Sensorineural hearing impairment (Phenotype)

Phenotype:

SU004161

Synonyms:HP:0000374, HP:0001753, HP:0001916, HP:0008538, HP:0008553, HP:0008565, HP:0008576, HP:0008611, HP:0008613, HP:0008614, Hearing loss, sensorineural, Sensorineural deafness, Sensorineural hearing loss

Id:HP:0000407

Description:A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Results found

Linked to

	Label	Description
	NLRP7 Gene (Entity type)	ENSG00000275483 - NLR family pyrin domain containing 7 [Source:HGNC Symbol;Acc:HGNC:22947]
	SLC52A2 Gene (Entity type)	ENSG00000185803 - solute carrier family 52 member 2
	MYCN Gene (Entity type)	ENSG00000134323 - MYCN proto-oncogene, bHLH transcription factor
	CDH19 Gene (Entity type)	ENSG00000071991 - cadherin 19
	RAB5C Gene (Entity type)	ENSG00000108774 - RAB5C, member RAS oncogene family
	NDNF Gene (Entity type)	ENSG00000173376 - neuron derived neurotrophic factor
	KITLG Gene (Entity type)	ENSG00000049130 - KIT ligand
	LRAT Gene (Entity type)	ENSG00000121207 - lecithin retinol acyltransferase
	FAM204A Gene (Entity type)	ENSG00000165669 - family with sequence similarity 204 member A
	MT-CO1 Gene (Entity type)	ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]

NLRP7

Gene (Entity type)

ENSG00000275483 - NLR family pyrin domain containing 7 [Source:HGNC Symbol;Acc:HGNC:22947]

SLC52A2

Gene (Entity type)

ENSG00000185803 - solute carrier family 52 member 2

MYCN

Gene (Entity type)

ENSG00000134323 - MYCN proto-oncogene, bHLH transcription factor

CDH19

Gene (Entity type)

ENSG00000071991 - cadherin 19

RAB5C

Gene (Entity type)

ENSG00000108774 - RAB5C, member RAS oncogene family

NDNF

Gene (Entity type)

ENSG00000173376 - neuron derived neurotrophic factor

KITLG

Gene (Entity type)

ENSG00000049130 - KIT ligand

LRAT

Gene (Entity type)

ENSG00000121207 - lecithin retinol acyltransferase

FAM204A

Gene (Entity type)

ENSG00000165669 - family with sequence similarity 204 member A

MT-CO1

Gene (Entity type)

ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]

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Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.