XP-G
MCID: XRD014
MIFTS: 48

Xeroderma Pigmentosum, Group G (XP-G) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group G

Aliases & Descriptions for Xeroderma Pigmentosum, Group G:

Name: Xeroderma Pigmentosum, Group G 54 13 69
Xeroderma Pigmentosum Group G 12 29 14
Xeroderma Pigmentosum Vii 12 50 66
Xp7 12 50 66
Xeroderma Pigmentosum Complementation Group G 50 66
Xp Group G 12 66
Xpg 12 50
Xeroderma Pigmentosum, Group G/cockayne Syndrome 54
Xeroderma Pigmentosum, Complementation Group G 52
Xeroderma Pigmentosum Type 7 50
Xp-G/cs 66
Xp-G 66

Characteristics:

HPO:

32
xeroderma pigmentosum, group g:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 278780
Disease Ontology 12 DOID:0110849
ICD10 33 Q82.1
MeSH 42 D014983

Summaries for Xeroderma Pigmentosum, Group G

UniProtKB/Swiss-Prot : 66 Xeroderma pigmentosum complementation group G: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary : Xeroderma Pigmentosum, Group G, also known as xeroderma pigmentosum group g, is related to cockayne syndrome, type a and xeroderma pigmentosum, group a, and has symptoms including ataxia, tremor and spasticity. An important gene associated with Xeroderma Pigmentosum, Group G is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Affiliated tissues include skin and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and cellular

Disease Ontology : 12 A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.

OMIM : 54 For a general description of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400).... (278780) more...

Related Diseases for Xeroderma Pigmentosum, Group G

Diseases in the Xeroderma Pigmentosum Group E family:

Xeroderma Pigmentosum, Group B Xeroderma Pigmentosum, Group C
Xeroderma Pigmentosum, Group a Xeroderma Pigmentosum, Group G
Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum, Group D

Diseases related to Xeroderma Pigmentosum, Group G via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
id Related Disease Score Top Affiliating Genes
1 cockayne syndrome, type a 10.8
2 xeroderma pigmentosum, group a 10.8
3 cockayne syndrome 10.3
4 melanoma 10.0
5 breast cancer 10.0
6 squamous cell carcinoma 9.9
7 lung cancer 9.9
8 specific language impairment 9.9 ERCC3 ERCC5 FEN1
9 congenital stationary night blindness 1h 9.9 DDB2 RAD23B XPA
10 qazi markouizos syndrome 9.8 ERCC1 ERCC3 XPA
11 t-cell large granular lymphocyte leukemia 9.8 ERCC1 ERCC3 ERCC5 XPA
12 trichothiodystrophy 2, photosensitive 9.8 ERCC1 ERCC3 RAD23B XPA
13 confetti-like macular atrophy 9.8 ERCC3 ERCC4 ERCC5
14 bone marrow failure syndrome 2 9.8 ERCC1 ERCC4 XPA
15 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 9.8 ERCC1 ERCC4
16 lymphedema-distichiasis syndrome 9.8 ERCC1 ERCC4 FEN1
17 mycobacterium kansasii 9.8 RAD23B XPA XRCC1 XRCC3
18 myoclonic-atonic epilepsy 9.7 DDB2 ERCC3 RAD23B XPA
19 charcot-marie-tooth disease type 2a 9.7 ERCC1 ERCC3 ERCC4 ERCC5
20 cerebrooculofacioskeletal syndrome 2 9.4 ERCC1 ERCC3 RAD23B XPA XRCC1 XRCC3
21 3-methylglutaconic aciduria, type iii 9.4 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B XPA
22 renal artery obstruction 9.3 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
23 fanconi anemia, complementation group q 9.0 DDB2 ERCC1 ERCC4 ERCC5 RAD23B XPA
24 retinitis pigmentosa 7 and digenic 8.8 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
25 bile acid malabsorption, primary 8.4 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group G:



Diseases related to Xeroderma Pigmentosum, Group G

Symptoms & Phenotypes for Xeroderma Pigmentosum, Group G

Symptoms by clinical synopsis from OMIM:

278780

Clinical features from OMIM:

