Inherited Cancer-Predisposing Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: INH023 MIFTS: 46	Inherited Cancer-Predisposing Syndrome Categories: Cancer diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Inherited Cancer-Predisposing Syndrome

MalaCards integrated aliases for Inherited Cancer-Predisposing Syndrome:

Name: Inherited Cancer-Predisposing Syndrome ⁵⁹

Hereditary Cancer-Predisposing Syndrome ²⁹ ⁶

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁵⁹ ORPHA140162

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Summaries for Inherited Cancer-Predisposing Syndrome

MalaCards based summary : Inherited Cancer-Predisposing Syndrome, also known as hereditary cancer-predisposing syndrome, is related to fanconi anemia, complementation group d1 and bap1 tumor predisposition syndrome. An important gene associated with Inherited Cancer-Predisposing Syndrome is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. Affiliated tissues include bone and breast, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Inherited Cancer-Predisposing Syndrome

Diseases related to Inherited Cancer-Predisposing Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)

#	Related Disease	Score	Top Affiliating Genes
1	fanconi anemia, complementation group d1	11.6
2	bap1 tumor predisposition syndrome	11.3
3	hereditary site-specific ovarian cancer syndrome	11.0	BRCA2 BRCA1
4	nevus of ota	11.0	TP53 BAP1
5	pancreatic neuroendocrine tumor	11.0	PALB2 BRCA2 ATM
6	ring chromosome 7	11.0	TP53 CDK4
7	anal squamous cell carcinoma	11.0	TP53 CDKN2A APC
8	fanconi anemia, complementation group n	11.0	PALB2 BRIP1 BRCA2
9	isolated tracheoesophageal fistula	11.0	PALB2 FANCC BRCA2
10	tracheoesophageal fistula with or without esophageal atresia	11.0	PALB2 FANCC BRCA2
11	primary peritoneal carcinoma	11.0	TP53 BRCA2 BRCA1
12	mutagen sensitivity	11.0	TP53 BRCA2 BRCA1
13	fallopian tube carcinoma	11.0	TP53 BRCA2 BRCA1
14	dedifferentiated liposarcoma	11.0	TP53 CDKN2A CDK4
15	liposarcoma	11.0	TP53 CDKN2A CDK4
16	tongue disease	11.0	TP53 CDKN2A CDH1
17	clivus chordoma	11.0	CHEK2 CDK4 ATM
18	tonsil cancer	11.0	TP53 CDKN2A CDH1
19	cancerophobia	11.0	BRCA2 BRCA1
20	synchronous bilateral breast carcinoma	11.0	TP53 BRCA2 BRCA1 ATM
21	peritoneum cancer	11.0	PALB2 BRCA2 BRCA1 BAP1
22	breast carcinoma in situ	11.0	TP53 BRCA2 BRCA1
23	nosophobia	11.0	BRCA2 BRCA1
24	oropharynx cancer	11.0	TP53 CDKN2A CDH1
25	pharynx cancer	11.0	TP53 CDKN2A CDH1
26	tuberculous salpingitis	11.0	BRCA2 BRCA1
27	laryngeal disease	10.9	TP53 CDKN2A CDH1
28	peutz-jeghers syndrome	10.9	TP53 BRCA2 APC
29	familial colorectal cancer	10.9	TP53 CDH1 APC
30	dysgerminoma of ovary	10.9	DICER1 BRCA2 BRCA1
31	nasopharyngeal disease	10.9	TP53 CDKN2A CDH1
32	tumor predisposition syndrome	10.9	PALB2 DICER1 BRCA2 BAP1
33	glycogen-rich clear cell breast carcinoma	10.9	TP53 CDKN2A BRCA2 BRCA1
34	cervix disease	10.9	TP53 CDKN2A CDH1
35	retinal cancer	10.9	TP53 CDKN2A CDK4
36	cholecystitis	10.9	TP53 CDKN2A CDH1
37	nijmegen breakage syndrome	10.9	TP53 CHEK2 BRCA1 ATM
38	cervical squamous cell carcinoma	10.9	TP53 CDKN2A CDH1
39	ovary epithelial cancer	10.9	TP53 CDH1 BRCA2 BRCA1
40	congenital hypoplastic anemia	10.9	FANCC BRIP1 BRCA2
41	malignant ovarian surface epithelial-stromal neoplasm	10.9	TP53 CDH1 BRCA2 BRCA1
42	ovarian cancer 1	10.9	TP53 CDH1 BRCA2 BRCA1
43	fanconi anemia, complementation group j	10.9	PALB2 FANCC BRIP1 BRCA1
44	in situ carcinoma	10.9	TP53 CDKN2A CDH1 BRCA1
45	ductal carcinoma in situ	10.9	TP53 CDH1 BRCA2 BRCA1
46	ataxia-telangiectasia	10.9	TP53 CHEK2 BRCA1 ATM
47	cerebral convexity meningioma	10.9	TP53 CDH1
48	tracheoesophageal fistula	10.9	PALB2 FANCC BRIP1 BRCA2
49	familial renal oncocytoma	10.9	FLCN FH
50	pleural disease	10.9	FLCN DICER1 BAP1

Graphical network of the top 20 diseases related to Inherited Cancer-Predisposing Syndrome:

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Symptoms & Phenotypes for Inherited Cancer-Predisposing Syndrome

GenomeRNAi Phenotypes related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

²⁶ (show all 20)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	10.43	BMPR1A CDKN2A
2	Decreased viability	GR00221-A-2	10.43	BMPR1A BRCA1 CHEK2
3	Decreased viability	GR00221-A-3	10.43	ATM BMPR1A BRCA1 CDKN2A CHEK2
4	Decreased viability	GR00221-A-4	10.43	ATM BMPR1A CDKN2A CHEK2
5	Decreased viability	GR00301-A	10.43	BRCA1
6	Decreased viability	GR00342-S-2	10.43	CHEK2
7	Decreased viability	GR00402-S-2	10.43	ATM BMPR1A BRCA1 CDKN2A CHEK2
8	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	10.22	ATM BARD1 BLM BRCA1 BRCA2 CDKN2A
9	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	10.22	ATM BARD1 BLM BRCA1 BRCA2 CDKN2A
10	Decreased substrate adherent cell growth	GR00193-A-2	10.03	BMPR1A CDK4
11	Decreased substrate adherent cell growth	GR00193-A-3	10.03	BMPR1A CDK4 CHEK2
12	Decreased substrate adherent cell growth	GR00193-A-4	10.03	BMPR1A CDK4 CHEK2
13	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.03	ABRAXAS1 ATM BAP1 BARD1 BLM BRCA1
14	Decreased homologous recombination repair frequency	GR00151-A-1	10	BARD1 BRCA1
15	Decreased homologous recombination repair frequency	GR00151-A-2	10	BRCA1
16	Decreased homologous recombination repair frequency	GR00236-A-3	10	BARD1 BRCA1 BRCA2 PALB2
17	Decreased viability with cisplatin	GR00101-A-4	9.62	BARD1 BRCA1 BRCA2 BRIP1
18	Decreased viability after ionizing radiation	GR00232-A-2	9.54	ATM BRCA1 BRCA2
19	Synthetic lethal with cisplatin	GR00101-A-1	9.46	BARD1 BRCA1 BRCA2 BRIP1
20	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	9.1	APC BARD1 BRCA1 BRCA2 CDK4 FH

MGI Mouse Phenotypes related to Inherited Cancer-Predisposing Syndrome:

⁴⁶ (show all 21)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.57	APC ATM BAP1 BARD1 BLM BMPR1A
2	embryo	MP:0005380	10.45	APC ATM BAP1 BARD1 BLM BMPR1A
3	growth/size/body region	MP:0005378	10.43	APC ATM BAP1 BARD1 BLM BMPR1A
4	cardiovascular system	MP:0005385	10.41	APC ATM BAP1 BLM BMPR1A BRCA1
5	endocrine/exocrine gland	MP:0005379	10.41	APC ATM BAP1 BMPR1A BRCA1 BRCA2
6	homeostasis/metabolism	MP:0005376	10.41	APC ATM BAP1 BMPR1A BRCA1 BRCA2
7	immune system	MP:0005387	10.4	APC ATM BAP1 BLM BMPR1A BRCA1
8	hematopoietic system	MP:0005397	10.39	APC ATM BAP1 BLM BMPR1A BRCA1
9	mortality/aging	MP:0010768	10.39	APC ATM BAP1 BARD1 BLM BMPR1A
10	neoplasm	MP:0002006	10.33	APC ATM BAP1 BARD1 BLM BMPR1A
11	integument	MP:0010771	10.32	APC ATM BAP1 BLM BMPR1A BRCA1
12	digestive/alimentary	MP:0005381	10.19	APC BAP1 BRCA1 BRCA2 CDH1 CDK4
13	nervous system	MP:0003631	10.18	APC ATM BARD1 BMPR1A BRCA1 BRCA2
14	limbs/digits/tail	MP:0005371	10.04	APC BMPR1A BRCA1 BRCA2 DICER1 PALB2
15	muscle	MP:0005369	10.03	APC BAP1 BMPR1A BRCA1 CDK4 CDKN2A
16	liver/biliary system	MP:0005370	10.02	APC BRIP1 CDK4 CDKN2A DICER1 FANCC
17	normal	MP:0002873	9.96	APC BARD1 BLM BMPR1A BRCA1 BRCA2
18	no phenotypic analysis	MP:0003012	9.8	BAP1 BLM CDH1 CDKN2A DICER1 TP53
19	pigmentation	MP:0001186	9.63	APC BMPR1A BRCA1 CDK4 CDKN2A TP53
20	renal/urinary system	MP:0005367	9.5	APC BRCA1 CDK4 DICER1 FH FLCN
21	reproductive system	MP:0005389	9.44	APC ATM BAP1 BMPR1A BRCA1 BRCA2

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Drugs & Therapeutics for Inherited Cancer-Predisposing Syndrome

Search Clinical Trials , NIH Clinical Center for Inherited Cancer-Predisposing Syndrome

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Genetic Tests for Inherited Cancer-Predisposing Syndrome

Genetic tests related to Inherited Cancer-Predisposing Syndrome:

#	Genetic test	Affiliating Genes
1	Hereditary Cancer-Predisposing Syndrome ²⁹	PALB2

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Anatomical Context for Inherited Cancer-Predisposing Syndrome

MalaCards organs/tissues related to Inherited Cancer-Predisposing Syndrome:

⁴¹

Bone, Breast

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Publications for Inherited Cancer-Predisposing Syndrome

Articles related to Inherited Cancer-Predisposing Syndrome:

#	Title	Authors	PMID	Year
1	A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ⁷¹	Hampel H...Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee	25394175	2015
2	NBN Gene Analysis and it's Impact on Breast Cancer. ³⁸	Nithya P...ChandraSekar A	31278556	2019
3	Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach. ³⁸	Islam MJ...Reza MA	30884445	2019
4	Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. ³⁸	Wang Z...Wu B	29720104	2018
5	Transcriptional landscape of a RETC634Y-mutated iPSC and its CRISPR-corrected isogenic control reveals the putative role of EGR1 transcriptional program in the development of multiple endocrine neoplasia type 2A-associated cancers. ³⁸	Hadoux J...Turhan AG	29197744	2018
6	Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. ³⁸	Zeinalian M...Emami MH	28989591	2017
7	Immunohistochemical analysis of mismatch repair proteins in Iranian colorectal cancer patients at risk for lynch syndrome. ³⁸	Zeinalian M...Hashemzadeh-Chaleshtori M	25821566	2015
8	p53 and disease: when the guardian angel fails. ³⁸	Royds JA...Iacopetta B	16557268	2006
9	Challenging pedigrees seen in a hereditary cancer consultation center. ³⁸	Lynch HT...Attard TM	15350297	2004

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Genes for Inherited Cancer-Predisposing Syndrome

Genes related to Inherited Cancer-Predisposing Syndrome (56 elite genes):

(show top 50) (show all 57)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PALB2	Partner And Localizer Of BRCA2	Protein Coding	500	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹	25394175
2	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Risk factor ⁶	25394175
3	TP53	Tumor Protein P53	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Drug response ⁶	25394175
4	ABRAXAS1	Abraxas 1, BRCA1 A Complex Subunit	Protein Coding	400	Pathogenic ⁶	25394175
5	ATM	ATM Serine/Threonine Kinase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
6	BAP1	BRCA1 Associated Protein 1	Protein Coding	400	Pathogenic ⁶	25394175
7	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
8	BLM	BLM RecQ Like Helicase	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
9	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
10	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
11	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
12	BRIP1	BRCA1 Interacting Protein C-Terminal Helicase 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
13	CDH1	Cadherin 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
14	CDK4	Cyclin Dependent Kinase 4	Protein Coding	400	Pathogenic ⁶	25394175
15	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
16	CHEK2	Checkpoint Kinase 2	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
17	DICER1	Dicer 1, Ribonuclease III	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
18	FANCC	FA Complementation Group C	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
19	FH	Fumarate Hydratase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
20	FLCN	Folliculin	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
21	MAX	MYC Associated Factor X	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
22	MEN1	Menin 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
23	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	400	Pathogenic ⁶	25394175
24	MLH1	MutL Homolog 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
25	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
26	MSH2	MutS Homolog 2	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
27	MSH6	MutS Homolog 6	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
28	MUTYH	MutY DNA Glycosylase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
29	NBN	Nibrin	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
30	NF1	Neurofibromin 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
31	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
32	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
33	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	400	Pathogenic ⁶	25394175
34	PTCH1	Patched 1	Protein Coding	400	Pathogenic ⁶	25394175
35	PTEN	Phosphatase And Tensin Homolog	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
36	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
37	RAD51C	RAD51 Paralog C	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
38	RAD51D	RAD51 Paralog D	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
39	RB1	RB Transcriptional Corepressor 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
40	RECQL	RecQ Like Helicase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
41	RET	Ret Proto-Oncogene	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
42	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
43	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	400	Pathogenic ⁶	25394175
44	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
45	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
46	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	400	Pathogenic ⁶	25394175
47	SMAD4	SMAD Family Member 4	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
48	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	400	Pathogenic ⁶	25394175
49	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	400	Pathogenic ⁶	25394175
50	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	400	Pathogenic ⁶	25394175

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Variations for Inherited Cancer-Predisposing Syndrome

ClinVar genetic disease variations for Inherited Cancer-Predisposing Syndrome:

⁶ (show top 50) (show all 44774)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	ATM	NM_000051.3(ATM): c.6650_6657del (p.Phe2217fs)	deletion	Pathogenic	rs864622326	11:108196114-108196121	11:108325387-108325394
2	ATM	NM_000051.3(ATM): c.8873_8874del (p.Leu2957_Phe2958insTer)	deletion	Pathogenic	rs864622669	11:108235831-108235832	11:108365104-108365105
3	BRCA2	NM_000059.3(BRCA2): c.144del (p.Glu49fs)	deletion	Pathogenic	rs864622434	13:32893290-32893290	13:32319153-32319153
4	BRCA2	NM_000059.3(BRCA2): c.3201del (p.Val1068fs)	deletion	Pathogenic	rs864622672	13:32911693-32911693	13:32337556-32337556
5	BRCA2	NM_000059.3(BRCA2): c.5016C> G (p.Tyr1672Ter)	single nucleotide variant	Pathogenic	rs864622073	13:32913508-32913508	13:32339371-32339371
6	BRCA2	NM_000059.3(BRCA2): c.6998dup (p.Pro2334fs)	duplication	Pathogenic	rs754611265	13:32921024-32921024	13:32346887-32346887
7	PALB2	NM_024675.3(PALB2): c.3202-?_*(1_?)del	deletion	Pathogenic		16:23614779-23619333	16:23603458-23608012
8	PALB2	NM_024675.3(PALB2): c.93dup (p.Leu32fs)	duplication	Pathogenic	rs864622498	16:23649406-23649406	16:23638085-23638085
9	FLCN	NM_144997.7(FLCN): c.1252del (p.Leu418fs)	deletion	Pathogenic	rs864622651	17:17119742-17119742	17:17216428-17216428
10	NF1	NM_000267.3(NF1): c.3975-2A> G	single nucleotide variant	Pathogenic	rs864622431	17:29576000-29576000	17:31248982-31248982
11	VHL	NM_000551.3(VHL): c.555C> G (p.Tyr185Ter)	single nucleotide variant	Pathogenic	rs864622109	3:10191562-10191562	3:10149878-10149878
12	BAP1	NM_004656.4(BAP1): c.1717del (p.Leu573fs)	deletion	Pathogenic	rs869025212	3:52437444-52437444	3:52403428-52403428
13	BRCA2	NM_000059.3(BRCA2): c.4963del (p.Tyr1655fs)	deletion	Pathogenic	rs886040557	13:32913455-32913455	13:32339318-32339318
14	VHL	NM_000551.3(VHL): c.320G> A (p.Arg107His)	single nucleotide variant	Pathogenic	rs193922609	3:10183851-10183851	3:10142167-10142167
15	VHL	NM_000551.3(VHL): c.332G> A (p.Ser111Asn)	single nucleotide variant	Pathogenic	rs869025631	3:10183863-10183863	3:10142179-10142179
16	VHL	NM_000551.3(VHL): c.333C> G (p.Ser111Arg)	single nucleotide variant	Pathogenic	rs765978945	3:10183864-10183864	3:10142180-10142180
17	VHL	NM_000551.3(VHL): c.464-2A> G	single nucleotide variant	Pathogenic	rs5030816	3:10191469-10191469	3:10149785-10149785
18	BRCA2	NM_000059.3(BRCA2): c.161del (p.Asn54fs)	deletion	Pathogenic	rs878853297	13:32893307-32893307	13:32319170-32319170
19	MSH6	NM_000179.2(MSH6): c.1352del (p.Phe451fs)	deletion	Pathogenic	rs869312769	2:48026474-48026474	2:47799335-47799335
20	MSH6	NM_000179.2(MSH6): c.2846_2847AG[1] (p.Ser950fs)	short repeat	Pathogenic	rs869312770	2:48027970-48027971	2:47800831-47800832
21	BAP1	NM_004656.4(BAP1): c.1063C> T (p.Gln355Ter)	single nucleotide variant	Pathogenic	rs869312757	3:52439179-52439179	3:52405163-52405163
22	MUTYH	NM_001128425.1(MUTYH): c.1101_1119del (p.Arg368fs)	deletion	Pathogenic	rs869312771	1:45797400-45797418	1:45331728-45331746
23	BMPR1A	NM_004329.2(BMPR1A): c.-152-?_1473+?del	deletion	Pathogenic
24	BMPR1A	NM_004329.2(BMPR1A): c.3G> C (p.Met1Ile)	single nucleotide variant	Pathogenic	rs869312758	10:88635778-88635778	10:86876021-86876021
25	BMPR1A	NM_004329.2(BMPR1A): c.286_289dup (p.Ala97fs)	duplication	Pathogenic	rs869312783	10:88651939-88651942	10:86892182-86892185
26	PALB2	NM_024675.3(PALB2): c.3186del (p.Ala1063fs)	deletion	Pathogenic	rs869312774	16:23625340-23625340	16:23614019-23614019
27	PALB2	NM_024675.3(PALB2): c.1163del (p.Pro388fs)	deletion	Pathogenic	rs869312772	16:23646704-23646704	16:23635383-23635383
28	CDH1	NM_004360.5(CDH1): c.1064del (p.Gly354_Leu355insTer)	deletion	Pathogenic	rs1555515731	16:68846093-68846093	16:68812190-68812190
29	CDH1	NM_004360.5(CDH1): c.1505del (p.Gly502fs)	deletion	Pathogenic	rs869312765	16:68849602-68849602	16:68815699-68815699
30	TP53	NM_000546.5(TP53): c.202G> T (p.Glu68Ter)	single nucleotide variant	Pathogenic	rs869312782	17:7579485-7579485	17:7676167-7676167
31	SMAD4	NM_005359.5(SMAD4): c.(?_-538)_1139+?del	deletion	Pathogenic		18:48556583-48591976	18:51030213-51065606
32	SMAD4	NM_005359.5(SMAD4): c.886_895delCCCCATCCCG (p.Pro296Aspfs)	deletion	Pathogenic	rs869312781	18:48584808-48584817	18:51058438-51058447
33	STK11	NM_000455.4(STK11): c.(?_-1)_920+?del	deletion	Pathogenic		19:1206912-1222005	19:1206913-1222006
34	BRCA2	NM_000059.3(BRCA2): c.1329del (p.Asn444fs)	deletion	Pathogenic	rs869320781	13:32906944-32906944	13:32332807-32332807
35	BRCA2	NM_000059.3(BRCA2): c.3323del (p.Lys1108fs)	deletion	Pathogenic	rs869320782	13:32911815-32911815	13:32337678-32337678
36	BRCA2	NM_000059.3(BRCA2): c.4615_4616del (p.Leu1539fs)	deletion	Pathogenic	rs869320783	13:32913107-32913108	13:32338970-32338971
37	BRCA2	NM_000059.3(BRCA2): c.7575del (p.Ala2526fs)	deletion	Pathogenic	rs869320797	13:32930704-32930704	13:32356567-32356567
38	BRCA2	NM_000059.3(BRCA2): c.8930del (p.Tyr2977fs)	deletion	Pathogenic	rs869320799	13:32953629-32953629	13:32379492-32379492
39	BRCA1	NM_007294.3(BRCA1): c.886del (p.Arg296fs)	deletion	Pathogenic	rs869320786	17:41246662-41246662	17:43094645-43094645
40	DICER1	NM_177438.2(DICER1): c.4407_4410del (p.Ser1470fs)	deletion	Pathogenic	rs875989784	14:95562847-95562850	14:95096510-95096513
41	MSH2	NM_000251.2(MSH2): c.1384C> T (p.Gln462Ter)	single nucleotide variant	Pathogenic	rs876657701	2:47672794-47672794	2:47445655-47445655
42	NF1	NM_000267.3(NF1): c.5242C> T (p.Arg1748Ter)	single nucleotide variant	Pathogenic	rs876657714	17:29654553-29654553	17:31327535-31327535
43	MSH6	NM_000179.2(MSH6): c.599C> G (p.Ser200Ter)	single nucleotide variant	Pathogenic	rs63751077	2:48023174-48023174	2:47796035-47796035
44	MSH6	NM_000179.2(MSH6): c.1969del (p.Gln657fs)	deletion	Pathogenic	rs876661205	2:48027091-48027091	2:47799952-47799952
45	MSH6	NM_000179.2(MSH6): c.3491dup (p.Cys1165fs)	duplication	Pathogenic	rs876661073	2:48032101-48032101	2:47804962-47804962
46	PMS2	NM_000535.7(PMS2): c.2445+1G> T	single nucleotide variant	Pathogenic	rs876661113	7:6017218-6017218	7:5977587-5977587
47	PMS2	NM_000535.7(PMS2): c.631C> T (p.Arg211Ter)	single nucleotide variant	Pathogenic	rs760228510	7:6038813-6038813	7:5999182-5999182
48	PTEN	NM_000314.7(PTEN): c.17_18del (p.Lys6fs)	deletion	Pathogenic	rs121913290	10:89624243-89624244	10:87864486-87864487
49	BRCA2	NM_000059.3(BRCA2): c.3055_3056CT[2] (p.Leu1019_Ser1020insTer)	short repeat	Pathogenic	rs876661270	13:32911551-32911552	13:32337414-32337415
50	BRCA2	NM_000059.3(BRCA2): c.5134G> T (p.Gly1712Ter)	single nucleotide variant	Pathogenic	rs876661056	13:32913626-32913626	13:32339489-32339489

Sources

Expression for Inherited Cancer-Predisposing Syndrome

Search GEO for disease gene expression data for Inherited Cancer-Predisposing Syndrome.

Sources

Pathways for Inherited Cancer-Predisposing Syndrome

Pathways related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

(show all 50)

#	Super pathways	Score	Top Affiliating Genes
1	Gene Expression ⁶⁶ Show member pathways Generic Transcription Pathway ⁶⁶	13.83	TP53 FANCC DICER1 CHEK2 CDKN2A BRIP1
2	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	13.46	TP53 CHEK2 CDKN2A CDK4 BRIP1 BRCA2
3	DNA Double-Strand Break Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	13.15	TP53 PALB2 FANCC CHEK2 BRIP1 BRCA2
4	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	13.01	TP53 FANCC CHEK2 CDKN2A BRIP1 BRCA1
5	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.97	TP53 CHEK2 BRIP1 BRCA2 BRCA1 BARD1
6	Endometrial cancer ³⁷ Show member pathways Acute myeloid leukemia ³⁷ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁶ Chronic myeloid leukemia ³⁷ Colorectal cancer ³⁷ Pancreatic cancer ³⁷ Prostate cancer ³⁷ Signal transduction PTEN pathway ²² Thyroid cancer ³⁷	12.9	TP53 CDKN2A CDK4 CDH1 BRCA2 APC
7	Pathways in cancer ³⁷	12.88	TP53 FH CDKN2A CDK4 CDH1 BRCA2
8	Deubiquitination ⁶⁶ Show member pathways Ub-specific processing proteases ⁶⁶	12.87	TP53 BRCA1 BARD1 BAP1 APC ABRAXAS1
9	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.8	TP53 CDKN2A CDK4 CDH1 BRCA2 BRCA1
10	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.76	TP53 FANCC CHEK2 CDK4 BRCA2 BRCA1
11	Glioma ³⁷ Show member pathways Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.74	TP53 CDKN2A CDK4 CDH1 BRCA2 BRCA1
12	Cell Cycle Checkpoints ⁶⁶ Show member pathways G2/M Checkpoints ⁶⁶	12.67	TP53 CHEK2 BRIP1 BRCA1 BLM BARD1
13	MicroRNAs in cancer ³⁷	12.57	TP53 DICER1 CDKN2A BRCA1 ATM APC
14	Meiosis ⁶⁶ Show member pathways Meiotic recombination ⁶⁶ Meiotic synapsis ⁶⁶	12.54	CDK4 BRCA2 BRCA1 BLM ATM
15	DNA Damage ⁴	12.45	TP53 CHEK2 CDKN2A CDK4 BRIP1 BRCA2
16	Apoptosis Pathway ⁷¹ Show member pathways Akt Pathway ⁷¹ NF-kappaB Pathway ⁷¹	12.43	TP53 CHEK2 BMPR1A ATM
17	DNA Double Strand Break Response ⁶⁶ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁶ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁶ Sensing of DNA Double Strand Breaks ⁶⁶	12.43	TP53 CHEK2 BRCA1 BARD1 BAP1 ATM
18	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁷	12.42	TP53 CHEK2 CDKN2A CDK4 BRCA1 ATM
19	WNT Signaling ⁶⁴	12.41	TP53 CDK4 CDH1 APC
20	Cell cycle ¹ ³⁷	12.41	TP53 CHEK2 CDKN2A CDK4 CDH1 ATM
21	Human T-cell leukemia virus 1 infection ³⁷	12.4	TP53 CHEK2 CDKN2A CDK4 ATM APC
22	Cyclins and Cell Cycle Regulation ⁶⁴ Show member pathways Cell Cycle Control by BTG Proteins ⁶⁴ Cyclin D associated events in G1 ⁶⁶ G1 Phase ⁶⁶ G1-S Phase Transition ⁶⁴ Phosphorylation of proteins involved in G1/S transition by active Cyclin E-Cdk2 complexes ⁶⁶	12.35	TP53 CDKN2A CDK4 ATM
23	Homologous DNA Pairing and Strand Exchange ⁶⁶ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁶ HDR through Single Strand Annealing (SSA) ⁶⁶ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁶	12.32	PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
24	p53 Signaling ⁶⁴ Show member pathways p53 Pathway ⁶⁷	12.29	TP53 CHEK2 CDK4 BRCA1 ATM
25	Cell cycle Role of SCF complex in cell cycle regulation ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Regulation of G1/S transition (part 1) ²² Immune response MIF-JAB1 signaling ²²	12.24	CHEK2 CDKN2A CDK4 BRCA1
26	Cellular senescence (KEGG) ³⁷	12.22	TP53 CHEK2 CDKN2A CDK4 ATM
27	DNA Damage Response (only ATM dependent) ¹	12.03	TP53 CDKN2A ATM APC
28	Glioblastoma Multiforme ⁶⁴	12.01	TP53 CDKN2A CDK4 APC
29	ATM Pathway ⁶⁴ Show member pathways ATM Signaling Pathway ¹	11.9	TP53 CHEK2 BRCA1 ATM
30	Fanconi anemia pathway ⁶⁶ ³⁷	11.9	PALB2 FANCC BRIP1 BRCA2 BRCA1 BLM
31	Retinoblastoma (RB) in Cancer ¹	11.83	TP53 CDK4 BARD1
32	Regulation of TP53 Expression and Degradation ⁶⁶ Show member pathways Regulation of TP53 Degradation ⁶⁶ Regulation of TP53 Expression ⁶⁶	11.81	TP53 CHEK2 CDKN2A ATM
33	Platinum drug resistance ³⁷	11.8	TP53 CDKN2A BRCA1 ATM
34	Bladder cancer ³⁷ ¹	11.8	TP53 CDKN2A CDK4 CDH1
35	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.75	TP53 CHEK2 BRCA1 ATM
36	p53 pathway ¹	11.64	TP53 CHEK2 ATM
37	DNA damage_Role of Brca1 and Brca2 in DNA repair ²²	11.58	TP53 CHEK2 BRIP1 BRCA2 BRCA1 BARD1
38	Cell cycle Role of 14-3-3 proteins in cell cycle regulation ²² Show member pathways 14-3-3 and Cell Cycle Regulation ⁶⁴	11.52	TP53 CHEK2 ATM
39	Integrated Breast Cancer Pathway ¹	11.51	TP53 CHEK2 CDK4 CDH1 BRCA2 BRCA1
40	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.48	TP53 FANCC CHEK2 BRCA2 BRCA1 BLM
41	Integrated Cancer Pathway ¹	11.46	TP53 CHEK2 CDK4 BRCA1 BLM BARD1
42	Metalloprotease DUBs ⁶⁶	11.44	BRCA1 BARD1 ABRAXAS1
43	FOXM1 transcription factor network ¹	11.43	CHEK2 CDK4 BRCA2
44	GADD45 Pathway ⁶⁴	11.37	TP53 CDK4 BRCA1 ATM
45	Oncogene Induced Senescence ⁶⁶	11.35	TP53 CDKN2A CDK4
46	DNA damage_ATM/ATR regulation of G1/S checkpoint ²²	11.34	TP53 CHEK2 CDK4 BRCA1 BLM BARD1
47	BARD1 signaling events ¹	11.26	TP53 FANCC BRCA1 BARD1 ATM
48	TP53 Network ¹ Show member pathways Activation, translocation and oligomerization of BAX ⁶⁶	11.18	TP53 CDKN2A ATM
49	DNA Damage Induced 14-3-3Sigma Signaling ⁶⁴	11.11	TP53 BRCA1 ATM
50	PLK3 signaling events ¹	10.39	TP53 CHEK2

Sources

GO Terms for Inherited Cancer-Predisposing Syndrome

Cellular components related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	PML body	GO:0016605	9.61	TP53 CHEK2 BLM
2	chromosome, telomeric region	GO:0000781	9.58	CHEK2 BLM ATM
3	lateral element	GO:0000800	9.5	BRCA2 BRCA1 BLM
4	nucleoplasm	GO:0005654	9.5	TP53 PALB2 FANCC CHEK2 CDKN2A CDK4
5	BRCA1-BARD1 complex	GO:0031436	9.37	BRCA1 BARD1
6	BRCA1-A complex	GO:0070531	9.13	BRCA1 BARD1 ABRAXAS1
7	cytoplasm	GO:0005737	10.19	TP53 FLCN FH FANCC DICER1 CHEK2
8	nucleus	GO:0005634	10.09	TP53 PALB2 FLCN FANCC DICER1 CHEK2

Biological processes related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

(show all 35)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of apoptotic process	GO:0043065	9.98	TP53 FLCN CDKN2A CDK4 BARD1 ATM
2	protein deubiquitination	GO:0016579	9.95	TP53 BRCA1 BARD1 BAP1 APC ABRAXAS1
3	DNA replication	GO:0006260	9.93	BRIP1 BRCA1 BLM BARD1 ATM
4	cell cycle arrest	GO:0007050	9.91	TP53 CDKN2A BARD1 ATM APC
5	DNA recombination	GO:0006310	9.88	PALB2 BRCA2 BRCA1 BLM
6	double-strand break repair via homologous recombination	GO:0000724	9.86	PALB2 BRCA2 BRCA1 BLM
7	response to toxic substance	GO:0009636	9.84	CDK4 CDH1 BRIP1
8	regulation of signal transduction by p53 class mediator	GO:1901796	9.83	TP53 CHEK2 ATM
9	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.83	CHEK2 BRCA2 BRCA1 ATM
10	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:0006977	9.8	TP53 CHEK2 ATM
11	nucleotide-excision repair	GO:0006289	9.8	TP53 FANCC BRIP1 BRCA2
12	response to ionizing radiation	GO:0010212	9.79	BRCA1 ATM ABRAXAS1
13	DNA damage checkpoint	GO:0000077	9.77	CHEK2 BRIP1 ATM
14	response to gamma radiation	GO:0010332	9.77	TP53 CHEK2 BRCA2
15	double-strand break repair	GO:0006302	9.77	CHEK2 BRIP1 BRCA2 BRCA1 ABRAXAS1
16	cellular response to gamma radiation	GO:0071480	9.76	TP53 CHEK2 ATM
17	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	GO:0042771	9.74	TP53 CHEK2 BRCA2
18	double-strand break repair via nonhomologous end joining	GO:0006303	9.71	BRCA1 BARD1 ATM ABRAXAS1
19	inner cell mass cell proliferation	GO:0001833	9.66	PALB2 BRCA2
20	signal transduction involved in G2 DNA damage checkpoint	GO:0072425	9.66	BRCA1 ABRAXAS1
21	replication fork protection	GO:0048478	9.65	BRCA2 BLM
22	DNA strand renaturation	GO:0000733	9.65	TP53 BLM
23	DNA repair	GO:0006281	9.65	PALB2 FANCC CHEK2 BRIP1 BRCA2 BRCA1
24	protein K6-linked ubiquitination	GO:0085020	9.64	BRCA1 BARD1
25	DNA damage induced protein phosphorylation	GO:0006975	9.63	CHEK2 ATM
26	cellular response to indole-3-methanol	GO:0071681	9.62	CDH1 BRCA1
27	DNA double-strand break processing	GO:0000729	9.62	BRCA1 BLM BARD1 ATM
28	chordate embryonic development	GO:0043009	9.61	BRCA2 BRCA1
29	replicative senescence	GO:0090399	9.56	TP53 CHEK2 CDKN2A ATM
30	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	9.46	TP53 CHEK2 BRCA2 BRCA1
31	cellular response to DNA damage stimulus	GO:0006974	9.4	TP53 PALB2 FANCC CHEK2 BRIP1 BRCA2
32	meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	GO:0010705	9.3	BRIP1
33	cell cycle	GO:0007049	10.09	TP53 CHEK2 CDKN2A CDK4 BRCA2 BRCA1
34	positive regulation of transcription, DNA-templated	GO:0045893	10.06	TP53 CHEK2 CDKN2A CDH1 BRCA2 BRCA1
35	negative regulation of cell proliferation	GO:0008285	10.04	TP53 CDKN2A BRIP1 BAP1 APC

Molecular functions related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	9.91	TP53 PALB2 DICER1 CDKN2A BRIP1 BRCA2
2	ATP binding	GO:0005524	9.76	TP53 DICER1 CHEK2 CDK4 BRIP1 BMPR1A
3	ubiquitin protein ligase binding	GO:0031625	9.73	TP53 CHEK2 BRCA1 APC
4	protein binding	GO:0005515	9.62	TP53 PALB2 FLCN FH FANCC DICER1
5	nucleotide binding	GO:0000166	9.43	DICER1 CHEK2 CDK4 BRIP1 BLM ATM
6	ATP-dependent helicase activity	GO:0008026	9.4	BRIP1 BLM
7	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	9.37	BRIP1 BLM
8	gamma-catenin binding	GO:0045295	9.32	CDH1 APC

Sources

Sources for Inherited Cancer-Predisposing Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

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⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia