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

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]

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]

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]

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.