Bap1 Tumor Predisposition Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BP1002 MIFTS: 35	Bap1 Tumor Predisposition Syndrome Categories: Rare diseases, Immune diseases, Skin diseases, Cancer diseases
Genes Variations Tissues Related diseases Publications Pathways Download Expand all tables

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Aliases & Classifications for Bap1 Tumor Predisposition Syndrome

MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:

Name: Bap1 Tumor Predisposition Syndrome ²⁴ ⁵³ ²⁵

Tumor Susceptibility Linked to Germline Bap1 Mutations ⁵³ ²⁹ ⁶

Bap1-Related Tumor Predisposition Syndrome ⁵³ ²⁵

Tumor Predisposition Syndrome ⁵³ ⁷³

Bap1 Cancer Syndrome ²⁴ ⁶

Common Syndrome ²⁴ ²⁵

Bap1-Tpds ²⁴ ²⁵

Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms ²⁵

Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations,other Internal Neoplasms ²⁴

Characteristics:

GeneReviews:

²⁴

Penetrance The penetrance of the bap1-tpds appears to be high based on the published literature. in their review rai et al [2016] found that 148/174 (85%) individuals reported with a heterozygous germline bap1 pathogenic variant had a cancer diagnosis. however, ascertainment biases in favor of both testing and reporting affected versus unaffected individuals may have inflated this figure. for example, in more than half of the reported families only the proband had been tested. given these biases, an accurate estimate of penetrance cannot be determined at this time...

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Immune diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Common variable immunodeficiency

Common variable immunodeficiency, unspecified

External Ids:

ICD10 ³³ D83.9

UMLS ⁷³ C3280492

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Summaries for Bap1 Tumor Predisposition Syndrome

Genetics Home Reference : ²⁵ BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.

MalaCards based summary : Bap1 Tumor Predisposition Syndrome, also known as tumor susceptibility linked to germline bap1 mutations, is related to skin melanoma and tumor predisposition syndrome. An important gene associated with Bap1 Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include skin, kidney and eye, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

GeneReviews: NBK390611

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Related Diseases for Bap1 Tumor Predisposition Syndrome

Diseases related to Bap1 Tumor Predisposition Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)

#	Related Disease	Score	Top Affiliating Genes
1	skin melanoma	28.7	BAP1 PMS2
2	tumor predisposition syndrome	27.0	BAP1 BRCA2 MRE11 PALB2 PMS2
3	pendred syndrome	10.4
4	ocular melanoma	10.0	BAP1 BRCA2
5	peritoneum cancer	9.9	BAP1 BRCA2
6	neurofibrosarcoma	9.9
7	malignant peripheral nerve sheath tumor	9.9
8	neurofibroma	9.9
9	tracheoesophageal fistula with or without esophageal atresia	9.9	BRCA2 PALB2
10	melanoma	9.8
11	ocular cancer	9.8	BAP1 BRCA2
12	female breast cancer	9.8	BRCA2 PALB2
13	tracheoesophageal fistula	9.8	BRCA2 PALB2
14	pancreas adenocarcinoma	9.6	BRCA2 PALB2
15	breast giant fibroadenoma	9.5	BRCA2 PMS2
16	lynch syndrome i	9.5	BRCA2 PMS2
17	hereditary breast ovarian cancer syndrome	9.3	BRCA2 MRE11 PALB2
18	female reproductive organ cancer	9.3	BRCA2 PMS2
19	fanconi anemia, complementation group a	9.3	BRCA2 MRE11 PALB2
20	hernia, hiatus	9.3
21	epilepsy, idiopathic generalized	9.3
22	orthostatic intolerance	9.3
23	esophagitis	9.3
24	megaloblastic anemia	9.3
25	peptic esophagitis	9.3
26	epilepsy	9.3
27	central nervous system disease	9.3
28	nervous system disease	9.3
29	croup	9.3
30	lynch syndrome	8.9	BRCA2 PMS2

Graphical network of the top 20 diseases related to Bap1 Tumor Predisposition Syndrome:

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Symptoms & Phenotypes for Bap1 Tumor Predisposition Syndrome

GenomeRNAi Phenotypes related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased homologous recombination repair frequency	GR00236-A-1	9.43	BRCA2 PALB2
2	Decreased homologous recombination repair frequency	GR00236-A-2	9.43	BRCA2 PALB2
3	Decreased homologous recombination repair frequency	GR00236-A-3	9.43	BRCA2 PALB2
4	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.02	BAP1 BRCA2 MRE11 PALB2 PMS2

MGI Mouse Phenotypes related to Bap1 Tumor Predisposition Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.72	BAP1 BRCA2 MRE11 PALB2 PMS2
2	embryo	MP:0005380	9.56	BAP1 BRCA2 MRE11 PALB2
3	mortality/aging	MP:0010768	9.55	BAP1 BRCA2 MRE11 PALB2 PMS2
4	neoplasm	MP:0002006	9.35	BAP1 BRCA2 MRE11 PALB2 PMS2
5	reproductive system	MP:0005389	8.92	BAP1 BRCA2 MRE11 PMS2

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Drugs & Therapeutics for Bap1 Tumor Predisposition Syndrome

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Tumor and Development (TED)	Recruiting	NCT01915797
2	Familial Investigations of Childhood Cancer Predisposition	Recruiting	NCT03050268

Search NIH Clinical Center for Bap1 Tumor Predisposition Syndrome

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Genetic Tests for Bap1 Tumor Predisposition Syndrome

Genetic tests related to Bap1 Tumor Predisposition Syndrome:

#	Genetic test	Affiliating Genes
1	Tumor Susceptibility Linked to Germline Bap1 Mutations ²⁹	BAP1

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Anatomical Context for Bap1 Tumor Predisposition Syndrome

MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:

⁴¹

Skin, Kidney, Eye, Testes

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Publications for Bap1 Tumor Predisposition Syndrome

Articles related to Bap1 Tumor Predisposition Syndrome:

#	Title	Authors	Year
1	Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. ( 29061454 )	Kaszuba M.C....Spinner R.J.	2018
2	Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )	Rai K....Abdel-Rahman M.H.	2015
3	The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )	Battaglia A.	2014
4	BAP1 Tumor Predisposition Syndrome ( 27748099 )	Pagon R.A....Stephens K.	1993

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Genes for Bap1 Tumor Predisposition Syndrome

Genes related to Bap1 Tumor Predisposition Syndrome (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	BAP1	BRCA1 Associated Protein 1	Protein Coding	517.59	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
2	PALB2	Partner And Localizer Of BRCA2	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
3	BRCA2	BRCA2, DNA Repair Associated	Protein Coding	400	Pathogenic ⁶
4	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	400	Pathogenic ⁶
5	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	25	Pathogenic/Likely pathogenic ⁶

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Variations for Bap1 Tumor Predisposition Syndrome

ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:

