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 ⁵⁸

Hereditary Cancer-Predisposing Syndrome ²⁹ ⁶

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁵⁸ 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 ERK Signaling and Gene Expression. Affiliated tissues include breast, lung and skin, 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 179)

#	Related Disease	Score	Top Affiliating Genes
1	fanconi anemia, complementation group d1	33.3	PALB2 FANCC BRIP1 BRCA2 BRCA1
2	bap1 tumor predisposition syndrome	11.3
3	nevus of ota	10.8	TP53 BAP1
4	hereditary site-specific ovarian cancer syndrome	10.8	BRCA2 BRCA1
5	ring chromosome 7	10.8	TP53 CDK4
6	serous cystadenocarcinoma	10.7	TP53 BRCA2 BRCA1
7	rare malignant breast tumor	10.7	BRCA2 BRCA1
8	hyperplastic polyposis syndrome	10.7	TP53 APC
9	mediastinum liposarcoma	10.7	CDKN2A CDK4 ATM
10	endosalpingiosis	10.7	TP53 BRCA2 BRCA1
11	vulvar intraepithelial neoplasia	10.7	TP53 CDKN2A CDH1
12	synchronous bilateral breast carcinoma	10.7	BRCA2 BRCA1
13	mutagen sensitivity	10.7	TP53 BRCA2 BRCA1
14	esophagus verrucous carcinoma	10.7	TP53 CDKN2A CDH1
15	primary peritoneal carcinoma	10.7	TP53 BRCA2 BRCA1
16	urethra clear cell adenocarcinoma	10.7	TP53 CDKN2A ATM
17	familial ovarian cancer	10.7	BRIP1 BRCA2 BRCA1
18	anal squamous cell carcinoma	10.7	TP53 CDKN2A APC
19	tracheoesophageal fistula with or without esophageal atresia	10.7	PALB2 FANCC BRCA2
20	hypertrophy of breast	10.7	TP53 BRCA2 BRCA1
21	malignant peritoneal mesothelioma	10.7	CDKN2A BAP1
22	mediastinum sarcoma	10.7	CDKN2A CDK4 ATM
23	breast juvenile papillomatosis	10.7	BRCA2 BRCA1
24	acinar cell carcinoma	10.7	TP53 BRCA2 APC
25	connective tissue benign neoplasm	10.7	TP53 CDK4 APC
26	female reproductive endometrioid cancer	10.7	TP53 BRCA2 BRCA1
27	dedifferentiated liposarcoma	10.7	TP53 CDKN2A CDK4
28	papillary serous adenocarcinoma	10.7	TP53 BRCA2 BRCA1
29	fallopian tube disease	10.7	TP53 BRCA2 BRCA1
30	familial colorectal cancer	10.7	TP53 CDH1 APC
31	familial retinoblastoma	10.7	TP53 CDKN2A CDK4
32	tetraploidy	10.7	BRCA2 BRCA1
33	esophageal atresia/tracheoesophageal fistula	10.7	FANCC BRIP1 BRCA2
34	cancerophobia	10.7	BRCA2 BRCA1
35	myasthenic syndrome, congenital, 6, presynaptic	10.7	TP53 BRCA2 BRCA1
36	hypopharynx cancer	10.7	TP53 CDKN2A CDH1
37	respiratory system benign neoplasm	10.7	TP53 CDKN2A CDH1
38	colonic benign neoplasm	10.7	TP53 CDH1 APC
39	tumor predisposition syndrome	10.7	PALB2 DICER1 BRCA2 BAP1
40	ovarian seromucinous carcinoma	10.7	TP53 CDKN2A
41	sarcomatoid transitional cell carcinoma	10.7	TP53 CDH1
42	wilms tumor predisposition	10.7	TP53 DICER1 BRCA2 BLM
43	esophagus adenocarcinoma	10.7	TP53 CDKN2A CDH1
44	lobular neoplasia	10.7	TP53 CDH1 BRCA2 BRCA1
45	intrahepatic cholangiocarcinoma	10.7	TP53 CDH1 BAP1 APC
46	thoracic benign neoplasm	10.7	TP53 CDH1 BRCA2 BRCA1
47	breast benign neoplasm	10.7	TP53 CDH1 BRCA2 BRCA1
48	cholangiocarcinoma	10.7	TP53 CDH1 BAP1 APC
49	pleural cancer	10.7	TP53 CDKN2A BAP1
50	luminal breast carcinoma	10.7	TP53 CDH1 BRCA1

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 19)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	10.39	BMPR1A CDKN2A
2	Decreased viability	GR00221-A-2	10.39	BMPR1A BRCA1 CHEK2
3	Decreased viability	GR00221-A-3	10.39	ATM BMPR1A BRCA1 CDKN2A CHEK2
4	Decreased viability	GR00221-A-4	10.39	ATM BMPR1A CDKN2A CHEK2
5	Decreased viability	GR00301-A	10.39	BRCA1
6	Decreased viability	GR00342-S-2	10.39	CHEK2
7	Decreased viability	GR00402-S-2	10.39	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	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.03	ABRAXAS1 ATM BAP1 BARD1 BLM BRCA1
11	Decreased substrate adherent cell growth	GR00193-A-2	10.01	BMPR1A CDK4
12	Decreased substrate adherent cell growth	GR00193-A-3	10.01	BMPR1A CDK4 CHEK2
13	Decreased substrate adherent cell growth	GR00193-A-4	10.01	BMPR1A CDK4 CHEK2
14	Decreased homologous recombination repair frequency	GR00151-A-1	9.98	BARD1 BRCA1
15	Decreased homologous recombination repair frequency	GR00151-A-2	9.98	BRCA1
16	Decreased homologous recombination repair frequency	GR00236-A-3	9.98	BARD1 BRCA1 BRCA2 PALB2
17	Decreased viability with cisplatin	GR00101-A-4	9.62	BARD1 BRCA1 BRCA2 BRIP1
18	Synthetic lethal with cisplatin	GR00101-A-1	9.46	BARD1 BRCA1 BRCA2 BRIP1
19	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:

⁴⁵ (show all 20)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.56	ABRAXAS1 APC ATM BAP1 BARD1 BLM
2	embryo	MP:0005380	10.44	APC ATM BAP1 BARD1 BLM BMPR1A
3	endocrine/exocrine gland	MP:0005379	10.4	APC ATM BAP1 BMPR1A BRCA1 BRCA2
4	homeostasis/metabolism	MP:0005376	10.4	ABRAXAS1 APC ATM BAP1 BMPR1A BRCA1
5	growth/size/body region	MP:0005378	10.39	APC ATM BAP1 BARD1 BLM BMPR1A
6	mortality/aging	MP:0010768	10.39	ABRAXAS1 APC ATM BAP1 BARD1 BLM
7	hematopoietic system	MP:0005397	10.38	APC ATM BAP1 BLM BMPR1A BRCA1
8	cardiovascular system	MP:0005385	10.37	APC ATM BAP1 BLM BMPR1A BRCA1
9	immune system	MP:0005387	10.36	APC ATM BAP1 BLM BMPR1A BRCA1
10	integument	MP:0010771	10.31	APC ATM BAP1 BLM BMPR1A BRCA1
11	neoplasm	MP:0002006	10.3	ABRAXAS1 APC ATM BAP1 BARD1 BLM
12	digestive/alimentary	MP:0005381	10.18	APC BAP1 BRCA1 BRCA2 CDH1 CDK4
13	nervous system	MP:0003631	10.13	APC ATM BARD1 BMPR1A BRCA1 BRCA2
14	limbs/digits/tail	MP:0005371	10.02	APC BMPR1A BRCA1 BRCA2 DICER1 PALB2
15	muscle	MP:0005369	10.01	APC BAP1 BMPR1A BRCA1 CDK4 CDKN2A
16	liver/biliary system	MP:0005370	10	APC BRIP1 CDK4 CDKN2A DICER1 FANCC
17	normal	MP:0002873	9.96	APC BARD1 BLM BMPR1A BRCA1 BRCA2
18	reproductive system	MP:0005389	9.8	APC ATM BAP1 BMPR1A BRCA1 BRCA2
19	pigmentation	MP:0001186	9.63	APC BMPR1A BRCA1 CDK4 CDKN2A TP53
20	skeleton	MP:0005390	9.32	APC BMPR1A BRCA1 BRCA2 CDK4 CDKN2A

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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:

⁴⁰

Breast, Lung, Skin, Ovary, T Cells, Tongue, Bone

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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. ⁶	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. ⁶¹	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. ⁶¹	Islam MJ...Reza MA	30884445	2019
4	Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. ⁶¹	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. ⁶¹	Hadoux J...Turhan AG	29197744	2018
6	Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. ⁶¹	Zeinalian M...Emami MH	28989591	2017
7	Immunohistochemical analysis of mismatch repair proteins in Iranian colorectal cancer patients at risk for lynch syndrome. ⁶¹	Zeinalian M...Hashemzadeh-Chaleshtori M	25821566	2015
8	p53 and disease: when the guardian angel fails. ⁶¹	Royds JA...Iacopetta B	16557268	2006
9	Challenging pedigrees seen in a hereditary cancer consultation center. ⁶¹	Lynch HT...Attard TM	15350297	2004

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Genes for Inherited Cancer-Predisposing Syndrome

Genes related to Inherited Cancer-Predisposing Syndrome (57 elite genes):

(show top 50) (show all 58)

- 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 ⁶ Pathogenic/Likely 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	EXT2	Exostosin Glycosyltransferase 2	Protein Coding	400	Pathogenic ⁶	25394175
19	FANCC	FA Complementation Group C	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
20	FH	Fumarate Hydratase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
21	FLCN	Folliculin	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
22	MAX	MYC Associated Factor X	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
23	MEN1	Menin 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
24	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	400	Pathogenic ⁶	25394175
25	MLH1	MutL Homolog 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
26	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
27	MSH2	MutS Homolog 2	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
28	MSH6	MutS Homolog 6	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
29	MUTYH	MutY DNA Glycosylase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
30	NBN	Nibrin	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
31	NF1	Neurofibromin 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
32	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
33	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
34	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	400	Pathogenic ⁶	25394175
35	PTCH1	Patched 1	Protein Coding	400	Pathogenic ⁶	25394175
36	PTEN	Phosphatase And Tensin Homolog	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
37	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
38	RAD51C	RAD51 Paralog C	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
39	RAD51D	RAD51 Paralog D	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
40	RB1	RB Transcriptional Corepressor 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
41	RECQL	RecQ Like Helicase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
42	RET	Ret Proto-Oncogene	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
43	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
44	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	400	Pathogenic ⁶	25394175
45	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
46	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
47	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	400	Pathogenic ⁶	25394175
48	SMAD4	SMAD Family Member 4	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
49	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	400	Pathogenic ⁶	25394175
50	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, 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 44730) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	BRCA2	NM_000059.3(BRCA2):c.9608_9609AC[1] (p.Thr3204fs)	short repeat	Pathogenic	479401	rs1555289791	13:32971141-32971142	13:32397004-32397005
2	PALB2	NM_024675.3(PALB2):c.2632G>T (p.Glu878Ter)	SNV	Pathogenic	484176	rs1555459999	16:23637673-23637673	16:23626352-23626352
3	PALB2	NM_024675.3(PALB2):c.1677del (p.Gln559_Val560insTer)	deletion	Pathogenic	482002	rs515726073	16:23646190-23646190	16:23634869-23634869
4	PALB2	NM_024675.3(PALB2):c.1429del (p.Thr477fs)	deletion	Pathogenic	484235	rs1555461287	16:23646438-23646438	16:23635117-23635117
5	PALB2	NM_024675.3(PALB2):c.2194_2200del (p.Gly732fs)	deletion	Pathogenic	486005	rs1555460457	16:23641275-23641281	16:23629954-23629960
6	PALB2	NM_024675.3(PALB2):c.2175_2176del (p.Pro726fs)	deletion	Pathogenic	480246	rs1555460463	16:23641299-23641300	16:23629978-23629979
7	PALB2	NM_024675.3(PALB2):c.1327A>T (p.Lys443Ter)	SNV	Pathogenic	484160	rs1555461339	16:23646540-23646540	16:23635219-23635219
8	PALB2	NM_024675.3(PALB2):c.1059_1077delinsGG (p.Ser354fs)	indel	Pathogenic	484183	rs1555461460	16:23646790-23646808	16:23635469-23635487
9	RB1	NM_000321.2(RB1):c.1421+1del	deletion	Pathogenic	486293	rs1555286576	13:48954220-48954220	13:48380084-48380084
10	PALB2	NM_024675.3(PALB2):c.1675C>T (p.Gln559Ter)	SNV	Pathogenic	480240	rs1555461154	16:23646192-23646192	16:23634871-23634871
11	PALB2	NM_024675.3(PALB2):c.1064del (p.Ser354_Leu355insTer)	deletion	Pathogenic	482027	rs1555461472	16:23646803-23646803	16:23635482-23635482
12	PALB2	NM_024675.3(PALB2):c.1440del (p.Lys480fs)	deletion	Pathogenic	486003	rs1555461278	16:23646427-23646427	16:23635106-23635106
13	PALB2	NM_024675.3(PALB2):c.1873del (p.Glu625fs)	deletion	Pathogenic	482064	rs1555460609	16:23641602-23641602	16:23630281-23630281
14	MAX	NM_002382.5(MAX):c.98dup (p.Arg35fs)	duplication	Pathogenic	480770	rs1555343169	14:65560498-65560499	14:65093780-65093781
15	PALB2	NM_024675.3(PALB2):c.1008_1009del (p.Leu337fs)	deletion	Pathogenic	484180	rs1555461502	16:23646858-23646859	16:23635537-23635538
16	PALB2	NM_024675.3(PALB2):c.854C>G (p.Ser285Ter)	SNV	Pathogenic	486026	rs180177094	16:23647013-23647013	16:23635692-23635692
17	PALB2	NM_024675.3(PALB2):c.844_847del (p.Arg282fs)	deletion	Pathogenic	482007	rs1555461586	16:23647020-23647023	16:23635699-23635702
18	PALB2	NM_024675.3(PALB2):c.839del (p.Asn280fs)	deletion	Pathogenic	480243	rs1555461597	16:23647028-23647028	16:23635707-23635707
19	PALB2	NM_024675.3(PALB2):c.1071_1072delTC	short repeat	Pathogenic	480287	rs1555461467	16:23646795-23646796	16:23635474-23635475
20	PALB2	NM_024675.3(PALB2):c.1031del (p.Asn344fs)	deletion	Pathogenic	480252	rs1485260432	16:23646836-23646836	16:23635515-23635515
21	CDH1	NM_004360.5(CDH1):c.529C>T (p.Gln177Ter)	SNV	Pathogenic	481011	rs1555515232	16:68842468-68842468	16:68808565-68808565
22	PALB2	NM_024675.3(PALB2):c.682C>T (p.Gln228Ter)	SNV	Pathogenic	484222	rs1327399690	16:23647185-23647185	16:23635864-23635864
23	PALB2	NM_024675.3(PALB2):c.639del (p.Thr214fs)	deletion	Pathogenic	480268	rs1555461695	16:23647228-23647228	16:23635907-23635907
24	CDH1	NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)	SNV	Pathogenic	483227	rs1555514464	16:68835717-68835717	16:68801814-68801814
25	CDH1	NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)	indel	Pathogenic	479524	rs1555515217	16:68842419-68842425	16:68808516-68808522
26	CDH1	NM_004360.5(CDH1):c.594_595insT (p.Thr199fs)	insertion	Pathogenic	485476	rs1555515264	16:68842658-68842659	16:68808755-68808756
27	CDH1	NM_004360.5(CDH1):c.687+1_687+2del	deletion	Pathogenic	483268	rs1555515296	16:68842751-68842752	16:68808848-68808849
28	CDH1	NM_004360.5(CDH1):c.1085del (p.Val362fs)	deletion	Pathogenic	483264	rs1555515739	16:68846114-68846114	16:68812211-68812211
29	CDH1	NM_004360.5(CDH1):c.2T>C (p.Met1Thr)	SNV	Pathogenic	486826	rs1555509623	16:68771320-68771320	16:68737417-68737417
30	CDH1	NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)	SNV	Pathogenic	485481	rs778871891	16:68849577-68849577	16:68815674-68815674
31	CDH1	NM_004360.5(CDH1):c.382del (p.His128fs)	deletion	Pathogenic	486824	rs1555514492	16:68835788-68835788	16:68801885-68801885
32	BLM	NM_000057.4(BLM):c.1500del (p.Phe500fs)	deletion	Pathogenic	485348	rs1555419889	15:91304101-91304101	15:90760871-90760871
33	CDH1	NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)	deletion	Pathogenic	483276	rs1555517074	16:68857312-68857313	16:68823409-68823410
34	CDH1	NM_004360.5(CDH1):c.1636del (p.Ala546fs)	deletion	Pathogenic	481028	rs1555516556	16:68853251-68853251	16:68819348-68819348
35	CDH1	NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)	duplication	Pathogenic	479514	rs1555516567	16:68853295-68853296	16:68819392-68819393
36	CDH1	NM_004360.5(CDH1):c.1390del (p.Val464fs)	deletion	Pathogenic	483271	rs1555516111	16:68849486-68849486	16:68815583-68815583
37	NF1	NM_001042492.2(NF1):c.240_241TC[2] (p.Ser82_Gln83insTer)	short repeat	Pathogenic	484139	rs771115661	17:29486063-29486066	17:31159045-31159048
38	NF1	NM_000267.3(NF1):c.560del (p.Cys187fs)	deletion	Pathogenic	480102	rs1555607107	17:29496989-29496989	17:31169971-31169971
39	NF1	NM_000267.3(NF1):c.663G>A (p.Trp221Ter)	SNV	Pathogenic	484076	rs1555608737	17:29508736-29508736	17:31181718-31181718
40	CDH1	NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter)	SNV	Pathogenic	479504	rs1555518239	16:68867259-68867259	16:68833356-68833356
41	NF1	NM_000267.3(NF1):c.955del (p.Ser319fs)	deletion	Pathogenic	481958	rs876660931	17:29527504-29527504	17:31200486-31200486
42	FLCN	NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)	duplication	Pathogenic	485615	rs1555607640	17:17119706-17119707	17:17216392-17216393
43	FLCN	NM_144997.7(FLCN):c.1153del (p.Gln385fs)	deletion	Pathogenic	485603	rs1555607960	17:17120406-17120406	17:17217092-17217092
44	PALB2	NM_024675.3(PALB2):c.3246dup (p.Glu1083Ter)	duplication	Pathogenic	480277	rs1555458211	16:23619288-23619289	16:23607967-23607968
45	NF1	NM_000267.3(NF1):c.191del (p.Asn64fs)	deletion	Pathogenic	481972	rs1555604941	17:29483130-29483130	17:31156112-31156112
46	NF1	NM_000267.3(NF1):c.1224T>A (p.Tyr408Ter)	SNV	Pathogenic	485979	rs1555611089	17:29528467-29528467	17:31201449-31201449
47	NF1	NM_000267.3(NF1):c.1811T>A (p.Leu604Ter)	SNV	Pathogenic	484114	rs1555613427	17:29550551-29550551	17:31223533-31223533
48	PALB2	NM_024675.3(PALB2):c.2962_2963del (p.Gln988fs)	deletion	Pathogenic	480247	rs1555459528	16:23634323-23634324	16:23623002-23623003
49	NF1	NM_000267.3(NF1):c.2237del (p.Asn746fs)	deletion	Pathogenic	480107	rs1555613838	17:29553687-29553687	17:31226669-31226669
50	PALB2	NM_024675.3(PALB2):c.2938del (p.Ser980fs)	deletion	Pathogenic	486018	rs1555459540	16:23634348-23634348	16:23623027-23623027

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 top 50) (show all 51)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.83	TP53 CHEK2 CDKN2A CDK4 CDH1 BRCA1
2	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.83	TP53 FANCC DICER1 CHEK2 CDKN2A BRIP1
3	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	13.46	TP53 CHEK2 CDKN2A CDK4 BRIP1 BRCA2
4	DNA Double-Strand Break Repair ⁶⁵ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁵ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁵ G2/M DNA damage checkpoint ⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁵ HDR through MMEJ (alt-NHEJ) ⁶⁵ Homology Directed Repair ⁶⁵ Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶⁵	13.18	TP53 PALB2 FANCC CHEK2 BRIP1 BRCA2
5	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	13.01	TP53 FANCC CHEK2 CDKN2A BRIP1 BRCA1
6	TCR Signaling (Qiagen) ⁶³ Show member pathways Fc-EpsilonRI Pathway ⁶³ ITK and TCR Signaling ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.96	TP53 CHEK2 BRIP1 BRCA2 BRCA1 BARD1
7	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.9	TP53 CDKN2A CDK4 CDH1 BRCA2 APC
8	Deubiquitination ⁶⁵ Show member pathways Ub-specific processing proteases ⁶⁵	12.87	TP53 BRCA1 BARD1 BAP1 APC ABRAXAS1
9	Pathways in cancer ³⁶	12.87	TP53 FH CDKN2A CDK4 CDH1 BRCA2
10	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.8	TP53 CDKN2A CDK4 CDH1 BRCA2 BRCA1
11	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.76	TP53 FANCC CHEK2 CDK4 BRCA2 BRCA1
12	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.72	TP53 CDKN2A CDK4 CDH1 BRCA2 BRCA1
13	Cell Cycle Checkpoints ⁶⁵ Show member pathways G2/M Checkpoints ⁶⁵	12.67	TP53 CHEK2 BRIP1 BRCA1 BLM BARD1
14	MicroRNAs in cancer ³⁶	12.57	TP53 DICER1 CDKN2A BRCA1 ATM APC
15	Meiosis ⁶⁵ Show member pathways Meiotic recombination ⁶⁵ Meiotic synapsis ⁶⁵	12.54	CDK4 BRCA2 BRCA1 BLM ATM
16	DNA Damage ⁴	12.49	TP53 CHEK2 CDKN2A CDK4 BRIP1 BRCA2
17	Apoptosis Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ NF-kappaB Pathway ⁷⁰	12.43	TP53 CHEK2 BMPR1A ATM
18	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁶	12.43	TP53 CHEK2 CDKN2A CDK4 BRCA1 ATM
19	DNA Double Strand Break Response ⁶⁵ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁵ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁵ Sensing of DNA Double Strand Breaks ⁶⁵	12.43	TP53 CHEK2 BRCA1 BARD1 BAP1 ATM
20	WNT Signaling ⁶³	12.41	TP53 CDK4 CDH1 APC
21	Cell cycle ¹ ³⁶	12.41	TP53 CHEK2 CDKN2A CDK4 CDH1 ATM
22	Human T-cell leukemia virus 1 infection ³⁶	12.39	TP53 CHEK2 CDKN2A CDK4 ATM
23	Cyclins and Cell Cycle Regulation ⁶³ Show member pathways Cell Cycle Control by BTG Proteins ⁶³ Cyclin D associated events in G1 ⁶⁵ G1 Phase ⁶⁵ G1-S Phase Transition ⁶³ Phosphorylation of proteins involved in G1/S transition by active Cyclin E-Cdk2 complexes ⁶⁵	12.35	TP53 CDKN2A CDK4 ATM
24	Homologous DNA Pairing and Strand Exchange ⁶⁵ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁵ HDR through Single Strand Annealing (SSA) ⁶⁵ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁵	12.32	PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
25	p53 Signaling ⁶³ Show member pathways p53 Pathway ⁶⁶	12.29	TP53 CHEK2 CDK4 BRCA1 ATM
26	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
27	Cellular senescence (KEGG) ³⁶	12.21	TP53 CHEK2 CDKN2A CDK4 ATM
28	Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁵ Show member pathways Homologous recombination ¹ Homologous recombination ³⁶ Resolution of D-Loop Structures ⁶⁵ Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁵	12.1	PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
29	DNA Damage Response (only ATM dependent) ¹	12.03	TP53 CDKN2A ATM APC
30	Glioblastoma Multiforme ⁶³	12.01	TP53 CDKN2A CDK4 APC
31	Fanconi anemia pathway ³⁶ ⁶⁵	11.9	PALB2 FANCC BRIP1 BRCA2 BRCA1 BLM
32	ATM Pathway ⁶³ Show member pathways ATM Signaling Pathway ¹	11.89	TP53 CHEK2 BRCA1 ATM
33	Retinoblastoma (RB) in Cancer ¹	11.83	TP53 CDK4 BARD1
34	Regulation of TP53 Expression and Degradation ⁶⁵ Show member pathways Regulation of TP53 Degradation ⁶⁵ Regulation of TP53 Expression ⁶⁵	11.8	TP53 CHEK2 CDKN2A ATM
35	Platinum drug resistance ³⁶	11.8	TP53 CDKN2A BRCA1 ATM
36	Bladder cancer ³⁶ ¹	11.79	TP53 CDKN2A CDK4 CDH1
37	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.74	TP53 CHEK2 BRCA1 ATM
38	p53 pathway ¹	11.64	TP53 CHEK2 ATM
39	Cell cycle Role of 14-3-3 proteins in cell cycle regulation ²² Show member pathways 14-3-3 and Cell Cycle Regulation ⁶³	11.52	TP53 CHEK2 ATM
40	Integrated Breast Cancer Pathway ¹	11.51	TP53 CHEK2 CDK4 CDH1 BRCA2 BRCA1
41	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.48	TP53 FANCC CHEK2 BRCA2 BRCA1 BLM
42	Integrated Cancer Pathway ¹	11.46	TP53 CHEK2 CDK4 BRCA1 BLM BARD1
43	Metalloprotease DUBs ⁶⁵	11.44	BRCA1 BARD1 ABRAXAS1
44	FOXM1 transcription factor network ¹	11.43	CHEK2 CDK4 BRCA2
45	GADD45 Pathway ⁶³	11.37	TP53 CDK4 BRCA1 ATM
46	Oncogene Induced Senescence ⁶⁵	11.35	TP53 CDKN2A CDK4
47	DNA damage_ATM/ATR regulation of G1/S checkpoint ²²	11.34	TP53 CHEK2 CDK4 BRCA1 BLM BARD1
48	BARD1 signaling events ¹	11.29	TP53 FANCC BRCA1 BARD1 ATM
49	TP53 Network ¹ Show member pathways Activation, translocation and oligomerization of BAX ⁶⁵	11.18	TP53 CDKN2A ATM
50	DNA Damage Induced 14-3-3Sigma Signaling ⁶³	11.1	TP53 BRCA1 ATM

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	cytoplasm	GO:0005737	10.22	TP53 FH FANCC DICER1 CHEK2 CDKN2A
2	nucleus	GO:0005634	10.09	TP53 PALB2 FH FANCC DICER1 CHEK2
3	chromosome, telomeric region	GO:0000781	9.58	CHEK2 BLM ATM
4	nucleoplasm	GO:0005654	9.5	TP53 PALB2 FANCC CHEK2 CDKN2A CDK4
5	lateral element	GO:0000800	9.43	BRCA2 BRCA1 BLM
6	BRCA1-BARD1 complex	GO:0031436	9.37	BRCA1 BARD1
7	BRCA1-A complex	GO:0070531	9.13	BRCA1 BARD1 ABRAXAS1

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

(show all 39)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell cycle	GO:0007049	10.12	TP53 CHEK2 CDKN2A CDK4 BRCA2 BRCA1
2	negative regulation of cell proliferation	GO:0008285	10.06	TP53 CDKN2A BRIP1 BAP1 APC
3	positive regulation of transcription, DNA-templated	GO:0045893	10.06	TP53 CHEK2 CDKN2A CDH1 BRCA2 BRCA1
4	positive regulation of apoptotic process	GO:0043065	10.04	TP53 CDKN2A CDK4 BARD1 ATM APC
5	DNA replication	GO:0006260	9.95	BRIP1 BRCA1 BLM BARD1 ATM
6	protein deubiquitination	GO:0016579	9.95	TP53 BRCA1 BARD1 BAP1 APC ABRAXAS1
7	regulation of cell cycle	GO:0051726	9.93	TP53 CDK4 BAP1 ATM
8	cell cycle arrest	GO:0007050	9.91	TP53 CDKN2A BARD1 ATM APC
9	DNA recombination	GO:0006310	9.89	PALB2 BRCA2 BRCA1 BLM
10	double-strand break repair via nonhomologous end joining	GO:0006303	9.86	BRCA1 BARD1 ATM ABRAXAS1
11	multicellular organism growth	GO:0035264	9.85	TP53 PALB2 ATM
12	somitogenesis	GO:0001756	9.84	TP53 PALB2 BMPR1A ATM
13	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.83	CHEK2 BRCA2 BRCA1 ATM
14	double-strand break repair via homologous recombination	GO:0000724	9.83	PALB2 BRCA2 BRCA1 BLM ATM
15	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:0006977	9.82	TP53 CHEK2 ATM
16	response to ionizing radiation	GO:0010212	9.81	BRCA1 ATM ABRAXAS1
17	embryonic organ development	GO:0048568	9.8	TP53 PALB2 BMPR1A
18	nucleotide-excision repair	GO:0006289	9.8	TP53 FANCC BRIP1 BRCA2
19	DNA damage checkpoint	GO:0000077	9.79	CHEK2 BRIP1 ATM
20	cellular response to gamma radiation	GO:0071480	9.79	TP53 CHEK2 ATM
21	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	GO:0042771	9.78	TP53 CHEK2 BRCA2
22	response to gamma radiation	GO:0010332	9.77	TP53 CHEK2 BRCA2
23	response to X-ray	GO:0010165	9.76	TP53 BRCA2 BLM
24	double-strand break repair	GO:0006302	9.73	TP53 CHEK2 BRIP1 BRCA2 BRCA1 ABRAXAS1
25	DNA double-strand break processing	GO:0000729	9.71	BRCA1 BLM BARD1 ATM
26	regulation of signal transduction by p53 class mediator	GO:1901796	9.7	TP53 CHEK2 BRIP1 BRCA1 BLM BARD1
27	DNA repair	GO:0006281	9.7	PALB2 FH FANCC CHEK2 BRIP1 BRCA2
28	inner cell mass cell proliferation	GO:0001833	9.68	PALB2 BRCA2
29	regulation of cellular senescence	GO:2000772	9.68	TP53 BMPR1A
30	signal transduction involved in G2 DNA damage checkpoint	GO:0072425	9.67	BRCA1 ABRAXAS1
31	replication fork protection	GO:0048478	9.67	BRCA2 BLM
32	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	9.67	TP53 CHEK2 BRCA2 BRCA1
33	protein K6-linked ubiquitination	GO:0085020	9.66	BRCA1 BARD1
34	DNA damage induced protein phosphorylation	GO:0006975	9.65	CHEK2 ATM
35	DNA strand renaturation	GO:0000733	9.65	TP53 BLM
36	cellular response to indole-3-methanol	GO:0071681	9.64	CDH1 BRCA1
37	chordate embryonic development	GO:0043009	9.63	BRCA2 BRCA1
38	replicative senescence	GO:0090399	9.62	TP53 CHEK2 CDKN2A ATM
39	cellular response to DNA damage stimulus	GO:0006974	9.44	TP53 PALB2 FH FANCC CHEK2 BRIP1

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	9.97	TP53 PALB2 DICER1 CDKN2A BRIP1 BRCA2
2	ATP binding	GO:0005524	9.86	TP53 DICER1 CHEK2 CDK4 BRIP1 BMPR1A
3	protein homodimerization activity	GO:0042803	9.7	TP53 EXT2 CHEK2 CDH1 BMPR1A BLM
4	protein binding	GO:0005515	9.62	TP53 PALB2 FH FANCC EXT2 DICER1
5	nucleotide binding	GO:0000166	9.43	DICER1 CHEK2 CDK4 BRIP1 BLM ATM
6	gamma-catenin binding	GO:0045295	9.4	CDH1 APC
7	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	9.37	BRIP1 BLM

Sources

Sources for Inherited Cancer-Predisposing Syndrome

¹ BioSystems

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⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia