Comedo Carcinoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CMD001 MIFTS: 33	Comedo Carcinoma Categories: Cancer diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Comedo Carcinoma

MalaCards integrated aliases for Comedo Carcinoma:

Name: Comedo Carcinoma ¹² ¹⁵

Comedocarcinoma ¹² ⁷⁴

High Grade Ductal Breast Carcinoma in Situ ⁷⁴

Classifications:

MalaCards categories:
Global: Cancer diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:5670

NCIt ⁵¹ C4188

SNOMED-CT ⁶⁹ 36425007

UMLS ⁷⁴ C0334370 C1334002

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Summaries for Comedo Carcinoma

Disease Ontology : ¹² A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.

MalaCards based summary : Comedo Carcinoma, also known as comedocarcinoma, is related to in situ carcinoma and adenocarcinoma. An important gene associated with Comedo Carcinoma is ERBB2 (Erb-B2 Receptor Tyrosine Kinase 2), and among its related pathways/superpathways are Signaling by ERBB4 and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. The drugs Tamoxifen and Estrogen Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and prostate, and related phenotypes are shRNA abundance <= 50% and behavior/neurological

Wikipedia : ⁷⁷ Comedocarcinoma is one kind of breast cancer which is most commonly very early-stage which demonstrates... more...

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Related Diseases for Comedo Carcinoma

Diseases related to Comedo Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)

#	Related Disease	Score	Top Affiliating Genes
1	in situ carcinoma	29.9	ERBB2 ESR1
2	adenocarcinoma	10.1
3	leigh syndrome with leukodystrophy	10.0	NDUFS3 NDUFS4
4	glassy cell carcinoma of the cervix	10.0	ERBB2 ESR1
5	breast medullary carcinoma	10.0	ERBB2 ESR1
6	breast scirrhous carcinoma	10.0	ERBB2 ESR1
7	progesterone-receptor positive breast cancer	10.0	ERBB2 ESR1
8	apocrine adenocarcinoma	10.0	ERBB2 ESR1
9	breast adenoid cystic carcinoma	10.0	ERBB2 ESR1
10	inflammatory breast carcinoma	10.0	ERBB2 ESR1
11	luminal breast carcinoma	10.0	ERBB2 ESR1
12	lobular neoplasia	10.0	ERBB2 ESR1
13	breast benign neoplasm	10.0	ERBB2 ESR1
14	thoracic benign neoplasm	10.0	ERBB2 ESR1
15	uterine corpus cancer	10.0	ERBB2 ESR1
16	lipid-rich carcinoma	10.0	ERBB2 ESR1
17	hidradenocarcinoma	10.0	ERBB2 ESR1
18	mammary paget's disease	10.0	ERBB2 ESR1
19	tubular adenocarcinoma	9.9	ERBB2 ESR1
20	pre-malignant neoplasm	9.9	ERBB2 ESR1
21	fallopian tube carcinoma	9.9	ERBB2 ESR1
22	estrogen-receptor negative breast cancer	9.9	ERBB2 ESR1
23	breast fibroadenoma	9.9	ERBB2 ESR1
24	breast carcinoma in situ	9.9	ERBB2 ESR1
25	malignant ovarian surface epithelial-stromal neoplasm	9.9	ERBB2 ESR1
26	ovary epithelial cancer	9.9	ERBB2 ESR1
27	female breast cancer	9.9	ERBB2 ESR1
28	cervical adenocarcinoma	9.9	ERBB2 ESR1
29	estrogen-receptor positive breast cancer	9.9	ERBB2 ESR1
30	sweat gland cancer	9.9	ERBB2 ESR1
31	uterine anomalies	9.9	ERBB2 ESR1
32	sporadic breast cancer	9.9	ERBB2 ESR1
33	ductal carcinoma in situ	9.9	ERBB2 ESR1
34	female reproductive system disease	9.8	ERBB2 ESR1
35	reproductive system disease	9.8	ERBB2 ESR1
36	gonadal disease	9.8	ERBB2 ESR1
37	endometrial adenocarcinoma	9.8	ERBB2 ESR1
38	breast ductal carcinoma	9.7	ERBB2 ESR1
39	endocrine gland cancer	9.7	ERBB2 ESR1
40	breast adenocarcinoma	9.6	ERBB2 ESR1

Graphical network of the top 20 diseases related to Comedo Carcinoma:

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Symptoms & Phenotypes for Comedo Carcinoma

GenomeRNAi Phenotypes related to Comedo Carcinoma according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	shRNA abundance <= 50%	GR00343-S	9.02	ERBB2 ESR1 HNRNPA1 NDUFS3 NDUFS4

MGI Mouse Phenotypes related to Comedo Carcinoma:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.02	ERBB2 ESR1 HNMT NDUFS3 NDUFS4

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Drugs & Therapeutics for Comedo Carcinoma

Drugs for Comedo Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Tamoxifen

Approved

Phase 3

10540-29-1

2733526

Synonyms:

(Z)-1-(p-Dimethylaminoethoxyphenyl)-1,2-diphenyl-1-butene

(Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine

(Z)-2-(4-(1,2-diphenylbut-1-enyl)phenoxy)-N,N-dimethylethanamine

(Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine

(Z)-2-(Para-(1,2-diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine

(Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine (IUPAC)

(Z)-2-[4-(1,2)-DIPHENYL-1-BUTENYL)-PHENOXY]-N,N-DIMETHYLETHANAMINE

(Z)-2-[p-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine

,citrate

10540-29-1

1-p-.beta.-Dimethylamino-ethoxyphenyl-trans-1,2-diphenylbut-1-ene

1-Para-b-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene

1-para-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene

1-Para-beta-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene

1-Para-β-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene

1-P-b-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene

1-p-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene

1-P-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene

1-P-β-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene

1ya4

2-[4-[(Z)-1,2-diphenylbut-1-enyl]phenoxy]-N,N-dimethylethanamine

2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}-N,N-dimethylethanamine

54965-24-1 (citrate)

AC1MBZ3R

apo-Tamox

Apo-Tamox

BIDD:ER0008

BIDD:GT0009

BIDD:PXR0003

BPBio1_000278

BRD-K93754473-001-02-9

BRD-K93754473-048-05-3

BSPBio_000252

BSPBio_001150

BSPBio_001982

C07108

C26H29NO

CCRIS 3275

CHEBI:41774

CHEMBL83

CID2733526

Citofen

Citrate, tamoxifen

cMAP_000044

Crisafeno

D08559

DB00675

Diemon

EINECS 234-118-0

Gen-tamoxifen

Gen-Tamoxifen

HMS1362J11

HMS1792J11

HMS1990J11

HMS2090N08

HSDB 6782

ICI 47699

ICI-46,474

ICI-47699

IDI1_000258

IDI1_002170

Istubol

Kessar

L024126

Lopac0_001203

LS-393

MLS001332535

MLS001332536

MolPort-003-850-384

NCGC00024928-01

NCGC00024928-03

NCGC00024928-04

NCGC00024928-05

NCGC00024928-07

NCGC00024928-08

NCGC00024928-09

NCGC00024928-12

nchembio.140-comp7

nchembio.76-comp1

nchembio732-comp3

Noltam

Nolvadex

Nolvadex-D

Nourytam

Novaldex

Novo-Tamoxifen

NSC727681

Oncomox

Pms-Tamoxifen

PMS-Tamoxifen

Prestwick2_000146

Prestwick3_000146

QTL1_000079

Retaxim

Savient brand OF tamoxifen citrate

SMR000059172

Soltamox

Spectrum5_001417

Spectrum5_002043

ST50511785

T5648_SIGMA

Tamizam

Tamofen

Tamone

Tamoplex (TN)

Tamoxasta

Tamoxen

tamoxifen

Tamoxifen

Tamoxifen (INN)

TAMOXIFEN (TAMOXIFEN CITRATE (54965-24-1))

Tamoxifen (TN)

Tamoxifen (Z)

Tamoxifen [INN:BAN]

Tamoxifen and its salts

Tamoxifen citrate

Tamoxifen Citrate

Tamoxifene

Tamoxifène

Tamoxifene [INN-French]

Tamoxifeno

Tamoxifeno [INN-Spanish]

Tamoxifenum

Tamoxifenum [INN-Latin]

Tocris-0999

Tomaxithen

TRANS FORM OF TAMOXIFEN

trans-2-[4-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine

trans-Tamoxifen

Trans-Tamoxifen

UNII-094ZI81Y45

UPCMLD-DP027

Valodex

Zemide

Zitazonium

Estrogen Receptor Antagonists

Phase 3

Hormones

Phase 3

Hormone Antagonists

Phase 3

Antineoplastic Agents, Hormonal

Phase 3

Estrogens

Phase 3

Bone Density Conservation Agents

Phase 3

Selective Estrogen Receptor Modulators

Phase 3

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 3

Estrogen Antagonists

Phase 3

Estrogen Receptor Modulators

Phase 3

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Trial of Low Dose Tamoxifen in Women With Breast Intraepithelial Neoplasia	Active, not recruiting	NCT01357772	Phase 3	Tamoxifen;placebo
2	Energy Balance and Breast Cancer Aspects-II	Recruiting	NCT02240836	Not Applicable