⁶

(show top 50) (show all 611)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BAP1	NM_004656.3(BAP1): c.1305delG (p.Gln436Asnfs)	deletion	Pathogenic	rs587776877	GRCh37	Chromosome 3, 52437856: 52437856
2	BAP1	NM_004656.3(BAP1): c.1305delG (p.Gln436Asnfs)	deletion	Pathogenic	rs587776877	GRCh38	Chromosome 3, 52403840: 52403840
3	BAP1	NM_004656.3(BAP1): c.2057-2A> G	single nucleotide variant	Pathogenic	rs587776878	GRCh37	Chromosome 3, 52436439: 52436439
4	BAP1	NM_004656.3(BAP1): c.2057-2A> G	single nucleotide variant	Pathogenic	rs587776878	GRCh38	Chromosome 3, 52402423: 52402423
5	BAP1	NM_004656.3(BAP1): c.438-2A> G	single nucleotide variant	Pathogenic	rs587776879	GRCh37	Chromosome 3, 52441334: 52441334
6	BAP1	NM_004656.3(BAP1): c.438-2A> G	single nucleotide variant	Pathogenic	rs587776879	GRCh38	Chromosome 3, 52407318: 52407318
7	BAP1	NM_004656.3(BAP1): c.2050C> T (p.Gln684Ter)	single nucleotide variant	Pathogenic	rs387906848	GRCh37	Chromosome 3, 52436624: 52436624
8	BAP1	NM_004656.3(BAP1): c.2050C> T (p.Gln684Ter)	single nucleotide variant	Pathogenic	rs387906848	GRCh38	Chromosome 3, 52402608: 52402608
9	BAP1	BAP1, 1-BP DEL, 1832C	deletion	Pathogenic
10	BAP1	BAP1, 4-BP DEL, 2008TCAC	deletion	Pathogenic
11	BAP1	NM_004656.3(BAP1): c.799C> T (p.Gln267Ter)	single nucleotide variant	Pathogenic	rs387906849	GRCh37	Chromosome 3, 52439913: 52439913
12	BAP1	NM_004656.3(BAP1): c.799C> T (p.Gln267Ter)	single nucleotide variant	Pathogenic	rs387906849	GRCh38	Chromosome 3, 52405897: 52405897
13	BRCA2	NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)	deletion	Pathogenic	rs80359406	GRCh37	Chromosome 13, 32912352: 32912352
14	BRCA2	NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)	deletion	Pathogenic	rs80359406	GRCh38	Chromosome 13, 32338215: 32338215
15	BRCA2	NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)	indel	Pathogenic	rs276174859	GRCh37	Chromosome 13, 32914101: 32914102
16	BRCA2	NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)	indel	Pathogenic	rs276174859	GRCh38	Chromosome 13, 32339964: 32339965
17	BAP1	NM_004656.3(BAP1): c.78_79delGG (p.Val27Alafs)	deletion	Pathogenic	rs397509413	GRCh37	Chromosome 3, 52443613: 52443614
18	BAP1	NM_004656.3(BAP1): c.78_79delGG (p.Val27Alafs)	deletion	Pathogenic	rs397509413	GRCh38	Chromosome 3, 52409597: 52409598
19	BAP1	NM_004656.3(BAP1): c.277A> G (p.Thr93Ala)	single nucleotide variant	Pathogenic	rs375129361	GRCh37	Chromosome 3, 52442072: 52442072
20	BAP1	NM_004656.3(BAP1): c.277A> G (p.Thr93Ala)	single nucleotide variant	Pathogenic	rs375129361	GRCh38	Chromosome 3, 52408056: 52408056
21	BAP1	NM_004656.3(BAP1): c.1654delG (p.Asp552Ilefs)	deletion	Pathogenic	rs397509414	GRCh37	Chromosome 3, 52437507: 52437507
22	BAP1	NM_004656.3(BAP1): c.1654delG (p.Asp552Ilefs)	deletion	Pathogenic	rs397509414	GRCh38	Chromosome 3, 52403491: 52403491
23	MRE11	NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs)	duplication	Pathogenic/Likely pathogenic	rs587781442	GRCh37	Chromosome 11, 94169013: 94169032
24	MRE11	NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs)	duplication	Pathogenic/Likely pathogenic	rs587781442	GRCh38	Chromosome 11, 94435847: 94435866
25	PALB2	NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs)	deletion	Pathogenic/Likely pathogenic	rs587782443	GRCh37	Chromosome 16, 23647641: 23647641
26	PALB2	NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs)	deletion	Pathogenic/Likely pathogenic	rs587782443	GRCh38	Chromosome 16, 23636320: 23636320
27	PALB2	NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs)	duplication	Pathogenic	rs587782570	GRCh37	Chromosome 16, 23634355: 23634355
28	PALB2	NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs)	duplication	Pathogenic	rs587782570	GRCh38	Chromosome 16, 23623034: 23623034
29	PMS2	NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs)	deletion	Pathogenic	rs587782710	GRCh37	Chromosome 7, 6037007: 6037014
30	PMS2	NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs)	deletion	Pathogenic	rs587782710	GRCh38	Chromosome 7, 5997376: 5997383
31	PTEN	NM_000314.6(PTEN): c.527A> G (p.Tyr176Cys)	single nucleotide variant	Uncertain significance	rs757498880	GRCh37	Chromosome 10, 89711909: 89711909
32	PTEN	NM_000314.6(PTEN): c.527A> G (p.Tyr176Cys)	single nucleotide variant	Uncertain significance	rs757498880	GRCh38	Chromosome 10, 87952152: 87952152
33	NF1	NM_001042492.2(NF1): c.1810T> C (p.Leu604=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142712751	GRCh37	Chromosome 17, 29550550: 29550550
34	NF1	NM_001042492.2(NF1): c.1810T> C (p.Leu604=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142712751	GRCh38	Chromosome 17, 31223532: 31223532
35	BAP1	NM_004656.3(BAP1): c.1026C> T (p.Ser342=)	single nucleotide variant	Benign/Likely benign	rs71651686	GRCh37	Chromosome 3, 52439216: 52439216
36	BAP1	NM_004656.3(BAP1): c.1026C> T (p.Ser342=)	single nucleotide variant	Benign/Likely benign	rs71651686	GRCh38	Chromosome 3, 52405200: 52405200
37	BAP1	NM_004656.3(BAP1): c.1002A> G (p.Leu334=)	single nucleotide variant	Benign/Likely benign	rs28997577	GRCh37	Chromosome 3, 52439240: 52439240
38	BAP1	NM_004656.3(BAP1): c.1002A> G (p.Leu334=)	single nucleotide variant	Benign/Likely benign	rs28997577	GRCh38	Chromosome 3, 52405224: 52405224
39	BAP1	NM_004656.3(BAP1): c.778C> T (p.Gln260Ter)	single nucleotide variant	Pathogenic	rs864622592	GRCh37	Chromosome 3, 52440274: 52440274
40	BAP1	NM_004656.3(BAP1): c.778C> T (p.Gln260Ter)	single nucleotide variant	Pathogenic	rs864622592	GRCh38	Chromosome 3, 52406258: 52406258
41	BAP1	NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs)	deletion	Pathogenic	rs869025212	GRCh37	Chromosome 3, 52437444: 52437444
42	BAP1	NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs)	deletion	Pathogenic	rs869025212	GRCh38	Chromosome 3, 52403428: 52403428
43	BAP1	NM_004656.3(BAP1): c.2091C> T (p.Ser697=)	single nucleotide variant	Likely benign	rs754513396	GRCh38	Chromosome 3, 52402387: 52402387
44	BAP1	NM_004656.3(BAP1): c.2091C> T (p.Ser697=)	single nucleotide variant	Likely benign	rs754513396	GRCh37	Chromosome 3, 52436403: 52436403
45	BAP1	NM_004656.3(BAP1): c.2057-4G> T	single nucleotide variant	Benign/Likely benign	rs149499021	GRCh37	Chromosome 3, 52436441: 52436441
46	BAP1	NM_004656.3(BAP1): c.2057-4G> T	single nucleotide variant	Benign/Likely benign	rs149499021	GRCh38	Chromosome 3, 52402425: 52402425
47	BAP1	NM_004656.3(BAP1): c.1962A> C (p.Val654=)	single nucleotide variant	Benign/Likely benign	rs148624125	GRCh37	Chromosome 3, 52436816: 52436816
48	BAP1	NM_004656.3(BAP1): c.1962A> C (p.Val654=)	single nucleotide variant	Benign/Likely benign	rs148624125	GRCh38	Chromosome 3, 52402800: 52402800
49	BAP1	NM_004656.3(BAP1): c.1946G> A (p.Cys649Tyr)	single nucleotide variant	Uncertain significance	rs151308667	GRCh37	Chromosome 3, 52436832: 52436832
50	BAP1	NM_004656.3(BAP1): c.1946G> A (p.Cys649Tyr)	single nucleotide variant	Uncertain significance	rs151308667	GRCh38	Chromosome 3, 52402816: 52402816

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Expression for Bap1 Tumor Predisposition Syndrome

Search GEO for disease gene expression data for Bap1 Tumor Predisposition Syndrome.

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Pathways for Bap1 Tumor Predisposition Syndrome

Pathways related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	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	12.03	BAP1 BRCA2 MRE11 PALB2 PMS2
2	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	11.73	BRCA2 MRE11 PALB2
3	Integrated Breast Cancer Pathway ¹	11.56	BRCA2 MRE11
4	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁶ Show member pathways Homologous recombination ³⁷ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁶ Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁶	11.51	BRCA2 MRE11 PALB2
5	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.24	BRCA2 MRE11
6	Fanconi anemia pathway ⁶⁶ ³⁷	11.1	BRCA2 PALB2 PMS2

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GO Terms for Bap1 Tumor Predisposition Syndrome

Cellular components related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	9.02	BAP1 BRCA2 MRE11 PALB2 PMS2
2	nuclear chromosome, telomeric region	GO:0000784	8.96	BRCA2 MRE11

Biological processes related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to DNA damage stimulus	GO:0006974	9.62	BRCA2 MRE11 PALB2 PMS2
2	DNA recombination	GO:0006310	9.54	BRCA2 MRE11 PALB2
3	nucleic acid phosphodiester bond hydrolysis	GO:0090305	9.48	MRE11 PMS2
4	double-strand break repair	GO:0006302	9.46	BRCA2 MRE11
5	DNA repair	GO:0006281	9.46	BRCA2 MRE11 PALB2 PMS2
6	chromosome organization	GO:0051276	9.43	BRCA2 MRE11
7	double-strand break repair via homologous recombination	GO:0000724	9.43	BRCA2 MRE11 PALB2
8	inner cell mass cell proliferation	GO:0001833	9.4	BRCA2 PALB2
9	DNA synthesis involved in DNA repair	GO:0000731	9.13	BRCA2 MRE11 PALB2
10	strand displacement	GO:0000732	8.8	BRCA2 MRE11 PALB2

Molecular functions related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	9.56	BRCA2 MRE11 PALB2 PMS2
2	nuclease activity	GO:0004518	9.16	MRE11 PMS2
3	single-stranded DNA binding	GO:0003697	8.96	BRCA2 PMS2
4	endonuclease activity	GO:0004519	8.62	MRE11 PMS2

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Sources for Bap1 Tumor Predisposition Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁶ ClinVar

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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

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³³ ICD10

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⁴¹ MalaCards

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

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⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia