| Human | SUMF1 | 285362 | sulfatase modifying factor 1 | |
| Human | TMIE | 259236 | transmembrane inner ear | The circling mouse is a potential animal model for DFNB6 deafness in humans |
| Human | SLC17A8 | 246213 | solute carrier family 17 (vesicular glutamate transporter), member 8 | SLC17A8 encodes vesicular glutamate transporter-3, VGLUT3 and its impairment has a role in nonsyndromic deafness DFNA25 and inner hair cell dysfunction |
| Human | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss nonsense mutation in the human ortholog of the murine Comt2 gene that causes nonsyndromic deafness |
| Human | DFNB33 | 170508 | deafness, autosomal recessive 33 | Maps to 9q34.3, mutation causes deafness in homozygote, found in Jordan |
| Human | MARVELD2 | 153562 | MARVEL domain containing 2 | Deafness, prelingual, profound (affects all frequencies) |
| Human | USH1G | 124590 | Usher syndrome 1G (autosomal recessive) | INFERRED, Score=800, UMLKSK CUI: C0581883 |
| Human | TMC2 | 117532 | transmembrane channel-like 2 | Autozygosity by descent analysis of 2 markers bordering the TMC2 gene allowed us to rule out its association with deafness within these families |
| Human | TMC1 | 117531 | transmembrane channel-like 1 | role of mutations causing dominant and recessive deafness |
| Human | PDB4 | 94003 | Paget disease of bone 4 | Deafness in 30-50% of patients with skull involvement |
| Human | GTPBP3 | 84705 | GTP binding protein 3 (mitochondrial) | Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3 GTPBP3 localizes in the mitochondria and is a deafness-associated homolog of yeast MSS1 |
| Human | ESPN | 83715 | espin | human deafness and vestibular dysfunction co-segregated with either of two frameshift mutations in ESPN Title:Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organization.|Association:Y|Conclusion:The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function. |
| Human | GRHL2 | 79977 | grainyhead-like 2 (Drosophila) | |
| Human | SH3TC2 | 79628 | SH3 domain and tetratricopeptide repeats 2 | |
| Human | PCDH15 | 65217 | protocadherin-related 15 | study of PCDH15 mutations in nonsyndromic deafness DFNB23 and type 1 Usher syndrome Allelic with deafness, autosomal recessive 12 ({601386}) Allelic with deafness, autosomal recessive 23 ({609533}) |
| Human | TMPRSS3 | 64699 | transmembrane protease, serine 3 | Title:Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.|Association:Y|Conclusion:From this and another study we estimate the frequency of TMPRSS3 mutations in our sample as 0.45%, and approximately 0.38% in the general Caucasian childhood deaf population. However, TMPRSS3 is still an important contributor to genetic deafness in populations with large consanguineous families. TMPRSS3 mutations contribute to fewer than 1% of nonsyndromic childhood deafness in Caucasians The TMPRSS3 protein mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro |
| Human | CDH23 | 64072 | cadherin-related 23 | Allelic with deafness, autosomal recessive 12 ({601386}) |
| Human | GJD2 | 57369 | gap junction protein, delta 2, 36kDa | 35delG mutation of the GJB2 gne is a risk for deafness |
| Human | PDSS2 | 57107 | prenyl (decaprenyl) diphosphate synthase, subunit 2 | |
| Human | ADCK3 | 56997 | aarF domain containing kinase 3 | |
| Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
| Human | TRMU | 55687 | tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase | MTO2 may act as a modifier gene, modulating the phenotypic expression of the deafness-associated A1491G or C1409T mutation in mitochondrial 12 S rRNA |
| Human | CHD7 | 55636 | chromodomain helicase DNA binding protein 7 | CHARGE acronym (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness) Deafness (sensorineural or mixed sensorineural and conductive) |
| Human | MCOLN3 | 55283 | mucolipin 3 | TRPML3(A419P) and (I362T+A419P) at physiological potentials may have a role in hair cell degeneration and deafness |
| Human | APTX | 54840 | aprataxin | |
