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DFNB98
MCID: DFN269
MIFTS: 35

Deafness, Autosomal Recessive 98 (DFNB98)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Recessive 98

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MalaCards integrated aliases for Deafness, Autosomal Recessive 98:

Name: Deafness, Autosomal Recessive 98 57 29 13 6 71
Dfnb98 57 12 73
Autosomal Recessive Nonsyndromic Deafness 98 12 15
Deafness, Autosomal Recessive, Type 98 39
Deafness, Autosomal Recessive, 98 73
Autosomal Recessive Deafness 98 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 98:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110540
OMIM® 57 614861
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C3553932
Sources

Summaries for Deafness, Autosomal Recessive 98

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UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 98: A form of non-syndromic sensorineural hearing loss with prelingual onset. 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 Recessive 98, also known as dfnb98, is related to deafness, autosomal recessive 8 and petroclival meningioma. An important gene associated with Deafness, Autosomal Recessive 98 is TSPEAR (Thrombospondin Type Laminin G Domain And EAR Repeats), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TSPEAR gene on chromosome 21q22.

OMIM® : 57 This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012). (614861) (Updated 05-Mar-2021)

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Related Diseases for Deafness, Autosomal Recessive 98

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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
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 Recessive 98 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 8 30.1 TSPEAR TMPRSS4 TMPRSS3
2 petroclival meningioma 10.2 TMPRSS4 TMPRSS3
3 deafness, autosomal recessive 83 10.2 TMPRSS4 TMPRSS3
4 deafness, autosomal dominant 7 10.2 TMPRSS4 TMPRSS3
5 deafness, autosomal recessive 39 10.1 TMPRSS3 CLDN14
6 deafness, autosomal recessive 29 10.1 TSPEAR CLDN14
7 auditory system disease 10.0 TMPRSS4 TMPRSS3 ADGRV1
8 epilepsy, familial temporal lobe, 1 10.0 LGI2 LGI1 ADGRV1
9 hereditary hearing loss and deafness 10.0 KCNE1 CLDN14
10 autosomal dominant nonsyndromic deafness 10.0 TMPRSS4 TMPRSS3 ADGRV1
11 unverricht-lundborg syndrome 10.0 LGI2 LGI1 ADGRV1
12 vestibular disease 9.9 TMPRSS3 KCNE3 KCNE1
13 branchiootic syndrome 1 9.9
14 deafness, autosomal recessive 9.9
15 audiogenic seizures 9.9
16 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9
17 rare genetic deafness 9.9 TMPRSS3 KCNE1 ADGRV1
18 peripheral vertigo 9.8 KCNE3 KCNE1
19 meniere disease 9.7 KCNE3 KCNE1
20 hypokalemic periodic paralysis, type 1 9.6 KCNE5 KCNE4 KCNE3 KCNE1
21 atrial fibrillation 9.6 KCNQ1 KCNE2 KCNE1
22 long qt syndrome 12 9.6 KCNQ1 KCNE2 KCNE1
23 long qt syndrome 10 9.6 KCNQ1 KCNE2 KCNE1
24 long qt syndrome 13 9.6 KCNQ1 KCNE2 KCNE1
25 long qt syndrome 11 9.6 KCNQ1 KCNE2 KCNE1
26 ventricular fibrillation, paroxysmal familial, 1 9.6 KCNQ1 KCNE2 KCNE1
27 long qt syndrome 9 9.6 KCNQ1 KCNE2 KCNE1
28 long qt syndrome 3 9.6 KCNQ1 KCNE2 KCNE1
29 timothy syndrome 9.6 KCNQ1 KCNE2 KCNE1
30 cardiac arrhythmia, ankyrin-b-related 9.6 KCNQ1 KCNE2 KCNE1
31 myasthenic syndrome, congenital, 5 9.6 KCNQ1 KCNE2 KCNE1
32 atrioventricular block 9.6 KCNQ1 KCNE2 KCNE1
33 familial long qt syndrome 9.5 KCNQ1 KCNE2 KCNE1
34 intrinsic cardiomyopathy 9.5 KCNQ1 KCNE2 KCNE1
35 long qt syndrome 6 9.3 KCNQ1 KCNE3 KCNE2 KCNE1
36 andersen cardiodysrhythmic periodic paralysis 9.3 KCNQ1 KCNE3 KCNE2 KCNE1
37 catecholaminergic polymorphic ventricular tachycardia 9.3 KCNQ1 KCNE3 KCNE2 KCNE1
38 sensorineural hearing loss 9.1 TSPEAR TMPRSS3 KCNQ1 KCNE5 KCNE1 CLDN14
39 long qt syndrome 5 9.1 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
40 long qt syndrome 9.1 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
41 short qt syndrome 9.1 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
42 long qt syndrome 2 9.1 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
43 jervell and lange-nielsen syndrome 1 8.9 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
44 familial atrial fibrillation 8.9 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
45 long qt syndrome 1 8.9 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
46 heart conduction disease 8.9 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
47 brugada syndrome 8.8 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 98:



Diseases related to Deafness, Autosomal Recessive 98
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Symptoms & Phenotypes for Deafness, Autosomal Recessive 98

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Human phenotypes related to Deafness, Autosomal Recessive 98:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
sensorineural deafness, profound
no auditory brainstem response to 100-db stimulus
transient evoked otoacoustic emissions cannot be detected

Clinical features from OMIM®:

614861 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 98:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 ADGRV1 CLDN14 KCNE3 KCNQ1 TMPRSS3
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 98

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Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 98

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Genetic Tests for Deafness, Autosomal Recessive 98

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Genetic tests related to Deafness, Autosomal Recessive 98:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 98 29 TSPEAR
Sources

Anatomical Context for Deafness, Autosomal Recessive 98

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Publications for Deafness, Autosomal Recessive 98

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Articles related to Deafness, Autosomal Recessive 98:

# Title Authors PMID Year
1
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 57 6 61
22678063 2012
2
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 6
27736875 2016
3
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
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Variations for Deafness, Autosomal Recessive 98

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ClinVar genetic disease variations for Deafness, Autosomal Recessive 98:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSPEAR-AS1 NM_144991.3(TSPEAR):c.1728del (p.Lys577fs) Deletion Pathogenic 37311 rs782540538 21:45929108-45929108 21:44509225-44509225
2 TSPEAR NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) SNV Uncertain significance 229377 rs146257403 21:45953746-45953746 21:44533863-44533863
3 TSPEAR-AS1 NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His) SNV not provided 684487 rs781818534 21:45929161-45929161 21:44509278-44509278
Sources

Expression for Deafness, Autosomal Recessive 98

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 98.
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Pathways for Deafness, Autosomal Recessive 98

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Pathways related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.46 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
2
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
11.91 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
3
Phase 0 - rapid depolarisation 65
Show member pathways
 11.31 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
4
Antiarrhythmic Pathway, Pharmacodynamics 60
10.85 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
5
TarBasePathway 1
10.65 KCNQ1 KCNE1
6
LGI-ADAM interactions 65
10.5 LGI2 LGI1
Sources

GO Terms for Deafness, Autosomal Recessive 98

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Cellular components related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.7 TMPRSS4 TMPRSS3 LGR5 KCNQ1 KCNE5 KCNE4
2 voltage-gated potassium channel complex GO:0008076 9.1 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Biological processes related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.05 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
2 regulation of ion transmembrane transport GO:0034765 9.91 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
3 sensory perception of sound GO:0007605 9.89 TSPEAR TMPRSS3 KCNQ1 KCNE1 ADGRV1
4 potassium ion transport GO:0006813 9.88 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
5 regulation of heart rate by cardiac conduction GO:0086091 9.88 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
6 potassium ion transmembrane transport GO:0071805 9.85 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
7 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.85 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
8 ventricular cardiac muscle cell action potential GO:0086005 9.8 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
9 inner ear development GO:0048839 9.77 LGR5 KCNQ1 ADGRV1
10 cardiac conduction GO:0061337 9.77 KCNQ1 KCNE2 KCNE1
11 regulation of potassium ion transmembrane transport GO:1901379 9.74 KCNE5 KCNE2 KCNE1
12 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNQ1 KCNE5 KCNE1
13 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.73 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
14 membrane repolarization GO:0086009 9.72 KCNQ1 KCNE2 KCNE1
15 regulation of membrane repolarization GO:0060306 9.71 KCNQ1 KCNE5 KCNE2
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.7 KCNQ1 KCNE5 KCNE1
17 cardiac muscle contraction GO:0060048 9.64 KCNQ1 KCNE5
18 regulation of heart contraction GO:0008016 9.63 KCNQ1 KCNE5
19 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 KCNE2 KCNE1
20 potassium ion export across plasma membrane GO:0097623 9.63 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
21 atrial cardiac muscle cell action potential GO:0086014 9.62 KCNQ1 KCNE5
22 positive regulation of voltage-gated calcium channel activity GO:1901387 9.62 KCNE3 KCNE2
23 regulation of delayed rectifier potassium channel activity GO:1902259 9.61 KCNE2 KCNE1
24 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 KCNQ1 KCNE5
25 negative regulation of voltage-gated potassium channel activity GO:1903817 9.61 KCNQ1 KCNE3 KCNE2
26 negative regulation of potassium ion export across plasma membrane GO:1903765 9.58 KCNE5 KCNE3
27 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.43 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
28 membrane repolarization during action potential GO:0086011 9.1 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Molecular functions related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.83 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
2 ion channel binding GO:0044325 9.8 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
3 potassium channel activity GO:0005267 9.77 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
4 potassium channel regulator activity GO:0015459 9.65 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
5 voltage-gated potassium channel activity GO:0005249 9.63 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
6 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.58 KCNQ1 KCNE5 KCNE1
7 delayed rectifier potassium channel activity GO:0005251 9.43 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.1 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
Sources

Sources for Deafness, Autosomal Recessive 98

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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