Autosomal Dominant Café Au Lait Spots disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ATS270 MIFTS: 30	Autosomal Dominant Café Au Lait Spots Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Autosomal Dominant Café Au Lait Spots

MalaCards integrated aliases for Autosomal Dominant Café Au Lait Spots:

Name: Autosomal Dominant Café Au Lait Spots ⁵⁴

Multiple Cafe-Au-Lait Spots ⁵⁴ ³⁰ ⁶

Neurofibromatosis Type 6 ⁵⁴ ³⁰

Nf6 ⁵⁴

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Skin diseases Neuronal diseases

See all MalaCards categories (disease lists)

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Summaries for Autosomal Dominant Café Au Lait Spots

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2678Disease definitionNeurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.EpidemiologyPrevalence is unknown, but the disease appears to be extremely rare.Clinical descriptionThe macules may appear in infancy, but usually they are detected after 2 years of age. CAL lesions are hyperpigmented with smooth or irregular borders. Their size may vary from a few millimeters to more than 10 cm.EtiologyThe etiology of NF6 remains unknown. Close linkage to the NF1 gene (17q11.2) has been reported in some cases.Diagnostic methodsThe diagnosis is based on the presence of six or more CAL macules.Differential diagnosisDifferential diagnoses include neurofibromatosis type 1, McCune-Albright syndrome, and tuberous sclerosis (see these terms).Genetic counselingTransmission is autosomal dominant.Management and treatmentIsolated CAL lesions do not require medical care.PrognosisCAL spots are benign and may resolve with age.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Dominant Café Au Lait Spots, also known as multiple cafe-au-lait spots, is related to legius syndrome and neurofibromatosis, type iv, of riccardi. An important gene associated with Autosomal Dominant Café Au Lait Spots is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Innate Immune System and Developmental Biology. Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Autosomal Dominant Café Au Lait Spots

Diseases in the Cafe-Au-Lait Spots, Multiple family:

Autosomal Dominant Café Au Lait Spots

Diseases related to Autosomal Dominant Café Au Lait Spots via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	legius syndrome	31.3	NF1 PTPN11 SPRED1 SPRED2
2	neurofibromatosis, type iv, of riccardi	29.4	NF1 PTPN11
3	cafe-au-lait spots, multiple	11.8
4	noonan syndrome 1	10.4
5	pseudo-turner syndrome	10.4
6	neurofibromatosis-noonan syndrome	9.9	NF1 PTPN11
7	myelodysplastic myeloproliferative cancer	9.9	NF1 PTPN11
8	leopard syndrome	9.9	NF1 PTPN11
9	pulmonic stenosis	9.9	NF1 PTPN11
10	plexiform neurofibroma	9.8	NF1 SPRED1
11	scoliosis	9.8	NF1 PTPN11
12	neurilemmomatosis	9.8	NF1 SPRED1
13	pulmonary valve disease	9.7	PTPN11 SPRED1
14	chronic myelomonocytic leukemia	9.7	NF1 PTPN11
15	cardiofaciocutaneous syndrome 1	9.7	PTPN11 SPRED1
16	bone marrow cancer	9.6	NF1 PTPN11
17	juvenile myelomonocytic leukemia	9.5	NF1 PTPN11 SPRED1

Graphical network of the top 20 diseases related to Autosomal Dominant Café Au Lait Spots:

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Symptoms & Phenotypes for Autosomal Dominant Café Au Lait Spots

GenomeRNAi Phenotypes related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:

²⁷ (show all 13)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.47	SPRED2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-118	9.47	PTPN11 SPRED2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.47	PTPN11
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.47	PTPN11
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	9.47	PTPN11
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.47	SPRED2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	9.47	PTPN11
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-19	9.47	SPRED2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.47	PTPN11
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-37	9.47	PTPN11
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.47	PTPN11
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.47	PTPN11
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-78	9.47	PTPN11

MGI Mouse Phenotypes related to Autosomal Dominant Café Au Lait Spots:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.33	NF1 PTPN11 SPRED1
2	hematopoietic system	MP:0005397	9.26	NF1 PTPN11 SPRED1 SPRED2
3	limbs/digits/tail	MP:0005371	8.92	NF1 PTPN11 SPRED1 SPRED2

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Drugs & Therapeutics for Autosomal Dominant Café Au Lait Spots

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Genetic Evaluation of NF1 and Scoliosis Patients	Completed	NCT01776125

Search NIH Clinical Center for Autosomal Dominant Café Au Lait Spots

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Genetic Tests for Autosomal Dominant Café Au Lait Spots

Genetic tests related to Autosomal Dominant Café Au Lait Spots:

#	Genetic test	Affiliating Genes
1	Multiple Cafe-Au-Lait Spots ³⁰
2	Neurofibromatosis Type 6 ³⁰

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Anatomical Context for Autosomal Dominant Café Au Lait Spots

MalaCards organs/tissues related to Autosomal Dominant Café Au Lait Spots:

⁴²

Skin

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Publications for Autosomal Dominant Café Au Lait Spots

Articles related to Autosomal Dominant Café Au Lait Spots:

(show all 12)

#	Title	Authors	Year
1	Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1. ( 27469520 )	St John J...Belazarian L	2016
2	Lumbar lipomeningomyelocele associated with multiple café au lait spots: a case report. ( 25786983 )	Balasubramanian P...Manuvidhya H	2015
3	Multiple café au lait spots in familial patients with MAP2K2 mutation. ( 24311457 )	Takenouchi T...Kosaki K	2014
4	A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. ( 19120036 )	Nystr?m AM...Bondeson ML	2009
5	Diagnostic and management considerations posed by multiple café au lait spots. ( 19687427 )	Riccardi VM	2009
6	A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. ( 11809679 )	Whiteside D...Andrew SE	2002
7	Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? ( 11424146 )	Al-Sannaa N...Teebi AS	2001
8	Primary osteoma cutis--multiple café-au-lait spots and woolly hair anomaly. ( 7761159 )	Ruggieri M...Sorge G	1995
9	Familial multiple cafe au lait spots. ( 7979446 )	Arnsmeier SL...Paller AS	1994
10	Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage. ( 8456833 )	Charrow J...Ward K	1993
11	Diagnostic outcome in children with multiple café au lait spots. ( 1344978 )	Korf BR	1992
12	Birthmarks with serious medical significance: nevocullular nevi, sebaceous nevi, and multiple café au lait spots. ( 114614 )	Alper J...Mihm MC	1979

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Genes for Autosomal Dominant Café Au Lait Spots

Genes related to Autosomal Dominant Café Au Lait Spots (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NF1	Neurofibromin 1	Protein Coding	417.96	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
2	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)
3	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)
4	SPRED2	Sprouty Related EVH1 Domain Containing 2	Protein Coding	17.96	GeneCards inferred via : Publications (show sections)

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Variations for Autosomal Dominant Café Au Lait Spots

ClinVar genetic disease variations for Autosomal Dominant Café Au Lait Spots:

