DFNB77
MCID: DFN108
MIFTS: 36

Deafness, Autosomal Recessive 77 (DFNB77)

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

Aliases & Classifications for Deafness, Autosomal Recessive 77

MalaCards integrated aliases for Deafness, Autosomal Recessive 77:

Name: Deafness, Autosomal Recessive 77 56 29 13 6 71
Dfnb77 56 12 73
Autosomal Recessive Nonsyndromic Deafness 77 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77 73
Deafness, Autosomal Recessive, Type 77 39
Deafness, Autosomal Recessive, 77 73
Autosomal Recessive Deafness 77 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families
onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family


HPO:

31
deafness, autosomal recessive 77:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110525
OMIM 56 613079
OMIM Phenotypic Series 56 PS220290
MeSH 43 D003638
ICD10 32 H90.3
MedGen 41 C2746083
SNOMED-CT via HPO 68 194424005 258211005
UMLS 71 C2746083

Summaries for Deafness, Autosomal Recessive 77

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 77: A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.

MalaCards based summary : Deafness, Autosomal Recessive 77, also known as dfnb77, is related to corneal dystrophy and autosomal recessive nonsyndromic deafness 36. An important gene associated with Deafness, Autosomal Recessive 77 is LOXHD1 (Lipoxygenase Homology Domains 1). Related phenotypes are bilateral sensorineural hearing impairment and Increased viability after borna disease (rVSVΔG*/BDVG) virus infection

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the LOXHD1 gene on chromosome 18q21.

More information from OMIM: 613079 PS220290

Related Diseases for Deafness, Autosomal Recessive 77

Diseases in the Rare 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
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 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 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 77 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy 10.3
2 autosomal recessive nonsyndromic deafness 36 10.2 MYO3A CDH23
3 deafness, autosomal dominant 1 10.2 MYO3A GJB2
4 deafness, autosomal recessive 61 10.1 SLC26A4 MYO3A
5 non-syndromic genetic deafness 10.1 MYO3A GJB2
6 deafness, autosomal recessive 27 10.1 TMIE PJVK
7 deafness, autosomal recessive 93 10.1 PJVK GJB2
8 deafness, autosomal recessive 67 10.0 TMIE PJVK
9 auditory neuropathy, autosomal dominant, 1 10.0 PJVK GJB2
10 deafness, autosomal recessive 79 10.0 MYO3A GJB2
11 deafness, autosomal recessive 85 10.0 TMPRSS3 PJVK
12 deafness, autosomal recessive 21 10.0 PJVK GJB2
13 labyrinthitis 10.0 SLC26A4 GJB2
14 deafness, autosomal recessive 49 10.0 PJVK GJB2
15 drug-induced hearing loss 10.0 SLC26A4 GJB2
16 deafness, autosomal dominant 20 10.0 SLC26A4 CDH23
17 deafness, autosomal dominant 56 10.0 SLC26A4 GJB2
18 baraitser-winter syndrome 10.0 SLC26A4 CDH23
19 deafness, autosomal recessive 25 10.0 TMPRSS3 PJVK
20 deafness, autosomal recessive 63 10.0 TMIE PJVK
21 ear malformation 9.9 SLC26A4 GJB2
22 deafness, autosomal dominant 11 9.9 MYO3A GJB2 CDH23
23 serous labyrinthitis 9.9 SLC26A4 GJB2
24 deafness, autosomal recessive 22 9.9 TMIE PJVK CDH23
25 deafness, autosomal dominant 41 9.8 SLC26A4 GJB2 CDH23
26 deafness, autosomal dominant 6 9.8 SLC26A4 GJB2 CDH23
27 x-linked nonsyndromic deafness 9.8 SLC26A4 GJB2
28 usher syndrome, type iia 9.8 SLC26A4 GJB2 CDH23
29 usher syndrome, type id 9.8 SLC26A4 GJB2 CDH23
30 pendred syndrome 9.8 SLC26A4 GJB2 CDH23
31 deafness, autosomal recessive 9 9.8 SLC26A4 PJVK GJB2
32 usher syndrome type 2 9.8 SLC26A4 GJB2 CDH23
33 deafness, autosomal recessive 1a 9.8 SLC26A4 PJVK GJB2
34 inner ear disease 9.8 SLC26A4 GJB2 CDH23
35 usher syndrome, type ic 9.7 TMIE GJB2 CDH23
36 peripheral vertigo 9.7 SLC26A4 GJB2
37 deafness, autosomal recessive 39 9.7 TMPRSS3 LOXHD1 GJB2
38 y-linked monogenic disease 9.7 TMPRSS3 TMIE CDH23
39 deafness, autosomal recessive 6 9.7 TMPRSS3 TMIE PJVK
40 deafness, autosomal recessive 35 9.7 TMPRSS3 TMIE PJVK
41 deafness, x-linked 2 9.6 TMIE SLC26A4 GJB2
42 erythrokeratodermia variabilis et progressiva 1 9.6 TMIE GJB2
43 deafness, autosomal recessive 13 9.6 TMPRSS3 PJVK MYO3A CDH23
44 branchiootorenal syndrome 9.5 SLC26A4 GJB2
45 deafness, autosomal recessive 83 9.5 TMPRSS3 SLC26A4 PJVK CDH23
46 deafness, autosomal recessive 8 9.4 TMPRSS3 PJVK LOXHD1 GJB2
47 deafness, autosomal recessive 16 9.4 TMIE SLC26A4 GJB2 CDH23
48 deafness, autosomal dominant 36 9.4 TMIE SLC26A4 GJB2 CDH23
49 deafness, autosomal recessive 12 9.4 TMIE SLC26A4 GJB2 CDH23
50 vestibular disease 9.3 TMPRSS3 SLC26A4 GJB2 CDH23

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 77:



Diseases related to Deafness, Autosomal Recessive 77

Symptoms & Phenotypes for Deafness, Autosomal Recessive 77

Human phenotypes related to Deafness, Autosomal Recessive 77:

31
# Description HPO Frequency HPO Source Accession
1 bilateral sensorineural hearing impairment 31 very rare (1%) HP:0008619

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, bilateral (milder hearing loss at low frequencies)

Clinical features from OMIM:

613079

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability after borna disease (rVSVΔG*/BDVG) virus infection GR00192-A 8.62 DYNLRB2 TMPRSS3

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 77:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CDH23 GJB2 MYO3A PJVK SLC26A4 TMIE
2 nervous system MP:0003631 9.23 CDH23 GJB2 MYO3A PJVK PKD1 SLC26A4

Drugs & Therapeutics for Deafness, Autosomal Recessive 77

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 77

Genetic Tests for Deafness, Autosomal Recessive 77

Genetic tests related to Deafness, Autosomal Recessive 77:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 77 29 LOXHD1

Anatomical Context for Deafness, Autosomal Recessive 77

Publications for Deafness, Autosomal Recessive 77

Articles related to Deafness, Autosomal Recessive 77:

# Title Authors PMID Year
1
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. 6 56 61
19732867 2009
2
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 6 56
21465660 2011
3
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
4
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. 61
32149082 2020
5
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. 61
31547530 2019
6
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family. 61
30760222 2019
7
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy. 61
29676012 2018
8
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1. 61
26973026 2016

Variations for Deafness, Autosomal Recessive 77

ClinVar genetic disease variations for Deafness, Autosomal Recessive 77:

6 (show top 50) (show all 263) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOXHD1 NM_144612.6(LOXHD1):c.4843G>A (p.Gly1615Arg)SNV Pathogenic 402259 rs768835732 18:44104462-44104462 18:46524499-46524499
2 LOXHD1 NM_144612.6(LOXHD1):c.2008C>T (p.Arg670Ter)SNV Pathogenic 395 rs121918370 18:44152088-44152088 18:46572125-46572125
3 LOXHD1 NM_144612.6(LOXHD1):c.4099G>T (p.Glu1367Ter)SNV Pathogenic 163910 rs373937326 18:44114411-44114411 18:46534448-46534448
4 LOXHD1 NM_144612.6(LOXHD1):c.5894dup (p.Gly1966fs)duplication Pathogenic 236044 rs878853231 18:44065083-44065084 18:46485120-46485121
5 LOXHD1 NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter)SNV Pathogenic/Likely pathogenic 291140 rs886044666 18:44219648-44219648 18:46639685-46639685
6 LOXHD1 NM_144612.6(LOXHD1):c.4480C>T (p.Arg1494Ter)SNV Pathogenic/Likely pathogenic 178396 rs201587138 18:44109190-44109190 18:46529227-46529227
7 LOXHD1 NM_144612.6(LOXHD1):c.4714C>T (p.Arg1572Ter)SNV Pathogenic/Likely pathogenic 30990 rs75949023 18:44104697-44104697 18:46524734-46524734
8 LOXHD1 NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter)SNV Pathogenic/Likely pathogenic 554146 rs961865375 18:44102147-44102147 18:46522184-46522184
9 LOXHD1 NM_144612.6(LOXHD1):c.4096-1G>CSNV Likely pathogenic 554791 rs749861944 18:44114415-44114415 18:46534452-46534452
10 LOXHD1 NM_144612.6(LOXHD1):c.46del (p.Leu16fs)deletion Likely pathogenic 813824 18:44236951-44236951 18:46656988-46656988
11 LOXHD1 NM_144612.6(LOXHD1):c.1708G>A (p.Asp570Asn)SNV Conflicting interpretations of pathogenicity 47919 rs140437150 18:44159694-44159694 18:46579731-46579731
12 LOXHD1 NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala)SNV Conflicting interpretations of pathogenicity 47920 rs35007621 18:44159660-44159660 18:46579697-46579697
13 LOXHD1 NM_144612.6(LOXHD1):c.1876G>T (p.Gly626Cys)SNV Conflicting interpretations of pathogenicity 47922 rs34589386 18:44157764-44157764 18:46577801-46577801
14 LOXHD1 NM_144612.6(LOXHD1):c.1894G>T (p.Gly632Cys)SNV Conflicting interpretations of pathogenicity 47923 rs35088381 18:44157746-44157746 18:46577783-46577783
15 LOXHD1 NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr)SNV Conflicting interpretations of pathogenicity 47924 rs35727744 18:44149569-44149569 18:46569606-46569606
16 LOXHD1 NM_144612.6(LOXHD1):c.2100G>A (p.Thr700=)SNV Conflicting interpretations of pathogenicity 47925 rs367826075 18:44149549-44149549 18:46569586-46569586
17 LOXHD1 NM_144612.6(LOXHD1):c.1970+9G>ASNV Conflicting interpretations of pathogenicity 762993 18:44157661-44157661 18:46577698-46577698
18 LOXHD1 NM_144612.6(LOXHD1):c.1323C>A (p.Thr441=)SNV Conflicting interpretations of pathogenicity 792579 18:44173671-44173671 18:46593708-46593708
19 LOXHD1 NM_144612.6(LOXHD1):c.2599-11C>TSNV Conflicting interpretations of pathogenicity 517555 rs150139569 18:44140519-44140519 18:46560556-46560556
20 LOXHD1 NM_144612.6(LOXHD1):c.1894G>A (p.Gly632Ser)SNV Conflicting interpretations of pathogenicity 517598 rs35088381 18:44157746-44157746 18:46577783-46577783
21 LOXHD1 NM_144612.6(LOXHD1):c.6084G>A (p.Arg2028=)SNV Conflicting interpretations of pathogenicity 504608 rs367833904 18:44063621-44063621 18:46483658-46483658
22 LOXHD1 NM_144612.6(LOXHD1):c.1961C>T (p.Pro654Leu)SNV Conflicting interpretations of pathogenicity 500592 rs369297699 18:44157679-44157679 18:46577716-46577716
23 LOXHD1 NM_144612.6(LOXHD1):c.1313A>G (p.Lys438Arg)SNV Conflicting interpretations of pathogenicity 517560 rs186138859 18:44173681-44173681 18:46593718-46593718
24 LOXHD1 NM_144612.6(LOXHD1):c.977A>G (p.Asn326Ser)SNV Conflicting interpretations of pathogenicity 178956 rs188528174 18:44181337-44181337 18:46601374-46601374
25 LOXHD1 NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val)SNV Conflicting interpretations of pathogenicity 178397 rs146739496 18:44113283-44113283 18:46533320-46533320
26 LOXHD1 NM_144612.6(LOXHD1):c.274G>A (p.Val92Ile)SNV Conflicting interpretations of pathogenicity 163940 rs115275492 18:44221971-44221971 18:46642008-46642008
27 LOXHD1 NM_144612.6(LOXHD1):c.6597G>A (p.Gly2199=)SNV Conflicting interpretations of pathogenicity 163883 rs115835484 18:44057474-44057474 18:46477511-46477511
28 LOXHD1 NM_144612.6(LOXHD1):c.6413G>A (p.Arg2138Gln)SNV Conflicting interpretations of pathogenicity 163884 rs148468627 18:44057658-44057658 18:46477695-46477695
29 LOXHD1 NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=)SNV Conflicting interpretations of pathogenicity 178391 rs199645176 18:44063648-44063648 18:46483685-46483685
30 LOXHD1 NM_144612.6(LOXHD1):c.5913C>T (p.Asn1971=)SNV Conflicting interpretations of pathogenicity 178392 rs146200756 18:44065065-44065065 18:46485102-46485102
31 LOXHD1 NM_144612.6(LOXHD1):c.5848G>A (p.Glu1950Lys)SNV Conflicting interpretations of pathogenicity 178393 rs79045813 18:44068950-44068950 18:46488987-46488987
32 LOXHD1 NM_144612.6(LOXHD1):c.5506+12G>ASNV Conflicting interpretations of pathogenicity 178394 rs200518261 18:44087489-44087489 18:46507526-46507526
33 LOXHD1 NM_144612.6(LOXHD1):c.5023C>T (p.Arg1675Cys)SNV Conflicting interpretations of pathogenicity 178395 rs201060702 18:44102126-44102126 18:46522163-46522163
34 LOXHD1 NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile)SNV Conflicting interpretations of pathogenicity 163902 rs140042576 18:44104483-44104483 18:46524520-46524520
35 LOXHD1 NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys)SNV Conflicting interpretations of pathogenicity 163930 rs192376005 18:44171980-44171980 18:46592017-46592017
36 LOXHD1 NM_144612.6(LOXHD1):c.1431+10G>TSNV Conflicting interpretations of pathogenicity 163932 rs57330753 18:44173553-44173553 18:46593590-46593590
37 LOXHD1 NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His)SNV Conflicting interpretations of pathogenicity 178403 rs183531840 18:44181286-44181286 18:46601323-46601323
38 LOXHD1 NM_144612.6(LOXHD1):c.966G>C (p.Gly322=)SNV Conflicting interpretations of pathogenicity 178615 rs114082868 18:44181348-44181348 18:46601385-46601385
39 LOXHD1 NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=)SNV Conflicting interpretations of pathogenicity 178400 rs112463030 18:44157797-44157797 18:46577834-46577834
40 LOXHD1 NM_144612.6(LOXHD1):c.1810-6C>ASNV Conflicting interpretations of pathogenicity 178994 rs199804946 18:44157836-44157836 18:46577873-46577873
41 LOXHD1 NM_144612.6(LOXHD1):c.611-15T>CSNV Conflicting interpretations of pathogenicity 178404 rs146912450 18:44190902-44190902 18:46610939-46610939
42 LOXHD1 NM_144612.6(LOXHD1):c.177G>A (p.Thr59=)SNV Conflicting interpretations of pathogenicity 163938 rs116413527 18:44229186-44229186 18:46649223-46649223
43 LOXHD1 NM_144612.6(LOXHD1):c.4148C>G (p.Thr1383Arg)SNV Conflicting interpretations of pathogenicity 196054 rs7244681 18:44114362-44114362 18:46534399-46534399
44 LOXHD1 NM_144612.6(LOXHD1):c.5398C>T (p.Arg1800Trp)SNV Conflicting interpretations of pathogenicity 227529 rs201994383 18:44087609-44087609 18:46507646-46507646
45 LOXHD1 NM_144612.6(LOXHD1):c.5272A>T (p.Thr1758Ser)SNV Conflicting interpretations of pathogenicity 228834 rs775871086 18:44089720-44089720 18:46509757-46509757
46 LOXHD1 NM_144612.6(LOXHD1):c.4031G>T (p.Cys1344Phe)SNV Conflicting interpretations of pathogenicity 178398 rs368870055 18:44118183-44118183 18:46538220-46538220
47 LOXHD1 NM_144612.6(LOXHD1):c.3426G>A (p.Val1142=)SNV Conflicting interpretations of pathogenicity 178399 rs200068167 18:44126946-44126946 18:46546983-46546983
48 LOXHD1 NM_144612.6(LOXHD1):c.1945G>A (p.Asp649Asn)SNV Conflicting interpretations of pathogenicity 178401 rs141932807 18:44157695-44157695 18:46577732-46577732
49 LOXHD1 NM_144612.6(LOXHD1):c.1815C>T (p.Asp605=)SNV Conflicting interpretations of pathogenicity 178402 rs201388780 18:44157825-44157825 18:46577862-46577862
50 LOXHD1 NM_144612.6(LOXHD1):c.1617G>A (p.Met539Ile)SNV Conflicting interpretations of pathogenicity 163929 rs143142227 18:44171933-44171933 18:46591970-46591970

Expression for Deafness, Autosomal Recessive 77

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 77.

Pathways for Deafness, Autosomal Recessive 77

GO Terms for Deafness, Autosomal Recessive 77

Cellular components related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 8.96 PKD1 GJB2
2 stereocilium GO:0032420 8.8 MYO3A LOXHD1 CDH23

Biological processes related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.23 TMPRSS3 TMIE SLC26A4 PJVK MYO3A LOXHD1

Sources for Deafness, Autosomal Recessive 77

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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