278780

Human phenotypes related to Xeroderma Pigmentosum, Group G:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 tremor 32 HP:0001337
3 spasticity 32 HP:0001257
4 cataract 32 HP:0000518
5 microcephaly 32 HP:0000252
6 growth delay 32 HP:0001510
7 pes cavus 32 HP:0001761
8 microphthalmia 32 HP:0000568
9 cutaneous photosensitivity 32 HP:0000992
10 defective dna repair after ultraviolet radiation damage 32 HP:0003079

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.93 DDB2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.93 EXO1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.93 ERCC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.93 DDB2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.93 ERCC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.93 ERCC1 EXO1 DDB2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.93 ERCC1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.93 EXO1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.93 EXO1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.93 DDB2
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 ERCC1 ERCC4 EXO1 FEN1 XRCC1 XRCC3
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 ERCC4 EXO1 FEN1 XRCC1 XRCC3 DDB2
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 DDB2 ERCC1 ERCC3 ERCC4 EXO1 FEN1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group G:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 DDB2 ERCC1 ERCC3 ERCC4 EXO1 FEN1
2 growth/size/body region MP:0005378 10.02 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 FEN1
3 mortality/aging MP:0010768 9.9 RAD23B XPA XRCC1 XRCC3 DDB2 ERCC1
4 integument MP:0010771 9.8 DDB2 ERCC1 ERCC3 ERCC5 RAD23B XPA
5 liver/biliary system MP:0005370 9.65 ERCC1 ERCC4 ERCC5 FEN1 XPA
6 neoplasm MP:0002006 9.5 DDB2 ERCC1 ERCC3 EXO1 FEN1 XPA
7 reproductive system MP:0005389 9.1 ERCC1 ERCC3 EXO1 FEN1 RAD23B XPA

Drugs & Therapeutics for Xeroderma Pigmentosum, Group G

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Group G

Genetic Tests for Xeroderma Pigmentosum, Group G

Genetic tests related to Xeroderma Pigmentosum, Group G:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group G 29

Anatomical Context for Xeroderma Pigmentosum, Group G

MalaCards organs/tissues related to Xeroderma Pigmentosum, Group G:

39
Skin, Lung

Publications for Xeroderma Pigmentosum, Group G

Articles related to Xeroderma Pigmentosum, Group G:

(show all 15)
id Title Authors Year
1
Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus. ( 16094634 )
2006
2
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. ( 17179216 )
2006
3
A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene. ( 12893972 )
2003
4
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. ( 11841555 )
2002
5
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. ( 12060391 )
2002
6
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. ( 11228268 )
2001
7
Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene. ( 11340641 )
2001
8
Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. ( 10022922 )
1999
9
A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function. ( 9096355 )
1997
10
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree. ( 9447232 )
1997
11
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. ( 8823375 )
1996
12
Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. ( 7951246 )
1994
13
Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease. ( 8078765 )
1994
14
Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. ( 8483504 )
1993
15
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5. ( 8483505 )
1993

Variations for Xeroderma Pigmentosum, Group G

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group G:

66
id Symbol AA change Variation ID SNP ID
1 ERCC5 p.Ala792Val VAR_007733 rs121434571
2 ERCC5 p.Pro72His VAR_015280 rs121434574
3 ERCC5 p.Ala874Thr VAR_017096 rs28929496
4 ERCC5 p.Leu858Pro VAR_017097 rs121434575
5 ERCC5 p.Ala28Asp VAR_075773 rs267607281
6 ERCC5 p.Trp968Cys VAR_075774 rs267607280

