DFNA48
MCID: DFN202
MIFTS: 36

Deafness, Autosomal Dominant 48 (DFNA48)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 48

MalaCards integrated aliases for Deafness, Autosomal Dominant 48:

Name: Deafness, Autosomal Dominant 48 57 29 13 6 70
Dfna48 57 12 72
Autosomal Dominant Nonsyndromic Deafness 48 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48 72
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48 72
Deafness Autosomal Dominant Due to Mutation in Myo1a 72
Deafness, Autosomal Dominant, Type 48 39
Deafness, Autosomal Dominant, 48 72
Autosomal Dominant Deafness 48 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
deafness, autosomal dominant 48:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110571
OMIM® 57 607841
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1842939
SNOMED-CT via HPO 68 263681008 60700002
UMLS 70 C1842939

Summaries for Deafness, Autosomal Dominant 48

UniProtKB/Swiss-Prot : 72 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 nonsyndromic hearing loss and deafness, autosomal recessive 3. 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. 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.

More information from OMIM: 607841 PS124900

Related Diseases for Deafness, Autosomal Dominant 48

Diseases in the Rare Deafness family:

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 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 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
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 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 32
Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
Nonsyndromic Deafness Otof-Related Deafness
Familial Deafness

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss 29.0 MYO7A MYO6 MYO3A MYO15A MYH14
2 deafness, autosomal recessive 3 10.2 MYO7A MYO15A
3 nonsyndromic deafness 10.2 MYO7A MYO15A
4 deafness, autosomal recessive 79 10.1 MYO3A MYO15A
5 deafness, autosomal recessive 83 10.1 MYO7A MYO15A
6 deafness, autosomal recessive 18a 10.1 MYO7A MYO15A
7 deafness, autosomal recessive 7 10.1 MYO7A MYO15A
8 branchiootic syndrome 1 10.1
9 deafness, autosomal dominant 6 10.1 MYO7A MYO15A
10 deafness, autosomal dominant 7 10.1 MYO6 MYO1A
11 deafness, autosomal recessive 15 10.1 MYO6 MYO15A
12 vestibular disease 10.1 MYO7A MYO15A
13 deafness, autosomal dominant 15 10.1 MYO7A MYO6
14 deafness, autosomal recessive 63 10.0 MYO7A MYO15A
15 deafness, autosomal recessive 23 10.0 MYO7A MYO15A
16 deafness, autosomal recessive 71 10.0 MYO7A MYO6
17 myh-9 related disease 10.0 MYO7A MYH14
18 deafness, autosomal dominant 9 10.0 MYO7A MYO6
19 deafness, autosomal dominant 11 10.0 MYO7A MYO3A MYO15A
20 deafness, autosomal recessive 2 10.0 MYO7A MYO3A MYO15A
21 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 MYO7A MYO3A MYO15A
22 deafness, autosomal recessive 9 9.9 MYO7A MYO15A
23 usher syndrome, type ih 9.9 MYO7A CIB2
24 usher syndrome, type ij 9.9 MYO7A CIB2
25 deafness, autosomal recessive 48 9.9 MYO7A CIB2
26 deafness, autosomal dominant 10 9.8 MYO6 MYH14
27 myopathy, centronuclear, 1 9.8 MYO1C MYO1B MYO1A
28 amebiasis 9.7 MYO1C MYO1B
29 non-syndromic genetic deafness 9.7 MYO7A MYO6 MYO3A MYO15A
30 usher syndrome, type iid 9.7 MYO7A MYO15A CIB2
31 usher syndrome, type if 9.7 MYO7A MYO15A CIB2
32 usher syndrome, type iic 9.7 MYO7A MYO15A CIB2
33 usher syndrome, type iiia 9.7 MYO7A MYO15A CIB2
34 usher syndrome type 2 9.7 MYO7A MYO15A CIB2
35 deafness, autosomal dominant 1, with or without thrombocytopenia 9.6 MYO7A MYO3A MYO15A MYH14
36 autosomal recessive nonsyndromic deafness 3 9.6 MYO7A MYO6 MYO3A MYO1A MYO15A
37 digenic disease 9.5 MYO7A CIB2
38 usher syndrome, type id 9.5 MYO7A MYO3A MYO15A CIB2
39 deafness, autosomal recessive 12 9.4 MYO7A MYO1C MYO15A CIB2
40 deafness, autosomal recessive 9.3 MYO7A MYO6 MYO3A MYO15A CIB2
41 autosomal recessive nonsyndromic deafness 9.3 MYO7A MYO6 MYO3A MYO15A CIB2
42 auditory system disease 9.3 MYO7A MYO6 MYO3A MYO15A CIB2
43 rare genetic deafness 9.3 MYO7A MYO6 MYO3A MYO15A CIB2
44 usher syndrome, type i 9.2 MYO7A MYO3A MYO1C MYO15A CIB2
45 deafness, autosomal recessive 30 9.2 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
46 deafness, autosomal dominant 17 9.2 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
47 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.1 MYO7A MYO6 MYO3A MYO15A CIB2
48 autosomal dominant non-syndromic sensorineural deafness type dfna 9.0 MYO7A MYO6 MYO1C MYH14 CIB2
49 usher syndrome 9.0 MYO7A MYO6 MYO3A MYO1C MYO15A CIB2
50 deafness, autosomal recessive 37 9.0 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

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



Diseases related to Deafness, Autosomal Dominant 48

Symptoms & Phenotypes for Deafness, Autosomal Dominant 48

Human phenotypes related to Deafness, Autosomal Dominant 48:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, postlingual, slowly progressive, bilateral and symmetric (moderate to severe)

Clinical features from OMIM®:

607841 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 48:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CIB2 MYO15A MYO1A MYO1C MYO3A MYO6
2 nervous system MP:0003631 9.17 CIB2 MYH14 MYO15A MYO1C MYO3A MYO6

Drugs & Therapeutics for Deafness, Autosomal Dominant 48

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

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

Anatomical Context for Deafness, Autosomal Dominant 48

Publications for Deafness, Autosomal Dominant 48

Articles related to Deafness, Autosomal Dominant 48:

# Title Authors PMID Year
1
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness. 61 57
24616153 2014
2
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. 61 57
12736868 2003
3
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. 57 61
12596055 2003
4
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008

Variations for Deafness, Autosomal Dominant 48

ClinVar genetic disease variations for Deafness, Autosomal Dominant 48:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO1A NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) SNV Conflicting interpretations of pathogenicity 8146 rs121909305 GRCh37: 12:57441459-57441459
GRCh38: 12:57047675-57047675
2 MYO1A NM_005379.4(MYO1A):c.916G>A (p.Val306Met) SNV Uncertain significance 8148 rs55679042 GRCh37: 12:57437119-57437119
GRCh38: 12:57043335-57043335
3 MYO1A NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) SNV Uncertain significance 8150 rs33962952 GRCh37: 12:57431402-57431402
GRCh38: 12:57037618-57037618
4 MYO1A NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup) Duplication Uncertain significance 8147 rs864309476 GRCh37: 12:57441167-57441168
GRCh38: 12:57047383-57047384
5 MYO1A NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp) SNV Uncertain significance 8149 rs61753849 GRCh37: 12:57435225-57435225
GRCh38: 12:57041441-57041441
6 MYO1A NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro) SNV Uncertain significance 8151 rs121909306 GRCh37: 12:57423368-57423368
GRCh38: 12:57029584-57029584
7 MYO1A NM_005379.4(MYO1A):c.1011+2T>G SNV Likely benign 226410 rs875989945 GRCh37: 12:57437022-57437022
GRCh38: 12:57043238-57043238
8 MYO1A NM_005379.4(MYO1A):c.640+1G>C SNV Likely benign 226409 rs199924915 GRCh37: 12:57440335-57440335
GRCh38: 12:57046551-57046551
9 MYO1A NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp) SNV Likely benign 226411 rs148808080 GRCh37: 12:57431366-57431366
GRCh38: 12:57037582-57037582
10 MYO1A NM_005379.4(MYO1A):c.235G>T (p.Ala79Ser) SNV Likely benign 226408 rs147101055 GRCh37: 12:57441501-57441501
GRCh38: 12:57047717-57047717
11 MYO1A NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly) SNV Likely benign 164590 rs151187460 GRCh37: 12:57431732-57431732
GRCh38: 12:57037948-57037948

Expression for Deafness, Autosomal Dominant 48

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

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
Show member pathways
13.51 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
2
Show member pathways
13.15 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
3
Show member pathways
13.04 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
4
Show member pathways
12.81 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
5
Show member pathways
12.65 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
6
Show member pathways
12.59 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
7
Show member pathways
12.5 MYO6 MYO1C MYO1B MYO1A MYH14
8
Show member pathways
12.08 MYO6 MYO1C MYO1B
9
Show member pathways
11.94 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
10 10.77 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A

GO Terms for Deafness, Autosomal Dominant 48

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.15 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
2 cell projection GO:0042995 9.91 MYO6 MYO3A MYO1C MYO15A CIB2
3 actin cytoskeleton GO:0015629 9.8 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
4 brush border GO:0005903 9.71 MYO1C MYO1B MYO1A MYH14
5 filamentous actin GO:0031941 9.67 MYO6 MYO3A MYO1C MYO1A
6 microvillus GO:0005902 9.65 MYO7A MYO6 MYO1C MYO1B MYO1A
7 vesicle GO:0031982 9.63 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
8 filopodium GO:0030175 9.61 MYO6 MYO3A MYO1B
9 photoreceptor outer segment GO:0001750 9.57 MYO7A CIB2
10 stress fiber GO:0001725 9.56 MYO1C MYH14
11 lateral plasma membrane GO:0016328 9.55 MYO1C MYO1A
12 photoreceptor inner segment GO:0001917 9.54 MYO7A CIB2
13 basal plasma membrane GO:0009925 9.52 MYO1C MYO1A
14 stereocilium bundle GO:0032421 9.48 MYO1C MYO15A
15 unconventional myosin complex GO:0016461 9.46 MYO6 MYO1C
16 stereocilium GO:0032420 9.35 MYO7A MYO3A MYO1C MYO15A CIB2
17 myosin complex GO:0016459 9.23 MYO7A MYO6 MYO3A MYO1C MYO1B 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 9.63 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
2 actin filament-based movement GO:0030048 9.56 MYO7A MYO6 MYO1B MYH14
3 inner ear morphogenesis GO:0042472 9.5 MYO7A MYO6 MYO15A
4 actin filament organization GO:0007015 9.43 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
5 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A MYO6
6 vesicle transport along actin filament GO:0030050 9.1 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.03 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
2 ATP binding GO:0005524 10.01 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
3 actin binding GO:0003779 9.92 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
4 actin filament binding GO:0051015 9.91 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
5 calmodulin binding GO:0005516 9.86 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
6 actin-dependent ATPase activity GO:0030898 9.76 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
7 ADP binding GO:0043531 9.63 MYO7A MYO6 MYO3A
8 motor activity GO:0003774 9.56 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
9 microfilament motor activity GO:0000146 9.23 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A

Sources for Deafness, Autosomal Dominant 48

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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