Deafness, Autosomal Dominant 48 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Deafness, Autosomal Dominant 48

MalaCards integrated aliases for Deafness, Autosomal Dominant 48:

Name: Deafness, Autosomal Dominant 48 ⁵⁷ ²⁹ ¹³ ⁶ ⁷³

Dfna48 ⁵⁷ ¹² ⁷⁵

Autosomal Dominant Nonsyndromic Deafness 48 ¹² ¹⁵

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48 ⁷⁵

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48 ⁷⁵

Deafness Autosomal Dominant Due to Mutation in Myo1a ⁷⁵

Deafness, Autosomal Dominant, Type 48 ⁴⁰

Deafness, Autosomal Dominant, 48 ⁷⁵

Autosomal Dominant Deafness 48 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset from first to third decades of life
variable penetrance
one report of a large italian family from sardinia (last curated december 2015)

HPO:

³²

deafness, autosomal dominant 48:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Neuronal diseases Blood diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

External Ids:

OMIM ⁵⁷ 607841

Disease Ontology ¹² DOID:0110571

ICD10 ³³ H90.3

MedGen ⁴² C1842939

MeSH ⁴⁴ D006319

SNOMED-CT via HPO ⁶⁹ 263681008 60700002

UMLS ⁷³ C1842939

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Summaries for Deafness, Autosomal Dominant 48

UniProtKB/Swiss-Prot : ⁷⁵ Deafness, autosomal dominant, 48: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 48, also known as dfna48, is related to autosomal dominant nonsyndromic deafness and deafness, autosomal dominant 1. An important gene associated with Deafness, Autosomal Dominant 48 is MYO1A (Myosin IA), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : ¹² An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has material basis in variation in the chromosome region 12q13-q14.

Description from OMIM: 607841

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Related Diseases for Deafness, Autosomal Dominant 48

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1	Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2	Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3	Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5	Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6	Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5	Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8	Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11	Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12	Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12	Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13	Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a	Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17	Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17	Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14	Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16	Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20	Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26	Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27	Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24	Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30	Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21	Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31	Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive	Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44	Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37	Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38	Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40	Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49	Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35	Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31	Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32	Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23	Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46	Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28	Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47	Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53	Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49	Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66	Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65	Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68	Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63	Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45	Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b	Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b	Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50	Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25	Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a	Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91	Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83	Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61	Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29	Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33	Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b	Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98	Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70	Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b	Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76	Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54	Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101	Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103	Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67	Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104	Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97	Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105	Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66	Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72	Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107	Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73	Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109	Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness	Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106	Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108	Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72	Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34	Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 36	Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 48 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant nonsyndromic deafness	27.5	DFNA48 EYA1 MYH14 MYH9 MYO1A MYO6
2	deafness, autosomal dominant 1	10.4	MYO1A MYO3A
3	deafness, autosomal dominant 6	10.0	MYH14 MYO7A
4	deafness, autosomal recessive 3	9.9	MYO15A MYO7A
5	deafness, autosomal recessive 85	9.8	MYO15A MYO7A
6	deafness, autosomal recessive 83	9.8	MYO15A MYO7A
7	inner ear disease	9.7	MYH9 MYO7A
8	deafness, autosomal recessive	9.6	CIB2 MYO3A MYO6
9	deafness, autosomal dominant 10	9.6	EYA1 MYH14
10	usher syndrome type 2	9.6	CIB2 MYO7A
11	deafness, autosomal dominant 11	9.4	MYO15A MYO6 MYO7A
12	auditory system disease	9.3	MYH9 MYO15A MYO7A
13	non-syndromic genetic deafness	9.3	MYH9 MYO15A MYO6
14	deafness, autosomal recessive 2	9.0	MYO15A MYO1A MYO6 MYO7A
15	sensorineural hearing loss	8.7	MYH9 MYO15A MYO6 MYO7A
16	autosomal dominant non-syndromic sensorineural deafness type dfna	8.7	MYH14 MYH9 MYO1A MYO6 MYO7A
17	autosomal recessive non-syndromic sensorineural deafness type dfnb	7.9	CIB2 MYH9 MYO15A MYO3A MYO6 MYO7A
18	deafness, autosomal dominant 17	7.6	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
19	deafness, autosomal dominant 22	7.6	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
20	deafness, autosomal recessive 30	7.6	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
21	deafness, autosomal recessive 37	7.6	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
22	autosomal recessive nonsyndromic deafness 3	7.6	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
23	nonsyndromic deafness	7.1	CIB2 MYH14 MYH9 MYO15A MYO1A MYO3A

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 48:

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Symptoms & Phenotypes for Deafness, Autosomal Dominant 48

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
hearing loss, postlingual, slowly progressive, bilateral and symmetric (moderate to severe)

Clinical features from OMIM:

607841

Human phenotypes related to Deafness, Autosomal Dominant 48:

³²

#	Description	HPO Frequency	HPO Source Accession
1	sensorineural hearing impairment ³²		HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 48:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.76	MYO15A MYO1A MYO3A MYO6 MYO7A CIB2
2	nervous system	MP:0003631	9.56	CIB2 EYA1 MYH14 MYH9 MYO15A MYO3A
3	vision/eye	MP:0005391	9.02	EYA1 MYH9 MYO15A MYO6 MYO7A

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Drugs & Therapeutics for Deafness, Autosomal Dominant 48

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 48

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Genetic Tests for Deafness, Autosomal Dominant 48

Genetic tests related to Deafness, Autosomal Dominant 48:

#	Genetic test	Affiliating Genes
1	Deafness, Autosomal Dominant 48 ²⁹	MYO1A

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Anatomical Context for Deafness, Autosomal Dominant 48

MalaCards organs/tissues related to Deafness, Autosomal Dominant 48:

⁴¹

Brain

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Publications for Deafness, Autosomal Dominant 48

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Genes for Deafness, Autosomal Dominant 48

Genes related to Deafness, Autosomal Dominant 48 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MYO1A	Myosin IA	Protein Coding	127.29	Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	DFNA48	Deafness, Autosomal Dominant 48	Genetic Locus	58.55	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)
3	MYO3A	Myosin IIIA	Protein Coding	16.85	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	MYH14	Myosin Heavy Chain 14	Protein Coding	16.65	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	CIB2	Calcium And Integrin Binding Family Member 2	Protein Coding	16.43	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MYO7A	Myosin VIIA	Protein Coding	16.34	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	MYO6	Myosin VI	Protein Coding	16.3	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	MYO15A	Myosin XVA	Protein Coding	16.21	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	15.91	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	MYH9	Myosin Heavy Chain 9	Protein Coding	14.93	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Deafness, Autosomal Dominant 48

ClinVar genetic disease variations for Deafness, Autosomal Dominant 48:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MYO1A	NM_005379.3(MYO1A): c.1882C> G (p.Arg628Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151187460	GRCh37	Chromosome 12, 57431732: 57431732
2	MYO1A	NM_005379.3(MYO1A): c.1882C> G (p.Arg628Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151187460	GRCh38	Chromosome 12, 57037948: 57037948
3	MYO1A	NM_005379.3(MYO1A): c.2021G> A (p.Gly674Asp)	single nucleotide variant	Likely benign	rs148808080	GRCh37	Chromosome 12, 57431366: 57431366
4	MYO1A	NM_005379.3(MYO1A): c.2021G> A (p.Gly674Asp)	single nucleotide variant	Likely benign	rs148808080	GRCh38	Chromosome 12, 57037582: 57037582
5	MYO1A	NM_005379.3(MYO1A): c.1011+2T> G	single nucleotide variant	Likely benign	rs875989945	GRCh38	Chromosome 12, 57043238: 57043238
6	MYO1A	NM_005379.3(MYO1A): c.1011+2T> G	single nucleotide variant	Likely benign	rs875989945	GRCh37	Chromosome 12, 57437022: 57437022
7	MYO1A	NM_005379.3(MYO1A): c.640+1G> C	single nucleotide variant	Likely benign	rs199924915	GRCh37	Chromosome 12, 57440335: 57440335
8	MYO1A	NM_005379.3(MYO1A): c.640+1G> C	single nucleotide variant	Likely benign	rs199924915	GRCh38	Chromosome 12, 57046551: 57046551
9	MYO1A	NM_005379.3(MYO1A): c.235G> T (p.Ala79Ser)	single nucleotide variant	Likely benign	rs147101055	GRCh37	Chromosome 12, 57441501: 57441501
10	MYO1A	NM_005379.3(MYO1A): c.235G> T (p.Ala79Ser)	single nucleotide variant	Likely benign	rs147101055	GRCh38	Chromosome 12, 57047717: 57047717

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Expression for Deafness, Autosomal Dominant 48

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 48.

