Details of Disease

General Information of Disease (ID: DISZX61P)

Disease Name Nonsyndromic genetic hearing loss
Synonyms
familial deafness; nonsyndromic genetic deafness; non-syndromic genetic deafness; isolated genetic deafness; nonsyndromic hearing loss; nonsyndromic deafness; nonsyndromic genetic hearing loss; nonsyndromic hereditary hearing loss
Definition A disease characterized by hearing loss that is not part of a larger syndrome.
Disease Hierarchy
DISKCLH4: Deafness
DISD715V: Hereditary neurological disease
DISRDGIM: Inherited auditory system disease
DISZX61P: Nonsyndromic genetic hearing loss
Disease Identifiers
MONDO ID
MONDO_0019497
UMLS CUI
C5680182
MedGen ID
1830101
Orphanet ID
87884
SNOMED CT ID
1260199008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 83 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USH1C OTFB6V34 Limited Autosomal recessive [1]
USH1G OTLM6717 Disputed Autosomal recessive [1]
WHRN OT0A9J1A Moderate Autosomal recessive [1]
GJB6 OT9QQDZB Refuted Autosomal recessive [1]
MYO1A OTS80FOD Refuted Autosomal dominant [1]
BDP1 OTJ408I9 Limited Autosomal recessive [1]
CCDC50 OTSE1YM5 Limited Autosomal dominant [1]
CDC14A OTL10OY6 Limited Autosomal recessive [1]
CRYM OTRGSR6B Limited Autosomal dominant [1]
DCDC2 OTSUFH1H Limited Autosomal recessive [1]
DIABLO OTHJ9MCZ Limited Autosomal dominant [1]
DMXL2 OTB4JWN3 Limited Autosomal dominant [1]
ELMOD3 OTLBB4DJ Limited Autosomal dominant [1]
KARS1 OT0EU4SV Limited Autosomal recessive [1]
KITLG OTB9AVQ4 Limited Autosomal dominant [1]
MCM2 OTGGORIQ Limited Autosomal dominant [1]
MET OT7K55MU Limited Autosomal recessive [1]
NARS2 OTL5X535 Limited Autosomal recessive [1]
PCDH15 OTU9C2EH Limited Autosomal recessive [1]
ROR1 OTEUYEW6 Limited Autosomal recessive [1]
SLC26A5 OTDAOST4 Limited Autosomal recessive [1]
SLC44A4 OT1HIORM Limited Autosomal dominant [1]
TBC1D24 OTKZUSMD Limited Autosomal dominant [1]
TJP2 OTQUY6BV Limited Autosomal dominant [1]
TMPRSS5 OTERB7Z4 Limited Autosomal dominant [2]
TNC OTK4FSHR Limited Autosomal dominant [1]
ADGRV1 OTLVXHHP Disputed Autosomal recessive [1]
CEMIP OTK80FYN Disputed Autosomal recessive [1]
GJA1 OTT94MKL Disputed Autosomal dominant [1]
GJB3 OTLJ59E7 Disputed Autosomal dominant [1]
MYO1F OTOAV4AR Disputed Autosomal dominant [1]
TMTC2 OTY1QWYU Disputed Autosomal dominant [1]
TSPEAR OT2LKDD0 Disputed Autosomal recessive [1]
EPS8L2 OT6OD55E Moderate Autosomal recessive [1]
GRXCR2 OT4SQDSF Moderate Autosomal recessive [1]
HGF OTGHUA23 Moderate Autosomal recessive [1]
HOMER2 OT4JGKJF Moderate Autosomal dominant [1]
MYH14 OT1TZEJK Moderate Autosomal dominant [1]
OSBPL2 OTCK671N Moderate Autosomal dominant [1]
P2RX2 OT0LF34A Moderate Autosomal dominant [1]
RIPOR2 OTXB6LIR Moderate Autosomal recessive [1]
SERPINB6 OT7G55IK Moderate Autosomal recessive [1]
SYNE4 OTFWZSV7 Moderate Autosomal recessive [1]
CEACAM16 OTUMUSY0 Strong Autosomal recessive [1]
GRHL2 OT3LF27F Strong Autosomal dominant [1]
MPZL2 OTKFNDUI Strong Autosomal recessive [1]
S1PR2 OTRTJF29 Strong Autosomal recessive [1]
ACTG1 OTH4V7VQ Definitive Autosomal dominant [1]
CABP2 OTOD9DW9 Definitive Autosomal recessive [1]
CDH23 OTOJGQ7S Definitive Autosomal recessive [1]
CIB2 OT9ZJX1I Definitive Autosomal recessive [1]
CLDN14 OTS7GKOI Definitive Autosomal recessive [1]
COCH OTBEHD89 Definitive Autosomal dominant [1]
COL11A2 OT3BQUBH Definitive Autosomal dominant [1]
ESPN OT7Z6LX2 Definitive Autosomal recessive [1]
ESRRB OT26ZBVF Definitive Autosomal recessive [1]
EYA4 OTINGR3Z Definitive Autosomal dominant [1]
GIPC3 OT8U28XD Definitive Autosomal recessive [1]
GRXCR1 OTPLNL6U Definitive Autosomal recessive [1]
ILDR1 OTQK8XLK Definitive Autosomal recessive [1]
KCNQ4 OT29B58J Definitive Autosomal dominant [1]
LHFPL5 OTNDTO5B Definitive Autosomal recessive [1]
LOXHD1 OTOJ2RHI Definitive Autosomal recessive [1]
MARVELD2 OTKB96L5 Definitive Autosomal recessive [1]
MSRB3 OT4UZXMN Definitive Autosomal recessive [1]
MYO15A OTVR4DV8 Definitive Autosomal recessive [1]
MYO3A OTPM8PHS Definitive Autosomal recessive [1]
MYO6 OTJQYRC7 Definitive Autosomal dominant [1]
MYO7A OTBZSPEL Definitive Autosomal dominant [1]
OTOA OTBTEFIE Definitive Autosomal recessive [1]
OTOG OT5U4SVN Definitive Autosomal recessive [1]
PJVK OT9S47XC Definitive Autosomal recessive [1]
POU3F4 OTKF5AF7 Definitive X-linked [1]
POU4F3 OTILD0XS Definitive Autosomal dominant [1]
RDX OTNSYUN6 Definitive Autosomal recessive [1]
SLC17A8 OTQULEQ4 Definitive Autosomal dominant [1]
SMPX OTLSHGBF Definitive X-linked [1]
STRC OT3JQYVJ Definitive Autosomal recessive [1]
TECTA OT5E0NE2 Definitive Autosomal recessive [1]
TMC1 OTHYH8MU Definitive Autosomal dominant [1]
TMIE OTQR4RRB Definitive Autosomal recessive [1]
TMPRSS3 OT0GTO1Z Definitive Autosomal recessive [1]
TPRN OTNWY6HP Definitive Autosomal recessive [1]
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⏷ Show the Full List of 83 DOT(s)
This Disease Is Related to 14 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB6 TTAU8SJ Refuted Autosomal recessive [1]
DIABLO TTN74LE Limited Autosomal dominant [1]
KITLG TTDJ51N Limited Autosomal dominant [1]
MET TTNDSF4 Limited Autosomal recessive [1]
ROR1 TTDEJAU Limited Autosomal recessive [1]
TNC TTUCPMY Limited Autosomal dominant [1]
GJA1 TT4F7SL Disputed Autosomal dominant [1]
GJB3 TTVRQ8L Disputed Autosomal dominant [1]
HGF TT4V2JM Moderate Autosomal recessive [1]
GRHL2 TTUGH4C Strong Autosomal dominant [1]
S1PR2 TTVSMOH Strong Autosomal recessive [1]
ACTG1 TTGAZF9 Definitive Autosomal dominant [1]
ESRRB TTKF0XS Definitive Autosomal recessive [1]
KCNQ4 TT8HGRW Definitive Autosomal dominant [1]
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⏷ Show the Full List of 14 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A5 DTPGHJ7 Limited Autosomal recessive [1]
SLC44A4 DT8KXR9 Limited Autosomal dominant [1]
SLC17A8 DTAGDH7 Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.