DFNA12
MCID: DFN353
MIFTS: 33

Deafness, Autosomal Dominant 12 (DFNA12)

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

Aliases & Classifications for Deafness, Autosomal Dominant 12

MalaCards integrated aliases for Deafness, Autosomal Dominant 12:

Name: Deafness, Autosomal Dominant 12 57 29 6 73
Dfna12 57 12 75 55
Dfna8 57 12 75 55
Autosomal Dominant Nonsyndromic Deafness 12 12 15
Deafness, Autosomal Dominant 8/12 57 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12 75
Deafness, Autosomal Dominant 8; Dfna8 57
Deafness, Autosomal Dominant, Type 12 40
Deafness, Autosomal Dominant, 12 75
Deafness, Autosomal Dominant 8 57
Autosomal Dominant Deafness 12 12
Autosomal Dominant Deafness 8 12
Deafness Autosomal Dominant 8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset may be prelingual or in childhood
hearing loss may be stable or progressive
allelic disorder to autosomal recessive deafness 21 (dfnb21, )


HPO:

32
deafness, autosomal dominant 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601543
Disease Ontology 12 DOID:0110544
ICD10 33 H90.3
MedGen 42 C1832187
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 60700002
UMLS 73 C1832187

Summaries for Deafness, Autosomal Dominant 12

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 12: 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 12, also known as dfna12, is related to sensorineural hearing loss and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Dominant 12 is TECTA (Tectorin Alpha). The drugs Epirubicin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has material basis in mutation in the TECTA gene on chromosome 11q23.

Description from OMIM: 601543

Related Diseases for Deafness, Autosomal Dominant 12

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 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 29.6 COL11A2 GSDME TECTA
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 deafness, autosomal recessive 18b 10.0 OTOG TECTA
4 deafness, autosomal recessive 21 10.0 OTOG TECTA
5 deafness, autosomal dominant 44 9.9 CCDC50 COL11A2
6 deafness, autosomal dominant 10 9.9 CCDC50 COL11A2
7 branchiootic syndrome 1 9.9 OTOG TECTA
8 deafness, autosomal dominant 6 9.8 COL11A2 GSDME
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 COL11A2 OTOG OTOGL TECTA
10 non-syndromic genetic deafness 9.5 GSDME OTOG OTOGL TECTA
11 nonsyndromic deafness 9.3 COL11A2 GSDME OTOG OTOGL TECTA
12 deafness, autosomal dominant 13 9.3 CCDC50 COL11A2 GSDME OTOG OTOGL
13 autosomal dominant nonsyndromic deafness 9.1 CCDC50 COL11A2 GSDME OTOG OTOGL TECTA

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 12:



Diseases related to Deafness, Autosomal Dominant 12

Symptoms & Phenotypes for Deafness, Autosomal Dominant 12

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural
affects mid- to high-frequencies
u-shaped audiogram


Clinical features from OMIM:

601543

Human phenotypes related to Deafness, Autosomal Dominant 12:

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

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 12 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.5 GSDME
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.5 GSDME
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.5 TECTA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.5 TECTA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.5 GSDME
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.5 GSDME
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.5 GSDME
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.5 TECTA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.5 GSDME
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.5 GSDME
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.5 TECTA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.5 GSDME
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.5 GSDME TECTA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.5 GSDME

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 COL11A2 GSDME OTOG TECTA

Drugs & Therapeutics for Deafness, Autosomal Dominant 12

Drugs for Deafness, Autosomal Dominant 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epirubicin Approved Not Applicable 56420-45-2 41867
2
Paclitaxel Approved, Vet_approved Not Applicable 33069-62-4 36314
3
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
4 Antineoplastic Agents, Phytogenic Not Applicable
5 Antimitotic Agents Not Applicable
6 Albumin-Bound Paclitaxel Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Paclitaxol Every 2 Week Versus Paclitaxol Every 1 Week in the Adjuvant Treatment of Breast Cancer Not yet recruiting NCT01848197 Not Applicable paclitaxel

Search NIH Clinical Center for Deafness, Autosomal Dominant 12

Genetic Tests for Deafness, Autosomal Dominant 12

Genetic tests related to Deafness, Autosomal Dominant 12:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 12 29 TECTA

Anatomical Context for Deafness, Autosomal Dominant 12

MalaCards organs/tissues related to Deafness, Autosomal Dominant 12:

41
Brain

Publications for Deafness, Autosomal Dominant 12

Articles related to Deafness, Autosomal Dominant 12:

# Title Authors Year
1
Clinical presentation of DFNA8-DFNA12. ( 12408064 )
2002
2
A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss. ( 9831143 )
1998

Variations for Deafness, Autosomal Dominant 12

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 12:

75 (show all 29)
# Symbol AA change Variation ID SNP ID
1 TECTA p.Cys1057Ser VAR_018970 rs121909059
2 TECTA p.Cys1619Ser VAR_018971 rs121909060
3 TECTA p.Leu1820Phe VAR_018973 rs281865415
4 TECTA p.Gly1824Asp VAR_018974 rs267607107
5 TECTA p.Cys1837Gly VAR_018975 rs121909061
6 TECTA p.Tyr1870Cys VAR_018976 rs121909058
7 TECTA p.Arg2021His VAR_018977 rs121909062
8 TECTA p.Asp197Asn VAR_066076
9 TECTA p.Phe211Ser VAR_066077
10 TECTA p.Val317Glu VAR_066078
11 TECTA p.Ser362Cys VAR_066079 rs779123206
12 TECTA p.Asn465Lys VAR_066080
13 TECTA p.Thr562Met VAR_066081 rs779401654
14 TECTA p.Thr815Met VAR_066082 rs111759871
15 TECTA p.Asn886Ser VAR_066083 rs146175803
16 TECTA p.Cys1036Tyr VAR_066084 rs772606235
17 TECTA p.Ala1098Val VAR_066085 rs761524812
18 TECTA p.Asp1136His VAR_066086 rs147890616
19 TECTA p.Pro1248Leu VAR_066087 rs138768918
20 TECTA p.Cys1509Gly VAR_066088
21 TECTA p.Cys1517Arg VAR_066089
22 TECTA p.Pro1791Arg VAR_066090 rs754213928
23 TECTA p.Cys1837Arg VAR_066091 rs121909061
24 TECTA p.Thr1866Met VAR_066092 rs140236996
25 TECTA p.His1867Arg VAR_066093
26 TECTA p.Arg1890Cys VAR_066094 rs121909063
27 TECTA p.Cys1898Arg VAR_066095
28 TECTA p.Arg1947Cys VAR_066096 rs142859879
29 TECTA p.Ile2009Thr VAR_066097

ClinVar genetic disease variations for Deafness, Autosomal Dominant 12:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 TECTA NM_005422.2(TECTA): c.5458C> T (p.Leu1820Phe) single nucleotide variant no interpretation for the single variant rs281865415 GRCh37 Chromosome 11, 121037361: 121037361
2 TECTA NM_005422.2(TECTA): c.5458C> T (p.Leu1820Phe) single nucleotide variant no interpretation for the single variant rs281865415 GRCh38 Chromosome 11, 121166652: 121166652
3 TECTA NM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys) single nucleotide variant Pathogenic rs121909058 GRCh37 Chromosome 11, 121038785: 121038785
4 TECTA NM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys) single nucleotide variant Pathogenic rs121909058 GRCh38 Chromosome 11, 121168076: 121168076
5 TECTA NM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser) single nucleotide variant Pathogenic rs121909059 GRCh37 Chromosome 11, 121008357: 121008357
6 TECTA NM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser) single nucleotide variant Pathogenic rs121909059 GRCh38 Chromosome 11, 121137648: 121137648
7 TECTA NM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser) single nucleotide variant Pathogenic rs121909060 GRCh37 Chromosome 11, 121031010: 121031010
8 TECTA NM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser) single nucleotide variant Pathogenic rs121909060 GRCh38 Chromosome 11, 121160301: 121160301
9 TECTA NM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly) single nucleotide variant Pathogenic rs121909061 GRCh37 Chromosome 11, 121037412: 121037412
10 TECTA NM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly) single nucleotide variant Pathogenic rs121909061 GRCh38 Chromosome 11, 121166703: 121166703
11 TECTA NM_005422.2(TECTA): c.6062G> A (p.Arg2021His) single nucleotide variant Uncertain significance rs121909062 GRCh37 Chromosome 11, 121058603: 121058603
12 TECTA NM_005422.2(TECTA): c.6062G> A (p.Arg2021His) single nucleotide variant Uncertain significance rs121909062 GRCh38 Chromosome 11, 121187894: 121187894
13 TECTA NM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys) single nucleotide variant Pathogenic rs121909063 GRCh37 Chromosome 11, 121038844: 121038844
14 TECTA NM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys) single nucleotide variant Pathogenic rs121909063 GRCh38 Chromosome 11, 121168135: 121168135
15 TECTA NM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg) single nucleotide variant Pathogenic rs121909061 GRCh37 Chromosome 11, 121037412: 121037412
16 TECTA NM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg) single nucleotide variant Pathogenic rs121909061 GRCh38 Chromosome 11, 121166703: 121166703
17 TECTA TECTA, 5331G-A single nucleotide variant Pathogenic
18 TECTA NM_005422.2(TECTA): c.5471G> A (p.Gly1824Asp) single nucleotide variant no interpretation for the single variant rs267607107 GRCh37 Chromosome 11, 121037374: 121037374
19 TECTA NM_005422.2(TECTA): c.5471G> A (p.Gly1824Asp) single nucleotide variant no interpretation for the single variant rs267607107 GRCh38 Chromosome 11, 121166665: 121166665
20 TECTA NM_005422.2(TECTA): c.4384C> T (p.Arg1462Cys) single nucleotide variant Uncertain significance rs727503462 GRCh37 Chromosome 11, 121028628: 121028628
21 TECTA NM_005422.2(TECTA): c.4384C> T (p.Arg1462Cys) single nucleotide variant Uncertain significance rs727503462 GRCh38 Chromosome 11, 121157919: 121157919
22 TECTA NM_005422.2(TECTA): c.1685C> T (p.Thr562Met) single nucleotide variant Uncertain significance rs779401654 GRCh38 Chromosome 11, 121125783: 121125783
23 TECTA NM_005422.2(TECTA): c.1685C> T (p.Thr562Met) single nucleotide variant Uncertain significance rs779401654 GRCh37 Chromosome 11, 120996492: 120996492
24 TECTA NM_005422.2(TECTA): c.2887G> A (p.Ala963Thr) single nucleotide variant Pathogenic rs753896285 GRCh38 Chromosome 11, 121130157: 121130157
25 TECTA NM_005422.2(TECTA): c.2887G> A (p.Ala963Thr) single nucleotide variant Pathogenic rs753896285 GRCh37 Chromosome 11, 121000866: 121000866
26 TECTA NM_005422.2(TECTA): c.5597C> T (p.Thr1866Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140236996 GRCh38 Chromosome 11, 121168064: 121168064
27 TECTA NM_005422.2(TECTA): c.5597C> T (p.Thr1866Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140236996 GRCh37 Chromosome 11, 121038773: 121038773
28 TECTA NM_005422.2(TECTA): c.6017A> G (p.Asp2006Gly) single nucleotide variant Pathogenic rs878853224 GRCh38 Chromosome 11, 121187849: 121187849
29 TECTA NM_005422.2(TECTA): c.6017A> G (p.Asp2006Gly) single nucleotide variant Pathogenic rs878853224 GRCh37 Chromosome 11, 121058558: 121058558
30 TECTA NM_005422.2(TECTA): c.3854G> C (p.Cys1285Ser) single nucleotide variant Uncertain significance rs1060499597 GRCh37 Chromosome 11, 121016574: 121016574
31 TECTA NM_005422.2(TECTA): c.3854G> C (p.Cys1285Ser) single nucleotide variant Uncertain significance rs1060499597 GRCh38 Chromosome 11, 121145865: 121145865
32 TECTA NM_005422.2(TECTA): c.1893C> A (p.Cys631Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 121127870: 121127870
33 TECTA NM_005422.2(TECTA): c.1893C> A (p.Cys631Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 120998579: 120998579

Expression for Deafness, Autosomal Dominant 12

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 12.

Pathways for Deafness, Autosomal Dominant 12

GO Terms for Deafness, Autosomal Dominant 12

Cellular components related to Deafness, Autosomal Dominant 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 8.92 COL11A2 OTOG OTOGL TECTA

Biological processes related to Deafness, Autosomal Dominant 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adult locomotory behavior GO:0008344 9.16 OTOG OTOGL
2 sensory perception of sound GO:0007605 9.1 CCDC50 COL11A2 GSDME OTOG OTOGL TECTA
3 L-arabinose metabolic process GO:0046373 8.96 OTOG OTOGL

Molecular functions related to Deafness, Autosomal Dominant 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL11A2 TECTA
2 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOG OTOGL

Sources for Deafness, Autosomal Dominant 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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38 LifeMap
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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