Disease Description

UMLS CUI C1384666
UMLS Term Hearing Impairment
MeSH ID D034381
MeSH Term Hearing Loss
Disease Classes

Otorhinolaryngologic Diseases

Nervous System Diseases

Pathological Conditions, Signs and Symptoms

Gene Symbol Description Entrez ID Uniprot ID Chromosomal Location

IQGAP2

IQ motif containing GTPase activating protein 2

10788

Q13576

chr5: 76,403,249-76,708,132

TMEM200A

transmembrane protein 200A

114801

Q86VY9

chr6: 130,365,734-130,443,063

CPN1

carboxypeptidase N subunit 1

1369

P15169

chr10: 100,042,193-100,081,877

CCBE1

collagen and calcium binding EGF domains 1

147372

Q6UXH8

chr18: 59,430,940-59,697,380

DNMT1

DNA (cytosine-5-)-methyltransferase 1

1786

P26358

chr19: 10,133,345-10,231,286

ZNF25

zinc finger protein 25

219749

P17030

chr10: 37,949,572-37,976,633

NLGN1

neuroligin 1

22871

Q8N2Q7

chr3: 173,396,284-174,286,644

MSRB3

methionine sulfoxide reductase B3

253827

Q8IXL7

chr12: 65,278,643-65,488,244

SUMF1

sulfatase modifying factor 1

285362

Q8NBK3

chr3: 3,700,814-4,467,281

SH3PXD2B

SH3 and PX domains 2B

285590

A1X283

chr5: 172,325,000-172,454,523

ZFP69

ZFP69 zinc finger protein

339559

Q49AA0

chr1: 40,477,215-40,496,343

APOE

apolipoprotein E

348

P02649

chr19: 44,905,754-44,909,393

HEG1

heart development protein with EGF-like domains 1

57493

Q9ULI3

chr3: 124,965,710-125,055,958

RPGR

retinitis pigmentosa GTPase regulator

6103

Q92834

chrX: 38,269,163-38,327,564

THADA

thyroid adenoma associated

63892

Q6YHU6

chr2: 43,230,836-43,596,046

CSMD1

CUB and Sushi multiple domains 1

64478

Q96PZ7

chr8: 2,935,353-4,994,972

TLR4

toll-like receptor 4

7099

O00206

chr9: 117,704,332-117,716,871

UQCRH

ubiquinol-cytochrome c reductase hinge protein

7388

P07919

chr1: 46,303,631-46,316,776

ACVR1B

activin A receptor type IB

91

P36896

chr12: 51,951,667-51,997,078

SLC33A1

solute carrier family 33 (acetyl-CoA transporter), member 1

9197

O00400

chr3: 155,821,024-155,854,429

TJP2

tight junction protein 2

9414

Q9UDY2

chr9: 69,121,264-69,255,208