ClinVar genetic disease variations for Xeroderma Pigmentosum, Group G:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh37 Chromosome 13, 103524747: 103524747
2 ERCC5 NM_000123.3(ERCC5): c.2375C> T (p.Ala792Val) single nucleotide variant Pathogenic rs121434571 GRCh37 Chromosome 13, 103519037: 103519037
3 ERCC5 ERCC5, 1-BP DEL, 2170A deletion Pathogenic
4 ERCC5 NM_000123.3(ERCC5): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs121434572 GRCh37 Chromosome 13, 103513971: 103513971
5 ERCC5 NM_000123.3(ERCC5): c.526C> T (p.Gln176Ter) single nucleotide variant Pathogenic rs121434573 GRCh37 Chromosome 13, 103508460: 103508460
6 ERCC5 NM_000123.3(ERCC5): c.215C> A (p.Pro72His) single nucleotide variant Pathogenic rs121434574 GRCh37 Chromosome 13, 103504594: 103504594
7 ERCC5 NM_000123.3(ERCC5): c.2573T> C (p.Leu858Pro) single nucleotide variant Pathogenic rs121434575 GRCh37 Chromosome 13, 103520502: 103520502
8 ERCC5 NM_000123.3(ERCC5): c.1115_1118delGGAA (p.Arg372Thrfs) deletion Pathogenic rs786200919 GRCh37 Chromosome 13, 103514614: 103514617
9 ERCC5 NM_000123.3(ERCC5): c.1494delA (p.Asp499Ilefs) deletion Pathogenic rs786200920 GRCh37 Chromosome 13, 103514993: 103514993
10 ERCC5 NM_000123.3(ERCC5): c.2751delA (p.Lys917Asnfs) deletion Pathogenic rs786200921 GRCh37 Chromosome 13, 103524620: 103524620
11 ERCC5 NM_000123.3(ERCC5): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434577 GRCh37 Chromosome 13, 103506663: 103506663
12 ERCC5 NM_000123.3(ERCC5): c.83C> A (p.Ala28Asp) single nucleotide variant Pathogenic rs267607281 GRCh37 Chromosome 13, 103498699: 103498699
13 ERCC5 NM_000123.3(ERCC5): c.2904G> C (p.Trp968Cys) single nucleotide variant Pathogenic rs267607280 GRCh37 Chromosome 13, 103525633: 103525633
14 ERCC5 NM_000123.3(ERCC5): c.3238C> T (p.Arg1080Ter) single nucleotide variant Likely pathogenic rs9514067 GRCh37 Chromosome 13, 103527930: 103527930
15 ERCC5 NM_000123.3(ERCC5): c.2678+1G> A single nucleotide variant Likely pathogenic rs886044319 GRCh37 Chromosome 13, 103520608: 103520608

Expression for Xeroderma Pigmentosum, Group G

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Group G.

Pathways for Xeroderma Pigmentosum, Group G

Pathways related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
2
Show member pathways
12.47 ERCC1 ERCC3 ERCC4 ERCC5 FEN1 RAD23B
3
Show member pathways
12.41 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4 12.22 DDB2 ERCC1 ERCC3 ERCC4 FEN1 RAD23B
5
Show member pathways
12.1 ERCC1 ERCC4 EXO1 GEN1 XRCC3
6
Show member pathways
11.79 EXO1 GEN1 XRCC3
7
Show member pathways
11.56 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
8 11.13 ERCC1 ERCC3 ERCC4 XPA
9
Show member pathways
10.95 ERCC1 ERCC4

GO Terms for Xeroderma Pigmentosum, Group G

Cellular components related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.65 ERCC1 ERCC4 FEN1 XRCC1 XRCC3
2 transcription factor TFIID complex GO:0005669 9.54 ERCC1 ERCC3 ERCC4
3 DNA replication factor A complex GO:0005662 9.46 ERCC5 XPA
4 holo TFIIH complex GO:0005675 9.43 ERCC3 ERCC5
5 nucleotide-excision repair complex GO:0000109 9.4 ERCC1 ERCC4
6 nucleoplasm GO:0005654 9.4 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
7 ERCC4-ERCC1 complex GO:0070522 9.33 ERCC1 ERCC4 XRCC1
8 nucleotide-excision repair factor 1 complex GO:0000110 9.13 ERCC1 ERCC4 XPA
9 nucleus GO:0005634 10.1 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

