BRIC2
MCID: CHL118
MIFTS: 44

Cholestasis, Benign Recurrent Intrahepatic, 2 (BRIC2)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic, 2:

Name: Cholestasis, Benign Recurrent Intrahepatic, 2 57 75 13
Benign Recurrent Intrahepatic Cholestasis 2 12 53 29 6 15
Bric2 57 12 53 59 75
Cholestasis, Benign Recurrent Intrahepatic 2 53 73
Bric Type 2 12 59
Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 40
Benign Recurrent Intrahepatic Cholestasis Type 2 59
Recurrent Familial Intrahepatic Cholestasis 2 53
Mild Abcb11 Deficiency 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
onset in first 2 decades
precipitating factors include viral illness and pregnancy
allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, )


HPO:

32
cholestasis, benign recurrent intrahepatic, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 605479
Disease Ontology 12 DOID:0070232
Orphanet 59 ORPHA99961
UMLS via Orphanet 74 C3489789 C2608083
MESH via Orphanet 45 C535931
ICD10 via Orphanet 34 K83.1
MedGen 42 C2608083
MeSH 44 D002780

Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot : 75 Cholestasis, benign recurrent intrahepatic, 2: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

MalaCards based summary : Cholestasis, Benign Recurrent Intrahepatic, 2, also known as benign recurrent intrahepatic cholestasis 2, is related to cholestasis, benign recurrent intrahepatic, 1 and cholestasis, progressive familial intrahepatic, 2. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Human cytomegalovirus infection and PI3K-Akt signaling pathway. Affiliated tissues include liver and testes, and related phenotypes are hepatomegaly and pruritus

Disease Ontology : 12 A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31.

OMIM : 57 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically (van Mil et al., 2004). (605479)

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

Diseases in the Progressive Familial Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 1 31.8 ABCB11 ATP8B1
2 cholestasis, progressive familial intrahepatic, 2 30.6 ABCB11 ATP8B1
3 cholestasis 10.4
4 atp8b1 deficiency 10.2 ABCB11 ATP8B1
5 cholestasis, progressive familial intrahepatic, 4 10.1 ABCB11 ATP8B1
6 cholestasis, progressive familial intrahepatic, 3 10.1 ABCB11 ATP8B1
7 alagille syndrome 1 10.1 ABCB11 ATP8B1
8 cholestasis, progressive familial intrahepatic, 1 10.1 ABCB11 ATP8B1
9 progressive familial intrahepatic cholestasis 10.1 ABCB11 ATP8B1
10 bile duct disease 10.1 ABCB11 ATP8B1
11 biliary tract disease 10.0 ABCB11 ATP8B1
12 caspase 8 deficiency 9.9 CASP10 CASP8
13 chronic mountain sickness 9.9 CASP8 CASP9
14 cardiomyopathy, familial hypertrophic, 1 9.9 CASP1 CASP10
15 juvenile amyotrophic lateral sclerosis 9.9 CASP10 CASP8
16 dystrophinopathies 9.9 CASP8 CASP9
17 cowpox 9.9 CASP1 CASP8
18 chlamydia 9.9 CASP1 MCL1
19 lymphoma, non-hodgkin, familial 9.7 CASP10 CASP8 MCL1
20 myeloma, multiple 9.7 CASP8 CASP9 MCL1
21 cervical cancer 9.4 CASP8 CASP9 MCL1

Graphical network of the top 20 diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2:



Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 2

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
cholelithiasis
jaundice, episodic
progression to end-stage liver disease does not occur
intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life
more
Skin Nails Hair Skin:
jaundice, episodic
pruritus, episodic

Laboratory Abnormalities:
conjugated hyperbilirubinemia
increased alkaline phosphatase
normal or mildly increased serum gamma-ggt
increased serum bile acids


Clinical features from OMIM:

605479

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 pruritus 32 HP:0000989
3 cholelithiasis 32 HP:0001081
4 jaundice 32 HP:0000952
5 intrahepatic cholestasis 32 occasional (7.5%) HP:0001406
6 conjugated hyperbilirubinemia 32 HP:0002908
7 elevated alkaline phosphatase 32 HP:0003155

GenomeRNAi Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 ATP8B1 CASP1 CASP8 CASP9 MCL1 TRADD
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 ATP8B1 CASP1 CASP8 CASP9 MCL1 TRADD

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 2

Search Clinical Trials , NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic, 2:

# Genetic test Affiliating Genes
1 Benign Recurrent Intrahepatic Cholestasis 2 29 ABCB11

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards organs/tissues related to Cholestasis, Benign Recurrent Intrahepatic, 2:

41
Liver, Testes

Publications for Cholestasis, Benign Recurrent Intrahepatic, 2

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 2:

# Title Authors Year
1
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. ( 29404523 )
2018
2
Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. ( 26223708 )
2016
3
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ( 15300568 )
2004

Variations for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

75
# Symbol AA change Variation ID SNP ID
1 ABCB11 p.Glu297Gly VAR_010271 rs11568372
2 ABCB11 p.Glu186Gly VAR_030386 rs72551307
3 ABCB11 p.Arg432Thr VAR_030391 rs121908935
4 ABCB11 p.Ala570Thr VAR_030392 rs886043807
5 ABCB11 p.Thr923Pro VAR_030394 rs777469571
6 ABCB11 p.Ala926Pro VAR_030395 rs72549400
7 ABCB11 p.Arg1050Cys VAR_030396 rs72549398
8 ABCB11 p.Arg1128His VAR_030397 rs756220860

ClinVar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB11 NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh37 Chromosome 2, 169847329: 169847329
2 ABCB11 NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh38 Chromosome 2, 168990819: 168990819
3 ABCB11 NM_003742.2(ABCB11): c.1295G> C (p.Arg432Thr) single nucleotide variant Pathogenic rs121908935 GRCh37 Chromosome 2, 169833100: 169833100
4 ABCB11 NM_003742.2(ABCB11): c.1295G> C (p.Arg432Thr) single nucleotide variant Pathogenic rs121908935 GRCh38 Chromosome 2, 168976590: 168976590
5 ABCB11 NM_003742.2(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh37 Chromosome 2, 169825008: 169825008
6 ABCB11 NM_003742.2(ABCB11): c.2012-8T> G single nucleotide variant Pathogenic rs769910565 GRCh38 Chromosome 2, 168968498: 168968498
7 ABCB11 NM_003742.2(ABCB11): c.908+1G> A single nucleotide variant Pathogenic rs147649016 GRCh37 Chromosome 2, 169847310: 169847310
8 ABCB11 NM_003742.2(ABCB11): c.908+1G> A single nucleotide variant Pathogenic rs147649016 GRCh38 Chromosome 2, 168990800: 168990800
9 ABCB11 NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln) single nucleotide variant Pathogenic rs758069019 GRCh37 Chromosome 2, 169781240: 169781240
10 ABCB11 NM_003742.2(ABCB11): c.3692G> A (p.Arg1231Gln) single nucleotide variant Pathogenic rs758069019 GRCh38 Chromosome 2, 168924730: 168924730
11 ABCB11 NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs) deletion Pathogenic rs886043703 GRCh37 Chromosome 2, 169833124: 169833124
12 ABCB11 NM_003742.2(ABCB11): c.1271delA (p.Asn424Metfs) deletion Pathogenic rs886043703 GRCh38 Chromosome 2, 168976614: 168976614
13 ABCB11 NM_003742.2(ABCB11): c.150+1G> A single nucleotide variant Pathogenic rs886043875 GRCh37 Chromosome 2, 169870812: 169870812
14 ABCB11 NM_003742.2(ABCB11): c.150+1G> A single nucleotide variant Pathogenic rs886043875 GRCh38 Chromosome 2, 169014302: 169014302
15 ABCB11 NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter) single nucleotide variant Pathogenic rs886043935 GRCh37 Chromosome 2, 169842634: 169842634
16 ABCB11 NM_003742.2(ABCB11): c.1069G> T (p.Gly357Ter) single nucleotide variant Pathogenic rs886043935 GRCh38 Chromosome 2, 168986124: 168986124
17 ABCB11 NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly) single nucleotide variant Pathogenic rs72549402 GRCh37 Chromosome 2, 169828550: 169828550
18 ABCB11 NM_003742.2(ABCB11): c.1445A> G (p.Asp482Gly) single nucleotide variant Pathogenic rs72549402 GRCh38 Chromosome 2, 168972040: 168972040
19 ABCB11 NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs886043986 GRCh37 Chromosome 2, 169874614: 169874614
20 ABCB11 NM_003742.2(ABCB11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs886043986 GRCh38 Chromosome 2, 169018104: 169018104
21 ABCB11 NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys) single nucleotide variant Pathogenic rs72549395 GRCh37 Chromosome 2, 169783827: 169783827
22 ABCB11 NM_003742.2(ABCB11): c.3457C> T (p.Arg1153Cys) single nucleotide variant Pathogenic rs72549395 GRCh38 Chromosome 2, 168927317: 168927317
23 ABCB11 NC_000002.11: g.169830232_169830305del56 deletion Pathogenic GRCh37 Chromosome 2, 169830232: 169830305
24 ABCB11 NM_003742.2(ABCB11): c.1460G> A (p.Arg487His) single nucleotide variant Likely pathogenic rs188824058 GRCh37 Chromosome 2, 169828535: 169828535
25 ABCB11 NM_003742.2(ABCB11): c.1460G> A (p.Arg487His) single nucleotide variant Likely pathogenic rs188824058 GRCh38 Chromosome 2, 168972025: 168972025
26 ABCB11 NM_003742.2(ABCB11): c.2296G> A (p.Gly766Arg) single nucleotide variant Pathogenic rs763782349 GRCh37 Chromosome 2, 169814521: 169814521
27 ABCB11 NM_003742.2(ABCB11): c.2296G> A (p.Gly766Arg) single nucleotide variant Pathogenic rs763782349 GRCh38 Chromosome 2, 168958011: 168958011
28 ABCB11 NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh37 Chromosome 2, 169801435: 169801435
29 ABCB11 NM_003742.2(ABCB11): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs1060499579 GRCh38 Chromosome 2, 168944925: 168944925
30 ABCB11 NM_003742.3(ABCB11): c.409G> A (p.Glu137Lys) single nucleotide variant Likely pathogenic rs1026511416 GRCh38 Chromosome 2, 168996703: 168996703
31 ABCB11 NM_003742.3(ABCB11): c.409G> A (p.Glu137Lys) single nucleotide variant Likely pathogenic rs1026511416 GRCh37 Chromosome 2, 169853213: 169853213
32 ABCB11 NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs774824767 GRCh38 Chromosome 2, 168973741: 168973741
33 ABCB11 NM_003742.3(ABCB11): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs774824767 GRCh37 Chromosome 2, 169830251: 169830251
34 ABCB11 NM_003742.3(ABCB11): c.403G> A (p.Glu135Lys) single nucleotide variant Likely pathogenic rs752992432 GRCh38 Chromosome 2, 168996709: 168996709
35 ABCB11 NM_003742.3(ABCB11): c.403G> A (p.Glu135Lys) single nucleotide variant Likely pathogenic rs752992432 GRCh37 Chromosome 2, 169853219: 169853219
36 ABCB11 NM_003742.3(ABCB11): c.3326T> C (p.Leu1109Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 168930750: 168930750
37 ABCB11 NM_003742.3(ABCB11): c.3326T> C (p.Leu1109Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 169787260: 169787260

Expression for Cholestasis, Benign Recurrent Intrahepatic, 2

Search GEO for disease gene expression data for Cholestasis, Benign Recurrent Intrahepatic, 2.

Pathways for Cholestasis, Benign Recurrent Intrahepatic, 2

Pathways related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 CASP10 CASP8 CASP9 TRADD
2
Show member pathways
12.81 CASP8 CASP9 MCL1 TRADD
3
Show member pathways
12.76 CASP1 CASP10 CASP8 CASP9 TRADD
4
Show member pathways
12.73 CASP1 CASP10 CASP8 CASP9 TRADD
5 12.61 CASP1 CASP8 CASP9 TRADD
6
Show member pathways
12.6 CASP1 CASP10 CASP8 TRADD
7
Show member pathways
12.54 CASP1 CASP10 CASP8 CASP9
8
Show member pathways
12.52 CASP8 CASP9 MCL1 TRADD
9
Show member pathways
12.39 CASP1 CASP10 CASP8 CASP9
10
Show member pathways
12.33 CASP1 CASP10 CASP8 CASP9 TRADD
11
Show member pathways
12.33 CASP1 CASP10 CASP8 CASP9 MCL1 TRADD
12
Show member pathways
12.27 CASP10 CASP8 CASP9
13
Show member pathways
12.18 CASP1 CASP10 CASP8 CASP9 TRADD
14
Show member pathways
12.17 CASP10 CASP8 TRADD
15 12.14 CASP8 CASP9 TRADD
16
Show member pathways
12.14 CASP10 CASP8 CASP9 TRADD
17
Show member pathways
12.06 CASP1 CASP8 TRADD
18 12.03 CASP10 CASP8 CASP9 TRADD
19
Show member pathways
12.03 CASP1 CASP10 CASP8 CASP9
20 12.01 CASP8 CASP9 TRADD
21
Show member pathways
11.98 CASP8 CASP9 TRADD
22 11.94 CASP1 CASP10 MCL1
23
Show member pathways
11.91 CASP1 CASP10 CASP8 CASP9 TRADD
24
Show member pathways
11.85 CASP1 CASP8 CASP9
25 11.83 CASP10 CASP8 TRADD
26 11.82 CASP1 CASP10 CASP8 CASP9
27
Show member pathways
11.77 CASP1 CASP10 CASP8 CASP9
28 11.72 CASP1 CASP10 CASP8 CASP9
29
Show member pathways
11.71 CASP8 CASP9 MCL1
30
Show member pathways
11.69 CASP10 CASP8 CASP9
31 11.62 CASP1 CASP8 CASP9 MCL1 TRADD
32 11.55 CASP8 CASP9
33 11.51 CASP8 CASP9
34 11.47 CASP10 CASP8 TRADD
35 11.46 CASP1 CASP8 CASP9
36
Show member pathways
11.37 CASP8 CASP9
37 11.34 CASP8 CASP9
38 11.32 CASP8 TRADD
39 11.31 CASP8 CASP9
40
Show member pathways
11.31 CASP8 CASP9 MCL1
41 11.31 CASP1 CASP8 CASP9
42 11.27 CASP10 CASP8 CASP9
43
Show member pathways
11.11 CASP1 CASP10 CASP8 CASP9 TRADD

GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 2

Cellular components related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.56 CASP1 CASP8 CASP9 TRADD
2 death-inducing signaling complex GO:0031264 9.16 CASP8 TRADD
3 CD95 death-inducing signaling complex GO:0031265 8.96 CASP10 CASP8
4 ripoptosome GO:0097342 8.62 CASP10 CASP8

Biological processes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.84 CASP1 CASP10 CASP8 CASP9
2 apoptotic process GO:0006915 9.63 CASP1 CASP10 CASP8 CASP9 MCL1 TRADD
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.62 CASP1 CASP10 CASP8 TRADD
4 cellular response to organic cyclic compound GO:0071407 9.59 CASP8 CASP9
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.58 CASP9 MCL1
6 extrinsic apoptotic signaling pathway GO:0097191 9.58 CASP8 TRADD
7 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.57 CASP8 TRADD
8 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.56 CASP9 MCL1
9 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.55 CASP8 TRADD
10 apoptotic signaling pathway GO:0097190 9.54 CASP1 CASP10 CASP8
11 response to antibiotic GO:0046677 9.52 CASP8 CASP9
12 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.51 CASP8 TRADD
13 bile acid and bile salt transport GO:0015721 9.49 ABCB11 ATP8B1
14 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.48 CASP8 TRADD
15 regulation of response to DNA damage stimulus GO:2001020 9.46 CASP9 MCL1
16 death-inducing signaling complex assembly GO:0071550 9.43 CASP8 TRADD
17 execution phase of apoptosis GO:0097194 9.43 CASP1 CASP10 CASP8
18 response to cobalt ion GO:0032025 9.4 CASP8 CASP9
19 regulation of apoptotic process GO:0042981 9.35 CASP1 CASP10 CASP8 CASP9 MCL1
20 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.02 CASP1 CASP10 CASP8 CASP9 TRADD

Molecular functions related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.83 ATP8B1 CASP1 CASP10 CASP8 CASP9
2 peptidase activity GO:0008233 9.67 CASP1 CASP10 CASP8 CASP9
3 cysteine-type peptidase activity GO:0008234 9.56 CASP1 CASP10 CASP8 CASP9
4 cysteine-type endopeptidase activity GO:0004197 9.46 CASP1 CASP10 CASP8 CASP9
5 tumor necrosis factor receptor binding GO:0005164 9.4 CASP8 TRADD
6 death effector domain binding GO:0035877 9.32 CASP10 CASP8
7 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.26 CASP1 CASP10 CASP8 CASP9
8 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 8.92 CASP1 CASP10 CASP8 CASP9

Sources for Cholestasis, Benign Recurrent Intrahepatic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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