IMD17
MCID: IMM184
MIFTS: 48

Immunodeficiency 17 (IMD17)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 17

MalaCards integrated aliases for Immunodeficiency 17:

Name: Immunodeficiency 17 57 12 73 29 6 15 71
Scid-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, Nk Cell-Positive 57 12 73
Immunodeficiency 17, Cd3 Gamma Deficient 57 12 29
Cd3-Gamma Deficiency 57 12 73
Imd17 57 12 73
Cd3gamma Deficiency 12 15
Combined Immunodeficiency Due to Cd3gamma Deficiency 58
Immunodeficiency, Type 17 39

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to cd3gamma deficiency
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic
t-cell lymphopenia is more severe early in life


HPO:

31
immunodeficiency 17:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060018 DOID:0111973
OMIM® 57 615607
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D81.2
Orphanet 58 ORPHA169082
UMLS 71 C3810107

Summaries for Immunodeficiency 17

OMIM® : 57 Immunodeficiency-17 is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see 186910)-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by Timon et al. (1993) and Recio et al. (2007)). (615607) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 17, also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive, is related to lymphopenia and severe combined immunodeficiency. An important gene associated with Immunodeficiency 17 is CD3G (CD3g Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are failure to thrive and abnormal intestine morphology

Disease Ontology : 12 A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has material basis in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 17: An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency.

Related Diseases for Immunodeficiency 17

Diseases related to Immunodeficiency 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 lymphopenia 29.6 LCK ITK CD3G
2 severe combined immunodeficiency 29.4 ZAP70 LCK CD3G CD3D
3 common variable immunodeficiency 29.0 ZAP70 LCK CD69
4 cd45 deficiency 10.1 ZAP70 LCK
5 cd3zeta deficiency 10.1 CD3G CD3D
6 co-trimoxazole allergy 10.0 LCK CD69
7 immunodeficiency 18 10.0 CD3G CD3D
8 coronin-1a deficiency 10.0 ITK CD3D
9 granulomatous disease, chronic, autosomal recessive, 3 10.0 CD3G CD3D
10 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
11 anemia, autoimmune hemolytic 10.0
12 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.0
13 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
14 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.0
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
16 nephrotic syndrome 10.0
17 autoimmune hepatitis 10.0
18 hemolytic anemia 10.0
19 thyroiditis 10.0
20 evans' syndrome 10.0
21 autoimmune enteropathy 10.0
22 severe immune-mediated enteropathy 10.0
23 retinitis pigmentosa 10 9.9 CD69 AOC3
24 immunodeficiency 19 9.9 ZAP70 CD3G CD3D
25 agammaglobulinemia, x-linked 9.9 ZAP70 TXK ITK
26 brachydactyly, type c 9.8 CD69 AOC3
27 omenn syndrome 9.8 ZAP70 CD3G CD3D
28 t-cell lymphoblastic leukemia/lymphoma 9.8 ZAP70 LCK CD3G
29 thrombocytopenic purpura, autoimmune 9.7
30 immune deficiency disease 9.7
31 bacterial infectious disease 9.7
32 giardiasis 9.7
33 agammaglobulinemia 9.7
34 purpura 9.7
35 splenomegaly 9.7
36 combined immunodeficiency 9.7 ZAP70 LCK CD3G CD3D

Graphical network of the top 20 diseases related to Immunodeficiency 17:



Diseases related to Immunodeficiency 17

Symptoms & Phenotypes for Immunodeficiency 17

Human phenotypes related to Immunodeficiency 17:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 occasional (7.5%) HP:0001508
2 abnormal intestine morphology 31 occasional (7.5%) HP:0002242
3 autoimmune hemolytic anemia 31 occasional (7.5%) HP:0001890
4 recurrent respiratory infections 31 HP:0002205
5 immunodeficiency 31 HP:0002721
6 recurrent otitis media 31 HP:0000403
7 eczema 31 HP:0000964
8 recurrent gastroenteritis 31 HP:0031123
9 decreased proportion of cd8-positive t cells 31 HP:0005415

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin:
dermatitis

Head And Neck Ears:
otitis, recurrent

Abdomen Gastrointestinal:
enteropathy (in some patients)
gastroenteritis, recurrent

Hematology:
autoimmune hemolytic anemia (in some patients)

Respiratory:
respiratory infections, recurrent

Immunology:
primary immunodeficiency
normal b cells
normal t cells
autoimmune features (in some patients)
recurrent infections, bacterial, viral, and fungal
more
Growth Other:
failure to thrive (in some patients)

Clinical features from OMIM®:

615607 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00342-S-1 9.35 ITK ZAP70
2 Increased viability GR00342-S-2 9.35 ITK ZAP70
3 Increased viability GR00342-S-3 9.35 ITK
4 Reduced mammosphere formation GR00396-S 9.02 CD3D CD69 ITK LCK ZAP70

MGI Mouse Phenotypes related to Immunodeficiency 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 ADM2 CD3G ITK LCK TXK ZAP70
2 hematopoietic system MP:0005397 9.61 ADM2 AOC3 CD3D CD3G CD69 ITK
3 immune system MP:0005387 9.28 ADM2 AOC3 CD3D CD3G CD69 ITK

Drugs & Therapeutics for Immunodeficiency 17

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 17

Genetic Tests for Immunodeficiency 17

Genetic tests related to Immunodeficiency 17:

# Genetic test Affiliating Genes
1 Immunodeficiency 17 29 CD3G
2 Immunodeficiency 17, Cd3 Gamma Deficient 29

Anatomical Context for Immunodeficiency 17

MalaCards organs/tissues related to Immunodeficiency 17:

40
T Cells, Nk Cells, B Cells, Thymus, Pituitary

Publications for Immunodeficiency 17

Articles related to Immunodeficiency 17:

(show all 12)
# Title Authors PMID Year
1
Differential biological role of CD3 chains revealed by human immunodeficiencies. 57 6
17277165 2007
2
Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. 6 57
1635567 1992
3
Biochemical basis of a novel T lymphocyte receptor immunodeficiency by immunohistochemistry. A possible CD3 gamma abnormality. 57 6
1709425 1991
4
Selective disbalances of peripheral blood T lymphocyte subsets in human CD3 gamma deficiency. 57
8325321 1993
5
Expression and function of a variant T cell receptor complex lacking CD3-gamma. 57
1713248 1991
6
Familial defect in the surface expression of the T-cell receptor-CD3 complex. 57
3262828 1988
7
Familial defect of CD3 (T3) expression by T cells associated with rare gut epithelial cell autoantibodies. 57
2872416 1986
8
Adrenomedullin 2 attenuates LPS-induced inflammation in microglia cells by receptor-mediated cAMP-PKA pathway. 61
33253929 2021
9
Intermedin promotes hepatocellular carcinoma cell proliferation through the classical Wnt signaling pathway. 61
29563999 2018
10
Downregulation of endogenous intermedin augmented myocardial injury in rats with ischemia/reperfusion. 61
23018870 2013
11
Intermedin 17-47 does not function as a full intermedin antagonist within the central nervous system or pituitary. 61
17945397 2007
12
[Common variable immunodeficiency: 17 observations in the adult]. 61
14550517 2003

Variations for Immunodeficiency 17

ClinVar genetic disease variations for Immunodeficiency 17:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD3G NM_000073.2(CD3G):c.1A>G (p.Met1Val) SNV Pathogenic 12753 rs104894199 11:118215139-118215139 11:118344424-118344424
2 CD3G NM_000073.2(CD3G):c.80_96del Deletion Pathogenic 12754 rs483352927 11:118220456-118220472 11:118349741-118349757
3 CD3G NM_000073.2(CD3G):c.205A>T (p.Lys69Ter) SNV Pathogenic 100626 rs199676861 11:118220583-118220583 11:118349868-118349868
4 CD3G NM_000073.3(CD3G):c.13A>T (p.Lys5Ter) SNV Pathogenic 965164 11:118215151-118215151 11:118344436-118344436
5 CD3G NM_000073.2(CD3G):c.213dup (p.Trp72fs) Duplication Pathogenic 580586 rs570768621 11:118220582-118220583 11:118349867-118349868
6 CD3G NM_000073.2(CD3G):c.79+10A>G SNV Conflicting interpretations of pathogenicity 474801 rs115851096 11:118219775-118219775 11:118349060-118349060
7 CD3G NM_000073.2(CD3G):c.213del (p.Lys71fs) Deletion Conflicting interpretations of pathogenicity 541654 rs570768621 11:118220583-118220583 11:118349868-118349868
8 CD3G NM_000073.2(CD3G):c.496C>A (p.Arg166=) SNV Conflicting interpretations of pathogenicity 541655 rs201529449 11:118223131-118223131 11:118352416-118352416
9 CD3G NM_000073.2(CD3G):c.56G>A (p.Gly19Asp) SNV Conflicting interpretations of pathogenicity 541656 rs146393315 11:118219742-118219742 11:118349027-118349027
10 CD3G NM_000073.2(CD3G):c.158T>C (p.Ile53Thr) SNV Conflicting interpretations of pathogenicity 302681 rs142915569 11:118220536-118220536 11:118349821-118349821
11 CD3G NM_000073.2(CD3G):c.511T>C (p.Tyr171His) SNV Conflicting interpretations of pathogenicity 302686 rs148191859 11:118223146-118223146 11:118352431-118352431
12 CD3G NM_000073.3(CD3G):c.37G>A (p.Ala13Thr) SNV Uncertain significance 845191 11:118215175-118215175 11:118344460-118344460
13 CD3G NM_000073.3(CD3G):c.353T>C (p.Phe118Ser) SNV Uncertain significance 849416 11:118221312-118221312 11:118350597-118350597
14 CD3G NM_000073.3(CD3G):c.79+4G>A SNV Uncertain significance 863273 11:118219769-118219769 11:118349054-118349054
15 CD3G NM_000073.3(CD3G):c.*617G>T SNV Uncertain significance 877939 11:118224432-118224432 11:118353717-118353717
16 CD3G NM_000073.3(CD3G):c.*650C>T SNV Uncertain significance 877940 11:118224465-118224465 11:118353750-118353750
17 CD3G NM_000073.3(CD3G):c.243T>C (p.Pro81=) SNV Uncertain significance 878050 11:118220621-118220621 11:118349906-118349906
18 CD3G NM_000073.3(CD3G):c.467A>G (p.Asn156Ser) SNV Uncertain significance 879514 11:118222370-118222370 11:118351655-118351655
19 CD3G NM_000073.3(CD3G):c.*141G>A SNV Uncertain significance 879515 11:118223956-118223956 11:118353241-118353241
20 CD3G NM_000073.3(CD3G):c.*216C>A SNV Uncertain significance 879516 11:118224031-118224031 11:118353316-118353316
21 CD3G NM_000073.3(CD3G):c.*253G>A SNV Uncertain significance 879878 11:118224068-118224068 11:118353353-118353353
22 CD3G NM_000073.3(CD3G):c.*363C>T SNV Uncertain significance 879879 11:118224178-118224178 11:118353463-118353463
23 CD3G NM_000073.3(CD3G):c.*426T>G SNV Uncertain significance 879880 11:118224241-118224241 11:118353526-118353526
24 CD3G NM_000073.3(CD3G):c.*551C>T SNV Uncertain significance 879881 11:118224366-118224366 11:118353651-118353651
25 CD3G NM_000073.2(CD3G):c.40A>G (p.Ile14Val) SNV Uncertain significance 643291 rs377262966 11:118215178-118215178 11:118344463-118344463
26 CD3G NM_000073.2(CD3G):c.326A>G (p.Glu109Gly) SNV Uncertain significance 644192 rs747479547 11:118221285-118221285 11:118350570-118350570
27 CD3G NM_000073.2(CD3G):c.128T>C (p.Leu43Pro) SNV Uncertain significance 648713 rs1415147588 11:118220506-118220506 11:118349791-118349791
28 CD3G NM_000073.2(CD3G):c.36G>A (p.Leu12=) SNV Uncertain significance 649896 rs181713283 11:118215174-118215174 11:118344459-118344459
29 CD3G NM_000073.2(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe) Indel Uncertain significance 661539 rs1591284990 11:118221348-118221350 11:118350633-118350635
30 CD3G NM_000073.2(CD3G):c.33C>G (p.Ile11Met) SNV Uncertain significance 580921 rs143990986 11:118215171-118215171 11:118344456-118344456
31 CD3G NM_000073.2(CD3G):c.273G>C (p.Gln91His) SNV Uncertain significance 640654 rs141052321 11:118220651-118220651 11:118349936-118349936
32 CD3G NM_000073.2(CD3G):c.122C>T (p.Ser41Leu) SNV Uncertain significance 661867 rs201752677 11:118220500-118220500 11:118349785-118349785
33 CD3G NM_000073.3(CD3G):c.223G>A (p.Gly75Arg) SNV Uncertain significance 937048 11:118220601-118220601 11:118349886-118349886
34 CD3G NM_000073.3(CD3G):c.308-13_308-6del Deletion Uncertain significance 949724 11:118221253-118221260 11:118350538-118350545
35 CD3G NM_000073.3(CD3G):c.11G>T (p.Gly4Val) SNV Uncertain significance 950997 11:118215149-118215149 11:118344434-118344434
36 CD3G NM_000073.2(CD3G):c.*450T>G SNV Uncertain significance 302691 rs200498090 11:118224265-118224265 11:118353550-118353550
37 CD3G NM_000073.2(CD3G):c.*500G>A SNV Uncertain significance 302694 rs886047743 11:118224315-118224315 11:118353600-118353600
38 CD3G NM_000073.2(CD3G):c.32T>C (p.Ile11Thr) SNV Uncertain significance 302680 rs201006956 11:118215170-118215170 11:118344455-118344455
39 CD3G NM_000073.2(CD3G):c.308-4A>G SNV Uncertain significance 302683 rs201296802 11:118221263-118221263 11:118350548-118350548
40 CD3G NM_000073.2(CD3G):c.*308G>A SNV Uncertain significance 302689 rs73018291 11:118224123-118224123 11:118353408-118353408
41 CD3G NM_000073.2(CD3G):c.187G>A (p.Gly63Ser) SNV Uncertain significance 572829 rs755334490 11:118220565-118220565 11:118349850-118349850
42 CD3G NM_000073.2(CD3G):c.170A>C (p.Lys57Thr) SNV Uncertain significance 541653 rs1555121379 11:118220548-118220548 11:118349833-118349833
43 CD3G NM_000073.2(CD3G):c.*112C>T SNV Uncertain significance 302687 rs201272612 11:118223927-118223927 11:118353212-118353212
44 CD3G NM_000073.2(CD3G):c.-17G>T SNV Uncertain significance 302679 rs145293635 11:118215122-118215122 11:118344407-118344407
45 CD3G NM_000073.3(CD3G):c.56-5T>C SNV Likely benign 794659 rs1248241886 11:118219737-118219737 11:118349022-118349022
46 CD3G NM_000073.2(CD3G):c.64G>A (p.Ala22Thr) SNV Benign 474800 rs139781104 11:118219750-118219750 11:118349035-118349035
47 CD3G NM_000073.2(CD3G):c.*453G>T SNV Benign 302693 rs45477194 11:118224268-118224268 11:118353553-118353553
48 CD3G NM_000073.2(CD3G):c.*244A>G SNV Benign 302688 rs45508093 11:118224059-118224059 11:118353344-118353344
49 CD3G NM_000073.2(CD3G):c.390_391delinsCT (p.Val131Phe) Indel Benign 474799 rs71469175 11:118221349-118221350 11:118350634-118350635
50 CD3G NM_000073.3(CD3G):c.390T>C (p.Ala130=) SNV Benign 302684 rs3753059 11:118221349-118221349 11:118350634-118350634

Expression for Immunodeficiency 17

Search GEO for disease gene expression data for Immunodeficiency 17.

Pathways for Immunodeficiency 17

Pathways related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 ZAP70 LCK ITK CD3G CD3D
2
Show member pathways
13.19 ZAP70 TXK LCK ITK CD3G CD3D
3
Show member pathways
12.87 ZAP70 LCK ITK CD3G CD3D
4
Show member pathways
12.71 ZAP70 LCK ITK CD3G CD3D
5
Show member pathways
12.42 ZAP70 LCK CD3G CD3D
6
Show member pathways
12.41 ZAP70 LCK ITK CD3G CD3D
7
Show member pathways
12.37 ZAP70 LCK ITK CD3G CD3D
8 12.35 ZAP70 LCK ITK
9
Show member pathways
12.28 ZAP70 LCK CD3G CD3D
10 12.14 LCK CD3G CD3D
11
Show member pathways
12.03 LCK CD3G CD3D
12
Show member pathways
12 ZAP70 LCK ITK CD3G CD3D
13 11.94 ZAP70 LCK ITK
14
Show member pathways
11.85 ZAP70 LCK CD3G CD3D
15
Show member pathways
11.82 LCK CD3G CD3D
16 11.79 ZAP70 CD3G CD3D
17 11.78 ZAP70 LCK CD3G CD3D
18 11.61 LCK CD3G CD3D
19
Show member pathways
11.6 CD3G CD3D
20
Show member pathways
11.59 ZAP70 LCK ITK CD3G CD3D
21 11.54 ZAP70 LCK CD3G CD3D
22
Show member pathways
11.48 ZAP70 TXK LCK ITK CD3G CD3D
23 11.47 ZAP70 LCK CD3G CD3D
24
Show member pathways
11.44 CD3G CD3D
25 11.4 ZAP70 CD3G CD3D
26 11.39 ZAP70 LCK
27
Show member pathways
11.39 ZAP70 LCK ITK CD3G CD3D
28 11.27 ZAP70 LCK CD3D
29 11.25 LCK ITK
30 11.18 CD3G CD3D
31 11.15 ZAP70 LCK
32 11.14 ZAP70 LCK ITK
33 11.06 CD3G CD3D

GO Terms for Immunodeficiency 17

Cellular components related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 9.26 CD3G CD3D
2 immunological synapse GO:0001772 9.16 ZAP70 LCK
3 T cell receptor complex GO:0042101 9.13 ZAP70 CD3G CD3D
4 alpha-beta T cell receptor complex GO:0042105 8.62 CD3G CD3D

Biological processes related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.8 ZAP70 TXK LCK ITK
2 immune system process GO:0002376 9.8 ZAP70 TXK ITK CD3G CD3D
3 protein phosphorylation GO:0006468 9.77 ZAP70 TXK LCK ITK ADM2
4 adaptive immune response GO:0002250 9.65 ZAP70 TXK ITK CD3G CD3D
5 peptidyl-tyrosine phosphorylation GO:0018108 9.61 ZAP70 TXK LCK
6 T cell differentiation GO:0030217 9.51 ZAP70 LCK
7 T cell activation GO:0042110 9.5 ZAP70 ITK CD3G
8 activation of phospholipase C activity GO:0007202 9.48 TXK ITK
9 cytokine production GO:0001816 9.46 TXK ITK
10 positive thymic T cell selection GO:0045059 9.33 ZAP70 CD3G CD3D
11 peptidyl-tyrosine autophosphorylation GO:0038083 9.26 ZAP70 TXK LCK ITK
12 T cell receptor signaling pathway GO:0050852 9.1 ZAP70 TXK LCK ITK CD3G CD3D

Molecular functions related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.83 LCK CD69 CD3G CD3D AOC3
2 kinase activity GO:0016301 9.62 ZAP70 TXK LCK ITK
3 protein kinase activity GO:0004672 9.56 ZAP70 TXK LCK ITK
4 transmembrane signaling receptor activity GO:0004888 9.54 CD69 CD3G CD3D
5 phosphotyrosine residue binding GO:0001784 9.4 ZAP70 LCK
6 protein tyrosine kinase activity GO:0004713 9.26 ZAP70 TXK LCK ITK
7 T cell receptor binding GO:0042608 9.16 LCK CD3G
8 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.92 ZAP70 TXK LCK ITK

Sources for Immunodeficiency 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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