Biological processes related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 transcription-coupled nucleotide-excision repair GO:0006283 9.95 ERCC1 ERCC3 ERCC4 ERCC5 XPA XRCC1
2 nucleotide-excision repair, DNA incision GO:0033683 9.93 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
3 cellular response to DNA damage stimulus GO:0006974 9.93 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4 double-strand break repair via homologous recombination GO:0000724 9.92 ERCC4 FEN1 GEN1 XRCC1 XRCC3
5 response to UV GO:0009411 9.91 DDB2 ERCC3 ERCC4 ERCC5 XPA
6 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.91 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
7 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.89 ERCC1 EXO1 FEN1 GEN1
8 nucleotide-excision repair, preincision complex assembly GO:0006294 9.89 DDB2 ERCC3 ERCC5 RAD23B XPA
9 global genome nucleotide-excision repair GO:0070911 9.88 DDB2 ERCC1 ERCC3 ERCC4 RAD23B XPA
10 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.85 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
11 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.84 DDB2 ERCC3 RAD23B XPA
12 response to oxidative stress GO:0006979 9.83 ERCC1 ERCC3 XPA
13 DNA recombination GO:0006310 9.82 ERCC1 EXO1 XRCC3
14 double-strand break repair via nonhomologous end joining GO:0006303 9.81 ERCC1 ERCC4 XRCC1
15 interstrand cross-link repair GO:0036297 9.8 ERCC1 ERCC4 XRCC3
16 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.8 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
17 nucleotide-excision repair GO:0006289 9.8 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
18 embryonic organ development GO:0048568 9.79 ERCC1 ERCC3 RAD23B
19 base-excision repair GO:0006284 9.79 FEN1 XPA XRCC1
20 nucleotide-excision repair, DNA damage recognition GO:0000715 9.76 DDB2 RAD23B XPA
21 t-circle formation GO:0090656 9.75 ERCC1 EXO1 XRCC3
22 UV-damage excision repair GO:0070914 9.74 DDB2 ERCC1 XPA
23 telomeric DNA-containing double minutes formation GO:0061819 9.73 ERCC1 ERCC4 XRCC1
24 DNA repair GO:0006281 9.73 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
25 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.72 ERCC1 ERCC4 XRCC1
26 DNA synthesis involved in DNA repair GO:0000731 9.67 EXO1 XRCC3
27 telomere maintenance via recombination GO:0000722 9.67 FEN1 XRCC3
28 strand displacement GO:0000732 9.66 EXO1 XRCC3
29 regulation of centrosome duplication GO:0010824 9.66 GEN1 XRCC3
30 isotype switching GO:0045190 9.65 ERCC1 EXO1
31 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.64 ERCC4 XRCC3
32 positive regulation of mitotic cell cycle spindle assembly checkpoint GO:0090267 9.64 GEN1 XRCC3
33 negative regulation of telomere maintenance GO:0032205 9.62 ERCC1 ERCC4
34 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.61 ERCC4 XPA
35 resolution of mitotic recombination intermediates GO:0071140 9.6 GEN1 XRCC3
36 UV protection GO:0009650 9.1 ERCC1 ERCC3 ERCC4 ERCC5 FEN1 XPA

Molecular functions related to Xeroderma Pigmentosum, Group G according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.85 ERCC5 EXO1 FEN1 GEN1
2 protein C-terminus binding GO:0008022 9.76 ERCC1 ERCC3 ERCC4
3 double-stranded DNA binding GO:0003690 9.75 ERCC5 FEN1 XRCC3
4 protein N-terminus binding GO:0047485 9.73 ERCC3 ERCC4 ERCC5
5 single-stranded DNA binding GO:0003697 9.72 ERCC1 ERCC4 ERCC5 RAD23B XRCC3
6 hydrolase activity, acting on ester bonds GO:0016788 9.63 ERCC5 EXO1 FEN1
7 nuclease activity GO:0004518 9.63 ERCC1 ERCC4 ERCC5 EXO1 FEN1 GEN1
8 DNA-dependent ATPase activity GO:0008094 9.59 ERCC3 XRCC3
9 endodeoxyribonuclease activity GO:0004520 9.58 ERCC4 ERCC5 GEN1
10 RNA-DNA hybrid ribonuclease activity GO:0004523 9.57 EXO1 FEN1
11 5-3 exonuclease activity GO:0008409 9.54 EXO1 FEN1
12 crossover junction endodeoxyribonuclease activity GO:0008821 9.52 GEN1 XRCC3
13 TFIID-class transcription factor binding GO:0001094 9.51 ERCC1 ERCC4
14 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.49 ERCC1 ERCC4
15 flap endonuclease activity GO:0048256 9.43 EXO1 FEN1
16 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 ERCC1 ERCC4 XRCC1
17 endonuclease activity GO:0004519 9.43 ERCC1 ERCC4 ERCC5 EXO1 FEN1 GEN1
18 damaged DNA binding GO:0003684 9.23 DDB2 ERCC1 ERCC3 ERCC4 FEN1 RAD23B
19 protein binding GO:0005515 10.34 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
20 DNA binding GO:0003677 10.07 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
21 hydrolase activity GO:0016787 10.02 ERCC1 ERCC3 ERCC4 ERCC5 EXO1 FEN1

Sources for Xeroderma Pigmentosum, Group G

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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