubin turnover, bilirubin clearance and unconjugated hyperbilirubinaemia in the Crigler-Najjar syndrome and the jaundiced Gunn rat: application of computers to experimental design. (1277744)
1976
48
A pigment found in Crigler--Najjar syndrome and its similarity to an ultrafiltrable photoderivative of bilirubin. (4434643)
1974
49
Proceedings: Prolonged survival in the Crigler-Najjar syndrome: ultrastructural and dietary studies. (4434967)
1974
50
Congenital nonhemolytic jaundice (Crigler-Najjar syndrome): report of a case. (13932187)
1963

Genetic Variations for Crigler-Najjar Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Crigler-Najjar Syndrome:

62 (show all 21)
id Symbol AA change Variation ID SNP ID
1UGT1A1p.Cys177ArgVAR_007697
2UGT1A1p.Gly276ArgVAR_007699
3UGT1A1p.Ala292ValVAR_007700
4UGT1A1p.Gly308GluVAR_007701
5UGT1A1p.Gln357ArgVAR_007703
6UGT1A1p.Ala368ThrVAR_007704
7UGT1A1p.Ser375PheVAR_007705
8UGT1A1p.Ser381ArgVAR_007706
9UGT1A1p.Ala401ProVAR_007707
10UGT1A1p.Lys428GluVAR_007708
11UGT1A1p.His39AspVAR_026135
12UGT1A1p.Glu291ValVAR_026138
13UGT1A1p.Arg336LeuVAR_026140
14UGT1A1p.Arg336GlnVAR_026141
15UGT1A1p.His376ArgVAR_026144
16UGT1A1p.Gly377ValVAR_026145
17UGT1A1p.Pro387SerVAR_026146
18UGT1A1p.Gly395ValVAR_026147
19UGT1A1p.Trp461ArgVAR_026149
20UGT1A1p.Lys402ThrVAR_064960
21UGT1A4p.Ser376PheVAR_007711

Expression for genes affiliated with Crigler-Najjar Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Crigler-Najjar Syndrome

Search GEO for disease gene expression data for Crigler-Najjar Syndrome.

Pathways for genes affiliated with Crigler-Najjar Syndrome

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Sources:
49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG, 4Cell Signaling Technology, 51QIAGEN
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Pathways related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9UGT1A9, UGT1A1
2
Hide members
9.9UGT1A1, UGT1A9
3
Hide members
9.9UGT1A4, UGT1A9
49.9UGT1A9, UGT1A4
59.9UGT1A1, UGT1A6
6
Hide members
9.9UGT1A9, UGT1A6
7
Hide members
9.7UGT1A9, UGT1A4, UGT1A1
89.6UGT1A9, UGT1A4, UGT1A6
99.4OTC, GPT, CNDP2
10
Hide members
9.4UGT1A1, UGT1A6, UGT1A4, UGT1A9
11
Hide members
9.4UGT1A1, UGT1A6, UGT1A4, UGT1A9
12
Hide members
9.4UGT1A9, UGT1A4, UGT1A6, UGT1A1
13
Hide members
9.4UGT1A9, UGT1A4, UGT1A6, UGT1A1
14
Acetaminophen metabolism
Hide members
9.4UGT1A9, UGT1A4, UGT1A6, UGT1A1
15
Hide members
9.4UGT1A9, UGT1A4, UGT1A6, UGT1A1
16
Hide members
9.1SOX2, POU5F1, NANOG
179.1NANOG, POU5F1, SOX2
189.1NANOG, POU5F1, SOX2
199.1SOX2, POU5F1, NANOG
209.1SOX2, POU5F1, NANOG
219.1NANOG, POU5F1, SOX2
229.1NANOG, POU5F1, SOX2
239.1NANOG, POU5F1, SOX2
249.1NANOG, POU5F1, SOX2
25
Hide members
9.0NT5C1A, NT5C2
26
Hide members
9.0UGT1A9, UGT1A4, UGT1A6, UGT1A1, CNDP2
27
Hide members
7.6UGT1A9, UGT1A4, UGT1A6, UGT1A1, NT5C1A, NT5C2

Compounds for genes affiliated with Crigler-Najjar Syndrome

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 91)
idCompoundScoreTop Affiliating Genes
1n-acetylbenzidine4410.0UGT1A4, UGT1A9, UGT1A1
2acetaminophen glucuronide44 2411.0UGT1A9, UGT1A6, UGT1A1
3Ezogabine 119.9UGT1A9, UGT1A1, UGT1A4
4n-hydroxy-n-acetylbenzidine449.9UGT1A9, UGT1A4
5ethyl glucuronide44 2410.8UGT1A9, UGT1A6, UGT1A1, UGT1A4
6bilirubin diglucuronide44 2410.8UGT1A4, UGT1A1, UGT1A9, UGT1A6
7(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)249.8UGT1A9, UGT1A4, UGT1A6, UGT1A1
8etiocholanolone44 2410.8UGT1A6, UGT1A1, UGT1A9, UGT1A4
9aldosterone 18-glucuronide44 2410.8UGT1A6, UGT1A1, UGT1A4, UGT1A9
10androsterone glucuronide44 2410.7UGT1A4, UGT1A6, UGT1A1, UGT1A9
113-alpha-androstanediol glucuronide44 2410.7UGT1A1, UGT1A6, UGT1A4, UGT1A9
12sn38 glucuronide449.7UGT1A9, UGT1A, UGT1A1
13estriol28 11 2411.7UGT1A6, UGT1A9, UGT1A4, UGT1A1
14codeine44 49 28 11 2413.7UGT1A6, UGT1A9, UGT1A4, UGT1A1
152-methoxyestradiol44 59 2411.7UGT1A6, UGT1A4, UGT1A1, UGT1A9
16udp glucuronic acid449.6UGT1A6, UGT1A1, UGT1A
17lamotrigine44 1110.5UGT1A6, UGT1A, UGT1A4, UGT1A1
181-naphthol449.5UGT1A9, UGT1A6, UGT1A, UGT1A1
194-methylumbelliferone449.5UGT1A, UGT1A1, UGT1A6, UGT1A9
20flurbiprofen44 28 49 1112.5UGT1A, UGT1A1, UGT1A9
21phip449.5UGT1A, UGT1A9, UGT1A4, UGT1A1
22buprenorphine44 28 1111.5UGT1A, UGT1A9, UGT1A1
23beta-naphthoflavone44 1110.5UGT1A6, UGT1A1, UGT1A9, UGT1A
24phenol44 2410.4UGT1A, UGT1A1, UGT1A6, UGT1A9
25sn 3844 5910.4UGT1A1, UGT1A, UGT1A9
26benzo(a)pyrene449.4UGT1A, UGT1A9, UGT1A6, UGT1A1
27mycophenolate mofetil44 49 1111.4UGT1A, UGT1A9, GPT, UGT1A1
28mycophenolic acid44 49 1111.3UGT1A1, UGT1A9, UGT1A
29irinotecan44 49 1111.3UGT1A, UGT1A9, UGT1A6, UGT1A1
30n-hydroxy phip449.3UGT1A, UGT1A6, UGT1A9, UGT1A1, UGT1A4
31rifampicin44 28 5911.3UGT1A, UGT1A6, UGT1A1, GPT
32glucuronide449.3UGT1A4, UGT1A6, UGT1A1, UGT1A9, UGT1A
33benzidine449.3UGT1A1, UGT1A, UGT1A6, UGT1A4, UGT1A9
34cotinine44 2410.3UGT1A1, UGT1A6, UGT1A4, UGT1A9, UGT1A
35p-nitrophenol44 1110.3UGT1A9, UGT1A1, UGT1A6, UGT1A4, UGT1A
36uridine diphosphate449.3UGT1A1, UGT1A6, UGT1A9, UGT1A4, UGT1A
37trifluoperazine44 28 1111.3UGT1A1, UGT1A6, UGT1A9, UGT1A, UGT1A4
38propofol44 49 1111.3UGT1A1, UGT1A4, UGT1A6, UGT1A9, UGT1A
39diclofenac44 28 49 1112.3UGT1A, UGT1A1, UGT1A6, UGT1A4, UGT1A9
40imipramine44 49 28 11 2413.2UGT1A1, UGT1A4, UGT1A9, UGT1A, UGT1A6
41estrone44 28 11 2412.2UGT1A4, UGT1A, UGT1A9, UGT1A6, UGT1A1
42morphine44 49 28 1112.2UGT1A, UGT1A6, UGT1A4, UGT1A9, UGT1A1
43tamoxifen44 49 28 1112.0UGT1A9, UGT1A6, UGT1A1, UGT1A4, UGT1A
44acetaminophen44 2 49 11 2412.9UGT1A9, UGT1A6, UGT1A1, GPT, UGT1A, UGT1A4
45troglitazone44 28 59 1111.9GPT, UGT1A1, UGT1A, UGT1A6, UGT1A9, UGT1A4
46nicotine44 49 28 1111.9UGT1A6, UGT1A9, UGT1A4, GPT, UGT1A1, UGT1A
47valproic acid44 49 11 2411.6UGT1A, UGT1A9, UGT1A4, UGT1A1, OTC, GPT
48estradiol44 11 2410.5UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
49retinoic acid44 249.2UGT1A1, UGT1A4, POU5F1, UGT1A6, UGT1A9, UGT1A
50uridine44 11 249.9UGT1A, NT5C2, UGT1A6, UGT1A9, UGT1A4, UGT1A1

GO Terms for genes affiliated with Crigler-Najjar Syndrome

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16Gene Ontology
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Biological processes related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1xenobiotic glucuronidationGO:05269710.1UGT1A9, UGT1A1
2flavonoid glucuronidationGO:05269610.1UGT1A9, UGT1A1
3flavone metabolic processGO:05155210.1UGT1A9, UGT1A1
4retinoic acid metabolic processGO:04257310.0UGT1A1, UGT1A9
5negative regulation of catalytic activityGO:0430869.9UGT1A1, UGT1A9
6cellular glucuronidationGO:0526959.9UGT1A1, UGT1A6, UGT1A4
7metabolic processGO:0081529.6UGT1A6, UGT1A9
8endodermal cell fate specificationGO:0017149.4NANOG, POU5F1, SOX2
9drug metabolic processGO:0171449.4NT5C2, UGT1A1, UGT1A9
10cellular nitrogen compound metabolic processGO:0346419.3CNDP2, GPT, OTC
11somatic stem cell maintenanceGO:0350199.3SOX2, POU5F1, NANOG
12regulation of gene expressionGO:0104689.3NANOG, POU5F1, SOX2
13xenobiotic metabolic processGO:0068059.3UGT1A9, UGT1A4, UGT1A6, UGT1A1, CNDP2
14purine nucleotide catabolic processGO:0061959.1NT5C1A, NT5C2
15purine nucleobase metabolic processGO:0061449.0NT5C2, NT5C1A
16small molecule metabolic processGO:0442817.2OTC, UGT1A9, UGT1A4, UGT1A6, UGT1A1, NT5C1A

Molecular functions related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1enzyme inhibitor activityGO:0048579.6UGT1A1, UGT1A9
2miRNA bindingGO:0351989.6POU5F1, SOX2
3retinoic acid bindingGO:0019729.5UGT1A1, UGT1A6, UGT1A4, UGT1A9
4glucuronosyltransferase activityGO:0150209.5UGT1A9, UGT1A4, UGT1A1, UGT1A6
5enzyme bindingGO:0198999.4UGT1A4, UGT1A9, UGT1A6, UGT1A1
6protein homodimerization activityGO:0428039.4UGT1A4, UGT1A9, UGT1A1, UGT1A6
7protein heterodimerization activityGO:0469829.3UGT1A4, UGT1A6, UGT1A1, UGT1A9

Products for genes affiliated with Crigler-Najjar Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Crigler-Najjar Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet