HNPCC2
MCID: CLR041
MIFTS: 35

Colorectal Cancer, Hereditary Nonpolyposis, Type 2 (HNPCC2)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 2 57 13
Hnpcc2 57 12 73
Hereditary Nonpolyposis Colorectal Cancer Type 2 12 15
Colon Cancer, Familial Nonpolyposis, Type 2 57 6
Coca2 57 12
Fcc2 57 12
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 2 39
Colon Cancer, Familial Nonpolyposis, Type 2; Fcc2 57
Hereditary Non-Polyposis Colorectal Cancer 2 73
Familial Nonpolyposis Colon Cancer Type 2 12

Characteristics:

HPO:

31
colorectal cancer, hereditary nonpolyposis, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070274
OMIM® 57 609310
OMIM Phenotypic Series 57 PS120435
MeSH 44 D003123
MedGen 41 C1333991
SNOMED-CT via HPO 68 263681008 363406005

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

UniProtKB/Swiss-Prot : 73 Hereditary non-polyposis colorectal cancer 2: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

MalaCards based summary : Colorectal Cancer, Hereditary Nonpolyposis, Type 2, also known as hnpcc2, is related to cardiofaciocutaneous syndrome 4 and cardiofaciocutaneous syndrome 3. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 2 is MLH1 (MutL Homolog 1). Affiliated tissues include colon, small intestine and ovary, and related phenotype is colon cancer.

Disease Ontology : 12 A Lynch syndrome that has material basis in mutations in the MLH1 gene on chromosome 3p22.2.

More information from OMIM: 609310 PS120435

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

31
# Description HPO Frequency HPO Source Accession
1 colon cancer 31 HP:0003003

Clinical features from OMIM®:

609310 (Updated 05-Mar-2021)

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

40
Colon, Small Intestine, Ovary, Uterus

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

(show all 49)
# Title Authors PMID Year
1
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 57 6
19419416 2009
2
The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome. 57 6
19142183 2009
3
Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression. 6 57
9245993 1997
4
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. 6 57
8145827 1994
5
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). 6 57
2022152 1991
6
Cancer risks for MLH1 and MSH2 mutation carriers. 57
23255516 2013
7
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. 6
21953887 2012
8
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families. 6
21785361 2011
9
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. 6
20858721 2010
10
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. 57
20591884 2010
11
Risk of pancreatic cancer in families with Lynch syndrome. 57
19861671 2009
12
Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. 57
18554281 2008
13
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. 6
18301449 2008
14
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 6
17440981 2007
15
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 6
16341550 2006
16
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family. 6
15923275 2006
17
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 6
16451135 2006
18
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 6
15571801 2004
19
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 6
15139004 2004
20
Germline epimutation of MLH1 in individuals with multiple cancers. 6
15064764 2004
21
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 6
14635101 2003
22
Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred. 6
12919137 2003
23
Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer. 6
12919140 2003
24
Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. 6
12112654 2002
25
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. 57
11839723 2002
26
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 6
11781295 2002
27
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 57
11524701 2001
28
Extensive somatic microsatellite mutations in normal human tissue. 6
11389087 2001
29
Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer. 6
11343035 2001
30
Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. 57
11112663 2001
31
Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer. 57
10190329 1999
32
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. 6
9927033 1999
33
Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 6
9927034 1999
34
I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. 6
9831355 1998
35
Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue. 6
9272156 1997
36
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. 6
8940269 1996
37
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 6
8574961 1996
38
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 6
8566964 1996
39
Founding mutations and Alu-mediated recombination in hereditary colon cancer. 6
7584997 1995
40
Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. 6
8581513 1995
41
The molecular basis of Turcot's syndrome. 57
7661930 1995
42
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. 57
7894494 1994
43
Sublocalization of a locus at 3p21.3-23 predisposing to hereditary nonpolyposis colon cancer. 57
8045572 1994
44
Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families. 57
8016114 1994
45
Mutation of a mutL homolog in hereditary colon cancer. 57
8128251 1994
46
Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. 57
7903889 1993
47
Effect of Co on the microstructure and oxidation behavior of CoxCrCuFeMnNi high entropy alloy powders. 61
33383274 2021
48
Synthesis of a Neutral Mixed-Valence Diferrocenyl Carborane for Molecular Quantum-Dot Cellular Automata Applications. 61
26516063 2015
49
Exploring personality clusters among parents of ED subjects. Relationship with parents' psychopathology, attachment, and family dynamics. 61
23602391 2013

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

6 (show top 50) (show all 353)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MLH1 MLH1, EPIGENETICALLY SILENCED Variation Pathogenic 17102
2 MLH1 MLH1, EX18DEL Deletion Pathogenic 17101
3 MLH1 NM_000249.3(MLH1):c.1667+1_1667+8delinsATTT Indel Pathogenic 17084 rs863223312 3:37081786-37081793 3:37040295-37040302
4 MLH1 MLH1, 3.5-KB DEL Deletion Pathogenic 17081
5 MLH1 NM_000249.3(MLH1):c.755C>A (p.Ser252Ter) SNV Pathogenic 17078 rs63750198 3:37056000-37056000 3:37014509-37014509
6 MLH1 NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) SNV Pathogenic 17098 rs63750691 3:37059012-37059012 3:37017521-37017521
7 MLH1 NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del) Microsatellite Pathogenic 90067 rs63751642 3:37042447-37042449 3:37000956-37000958
8 MLH1 NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) Microsatellite Pathogenic 89888 rs63750035 3:37089057-37089058 3:37047566-37047567
9 MLH1 NM_001167617.2(MLH1):c.-413_-412delinsAC Indel Pathogenic 17105 rs121912965 3:37035142-37035143 3:36993651-36993652
10 MLH1 NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) SNV Pathogenic 17106 rs63749939 3:37038193-37038193 3:36996702-36996702
11 MLH1 NC_000003.11:g.37089454_37101079del Deletion Pathogenic 29655
12 MLH1 NM_000249.3(MLH1):c.306+5G>A SNV Pathogenic 90148 rs267607735 3:37042549-37042549 3:37001058-37001058
13 MLH1 NM_000249.3(MLH1):c.1865T>A (p.Leu622His) SNV Pathogenic 29657 rs63750693 3:37089143-37089143 3:37047652-37047652
14 MLH1 NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) Deletion Pathogenic 90101 rs267607901 3:37092124-37092125 3:37050633-37050634
15 MLH1 NM_000249.3(MLH1):c.453+1G>T SNV Pathogenic 90223 rs267607750 3:37048555-37048555 3:37007064-37007064
16 MLH1 NM_000249.3(MLH1):c.1896G>A (p.Glu632=) SNV Pathogenic 89930 rs63751632 3:37089174-37089174 3:37047683-37047683
17 MLH1 MLH1, HYPERMETHYLATION Variation Pathogenic 17092
18 MLH1 MLH1, EX16DEL Deletion Pathogenic 17091
19 MLH1 NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) SNV Pathogenic 17088 rs63750206 3:37038192-37038192 3:36996701-36996701
20 MLH1 NM_000249.4(MLH1):c.1764del (p.Ala589fs) Deletion Pathogenic 89883 rs63751486 3:37089041-37089041 3:37047550-37047550
21 MLH1 NM_000249.3(MLH1):c.986A>C (p.His329Pro) SNV Pathogenic 17085 rs63750710 3:37061902-37061902 3:37020411-37020411
22 MLH1 NM_000249.3(MLH1):c.454-1G>A SNV Pathogenic 36553 rs193922370 3:37050304-37050304 3:37008813-37008813
23 MLH1 NM_000249.4(MLH1):c.131C>T SNV Pathogenic 17079 rs63751109 3:37038124-37038124 3:36996633-36996633
24 MLH1 NM_000249.3(MLH1):c.1400del (p.Ser467fs) Deletion Pathogenic 422036 rs1064795515 3:37067489-37067489 3:37025998-37025998
25 MLH1 NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) SNV Pathogenic 90453 rs63750796 3:37061871-37061871 3:37020380-37020380
26 MLH1 NM_000249.3(MLH1):c.589C>T (p.Gln197Ter) SNV Pathogenic 479670 rs1553644123 3:37053502-37053502 3:37012011-37012011
27 MLH1 NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) SNV Pathogenic 220069 rs267607823 3:37067335-37067335 3:37025844-37025844
28 MLH1 NM_000249.3(MLH1):c.1731G>A (p.Ser577=) SNV Pathogenic 89857 rs63751657 3:37083822-37083822 3:37042331-37042331
29 MLH1 NM_000249.3(MLH1):c.306+5G>A SNV Pathogenic 90148 rs267607735 3:37042549-37042549 3:37001058-37001058
30 MLH1 NM_000249.3(MLH1):c.885-1G>A SNV Pathogenic 580133 rs1553647894 3:37061800-37061800 3:37020309-37020309
31 MLH1 NM_000249.3(MLH1):c.1410-2_1410-1delinsCC Indel Pathogenic 585224 rs1559558071 3:37070273-37070274 3:37028782-37028783
32 MLH1 NM_000249.4(MLH1):c.514G>T (p.Glu172Ter) SNV Pathogenic 584636 rs1559524405 3:37050365-37050365 3:37008874-37008874
33 MLH1 NM_000249.4(MLH1):c.67G>T SNV Pathogenic 90331 rs63750823 3:37035105-37035105 3:36993614-36993614
34 MLH1 NM_000249.3(MLH1):c.76C>T (p.Gln26Ter) SNV Pathogenic 90347 rs63749827 3:37035114-37035114 3:36993623-36993623
35 MLH1 NM_000249.3(MLH1):c.963_1014dup (p.Ser339fs) Duplication Pathogenic 433861 rs1553648058 3:37061878-37061879 3:37020387-37020388
36 MLH1 NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) SNV Pathogenic 17087 rs63751615 3:37053589-37053589 3:37012098-37012098
37 MLH1 NM_000249.4(MLH1):c.350C>T (p.Thr117Met) SNV Pathogenic 17094 rs63750781 3:37045935-37045935 3:37004444-37004444
38 MLH1 NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) SNV Pathogenic 17097 rs63750899 3:37090053-37090053 3:37048562-37048562
39 MLH1 NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) SNV Pathogenic 17099 rs63750217 3:37090446-37090446 3:37048955-37048955
40 MLH1 NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) SNV Pathogenic 29654 rs63751194 3:37058999-37058999 3:37017508-37017508
41 MLH1 NM_000249.4(MLH1):c.1846_1848AAG[2] (p.Lys618del) Microsatellite Pathogenic 17080 rs63751247 3:37089130-37089132 3:37047632-37047634
42 MLH1 NM_000249.3(MLH1):c.1559-2A>G SNV Pathogenic 89783 rs267607836 3:37081675-37081675 3:37040184-37040184
43 MLH1 NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) SNV Pathogenic 90318 rs63751711 3:37053590-37053590 3:37012099-37012099
44 MLH1 NM_000249.4(MLH1):c.2059C>T SNV Pathogenic 90014 rs63751275 3:37090464-37090464 3:37048973-37048973
45 MLH1 NM_000249.4(MLH1):c.1489dup Duplication Pathogenic 89753 rs63750855 3:37070348-37070349 3:37028857-37028858
46 MLH1 NM_000249.3(MLH1):c.589-2A>G SNV Pathogenic 90291 rs267607767 3:37053500-37053500 3:37012009-37012009
47 MLH1 NM_001354621.1(MLH1):c.-13dup Duplication Pathogenic 89604 rs63750677 3:37061925-37061926 3:37020434-37020435
48 MLH1 NM_000249.4(MLH1):c.298C>T SNV Pathogenic 36550 rs63751221 3:37042536-37042536 3:37001045-37001045
49 MLH1 NM_000249.3(MLH1):c.545+3A>G SNV Pathogenic 90260 rs267607760 3:37050399-37050399 3:37008908-37008908
50 MLH1 NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) SNV Pathogenic 36540 rs63750540 3:37067470-37067470 3:37025979-37025979

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

73 (show top 50) (show all 76)
# Symbol AA change Variation ID SNP ID
1 MLH1 p.Pro28Leu VAR_004433 rs63750792
2 MLH1 p.Met35Arg VAR_004434 rs63749906
3 MLH1 p.Ser44Phe VAR_004436 rs63751109
4 MLH1 p.Gln62Lys VAR_004437 rs63751428
5 MLH1 p.Asn64Ser VAR_004438 rs63750952
6 MLH1 p.Gly67Arg VAR_004439 rs63750206
7 MLH1 p.Ile68Asn VAR_004440 rs63750281
8 MLH1 p.Arg69Lys VAR_004441 rs63751661
9 MLH1 p.Cys77Arg VAR_004442 rs63749859
10 MLH1 p.Ile107Arg VAR_004444 rs63750507
11 MLH1 p.Thr117Met VAR_004445 rs63750781
12 MLH1 p.Thr117Arg VAR_004446 rs63750781
13 MLH1 p.Val185Gly VAR_004447 rs63750515
14 MLH1 p.Ser193Pro VAR_004448 rs63751021
15 MLH1 p.Arg226Leu VAR_004451 rs63751711
16 MLH1 p.Val326Ala VAR_004453 rs63751049
17 MLH1 p.Ala492Thr VAR_004455 rs63751145
18 MLH1 p.Val506Ala VAR_004456 rs63749909
19 MLH1 p.Gln542Leu VAR_004457 rs63750511
20 MLH1 p.Leu574Pro VAR_004458 rs63751608
21 MLH1 p.Leu582Val VAR_004460 rs63751713
22 MLH1 p.Lys618Thr VAR_004463 rs63750449
23 MLH1 p.Arg659Pro VAR_004465 rs63749900
24 MLH1 p.Ala681Thr VAR_004466 rs63750217
25 MLH1 p.Gly67Trp VAR_012903 rs63750206
26 MLH1 p.Phe80Val VAR_012905 rs63749990
27 MLH1 p.Lys84Glu VAR_012906 rs63750641
28 MLH1 p.Ala128Pro VAR_012908 rs63750866
29 MLH1 p.Arg182Gly VAR_012909 rs63750211
30 MLH1 p.Gly244Asp VAR_012911 rs63750303
31 MLH1 p.Ser295Thr VAR_012916 rs63750144
32 MLH1 p.His329Pro VAR_012918 rs63750710
33 MLH1 p.Ala441Thr VAR_012920 rs63750365
34 MLH1 p.Leu549Pro VAR_012921 rs63750289
35 MLH1 p.Asn551Thr VAR_012922 rs63750271
36 MLH1 p.Ile565Phe VAR_012923 rs63750062
37 MLH1 p.Leu588Pro VAR_012924 rs63750575
38 MLH1 p.Leu622His VAR_012927 rs63750693
39 MLH1 p.Arg659Leu VAR_012929 rs63749900
40 MLH1 p.Ala586Pro VAR_015689 rs63751176
41 MLH1 p.Arg18Cys VAR_022663 rs367654552
42 MLH1 p.Gly101Asp VAR_022664 rs267607727
43 MLH1 p.Arg182Lys VAR_022666 rs587779021
44 MLH1 p.Tyr379Cys VAR_022667 rs143009528
45 MLH1 p.Leu559Arg VAR_022668 rs63750059
46 MLH1 p.Pro648Ser VAR_022669 rs63750899
47 MLH1 p.Ala21Val VAR_043384 rs63750706
48 MLH1 p.Ile25Phe VAR_043385 rs63749838
49 MLH1 p.Asn38His VAR_043389 rs63750580
50 MLH1 p.Asp41Gly VAR_043390 rs63751094

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 2.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein deglutamylation GO:0035608 8.62 AGBL5 AGBL4

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 9.26 AGBL5 AGBL4
2 carboxypeptidase activity GO:0004180 9.16 AGBL5 AGBL4
3 metallocarboxypeptidase activity GO:0004181 8.96 AGBL5 AGBL4
4 metallopeptidase activity GO:0008237 8.8 AGBL5 AGBL4 ADAMTS8

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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72 UMLS via Orphanet
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