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Pathways for Deafness, Autosomal Dominant 48

Pathways related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.45	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.09	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	12.98	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
4	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.75	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.59	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
6	Actin Nucleation by ARP-WASP Complex ⁶⁴ Show member pathways Actin Nucleation and Branching ⁶⁴ CDC42 Pathway ⁶⁴ RhoA Pathway ⁶⁴	12.53	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7	Cytoskeletal Signaling ⁴	12.12	MYH14 MYH9 MYO6
8	RhoGDI Pathway ⁶⁴ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁴	11.88	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9	Cytoskeleton remodeling_RalA regulation pathway ²²	10.71	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

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GO Terms for Deafness, Autosomal Dominant 48

Cellular components related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.85	CIB2 MYO15A MYO3A MYO6
2	cell cortex	GO:0005938	9.63	MYH9 MYO6 MYO7A
3	photoreceptor outer segment	GO:0001750	9.54	CIB2 MYO7A
4	microvillus	GO:0005902	9.54	MYO1A MYO6 MYO7A
5	neuromuscular junction	GO:0031594	9.52	CIB2 MYH9
6	stress fiber	GO:0001725	9.51	MYH14 MYH9
7	brush border	GO:0005903	9.5	MYH14 MYH9 MYO1A
8	photoreceptor inner segment	GO:0001917	9.49	CIB2 MYO7A
9	actomyosin	GO:0042641	9.43	MYH14 MYH9
10	myosin II complex	GO:0016460	9.4	MYH14 MYH9
11	filamentous actin	GO:0031941	9.33	MYO1A MYO3A MYO6
12	myosin II filament	GO:0097513	9.26	MYH14 MYH9
13	stereocilium	GO:0032420	9.26	CIB2 MYO15A MYO3A MYO7A
14	myosin complex	GO:0016459	9.17	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
15	cytoplasm	GO:0005737	10.13	CIB2 EYA1 MYH14 MYH9 MYO15A MYO1A

Biological processes related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sensory perception of sound	GO:0007605	9.5	EYA1 MYH14 MYO15A MYO1A MYO3A MYO6
2	actin filament-based movement	GO:0030048	9.46	MYH14 MYH9 MYO6 MYO7A
3	inner ear morphogenesis	GO:0042472	9.43	EYA1 MYO15A MYO7A
4	actomyosin structure organization	GO:0031032	9.37	MYH14 MYH9
5	cochlea morphogenesis	GO:0090103	9.32	EYA1 MYO3A
6	microtubule-based movement	GO:0007018	9.17	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

Molecular functions related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.87	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
2	actin filament binding	GO:0051015	9.83	MYH14 MYH9 MYO1A MYO6 MYO7A
3	nucleotide binding	GO:0000166	9.8	MYH14 MYH9 MYO3A MYO7A
4	microtubule binding	GO:0008017	9.8	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5	ADP binding	GO:0043531	9.71	MYH9 MYO3A MYO6 MYO7A
6	calmodulin binding	GO:0005516	9.7	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7	actin-dependent ATPase activity	GO:0030898	9.67	MYH14 MYH9 MYO3A MYO7A
8	microfilament motor activity	GO:0000146	9.63	MYH9 MYO3A MYO7A
9	microtubule motor activity	GO:0003777	9.5	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
10	motor activity	GO:0003774	9.17	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
11	ATP binding	GO:0005524	10.02	MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

Sources

Sources for Deafness, Autosomal Dominant 48

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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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

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

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³⁸ LifeMap

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⁴¹ MalaCards

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

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⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia