FANCN
MCID: FNC023
MIFTS: 42

Fanconi Anemia, Complementation Group N (FANCN)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group N

MalaCards integrated aliases for Fanconi Anemia, Complementation Group N:

Name: Fanconi Anemia, Complementation Group N 58 30 13 6 41
Fanconi Anemia Complementation Group N 12 76 15
Fancn 58 12 76

Characteristics:

HPO:

33
fanconi anemia, complementation group n:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group N

OMIM : 58 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (610832)

MalaCards based summary : Fanconi Anemia, Complementation Group N, also known as fanconi anemia complementation group n, is related to pancreatic cancer 3 and tracheoesophageal fistula with or without esophageal atresia. An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). The drugs Talazoparib and Olaparib have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and breast, and related phenotypes are nephroblastoma and neuroblastoma

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.

UniProtKB/Swiss-Prot : 76 Fanconi anemia complementation group N: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Wikipedia : 77 Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by... more...

Related Diseases for Fanconi Anemia, Complementation Group N

Diseases in the Fanconi Anemia, Complementation Group a family:

Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group L
Fanconi Anemia, Complementation Group Q Fanconi Anemia, Complementation Group T
Fanconi Anemia, Complementation Group V Fanconi Anemia, Complementation Group R
Fanconi Anemia, Complementation Group U Fanconi Anemia, Complementation Group W
Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group N via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 pancreatic cancer 3 10.1 DCTN5 PALB2
2 tracheoesophageal fistula with or without esophageal atresia 10.1 BRCA2 PALB2
3 isolated tracheoesophageal fistula 10.1 BRCA2 PALB2
4 pancreatic neuroendocrine tumor 10.1 BRCA2 PALB2
5 peritoneum cancer 10.0 BRCA2 PALB2
6 tumor predisposition syndrome 10.0 BRCA2 PALB2
7 bilateral breast cancer 10.0 BRCA2 PALB2
8 fanconi anemia, complementation group o 9.9 FANCI FANCM
9 female breast cancer 9.9 BRCA2 PALB2
10 fanconi anemia, complementation group r 9.9 FANCI FANCM
11 hereditary breast ovarian cancer syndrome 9.9 BRCA2 PALB2
12 fanconi anemia, complementation group t 9.8 FANCI FANCM
13 tracheoesophageal fistula 9.8 BRCA2 DCTN5 PALB2
14 pancreas adenocarcinoma 9.7 BRCA2 PALB2
15 fanconi anemia, complementation group j 9.7 FANCI FANCM PALB2
16 fanconi anemia, complementation group q 9.7 BRCA2 FANCI FANCM
17 congenital hypoplastic anemia 9.7 BRCA2 FANCI FANCM
18 fanconi anemia, complementation group a 9.0 BRCA2 FANCB FANCI FANCM PALB2

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group N:



Diseases related to Fanconi Anemia, Complementation Group N

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group N

Human phenotypes related to Fanconi Anemia, Complementation Group N:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 33 occasional (7.5%) HP:0002667
2 neuroblastoma 33 occasional (7.5%) HP:0003006
3 hypertelorism 33 HP:0000316
4 short neck 33 HP:0000470
5 microcephaly 33 HP:0000252
6 aplastic anemia 33 HP:0001915
7 epicanthus 33 HP:0000286
8 postnatal growth retardation 33 HP:0008897
9 ventricular septal defect 33 HP:0001629
10 cafe-au-lait spot 33 HP:0000957
11 medulloblastoma 33 HP:0002885
12 short thumb 33 HP:0009778
13 chromosomal breakage induced by crosslinking agents 33 HP:0003221

Clinical features from OMIM:

610832

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group N according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.56 BRCA2 FANCI PALB2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.56 BRCA2 FANCI PALB2
3 Decreased homologous recombination repair frequency GR00236-A-3 9.56 BRCA2 PALB2
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 BRCA2 FANCI FANCM PALB2

Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

Drugs for Fanconi Anemia, Complementation Group N (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Talazoparib Approved, Investigational Phase 2 1207456-01-6
2
Olaparib Approved Phase 2,Phase 1 763113-22-0 23725625
3
Irinotecan Approved, Investigational Phase 1, Phase 2 100286-90-6, 97682-44-5 60838
4
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 143 6006
5
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
6
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
7
Levoleucovorin Approved, Investigational Phase 1, Phase 2 68538-85-2
8
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
9
Gemcitabine Approved Phase 2 95058-81-4 60750
10
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
11
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
13
Veliparib Investigational Phase 2 912444-00-9 11960529
14 Poly(ADP-ribose) Polymerase Inhibitors Phase 2,Phase 1
15 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2
16 Vitamin B Complex Phase 1, Phase 2
17 Trace Elements Phase 1, Phase 2
18 topoisomerase I inhibitors Phase 1, Phase 2
19 Immunologic Factors Phase 1, Phase 2,Phase 2
20 Vitamins Phase 1, Phase 2
21 Hematinics Phase 1, Phase 2
22 Antidotes Phase 1, Phase 2
23 Hormones Phase 1, Phase 2
24 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
25 Calcium, Dietary Phase 1, Phase 2
26 Bone Density Conservation Agents Phase 1, Phase 2
27 Folate Phase 1, Phase 2
28 Vitamin B9 Phase 1, Phase 2
29 Nutrients Phase 1, Phase 2
30 Micronutrients Phase 1, Phase 2
31 Antimetabolites Phase 1, Phase 2,Phase 2
32 Protective Agents Phase 1, Phase 2
33 pancreatin Phase 1, Phase 2,Phase 2
34 Topoisomerase Inhibitors Phase 1, Phase 2
35 Anti-Infective Agents Phase 2
36 Antiviral Agents Phase 2
37
Durvalumab Approved, Investigational Phase 1 1428935-60-7
38 Antibodies Phase 1
39 Immunoglobulins Phase 1
40 Antibodies, Monoclonal Phase 1
41 Immunoglobulin G Phase 1
42 Antineoplastic Agents, Immunological Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer Recruiting NCT03377556 Phase 2 Talazoparib
2 Olaparib Before Surgery in Treating Participants With Localized Prostate Cancer Recruiting NCT03570476 Phase 2 Olaparib
3 Olaparib in Treating Patients With Metastatic or Advanced Urothelial Cancer With DNA-Repair Defects Recruiting NCT03375307 Phase 2 Olaparib
4 Olaparib In Metastatic Breast Cancer Recruiting NCT03344965 Phase 2 Olaparib
5 Liposomal Irinotecan, Fluorouracil, Leucovorin Calcium, and Rucaparib in Treating Patients With Metastatic Pancreatic, Colorectal, Gastroesophageal, or Biliary Cancer Recruiting NCT03337087 Phase 1, Phase 2 Fluorouracil;Leucovorin Calcium;Liposomal Irinotecan;Rucaparib
6 Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations Recruiting NCT02760849 Phase 2
7 Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer Active, not recruiting NCT01585805 Phase 2 Cisplatin;Gemcitabine;Gemcitabine Hydrochloride;Veliparib
8 Copanlisib, Olaparib, and Durvalumab in Treating Patients With Metastatic or Unresectable Solid Tumors Not yet recruiting NCT03842228 Phase 1 Copanlisib;Copanlisib Hydrochloride;Olaparib
9 Prospective Multicentre Cohort Study PROREPAIR-B (mCRPC) Completed NCT03075735
10 COsegregation of VARiants in the BRCA1/2 and PALB2 Genes Recruiting NCT01689584 Not Applicable
11 Stand up to Cancer: MAGENTA (Making Genetic Testing Accessible) Recruiting NCT02993068 Early Phase 1

Search NIH Clinical Center for Fanconi Anemia, Complementation Group N

Genetic Tests for Fanconi Anemia, Complementation Group N

Genetic tests related to Fanconi Anemia, Complementation Group N:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group N 30 PALB2

Anatomical Context for Fanconi Anemia, Complementation Group N

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group N:

42
Bone, Bone Marrow, Breast, Lung, Testes, Prostate, Pancreas

Publications for Fanconi Anemia, Complementation Group N

Articles related to Fanconi Anemia, Complementation Group N:

# Title Authors Year
1
PALB2/FANCN: recombining cancer and Fanconi anemia. ( 20858716 )
2010
2
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. ( 18302019 )
2009
3
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. ( 17200671 )
2007
4
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. ( 17200672 )
2007
5
Analysis of PALB2/FANCN-associated breast cancer families. ( 17420451 )
2007
6
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. ( 17200668 )
2007

Variations for Fanconi Anemia, Complementation Group N

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group N:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 PALB2 NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter) single nucleotide variant Pathogenic rs118203997 GRCh37 Chromosome 16, 23646214: 23646214
2 PALB2 NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter) single nucleotide variant Pathogenic rs118203997 GRCh38 Chromosome 16, 23634893: 23634893
3 PALB2 PALB2: c.49-?_2586+?del deletion Pathogenic
4 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh37 Chromosome 16, 23614792: 23614792
5 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
6 PALB2 NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs118203999 GRCh37 Chromosome 16, 23634324: 23634324
7 PALB2 NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs118203999 GRCh38 Chromosome 16, 23623003: 23623003
8 PALB2 NM_024675.3(PALB2): c.-200-?_3113+?del deletion Uncertain significance
9 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh38 Chromosome 16, 23641147: 23641147
10 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh37 Chromosome 16, 23652468: 23652468
11 PALB2 NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs) indel Pathogenic rs515726073 GRCh38 Chromosome 16, 23634869: 23634870
12 PALB2 NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs) indel Pathogenic rs515726073 GRCh37 Chromosome 16, 23646190: 23646191
13 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs) insertion Pathogenic rs180177113 GRCh38 Chromosome 16, 23629760: 23629761
14 PALB2 NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs) insertion Pathogenic rs180177113 GRCh37 Chromosome 16, 23641081: 23641082
15 PALB2 NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs) deletion Pathogenic rs180177116 GRCh38 Chromosome 16, 23629269: 23629269
16 PALB2 NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs) deletion Pathogenic rs180177116 GRCh37 Chromosome 16, 23640590: 23640590
17 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177125 GRCh38 Chromosome 16, 23624070: 23624070
18 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177125 GRCh37 Chromosome 16, 23635391: 23635391
19 PALB2 NM_024675.3(PALB2): c.2869A> C (p.Lys957Gln) single nucleotide variant Uncertain significance rs515726103 GRCh38 Chromosome 16, 23623096: 23623096
20 PALB2 NM_024675.3(PALB2): c.2869A> C (p.Lys957Gln) single nucleotide variant Uncertain significance rs515726103 GRCh37 Chromosome 16, 23634417: 23634417
21 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh38 Chromosome 16, 23614089: 23614089
22 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh37 Chromosome 16, 23625410: 23625410
23 PALB2 NM_024675.3(PALB2): c.3251C> T (p.Ser1084Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62625271 GRCh38 Chromosome 16, 23607963: 23607963
24 PALB2 NM_024675.3(PALB2): c.3251C> T (p.Ser1084Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62625271 GRCh37 Chromosome 16, 23619284: 23619284
25 PALB2 NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs) deletion Pathogenic rs180177135 GRCh38 Chromosome 16, 23607891: 23607891
26 PALB2 NM_024675.3(PALB2): c.3323delA (p.Tyr1108Serfs) deletion Pathogenic rs180177135 GRCh37 Chromosome 16, 23619212: 23619212
27 PALB2 NM_024675.3(PALB2): c.3350+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs180177136 GRCh38 Chromosome 16, 23607860: 23607860
28 PALB2 NM_024675.3(PALB2): c.3350+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs180177136 GRCh37 Chromosome 16, 23619181: 23619181
29 PALB2 NM_024675.3(PALB2): c.3428T> A (p.Leu1143His) single nucleotide variant Conflicting interpretations of pathogenicity rs62625284 GRCh38 Chromosome 16, 23603592: 23603592
30 PALB2 NM_024675.3(PALB2): c.3428T> A (p.Leu1143His) single nucleotide variant Conflicting interpretations of pathogenicity rs62625284 GRCh37 Chromosome 16, 23614913: 23614913
31 PALB2 NM_024675.3(PALB2): c.3428T> C (p.Leu1143Pro) single nucleotide variant Uncertain significance rs62625284 GRCh38 Chromosome 16, 23603592: 23603592
32 PALB2 NM_024675.3(PALB2): c.3428T> C (p.Leu1143Pro) single nucleotide variant Uncertain significance rs62625284 GRCh37 Chromosome 16, 23614913: 23614913
33 PALB2 NM_024675.3(PALB2): c.395delT (p.Val132Alafs) deletion Pathogenic rs180177085 GRCh38 Chromosome 16, 23636151: 23636151
34 PALB2 NM_024675.3(PALB2): c.395delT (p.Val132Alafs) deletion Pathogenic rs180177085 GRCh37 Chromosome 16, 23647472: 23647472
35 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh38 Chromosome 16, 23635788: 23635789
36 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh37 Chromosome 16, 23647109: 23647110
37 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh38 Chromosome 16, 23635306: 23635306
38 PALB2 NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs180177100 GRCh37 Chromosome 16, 23646627: 23646627
39 PALB2 NM_024675.3(PALB2): c.1348A> C (p.Asn450His) single nucleotide variant Uncertain significance rs62625274 GRCh38 Chromosome 16, 23635198: 23635198
40 PALB2 NM_024675.3(PALB2): c.1348A> C (p.Asn450His) single nucleotide variant Uncertain significance rs62625274 GRCh37 Chromosome 16, 23646519: 23646519
41 PALB2 NM_024675.3(PALB2): c.2897T> C (p.Ile966Thr) single nucleotide variant Uncertain significance rs587780214 GRCh38 Chromosome 16, 23623068: 23623068
42 PALB2 NM_024675.3(PALB2): c.2897T> C (p.Ile966Thr) single nucleotide variant Uncertain significance rs587780214 GRCh37 Chromosome 16, 23634389: 23634389
43 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
44 PALB2 NM_024675.3(PALB2): c.3549C> A (p.Tyr1183Ter) single nucleotide variant Pathogenic rs118203998 GRCh37 Chromosome 16, 23614792: 23614792
45 PALB2 NM_024675.3(PALB2): c.1756G> A (p.Asp586Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs587781954 GRCh37 Chromosome 16, 23641719: 23641719
46 PALB2 NM_024675.3(PALB2): c.1756G> A (p.Asp586Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs587781954 GRCh38 Chromosome 16, 23630398: 23630398
47 PALB2 NM_024675.3(PALB2): c.3307G> C (p.Val1103Leu) single nucleotide variant Uncertain significance rs201657283 GRCh37 Chromosome 16, 23619228: 23619228
48 PALB2 NM_024675.3(PALB2): c.3307G> C (p.Val1103Leu) single nucleotide variant Uncertain significance rs201657283 GRCh38 Chromosome 16, 23607907: 23607907
49 PALB2 NM_024675.3(PALB2): c.2834+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587776419 GRCh38 Chromosome 16, 23624008: 23624008
50 PALB2 NM_024675.3(PALB2): c.2834+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587776419 GRCh37 Chromosome 16, 23635329: 23635329

Expression for Fanconi Anemia, Complementation Group N

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group N.

Pathways for Fanconi Anemia, Complementation Group N

GO Terms for Fanconi Anemia, Complementation Group N

Cellular components related to Fanconi Anemia, Complementation Group N according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.1 BRCA2 DCTN5 FANCB FANCI FANCM PALB2
2 Fanconi anaemia nuclear complex GO:0043240 8.96 FANCB FANCM

Biological processes related to Fanconi Anemia, Complementation Group N according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.4 BRCA2 PALB2
2 cellular response to DNA damage stimulus GO:0006974 9.35 BRCA2 FANCB FANCI FANCM PALB2
3 interstrand cross-link repair GO:0036297 9.33 FANCB FANCI FANCM
4 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 PALB2
5 inner cell mass cell proliferation GO:0001833 9.26 BRCA2 PALB2
6 multicellular organism growth GO:0035264 9.07 PALB2
7 DNA repair GO:0006281 9.02 BRCA2 FANCB FANCI FANCM PALB2

Sources for Fanconi Anemia, Complementation Group N

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