⁶ (show all 39)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NF1	NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu)	single nucleotide variant	Pathogenic	rs137854550	GRCh37	Chromosome 17, 29585518: 29585518
2	NF1	NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu)	single nucleotide variant	Pathogenic	rs137854550	GRCh38	Chromosome 17, 31258500: 31258500
3	NF1	NM_000267.3(NF1): c.574C> T (p.Arg192Ter)	single nucleotide variant	Pathogenic	rs397514641	GRCh37	Chromosome 17, 29497003: 29497003
4	NF1	NM_000267.3(NF1): c.574C> T (p.Arg192Ter)	single nucleotide variant	Pathogenic	rs397514641	GRCh38	Chromosome 17, 31169985: 31169985
5	SOS1	NM_005633.3(SOS1): c.1352C> A (p.Thr451Lys)	single nucleotide variant	Uncertain significance	rs730880218	GRCh37	Chromosome 2, 39250217: 39250217
6	SOS1	NM_005633.3(SOS1): c.1352C> A (p.Thr451Lys)	single nucleotide variant	Uncertain significance	rs730880218	GRCh38	Chromosome 2, 39023076: 39023076
7	NF1	NM_000267.3(NF1): c.4537C> T (p.Arg1513Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs760703505	GRCh37	Chromosome 17, 29588751: 29588751
8	NF1	NM_000267.3(NF1): c.4537C> T (p.Arg1513Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs760703505	GRCh38	Chromosome 17, 31261733: 31261733
9		46;X;t(X;18)(p11.4;q12.2)dn	Translocation	Uncertain significance
10	NF1	NM_000267.3(NF1): c.2446C> T (p.Arg816Ter)	single nucleotide variant	Pathogenic	rs886041347	GRCh37	Chromosome 17, 29556079: 29556079
11	NF1	NM_000267.3(NF1): c.2446C> T (p.Arg816Ter)	single nucleotide variant	Pathogenic	rs886041347	GRCh38	Chromosome 17, 31229061: 31229061
12	NF1	NM_000267.3(NF1): c.1721+3A> G	single nucleotide variant	Pathogenic	rs1057518904	GRCh38	Chromosome 17, 31221932: 31221932
13	NF1	NM_000267.3(NF1): c.1721+3A> G	single nucleotide variant	Pathogenic	rs1057518904	GRCh37	Chromosome 17, 29548950: 29548950
14	NF1	NM_001042492.2(NF1): c.2252-3T> G	single nucleotide variant	Likely pathogenic	rs1057518842	GRCh37	Chromosome 17, 29554233: 29554233
15	NF1	NM_001042492.2(NF1): c.2252-3T> G	single nucleotide variant	Likely pathogenic	rs1057518842	GRCh38	Chromosome 17, 31227215: 31227215
16	NF1	NM_001042492.2(NF1): c.2410-1G> A	single nucleotide variant	Pathogenic	rs1057518792	GRCh37	Chromosome 17, 29556042: 29556042
17	NF1	NM_001042492.2(NF1): c.2410-1G> A	single nucleotide variant	Pathogenic	rs1057518792	GRCh38	Chromosome 17, 31229024: 31229024
18	NF1	NM_001042492.2(NF1): c.6904C> T (p.Gln2302Ter)	single nucleotide variant	Pathogenic	rs1057518807	GRCh37	Chromosome 17, 29665806: 29665806
19	NF1	NM_001042492.2(NF1): c.6904C> T (p.Gln2302Ter)	single nucleotide variant	Pathogenic	rs1057518807	GRCh38	Chromosome 17, 31338788: 31338788
20	NF1	NM_000267.3(NF1): c.1721G> A (p.Ser574Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1555613206	GRCh37	Chromosome 17, 29548947: 29548947
21	NF1	NM_000267.3(NF1): c.1721G> A (p.Ser574Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1555613206	GRCh38	Chromosome 17, 31221929: 31221929
22	NF1	NM_000267.3(NF1): c.616_617insGG (p.Lys206Argfs)	insertion	Likely pathogenic	rs1555608663	GRCh38	Chromosome 17, 31181451: 31181452
23	NF1	NM_000267.3(NF1): c.616_617insGG (p.Lys206Argfs)	insertion	Likely pathogenic	rs1555608663	GRCh37	Chromosome 17, 29508469: 29508470
24	NF1	NM_001042492.2(NF1): c.3496+53T> C	single nucleotide variant	Uncertain significance	rs1555614994	GRCh37	Chromosome 17, 29559952: 29559952
25	NF1	NM_001042492.2(NF1): c.3496+53T> C	single nucleotide variant	Uncertain significance	rs1555614994	GRCh38	Chromosome 17, 31232934: 31232934
26	NF1	NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1555618516	GRCh38	Chromosome 17, 31258405: 31258405
27	NF1	NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1555618516	GRCh37	Chromosome 17, 29585423: 29585423
28	NF1	NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter)	single nucleotide variant	Pathogenic	rs1555533285	GRCh37	Chromosome 17, 29652877: 29652877
29	NF1	NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter)	single nucleotide variant	Pathogenic	rs1555533285	GRCh38	Chromosome 17, 31325859: 31325859
30	NF1	NM_000267.3(NF1): c.6046G> A (p.Ala2016Thr)	single nucleotide variant	Uncertain significance	rs1555534612	GRCh37	Chromosome 17, 29663453: 29663453
31	NF1	NM_000267.3(NF1): c.6046G> A (p.Ala2016Thr)	single nucleotide variant	Uncertain significance	rs1555534612	GRCh38	Chromosome 17, 31336435: 31336435
32	NF1	NM_000267.3(NF1): c.6641+2delT	deletion	Pathogenic	rs1555534929	GRCh37	Chromosome 17, 29664900: 29664900
33	NF1	NM_000267.3(NF1): c.6641+2delT	deletion	Pathogenic	rs1555534929	GRCh38	Chromosome 17, 31337882: 31337882
34	subset of 14 genes:NF1; RNF135	GRCh37/hg19 17q11.2(chr17: 29033882-30326958)	copy number loss	Pathogenic		GRCh37	Chromosome 17, 29033882: 30326958
35	subset of 14 genes:NF1; RNF135	GRCh37/hg19 17q11.2(chr17: 29033882-30326958)	copy number loss	Pathogenic		GRCh37	Chromosome 17, 29033882: 30326958
36	NF1	NM_001042492.2(NF1): c.989C> A (p.Ala330Glu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 17, 31200522: 31200522
37	NF1	NM_001042492.2(NF1): c.989C> A (p.Ala330Glu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 17, 29527540: 29527540
38	NF1	NM_001042492.2(NF1): c.2800_2802del (p.Phe934del)	deletion	Uncertain significance		GRCh38	Chromosome 17, 31229415: 31229417
39	NF1	NM_001042492.2(NF1): c.2800_2802del (p.Phe934del)	deletion	Uncertain significance		GRCh37	Chromosome 17, 29556433: 29556435

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Expression for Autosomal Dominant Café Au Lait Spots

Search GEO for disease gene expression data for Autosomal Dominant Café Au Lait Spots.

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Pathways for Autosomal Dominant Café Au Lait Spots

Pathways related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁷ Show member pathways Immune System ⁶⁷ Neutrophil degranulation ⁶⁷	13.35	NF1 PTPN11 SPRED1 SPRED2
2	Developmental Biology ⁶⁷ Show member pathways Axon guidance ⁶⁷	12.83	NF1 PTPN11 SPRED1 SPRED2
3	Cytokine Signaling in Immune system ⁶⁷ Show member pathways Signaling by Interleukins ⁶⁷	12.67	NF1 PTPN11 SPRED1 SPRED2
4	Development VEGF signaling via VEGFR2 - generic cascades ²³ Show member pathways Development VEGF signaling and activation ²³ VEGF - VEGF R2 Signaling Pathways ⁶⁶	11.82	NF1 PTPN11
5	Signaling by FGFR2 ⁶⁷ Show member pathways FGFR2 ligand binding and activation ⁶⁷ FGFR2b ligand binding and activation ⁶⁷ Signaling by FGFR ⁶⁷	11.62	PTPN11 SPRED1 SPRED2
6	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	11.53	PTPN11 SPRED1
7	MAP Kinase Signaling ⁴	11.42	NF1 PTPN11
8	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	11.34	PTPN11 SPRED1 SPRED2
9	Signaling by PTK6 ⁶⁷ Show member pathways PTK6 Activates STAT3 ⁶⁷ PTK6 Down-Regulation ⁶⁷ PTK6 Expression ⁶⁷ PTK6 promotes HIF1A stabilization ⁶⁷ PTK6 Regulates Proteins Involved in RNA Processing ⁶⁷ PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases ⁶⁷ PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 ⁶⁷ RAS signaling downstream of NF1 loss-of-function variants ⁶⁷	10.91	NF1 SPRED1 SPRED2

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GO Terms for Autosomal Dominant Café Au Lait Spots

Biological processes related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	heart development	GO:0007507	9.51	NF1 PTPN11
2	MAPK cascade	GO:0000165	9.49	NF1 SPRED1
3	negative regulation of angiogenesis	GO:0016525	9.48	NF1 SPRED1
4	negative regulation of protein kinase activity	GO:0006469	9.46	NF1 SPRED1
5	regulation of MAPK cascade	GO:0043408	9.43	NF1 SPRED1
6	regulation of signal transduction	GO:0009966	9.4	SPRED1 SPRED2
7	negative regulation of MAPK cascade	GO:0043409	9.37	NF1 SPRED1
8	inactivation of MAPK activity	GO:0000188	9.32	SPRED1 SPRED2
9	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.26	SPRED1 SPRED2
10	positive regulation of DNA damage response, signal transduction by p53 class mediator	GO:0043517	9.16	SPRED1 SPRED2
11	fibroblast growth factor receptor signaling pathway	GO:0008543	9.13	PTPN11 SPRED1 SPRED2
12	regulation of protein deacetylation	GO:0090311	8.62	SPRED1 SPRED2

Molecular functions related to Autosomal Dominant Café Au Lait Spots according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:0019901	9.33	PTPN11 SPRED1 SPRED2
2	protein serine/threonine kinase inhibitor activity	GO:0030291	8.96	SPRED1 SPRED2
3	stem cell factor receptor binding	GO:0005173	8.62	SPRED1 SPRED2

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Sources for Autosomal Dominant Café Au Lait Spots

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