PAPAS
MCID: PYG003
MIFTS: 36

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPAS)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

MalaCards integrated aliases for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

Name: Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 58 13
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 12 54 30 6 41 74
Papa Syndrome 58 12 54 60 76
Fra 58 77 54 60 76
Familial Recurrent Arthritis 58 54 60 76
Papas 58 54 76
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome 38
Pyogenic Arthritis, Pyoderma Gangrenosum, and Severe Cystic Acne 54
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne 76
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome 60
Familial Recurrent Arthritis; Fra 58
Papa Syndrome; Papas 58

Characteristics:

Orphanet epidemiological data:

60
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
papa syndrome is an acronym for pyogenic sterile arthritis, pyoderma gangrenosum, acne
onset of arthritis in early childhood
onset of acne in adolescence, persists into adulthood


HPO:

33
pyogenic sterile arthritis, pyoderma gangrenosum, and acne:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080519
OMIM 58 604416
KEGG 38 H00287
MESH via Orphanet 46 C536253
UMLS via Orphanet 75 C1858361
Orphanet 60 ORPHA69126
MedGen 43 C1858361
UMLS 74 C1858361

Summaries for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 69126Disease definitionPyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.EpidemiologyTo date, only 34 patients with PAPA syndrome have been reported worldwide, from five families (two in the USA, one in Italy, one in the Netherlands, and one in New Zealand).Clinical descriptionThe first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction. Synovial fluid is purulent with neutrophil accumulation, but cultures are invariably negative. Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously. Other less commonly associated features include adult-onset insulin-dependent diabetes mellitus, proteinuria, and abscess formation at the site of parenteral injections (pathergy).EtiologyThe gene responsible for the syndrome, the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene (previously known as the CD2 binding protein 1 (CD2BP1) gene), was cloned in 2002. Only two mutations account for the known cases. Recently, the PSTPIP1 protein has been demonstrated to bind pyrin/marenostrin (P/M), the protein encoded by the MEFV gene, mutations in which cause Familial Mediterranean Fever. PAPA-associated PSTPIP1 mutants exhibit increased binding to P/M.Differential diagnosisDifferential diagnosis for PAPA syndrome should include juvenile idiopathic arthritis and periodic fever.Genetic counselingPAPA syndrome is inherited in an autosomal dominant manner.Management and treatmentArthritis and skin lesions have sometimes been reported to be responsive to glucocorticoids. However, two alternative therapeutics have been suggested so far. In one report, the disease underwent rapid and sustained clinical remission after treatment withthe tumor necrosis factor inhibitor, etanercept. Another recent paper described the effect of recombinant human interleukin (IL)-1 receptor antagonist (anakinra), which appeared to be an effective therapy to treat disease flares in PAPA syndrome.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne, also known as pyogenic arthritis, pyoderma gangrenosum and acne, is related to bartsocas-papas syndrome and fragile site, distamycin a type, rare, fra(16)(q22.1). An important gene associated with Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne is PSTPIP1 (Proline-Serine-Threonine Phosphatase Interacting Protein 1), and among its related pathways/superpathways is NOD-like receptor signaling pathway. Affiliated tissues include skin, neutrophil and brain, and related phenotypes are arthritis and fever

Disease Ontology : 12 A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.

UniProtKB/Swiss-Prot : 76 PAPA syndrome: Characterized by autosomal dominant inheritance of early-onset, primarily affecting skin and joint tissues. Recurring inflammatory episodes lead to accumulation of sterile, pyogenic, neutrophil-rich material within the affected joints, ultimately resulting in significant destruction.

Wikipedia : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... more...

Description from OMIM: 604416

Related Diseases for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Diseases related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 62, show less)
# Related Disease Score Top Affiliating Genes
1 bartsocas-papas syndrome 12.6
2 fragile site, distamycin a type, rare, fra(16)(q22.1) 12.1
3 fragile x syndrome 11.6
4 fraxd 11.2
5 arthritis 10.5
6 pyoderma 10.5
7 pyoderma gangrenosum 10.5
8 neurofibromatosis, type ii 10.3
9 autosomal dominant disease 10.3
10 osteonecrosis 10.3
11 erysipelas 10.3
12 autism 10.2
13 chagas disease 10.2
14 chand syndrome 10.1
15 multiple pterygium syndrome, escobar variant 10.1
16 vasculitis 10.1
17 leukemia 10.1
18 sarcoma 10.1
19 plague 10.1
20 osteoporotic fracture 10.1
21 arteries, anomalies of 9.9
22 hepatocellular carcinoma 9.9
23 brain injury 9.9
24 coronary artery anomaly 9.9
25 ischemic heart disease 9.9
26 traumatic brain injury 9.9
27 oral squamous cell carcinoma 9.9
28 heart disease 9.9
29 squamous cell carcinoma 9.9
30 headache 9.9
31 popliteal pterygium syndrome 9.9
32 polydactyly, postaxial, type a1 9.9
33 triiodothyronine receptor auxiliary protein 9.9
34 familial mediterranean fever 9.9
35 multiple pterygium syndrome, lethal type 9.9
36 synpolydactyly 9.9
37 hidradenitis 9.9
38 agammaglobulinemia 9.9
39 septic arthritis 9.9
40 blood group, colton system 9.9
41 breast cancer 9.9
42 colorectal cancer 9.9
43 sotos syndrome 1 9.9
44 nondisjunction 9.9
45 down syndrome 9.9
46 ablepharon-macrostomia syndrome 9.9
47 lung cancer 9.9
48 endometrial cancer 9.9
49 spondylocostal dysostosis 3, autosomal recessive 9.9
50 ewing sarcoma 9.9
51 macrostomia, isolated 9.9
52 membranous nephropathy 9.9
53 neutropenia 9.9
54 autism spectrum disorder 9.9
55 pollen allergy 9.9
56 rabies 9.9
57 dysostosis 9.9
58 turner syndrome 9.9
59 kidney disease 9.9
60 hydrocele 9.9
61 gigantism 9.9
62 granulocytopenia 9.9

Graphical network of the top 20 diseases related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:



Diseases related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Symptoms & Phenotypes for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Human phenotypes related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

60 33 (showing 17, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001369
2 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
3 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
4 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
5 acne 60 33 hallmark (90%) Very frequent (99-80%) HP:0001061
6 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
7 pustule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200039
8 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
9 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
10 increased antibody level in blood 60 33 frequent (33%) Frequent (79-30%) HP:0010702
11 proteinuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000093
12 type i diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0100651
13 myositis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100614
14 crohn's disease 60 33 occasional (7.5%) Occasional (29-5%) HP:0100280
15 increased inflammatory response 60 Occasional (29-5%)
16 pyoderma gangrenosum 33 HP:0025452
17 pyoderma 33 HP:0000999

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
pyoderma gangrenosum
severe cystic acne
sterile abscesses at site of parenteral injection

Skeletal:
intermittent sterile, pauciarticular, peripheral erosive arthritis (elbow, knee, ankle)
synovial tissue biopsy shows polymorphonuclear infiltrate without presence of immunoglobulin or complement deposits

Abdomen Gastrointestinal:
irritable bowel syndrome

Hematology:
normocytic pancytopenia following sulfa use

Clinical features from OMIM:

604416

Drugs & Therapeutics for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296

Search NIH Clinical Center for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Genetic Tests for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Genetic tests related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

# Genetic test Affiliating Genes
1 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 30 PSTPIP1

Anatomical Context for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

MalaCards organs/tissues related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

42
Skin, Neutrophil, Brain, Bone, Heart, Kidney

Publications for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Articles related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

(showing 15, show less)
# Title Authors Year
1
Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature. ( 30225645 )
2019
2
Pyogenic arthritis pyoderma gangrenosum and acne syndrome: A rare but important diagnosis for antibiotic-resistant erysipelas-like erythema and osteonecrosis. ( 29943877 )
2018
3
High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome. ( 27505688 )
2017
4
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts. ( 28251506 )
2017
5
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. ( 25845478 )
2015
6
A sporadic case of pyogenic arthritis, pyoderma gangrenosum and acne syndrome without an identifiable mutation. ( 23692517 )
2014
7
Fever of undetermined origin in a patient with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome). ( 24603749 )
2014
8
Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins. ( 23293022 )
2013
9
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). ( 22161697 )
2012
10
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab. ( 22513199 )
2012
11
Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra. ( 19673875 )
2009
12
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene. ( 19700023 )
2009
13
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) associated with hypogammaglobulinemia and elevated serum tumor necrosis factor-alpha levels. ( 17041385 )
2002
14
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. ( 10729114 )
2000
15
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. ( 9212761 )
1997

Variations for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

UniProtKB/Swiss-Prot genetic disease variations for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

76 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 PSTPIP1 p.Ala230Thr VAR_023522 rs121908130
2 PSTPIP1 p.Glu250Gln VAR_023523 rs28939089
3 PSTPIP1 p.Glu250Lys VAR_070635 rs28939089

ClinVar genetic disease variations for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

6 (showing 162, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> C (p.Glu250Gln) single nucleotide variant Pathogenic rs28939089 GRCh37 Chromosome 15, 77324645: 77324645
2 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> C (p.Glu250Gln) single nucleotide variant Pathogenic rs28939089 GRCh38 Chromosome 15, 77032304: 77032304
3 PSTPIP1 NM_003978.4(PSTPIP1): c.688G> A (p.Ala230Thr) single nucleotide variant Pathogenic rs121908130 GRCh37 Chromosome 15, 77323566: 77323566
4 PSTPIP1 NM_003978.4(PSTPIP1): c.688G> A (p.Ala230Thr) single nucleotide variant Pathogenic rs121908130 GRCh38 Chromosome 15, 77031225: 77031225
5 PSTPIP1 NM_003978.4(PSTPIP1): c.741+32_741+33dupGT insertion not provided rs104895417 GRCh37 Chromosome 15, 77323651: 77323652
6 PSTPIP1 NM_003978.4(PSTPIP1): c.741+32_741+33dupGT insertion not provided rs104895417 GRCh38 Chromosome 15, 77031310: 77031311
7 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 GRCh37 Chromosome 15, 77324645: 77324645
8 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 GRCh38 Chromosome 15, 77032304: 77032304
9 PSTPIP1 NM_003978.4(PSTPIP1): c.796G> A (p.Asp266Asn) single nucleotide variant not provided rs104895418 GRCh37 Chromosome 15, 77324693: 77324693
10 PSTPIP1 NM_003978.4(PSTPIP1): c.796G> A (p.Asp266Asn) single nucleotide variant not provided rs104895418 GRCh38 Chromosome 15, 77032352: 77032352
11 PSTPIP1 NM_003978.4(PSTPIP1): c.204G> A (p.Thr68=) single nucleotide variant Benign rs113386299 GRCh38 Chromosome 15, 77018523: 77018523
12 PSTPIP1 NM_003978.4(PSTPIP1): c.204G> A (p.Thr68=) single nucleotide variant Benign rs113386299 GRCh37 Chromosome 15, 77310864: 77310864
13 PSTPIP1 NM_003978.4(PSTPIP1): c.212+12C> T single nucleotide variant Benign rs3812914 GRCh38 Chromosome 15, 77018543: 77018543
14 PSTPIP1 NM_003978.4(PSTPIP1): c.212+12C> T single nucleotide variant Benign rs3812914 GRCh37 Chromosome 15, 77310884: 77310884
15 PSTPIP1 NM_003978.4(PSTPIP1): c.354+10G> A single nucleotide variant Benign/Likely benign rs370745407 GRCh38 Chromosome 15, 77025614: 77025614
16 PSTPIP1 NM_003978.4(PSTPIP1): c.354+10G> A single nucleotide variant Benign/Likely benign rs370745407 GRCh37 Chromosome 15, 77317955: 77317955
17 PSTPIP1 NM_003978.4(PSTPIP1): c.786C> T (p.Asp262=) single nucleotide variant Benign/Likely benign rs35860563 GRCh38 Chromosome 15, 77032342: 77032342
18 PSTPIP1 NM_003978.4(PSTPIP1): c.786C> T (p.Asp262=) single nucleotide variant Benign/Likely benign rs35860563 GRCh37 Chromosome 15, 77324683: 77324683
19 PSTPIP1 NM_003978.4(PSTPIP1): c.837C> T (p.Pro279=) single nucleotide variant Benign/Likely benign rs149195362 GRCh38 Chromosome 15, 77032393: 77032393
20 PSTPIP1 NM_003978.4(PSTPIP1): c.837C> T (p.Pro279=) single nucleotide variant Benign/Likely benign rs149195362 GRCh37 Chromosome 15, 77324734: 77324734
21 PSTPIP1 NM_003978.4(PSTPIP1): c.908C> T (p.Pro303Leu) single nucleotide variant Benign/Likely benign rs189773500 GRCh38 Chromosome 15, 77032931: 77032931
22 PSTPIP1 NM_003978.4(PSTPIP1): c.908C> T (p.Pro303Leu) single nucleotide variant Benign/Likely benign rs189773500 GRCh37 Chromosome 15, 77325272: 77325272
23 PSTPIP1 NM_003978.4(PSTPIP1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs146035424 GRCh38 Chromosome 15, 77037131: 77037131
24 PSTPIP1 NM_003978.4(PSTPIP1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs146035424 GRCh37 Chromosome 15, 77329472: 77329472
25 PSTPIP1 NM_003978.4(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 GRCh38 Chromosome 15, 77025307: 77025307
26 PSTPIP1 NM_003978.4(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 GRCh37 Chromosome 15, 77317648: 77317648
27 PSTPIP1 NM_003978.4(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 GRCh38 Chromosome 15, 77037133: 77037133
28 PSTPIP1 NM_003978.4(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 GRCh37 Chromosome 15, 77329474: 77329474
29 PSTPIP1 NM_003978.4(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 GRCh38 Chromosome 15, 77037138: 77037138
30 PSTPIP1 NM_003978.4(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 GRCh37 Chromosome 15, 77329479: 77329479
31 PSTPIP1 NM_003978.4(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 GRCh37 Chromosome 15, 77329417: 77329417
32 PSTPIP1 NM_003978.4(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 GRCh38 Chromosome 15, 77037076: 77037076
33 PSTPIP1 NM_003978.4(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 GRCh37 Chromosome 15, 77323535: 77323535
34 PSTPIP1 NM_003978.4(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 GRCh38 Chromosome 15, 77031194: 77031194
35 PSTPIP1 NM_003978.4(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 GRCh38 Chromosome 15, 77032905: 77032905
36 PSTPIP1 NM_003978.4(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 GRCh37 Chromosome 15, 77325246: 77325246
37 PSTPIP1 NM_003978.4(PSTPIP1): c.1221C> A (p.Phe407Leu) single nucleotide variant Likely benign rs200363654 GRCh37 Chromosome 15, 77329487: 77329487
38 PSTPIP1 NM_003978.4(PSTPIP1): c.1221C> A (p.Phe407Leu) single nucleotide variant Likely benign rs200363654 GRCh38 Chromosome 15, 77037146: 77037146
39 PSTPIP1 NM_003978.4(PSTPIP1): c.147G> A (p.Ala49=) single nucleotide variant Benign/Likely benign rs34618738 GRCh37 Chromosome 15, 77310807: 77310807
40 PSTPIP1 NM_003978.4(PSTPIP1): c.147G> A (p.Ala49=) single nucleotide variant Benign/Likely benign rs34618738 GRCh38 Chromosome 15, 77018466: 77018466
41 PSTPIP1 NM_003978.4(PSTPIP1): c.773G> C (p.Gly258Ala) single nucleotide variant Benign/Likely benign rs34240327 GRCh37 Chromosome 15, 77324670: 77324670
42 PSTPIP1 NM_003978.4(PSTPIP1): c.773G> C (p.Gly258Ala) single nucleotide variant Benign/Likely benign rs34240327 GRCh38 Chromosome 15, 77032329: 77032329
43 PSTPIP1 NM_003978.4(PSTPIP1): c.915C> T (p.Cys305=) single nucleotide variant Benign rs11858480 GRCh38 Chromosome 15, 77032938: 77032938
44 PSTPIP1 NM_003978.4(PSTPIP1): c.915C> T (p.Cys305=) single nucleotide variant Benign rs11858480 GRCh37 Chromosome 15, 77325279: 77325279
45 PSTPIP1 NM_003978.4(PSTPIP1): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs35538044 GRCh38 Chromosome 15, 77035914: 77035914
46 PSTPIP1 NM_003978.4(PSTPIP1): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs35538044 GRCh37 Chromosome 15, 77328255: 77328255
47 PSTPIP1 NM_003978.4(PSTPIP1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs886041107 GRCh37 Chromosome 15, 77320202: 77320202
48 PSTPIP1 NM_003978.4(PSTPIP1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs886041107 GRCh38 Chromosome 15, 77027861: 77027861
49 PSTPIP1 NM_003978.4(PSTPIP1): c.-405_-402dup duplication Benign rs55909412 GRCh38 Chromosome 15, 76995169: 76995172
50 PSTPIP1 NM_003978.4(PSTPIP1): c.-405_-402dup duplication Benign rs55909412 GRCh37 Chromosome 15, 77287510: 77287513
51 PSTPIP1 NM_003978.4(PSTPIP1): c.-275_-271dup duplication Uncertain significance rs886051491 GRCh38 Chromosome 15, 76995299: 76995303
52 PSTPIP1 NM_003978.4(PSTPIP1): c.-275_-271dup duplication Uncertain significance rs886051491 GRCh37 Chromosome 15, 77287640: 77287644
53 PSTPIP1 NM_003978.4(PSTPIP1): c.59C> T (p.Thr20Met) single nucleotide variant Likely benign rs553718554 GRCh38 Chromosome 15, 77018170: 77018170
54 PSTPIP1 NM_003978.4(PSTPIP1): c.59C> T (p.Thr20Met) single nucleotide variant Likely benign rs553718554 GRCh37 Chromosome 15, 77310511: 77310511
55 PSTPIP1 NM_003978.4(PSTPIP1): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign rs35677716 GRCh37 Chromosome 15, 77323530: 77323530
56 PSTPIP1 NM_003978.4(PSTPIP1): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign rs35677716 GRCh38 Chromosome 15, 77031189: 77031189
57 PSTPIP1 NM_003978.4(PSTPIP1): c.856A> G (p.Asn286Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs377437961 GRCh38 Chromosome 15, 77032879: 77032879
58 PSTPIP1 NM_003978.4(PSTPIP1): c.856A> G (p.Asn286Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs377437961 GRCh37 Chromosome 15, 77325220: 77325220
59 PSTPIP1 NM_003978.4(PSTPIP1): c.-413_-402dup duplication Benign rs55909412 GRCh38 Chromosome 15, 76995161: 76995172
60 PSTPIP1 NM_003978.4(PSTPIP1): c.-413_-402dup duplication Benign rs55909412 GRCh37 Chromosome 15, 77287502: 77287513
61 PSTPIP1 NM_003978.4(PSTPIP1): c.-171A> T single nucleotide variant Likely benign rs546291000 GRCh38 Chromosome 15, 76995403: 76995403
62 PSTPIP1 NM_003978.4(PSTPIP1): c.-171A> T single nucleotide variant Likely benign rs546291000 GRCh37 Chromosome 15, 77287744: 77287744
63 PSTPIP1 NM_003978.4(PSTPIP1): c.203C> T (p.Thr68Met) single nucleotide variant Likely benign rs201872851 GRCh38 Chromosome 15, 77018522: 77018522
64 PSTPIP1 NM_003978.4(PSTPIP1): c.203C> T (p.Thr68Met) single nucleotide variant Likely benign rs201872851 GRCh37 Chromosome 15, 77310863: 77310863
65 PSTPIP1 NM_003978.4(PSTPIP1): c.543G> A (p.Lys181=) single nucleotide variant Benign/Likely benign rs375950478 GRCh37 Chromosome 15, 77321896: 77321896
66 PSTPIP1 NM_003978.4(PSTPIP1): c.543G> A (p.Lys181=) single nucleotide variant Benign/Likely benign rs375950478 GRCh38 Chromosome 15, 77029555: 77029555
67 PSTPIP1 NM_003978.4(PSTPIP1): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs758911910 GRCh37 Chromosome 15, 77322866: 77322866
68 PSTPIP1 NM_003978.4(PSTPIP1): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs758911910 GRCh38 Chromosome 15, 77030525: 77030525
69 PSTPIP1 NM_003978.4(PSTPIP1): c.940C> T (p.Leu314=) single nucleotide variant Benign/Likely benign rs201582038 GRCh38 Chromosome 15, 77035518: 77035518
70 PSTPIP1 NM_003978.4(PSTPIP1): c.940C> T (p.Leu314=) single nucleotide variant Benign/Likely benign rs201582038 GRCh37 Chromosome 15, 77327859: 77327859
71 PSTPIP1 NM_003978.4(PSTPIP1): c.1079C> T (p.Pro360Leu) single nucleotide variant Uncertain significance rs768897476 GRCh38 Chromosome 15, 77035895: 77035895
72 PSTPIP1 NM_003978.4(PSTPIP1): c.1079C> T (p.Pro360Leu) single nucleotide variant Uncertain significance rs768897476 GRCh37 Chromosome 15, 77328236: 77328236
73 PSTPIP1 NM_003978.4(PSTPIP1): c.1112C> T (p.Thr371Ile) single nucleotide variant Benign/Likely benign rs34908107 GRCh38 Chromosome 15, 77035928: 77035928
74 PSTPIP1 NM_003978.4(PSTPIP1): c.1112C> T (p.Thr371Ile) single nucleotide variant Benign/Likely benign rs34908107 GRCh37 Chromosome 15, 77328269: 77328269
75 PSTPIP1 NM_003978.4(PSTPIP1): c.1143C> T (p.Ser381=) single nucleotide variant Benign/Likely benign rs141227274 GRCh38 Chromosome 15, 77037068: 77037068
76 PSTPIP1 NM_003978.4(PSTPIP1): c.1143C> T (p.Ser381=) single nucleotide variant Benign/Likely benign rs141227274 GRCh37 Chromosome 15, 77329409: 77329409
77 PSTPIP1 NM_003978.4(PSTPIP1): c.1144G> A (p.Ala382Thr) single nucleotide variant Benign/Likely benign rs145344175 GRCh38 Chromosome 15, 77037069: 77037069
78 PSTPIP1 NM_003978.4(PSTPIP1): c.1144G> A (p.Ala382Thr) single nucleotide variant Benign/Likely benign rs145344175 GRCh37 Chromosome 15, 77329410: 77329410
79 PSTPIP1 NM_003978.4(PSTPIP1): c.1145C> T (p.Ala382Val) single nucleotide variant Likely benign rs202205180 GRCh38 Chromosome 15, 77037070: 77037070
80 PSTPIP1 NM_003978.4(PSTPIP1): c.1145C> T (p.Ala382Val) single nucleotide variant Likely benign rs202205180 GRCh37 Chromosome 15, 77329411: 77329411
81 PSTPIP1 NM_003978.4(PSTPIP1): c.1248T> C (p.Leu416=) single nucleotide variant Likely benign rs556322755 GRCh38 Chromosome 15, 77037173: 77037173
82 PSTPIP1 NM_003978.4(PSTPIP1): c.1248T> C (p.Leu416=) single nucleotide variant Likely benign rs556322755 GRCh37 Chromosome 15, 77329514: 77329514
83 PSTPIP1 NM_003978.4(PSTPIP1): c.*123T> C single nucleotide variant Uncertain significance rs886051494 GRCh38 Chromosome 15, 77037299: 77037299
84 PSTPIP1 NM_003978.4(PSTPIP1): c.*123T> C single nucleotide variant Uncertain significance rs886051494 GRCh37 Chromosome 15, 77329640: 77329640
85 PSTPIP1 NM_003978.4(PSTPIP1): c.-436G> A single nucleotide variant Likely benign rs548828496 GRCh38 Chromosome 15, 76995138: 76995138
86 PSTPIP1 NM_003978.4(PSTPIP1): c.-436G> A single nucleotide variant Likely benign rs548828496 GRCh37 Chromosome 15, 77287479: 77287479
87 PSTPIP1 NM_003978.4(PSTPIP1): c.-367G> A single nucleotide variant Uncertain significance rs886051490 GRCh38 Chromosome 15, 76995207: 76995207
88 PSTPIP1 NM_003978.4(PSTPIP1): c.-367G> A single nucleotide variant Uncertain significance rs886051490 GRCh37 Chromosome 15, 77287548: 77287548
89 PSTPIP1 NM_003978.4(PSTPIP1): c.-124C> T single nucleotide variant Uncertain significance rs760819203 GRCh38 Chromosome 15, 76995450: 76995450
90 PSTPIP1 NM_003978.4(PSTPIP1): c.-124C> T single nucleotide variant Uncertain significance rs760819203 GRCh37 Chromosome 15, 77287791: 77287791
91 PSTPIP1 NM_003978.4(PSTPIP1): c.326G> A (p.Arg109His) single nucleotide variant Uncertain significance rs772315853 GRCh38 Chromosome 15, 77025576: 77025576
92 PSTPIP1 NM_003978.4(PSTPIP1): c.326G> A (p.Arg109His) single nucleotide variant Uncertain significance rs772315853 GRCh37 Chromosome 15, 77317917: 77317917
93 PSTPIP1 NM_003978.4(PSTPIP1): c.475G> C (p.Glu159Gln) single nucleotide variant Uncertain significance rs886051493 GRCh37 Chromosome 15, 77320952: 77320952
94 PSTPIP1 NM_003978.4(PSTPIP1): c.475G> C (p.Glu159Gln) single nucleotide variant Uncertain significance rs886051493 GRCh38 Chromosome 15, 77028611: 77028611
95 PSTPIP1 NM_003978.4(PSTPIP1): c.795C> T (p.Ile265=) single nucleotide variant Likely benign rs368528834 GRCh38 Chromosome 15, 77032351: 77032351
96 PSTPIP1 NM_003978.4(PSTPIP1): c.795C> T (p.Ile265=) single nucleotide variant Likely benign rs368528834 GRCh37 Chromosome 15, 77324692: 77324692
97 PSTPIP1 NM_003978.4(PSTPIP1): c.1054G> A (p.Glu352Lys) single nucleotide variant Likely benign rs201186216 GRCh38 Chromosome 15, 77035870: 77035870
98 PSTPIP1 NM_003978.4(PSTPIP1): c.1054G> A (p.Glu352Lys) single nucleotide variant Likely benign rs201186216 GRCh37 Chromosome 15, 77328211: 77328211
99 PSTPIP1 NM_003978.4(PSTPIP1): c.*93C> T single nucleotide variant Likely benign rs554408944 GRCh38 Chromosome 15, 77037269: 77037269
100 PSTPIP1 NM_003978.4(PSTPIP1): c.*93C> T single nucleotide variant Likely benign rs554408944 GRCh37 Chromosome 15, 77329610: 77329610
101 PSTPIP1 NM_003978.4(PSTPIP1): c.*122G> A single nucleotide variant Likely benign rs527679453 GRCh38 Chromosome 15, 77037298: 77037298
102 PSTPIP1 NM_003978.4(PSTPIP1): c.*122G> A single nucleotide variant Likely benign rs527679453 GRCh37 Chromosome 15, 77329639: 77329639
103 PSTPIP1 NM_003978.4(PSTPIP1): c.-117C> T single nucleotide variant Likely benign rs147120980 GRCh38 Chromosome 15, 76995457: 76995457
104 PSTPIP1 NM_003978.4(PSTPIP1): c.-117C> T single nucleotide variant Likely benign rs147120980 GRCh37 Chromosome 15, 77287798: 77287798
105 PSTPIP1 NM_003978.4(PSTPIP1): c.418-4_418-3del deletion Uncertain significance rs749862420 GRCh37 Chromosome 15, 77320891: 77320892
106 PSTPIP1 NM_003978.4(PSTPIP1): c.418-4_418-3del deletion Uncertain significance rs749862420 GRCh38 Chromosome 15, 77028550: 77028551
107 PSTPIP1 NM_003978.4(PSTPIP1): c.555C> T (p.Thr185=) single nucleotide variant Conflicting interpretations of pathogenicity rs370782742 GRCh37 Chromosome 15, 77321908: 77321908
108 PSTPIP1 NM_003978.4(PSTPIP1): c.555C> T (p.Thr185=) single nucleotide variant Conflicting interpretations of pathogenicity rs370782742 GRCh38 Chromosome 15, 77029567: 77029567
109 PSTPIP1 NM_003978.4(PSTPIP1): c.629G> A (p.Arg210Gln) single nucleotide variant Uncertain significance rs776576205 GRCh37 Chromosome 15, 77322909: 77322909
110 PSTPIP1 NM_003978.4(PSTPIP1): c.629G> A (p.Arg210Gln) single nucleotide variant Uncertain significance rs776576205 GRCh38 Chromosome 15, 77030568: 77030568
111 PSTPIP1 NM_003978.4(PSTPIP1): c.*38T> C single nucleotide variant Benign/Likely benign rs201535027 GRCh38 Chromosome 15, 77037214: 77037214
112 PSTPIP1 NM_003978.4(PSTPIP1): c.*38T> C single nucleotide variant Benign/Likely benign rs201535027 GRCh37 Chromosome 15, 77329555: 77329555
113 PSTPIP1 NM_003978.4(PSTPIP1): c.*51G> A single nucleotide variant Benign rs117378779 GRCh38 Chromosome 15, 77037227: 77037227
114 PSTPIP1 NM_003978.4(PSTPIP1): c.*51G> A single nucleotide variant Benign rs117378779 GRCh37 Chromosome 15, 77329568: 77329568
115 PSTPIP1 NM_003978.4(PSTPIP1): c.*121C> T single nucleotide variant Likely benign rs566906535 GRCh38 Chromosome 15, 77037297: 77037297
116 PSTPIP1 NM_003978.4(PSTPIP1): c.*121C> T single nucleotide variant Likely benign rs566906535 GRCh37 Chromosome 15, 77329638: 77329638
117 PSTPIP1 NM_003978.4(PSTPIP1): c.*154_*156delCTC deletion Benign rs147238110 GRCh37 Chromosome 15, 77329671: 77329673
118 PSTPIP1 NM_003978.4(PSTPIP1): c.*154_*156delCTC deletion Benign rs147238110 GRCh38 Chromosome 15, 77037330: 77037332
119 PSTPIP1 NM_003978.4(PSTPIP1): c.687C> T (p.Asn229=) single nucleotide variant Benign/Likely benign rs542286074 GRCh37 Chromosome 15, 77323565: 77323565
120 PSTPIP1 NM_003978.4(PSTPIP1): c.687C> T (p.Asn229=) single nucleotide variant Benign/Likely benign rs542286074 GRCh38 Chromosome 15, 77031224: 77031224
121 PSTPIP1 NM_003978.4(PSTPIP1): c.1207G> C (p.Gly403Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs369113632 GRCh37 Chromosome 15, 77329473: 77329473
122 PSTPIP1 NM_003978.4(PSTPIP1): c.1207G> C (p.Gly403Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs369113632 GRCh38 Chromosome 15, 77037132: 77037132
123 PSTPIP1 NM_003978.4(PSTPIP1): c.1120-9C> G single nucleotide variant Uncertain significance rs747139033 GRCh37 Chromosome 15, 77329377: 77329377
124 PSTPIP1 NM_003978.4(PSTPIP1): c.1120-9C> G single nucleotide variant Uncertain significance rs747139033 GRCh38 Chromosome 15, 77037036: 77037036
125 PSTPIP1 NM_003978.4(PSTPIP1): c.212+5G> A single nucleotide variant Uncertain significance rs1280331114 GRCh38 Chromosome 15, 77018536: 77018536
126 PSTPIP1 NM_003978.4(PSTPIP1): c.212+5G> A single nucleotide variant Uncertain significance rs1280331114 GRCh37 Chromosome 15, 77310877: 77310877
127 PSTPIP1 NM_003978.4(PSTPIP1): c.797A> G (p.Asp266Gly) single nucleotide variant Uncertain significance rs1333618864 GRCh38 Chromosome 15, 77032353: 77032353
128 PSTPIP1 NM_003978.4(PSTPIP1): c.797A> G (p.Asp266Gly) single nucleotide variant Uncertain significance rs1333618864 GRCh37 Chromosome 15, 77324694: 77324694
129 PSTPIP1 NM_003978.4(PSTPIP1): c.1222dup (p.Val408Glyfs) duplication Uncertain significance rs1392091785 GRCh38 Chromosome 15, 77037147: 77037147
130 PSTPIP1 NM_003978.4(PSTPIP1): c.1222dup (p.Val408Glyfs) duplication Uncertain significance rs1392091785 GRCh37 Chromosome 15, 77329488: 77329488
131 PSTPIP1 NM_003978.4(PSTPIP1): c.838+9C> T single nucleotide variant Likely benign rs778120164 GRCh38 Chromosome 15, 77032403: 77032403
132 PSTPIP1 NM_003978.4(PSTPIP1): c.838+9C> T single nucleotide variant Likely benign rs778120164 GRCh37 Chromosome 15, 77324744: 77324744
133 PSTPIP1 NM_003978.4(PSTPIP1): c.1134G> A (p.Leu378=) single nucleotide variant Benign rs529402949 GRCh38 Chromosome 15, 77037059: 77037059
134 PSTPIP1 NM_003978.4(PSTPIP1): c.1134G> A (p.Leu378=) single nucleotide variant Benign rs529402949 GRCh37 Chromosome 15, 77329400: 77329400
135 PSTPIP1 NM_003978.4(PSTPIP1): c.454G> C (p.Asp152His) single nucleotide variant Uncertain significance rs375932577 GRCh37 Chromosome 15, 77320931: 77320931
136 PSTPIP1 NM_003978.4(PSTPIP1): c.454G> C (p.Asp152His) single nucleotide variant Uncertain significance rs375932577 GRCh38 Chromosome 15, 77028590: 77028590
137 PSTPIP1 NC_000015.10: g.(?_76995554)_(77037196_?)dup duplication Uncertain significance GRCh37 Chromosome 15, 77287895: 77329537
138 PSTPIP1 NC_000015.10: g.(?_76995554)_(77037196_?)dup duplication Uncertain significance GRCh38 Chromosome 15, 76995554: 77037196
139 PSTPIP1 NM_003978.4(PSTPIP1): c.430T> G (p.Tyr144Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77320907: 77320907
140 PSTPIP1 NM_003978.4(PSTPIP1): c.430T> G (p.Tyr144Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77028566: 77028566
141 PSTPIP1 NM_003978.4(PSTPIP1): c.503A> G (p.Lys168Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77320980: 77320980
142 PSTPIP1 NM_003978.4(PSTPIP1): c.503A> G (p.Lys168Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77028639: 77028639
143 PSTPIP1 NM_003978.4(PSTPIP1): c.584T> C (p.Ile195Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77322864: 77322864
144 PSTPIP1 NM_003978.4(PSTPIP1): c.584T> C (p.Ile195Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77030523: 77030523
145 PSTPIP1 NM_003978.4(PSTPIP1): c.1144G> C (p.Ala382Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77329410: 77329410
146 PSTPIP1 NM_003978.4(PSTPIP1): c.1144G> C (p.Ala382Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77037069: 77037069
147 PSTPIP1 NM_003978.4(PSTPIP1): c.296G> T (p.Arg99Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77317887: 77317887
148 PSTPIP1 NM_003978.4(PSTPIP1): c.296G> T (p.Arg99Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77025546: 77025546
149 PSTPIP1 NM_003978.4(PSTPIP1): c.548C> T (p.Ser183Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77029560: 77029560
150 PSTPIP1 NM_003978.4(PSTPIP1): c.548C> T (p.Ser183Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77321901: 77321901
151 PSTPIP1 NM_003978.4(PSTPIP1): c.604C> T (p.Arg202Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77322884: 77322884
152 PSTPIP1 NM_003978.4(PSTPIP1): c.604C> T (p.Arg202Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77030543: 77030543
153 PSTPIP1 NM_003978.4(PSTPIP1): c.655C> T (p.Gln219Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77323533: 77323533
154 PSTPIP1 NM_003978.4(PSTPIP1): c.655C> T (p.Gln219Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77031192: 77031192
155 PSTPIP1 NM_003978.4(PSTPIP1): c.793A> G (p.Ile265Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77324690: 77324690
156 PSTPIP1 NM_003978.4(PSTPIP1): c.793A> G (p.Ile265Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77032349: 77032349
157 PSTPIP1 NM_003978.4(PSTPIP1): c.1027G> A (p.Gly343Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77328184: 77328184
158 PSTPIP1 NM_003978.4(PSTPIP1): c.1027G> A (p.Gly343Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77035843: 77035843
159 PSTPIP1 NM_003978.4(PSTPIP1): c.1068C> G (p.Asn356Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77328225: 77328225
160 PSTPIP1 NM_003978.4(PSTPIP1): c.1068C> G (p.Asn356Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77035884: 77035884
161 PSTPIP1 NM_003978.4(PSTPIP1): c.916G> A (p.Gly306Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 77325280: 77325280
162 PSTPIP1 NM_003978.4(PSTPIP1): c.916G> A (p.Gly306Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 77032939: 77032939

Expression for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Search GEO for disease gene expression data for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne.

Pathways for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Pathways related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne according to KEGG:

38 (showing 1, show less)
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

GO Terms for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Sources for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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