Search NIH Clinical Center for Comedo Carcinoma

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Genetic Tests for Comedo Carcinoma

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Anatomical Context for Comedo Carcinoma

MalaCards organs/tissues related to Comedo Carcinoma:

⁴²

Breast, Bone, Prostate, Ovary, Cervix

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Publications for Comedo Carcinoma

Articles related to Comedo Carcinoma:

#	Title	Authors	Year
1	Surface topography and ultrastructure correlation between human breast infiltrating ductal carcinoma of non special type and coexisting human breast infiltrating ductal carcinoma of non special type with in situ comedo carcinoma. ( 17472243 )	Voloudakis GE...Voloudakis-Baltatzis IE	2003
2	Ultrastructure of the periductal area of comedo carcinoma in situ of the breast. ( 11508833 )	Tang P...Hajdu SI	2001
3	Radiological case of the month. Comedocarcinoma. ( 1655694 )	Harshfield DL...Nokes SR	1991
4	Prostatic comedocarcinoma: correlation of sonograms with pathologic specimens in three cases. ( 2164763 )	Lile R...Crawford ED	1990
5	Flow cytometric analysis of comedocarcinoma of the prostate: an uncommon histopathological variant of prostatic adenocarcinoma. ( 2837590 )	Currin SM...Walther PJ	1988
6	Comedocarcinoma as symmetrical cuirass cancer in the mammary glands of a female boxer. ( 6100420 )	Sch?nbauer M...Dreier HK	1984
7	Electron microscope observation of viruslike particles in comedocarcinoma of the human breast. ( 4356479 )	Seman G...Dmochowski L	1973
8	COMEDOCARCINOMA of the breast. ( 13316747 )		1956
9	Comedocarcinoma of the breast. ( 14373381 )	STAPLEY LA...HARRINGTON SW	1955

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Genes for Comedo Carcinoma

Genes related to Comedo Carcinoma (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	15.2	DISEASES inferred ¹⁵
2	HNMT	Histamine N-Methyltransferase	Protein Coding	14.52	DISEASES inferred ¹⁵
3	HNRNPA1	Heterogeneous Nuclear Ribonucleoprotein A1	Protein Coding	14.25	DISEASES inferred ¹⁵
4	NDUFS3	NADH:Ubiquinone Oxidoreductase Core Subunit S3	Protein Coding	14.17	DISEASES inferred ¹⁵
5	ESR1	Estrogen Receptor 1	Protein Coding	14.02	DISEASES inferred ¹⁵
6	NDUFS4	NADH:Ubiquinone Oxidoreductase Subunit S4	Protein Coding	13.95	DISEASES inferred ¹⁵

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Variations for Comedo Carcinoma

Cosmic variations for Comedo Carcinoma:

⁹ (show all 44)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location
1	COSM6005476	ZFHX3	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.2403A>T	p.K801N	16:72957743-72957743
2	COSM43559	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.517G>T	p.V173L	17:7675095-7675095
3	COSM10662	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.743G>A	p.R248Q	17:7674220-7674220
4	COSM10701	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.824G>T	p.C275F	17:7673796-7673796
5	COSM10656	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.742C>T	p.R248W	17:7674221-7674221
6	COSM10867	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.797G>A	p.G266E	17:7673823-7673823
7	COSM44415	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.711G>C	p.M237I	17:7674252-7674252
8	COSM44737	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.860A>G	p.E287G	17:7673760-7673760
9	COSM6932	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.733G>A	p.G245S	17:7674230-7674230
10	COSM10779	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.818G>T	p.R273L	17:7673802-7673802
11	COSM43714	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.836G>A	p.G279E	17:7673784-7673784
12	COSM44901	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.532C>G	p.H178D	17:7675080-7675080
13	COSM10660	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.818G>A	p.R273H	17:7673802-7673802
14	COSM43814	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.587G>C	p.R196P	17:7674944-7674944
15	COSM11089	TP53	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.584T>C	p.I195T	17:7674947-7674947
16	COSM6906973	SMARCA4	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.1111G>T	p.E371*	19:10987917-10987917
17	COSM6906974	PPP2R1A	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.510C>A	p.F170L	19:52212692-52212692
18	COSM12458	PIK3CA	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.1634A>C	p.E545A	3:179218304-179218304
19	COSM775	PIK3CA	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.3140A>G	p.H1047R	3:179234297-179234297
20	COSM776	PIK3CA	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.3140A>T	p.H1047L	3:179234297-179234297
21	COSM760	PIK3CA	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.1624G>A	p.E542K	3:179218294-179218294
22	COSM763	PIK3CA	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.1633G>A	p.E545K	3:179218303-179218303
23	COSM774	PIK3CA	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.3139C>T	p.H1047Y	3:179234296-179234296
24	COSM754	PIK3CA	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.1035T>A	p.N345K	3:179203765-179203765
25	COSM580	NRAS	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.181C>A	p.Q61K	1:114713909-114713909
26	COSM565	NRAS	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.35G>C	p.G12A	1:114716126-114716126
27	COSM6057047	NOTCH1	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.7372C>T	p.P2458S	9:136496367-136496367
28	COSM6005481	MAP2K2	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.931G>T	p.D311Y	19:4097332-4097332
29	COSM521	KRAS	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.35G>A	p.G12D	12:25245350-25245350
30	COSM516	KRAS	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.34G>T	p.G12C	12:25245351-25245351
31	COSM532	KRAS	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.38G>A	p.G13D	12:25245347-25245347
32	COSM520	KRAS	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.35G>T	p.G12V	12:25245350-25245350
33	COSM1179671	KMT2C	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.925C>T	p.P309S	7:152273792-152273792
34	COSM4595028	KMT2C	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.2681G>A	p.R894Q	7:152235905-152235905
35	COSM6057048	HRAS	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.148A>G	p.T50A	11:533908-533908
36	COSM6906971	H3F3A	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.218G>A	p.R73Q	1:226065745-226065745
37	COSM48358	ERBB2	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.929C>T	p.S310F	17:39711955-39711955
38	COSM14060	ERBB2	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.2264T>C	p.L755S	17:39723967-39723967
39	COSM19786	CDH1	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.779C>T	p.P260L	16:68810288-68810288
40	COSM6057049	AKT1	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.61A>G	p.T21A	14:104780202-104780202
41	COSM33765	AKT1	breast,NS,carcinoma in situ,ductal carcinoma in situ	c.49G>A	p.E17K	14:104780214-104780214
42	COSM5174142		breast,NS,carcinoma in situ,ductal carcinoma in situ	c.884C>T	p.S295F	17:39711955-39711955
43	COSM6906972		breast,NS,carcinoma in situ,ductal carcinoma in situ	c.1111G>T	p.E371*	19:10987917-10987917
44	COSM6964823		breast,NS,carcinoma in situ,ductal carcinoma in situ	c.659C>T	p.T220M	1:39897898-39897898

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Expression for Comedo Carcinoma

Search GEO for disease gene expression data for Comedo Carcinoma.

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Pathways for Comedo Carcinoma

Pathways related to Comedo Carcinoma according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by ERBB4 ⁶⁷ Show member pathways Downregulation of ERBB4 signaling ⁶⁷ ErbB4 signaling events ¹ Nuclear signaling by ERBB4 ⁶⁷	10.99	ERBB2 ESR1
2	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors ⁶⁷ Show member pathways Activation of the TFAP2 (AP-2) family of transcription factors ⁶⁷ Negative regulation of activity of TFAP2 (AP-2) family transcription factors ⁶⁷ TFAP2 (AP-2) family regulates transcription of cell cycle factors ⁶⁷ TFAP2 (AP-2) family regulates transcription of growth factors and their receptors ⁶⁷ TFAP2 (AP-2) family regulates transcription of other transcription factors ⁶⁷ TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation ⁶⁷	10.59	ERBB2 ESR1

Sources

GO Terms for Comedo Carcinoma

Cellular components related to Comedo Carcinoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	respiratory chain	GO:0070469	8.96	NDUFS3 NDUFS4
2	mitochondrial respiratory chain complex I	GO:0005747	8.62	NDUFS3 NDUFS4

Biological processes related to Comedo Carcinoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial respiratory chain complex I assembly	GO:0032981	9.26	NDUFS3 NDUFS4
2	positive regulation of fibroblast proliferation	GO:0048146	9.16	ESR1 NDUFS4
3	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	8.96	NDUFS3 NDUFS4
4	reactive oxygen species metabolic process	GO:0072593	8.62	NDUFS3 NDUFS4

Molecular functions related to Comedo Carcinoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	NADH dehydrogenase (ubiquinone) activity	GO:0008137	8.96	NDUFS3 NDUFS4
2	oxidoreductase activity, acting on NAD(P)H	GO:0016651	8.62	NDUFS3 NDUFS4

Sources

Sources for Comedo Carcinoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia