MCID: NNS009
MIFTS: 28

Nonsyndromic Hearing Loss and Deafness, Dfnb1

Categories: Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness, Dfnb1

MalaCards integrated aliases for Nonsyndromic Hearing Loss and Deafness, Dfnb1:

Name: Nonsyndromic Hearing Loss and Deafness, Dfnb1 25
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss and Deafness 6
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss Deafness 25

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Dfnb1

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness, Dfnb1, also known as gjb2-related dfnb 1 nonsyndromic hearing loss and deafness, is related to nonsyndromic hearing loss and dfnb1. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Dfnb1 is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Related phenotypes are hearing/vestibular/ear and no phenotypic analysis

GeneReviews: NBK1272

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Diseases related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss 29.8 GJB6 GJB3 GJB2
2 dfnb1 29.8 GJB6 GJB3 GJB2
3 branchiootic syndrome 1 10.3
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
5 nonsyndromic hearing loss and deafness, dfna3 10.0 GJB6 GJB2
6 purulent labyrinthitis 9.9 GJB6 GJB2
7 labyrinthitis 9.9 GJB6 GJB2
8 viral labyrinthitis 9.9 GJB6 GJB2
9 congenital cytomegalovirus 9.9 GJB6 GJB2
10 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.9 GJB6 GJB2
11 ichthyosis 9.9 GJB6 GJB2
12 branchiootorenal syndrome 9.8 GJB6 GJB2
13 deafness, autosomal recessive 9.8 GJB3 GJB2
14 pendred syndrome 9.8 GJB6 GJB2
15 hypotrichosis 9.8 GJB3 GJB2
16 hypotrichosis-deafness syndrome 9.8 GJB3 GJB2
17 hereditary lymphedema ic 9.8 GJB3 GJB2
18 keratitis, hereditary 9.8 GJB6 GJB2
19 erythrokeratoderma 9.8 GJB3 GJB2
20 deafness, autosomal dominant 2b 9.8 GJB3 GJB2
21 drug-induced hearing loss 9.8 GJB3 GJB2
22 deafness, autosomal recessive 91 9.8 GJB3 GJB2
23 deafness, autosomal dominant 2a 9.8 GJB3 GJB2
24 deafness, autosomal dominant 9 9.8 GJB3 GJB2
25 waardenburg's syndrome 9.7 GJB6 GJB2
26 deafness, autosomal recessive 12 9.7 GJB3 GJB2
27 palmoplantar keratosis 9.7 GJB3 GJB2
28 keratosis 9.7 GJB3 GJB2
29 nevus, epidermal 9.7 GJB3 GJB2
30 usher syndrome, type i 9.7 GJB6 GJB2
31 usher syndrome 9.6 GJB6 GJB2
32 pseudoainhum 9.5 GJB6 GJB3 GJB2
33 deafness, autosomal dominant 3b 9.5 GJB6 GJB3 GJB2
34 knuckle pads 9.5 GJB6 GJB3 GJB2
35 deafness, autosomal dominant 3a 9.5 GJB6 GJB3 GJB2
36 keratoderma, palmoplantar, with deafness 9.5 GJB6 GJB3 GJB2
37 bart-pumphrey syndrome 9.5 GJB6 GJB3 GJB2
38 deafness, autosomal recessive 1b 9.5 GJB6 GJB3 GJB2
39 palmoplantar keratoderma and congenital alopecia 1 9.5 GJB6 GJB3 GJB2
40 vestibular disease 9.5 GJB6 GJB3 GJB2
41 x-linked nonsyndromic deafness 9.5 GJB6 GJB3 GJB2
42 clouston syndrome 9.5 GJB6 GJB3 GJB2
43 oculodentodigital dysplasia 9.5 GJB6 GJB3 GJB2
44 vohwinkel syndrome 9.5 GJB6 GJB3 GJB2
45 deafness, x-linked 2 9.5 GJB6 GJB3 GJB2
46 deafness, autosomal recessive 1a 9.5 GJB6 GJB3 GJB2
47 erythrokeratodermia variabilis et progressiva 1 9.5 GJB6 GJB3 GJB2
48 auditory system disease 9.5 GJB6 GJB3 GJB2
49 inner ear disease 9.5 GJB6 GJB3 GJB2
50 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 GJB6 GJB3 GJB2

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss and Deafness, Dfnb1:



Diseases related to Nonsyndromic Hearing Loss and Deafness, Dfnb1

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness, Dfnb1

MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Dfnb1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 GJB2 GJB3 GJB6
2 no phenotypic analysis MP:0003012 8.8 GJB2 GJB3 GJB6

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Search Clinical Trials , NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Publications for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Articles related to Nonsyndromic Hearing Loss and Deafness, Dfnb1:

(show top 50) (show all 111)
# Title Authors PMID Year
1
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. 25 6
20236118 2010
2
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. 6 25
11935342 2002
3
Connexin 26 studies in patients with sensorineural hearing loss. 25 6
11556849 2001
4
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 25 6
11313763 2001
5
Prevalent connexin 26 gene (GJB2) mutations in Japanese. 25 6
10633133 2000
6
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. 25 6
10607953 2000
7
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 6 25
10376574 1999
8
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. 25 6
9819448 1998
9
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 6
31160754 2019
10
A Mayan founder mutation is a common cause of deafness in Guatemala. 6
26346709 2016
11
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
12
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. 6
24785414 2014
13
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
14
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect. 6
21776002 2011
15
A large cohort study of GJB2 mutations in Japanese hearing loss patients. 6
20497192 2010
16
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 6
19375528 2009
17
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. 6
18985073 2009
18
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. 6
19050930 2009
19
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population. 6
18925674 2008
20
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 6
17993581 2008
21
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 6
17660464 2007
22
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. 6
17935238 2007
23
The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. 6
17505205 2007
24
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. 6
17036313 2006
25
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. 6
17041943 2006
26
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. 6
16840571 2006
27
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. 6
16773579 2006
28
High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2. 6
16650079 2006
29
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? 6
16868655 2006
30
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. 6
16088916 2005
31
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. 6
15633193 2005
32
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. 6
15592461 2005
33
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. 6
15253766 2004
34
Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival. 6
15235031 2004
35
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. 6
14694360 2004
36
A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 6
14985372 2004
37
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. 6
14735592 2004
38
Elevated frequencies of the 35delG allele of the connexin 26 gene in Corsica, France. 6
14986832 2003
39
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. 6
14505035 2003
40
Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. 6
12833397 2003
41
Connexin 26 35delG does not represent a mutational hotspot. 6
12684873 2003
42
Low prevalence of the deafness-associated 35delG mutation in the connexin-26 (GJB2) gene in a Sicilian population. 6
12786762 2003
43
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. 6
12560944 2003
44
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. 6
12522556 2003
45
Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function. 6
12384501 2003
46
Selection for deafness? 6
12457154 2002
47
The prevalence of connexin 26 ( GJB2) mutations in the Chinese population. 6
12384781 2002
48
Exploring the clinical and epidemiological complexity of GJB2-linked deafness. 6
12239718 2002
49
Hearing loss: frequency and functional studies of the most common connexin26 alleles. 6
12176036 2002
50
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 6
12172392 2002

Variations for Nonsyndromic Hearing Loss and Deafness, Dfnb1

ClinVar genetic disease variations for Nonsyndromic Hearing Loss and Deafness, Dfnb1:

6 (show top 50) (show all 285)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB2 NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) Indel Pathogenic 17013 rs886037624 13:20763659-20763670 13:20189520-20189531
2 GJB2 NM_004004.6(GJB2):c.487A>G (p.Met163Val) SNV Pathogenic 21388 rs80338949 13:20763234-20763234 13:20189095-20189095
3 GJB2 NM_004004.6(GJB2):c.314_329del (p.Lys105fs) Deletion Pathogenic 211079 rs797045596 13:20763392-20763407 13:20189253-20189268
4 GJB2 NC_000013.11:g.20365207_20496559del Deletion Pathogenic 253028 13:20939346-21070698 13:20365207-20496559
5 GJB2 del(GJB6-D13S1830) Deletion Pathogenic 5546
6 GJB2 Variation Pathogenic 253027
7 GJB2 NM_004004.6(GJB2):c.176_191del (p.Gly59fs) Deletion Pathogenic 284906 rs750188782 13:20763530-20763545 13:20189391-20189406
8 GJB2 NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) SNV Pathogenic 267367 rs72561723 13:20763587-20763587 13:20189448-20189448
9 GJB2 NM_004004.6(GJB2):c.250G>A (p.Val84Met) SNV Pathogenic 17036 rs104894409 13:20763471-20763471 13:20189332-20189332
10 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 13:20797589-20797589 13:20223450-20223450
11 GJB2 NM_004004.6(GJB2):c.280_284dup (p.Ala96fs) Duplication Pathogenic 17025 rs886037625 13:20763436-20763437 13:20189297-20189298
12 GJB2 NM_004004.6(GJB2):c.72G>A (p.Trp24Ter) SNV Pathogenic 554744 rs769486081 13:20763649-20763649 13:20189510-20189510
13 GJB2 NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs) Indel Pathogenic 556762 rs1555341931 13:20763393-20763394 13:20189254-20189255
14 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203
15 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic 550195 rs371024165 13:20763627-20763627 13:20189488-20189488
16 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 13:20797589-20797589 13:20223450-20223450
17 GJB2 NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) Duplication Pathogenic 627447 rs1566528185 13:20763115-20763116 13:20188976-20188977
18 GJB3 NM_024009.3(GJB3):c.8G>A (p.Trp3Ter) SNV Pathogenic 627448 rs1557659237 1:35250371-35250371 1:34784770-34784770
19 GJB2 NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) SNV Pathogenic 631697 rs1291519904 13:20763464-20763464 13:20189325-20189325
20 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) SNV Pathogenic 5545 rs28937872 13:20797357-20797357 13:20223218-20223218
21 GJB2 NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) SNV Pathogenic 560669 rs998045226 13:20763171-20763171 13:20189032-20189032
22 GJB2 NM_004004.6(GJB2):c.137_141del (p.Asp46fs) Deletion Pathogenic 917888 13:20763580-20763584 13:20189441-20189445
23 GJB2 NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) SNV Pathogenic 195205 rs772264564 13:20763256-20763256 13:20189117-20189117
24 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
25 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
26 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) SNV Pathogenic 17003 rs104894397 13:20763492-20763492 13:20189353-20189353
27 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
28 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
29 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) Microsatellite Pathogenic 17006 rs80338947 13:20763361-20763363 13:20189222-20189224
30 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
31 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
32 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
33 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
34 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
35 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
36 GJB2 NM_004004.6(GJB2):c.250G>C (p.Val84Leu) SNV Pathogenic 17032 rs104894409 13:20763471-20763471 13:20189332-20189332
37 GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) SNV Pathogenic 44744 rs397516874 13:20763351-20763351 13:20189212-20189212
38 GJB2 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) SNV Pathogenic 188758 rs371024165 13:20763627-20763627 13:20189488-20189488
39 GJB2 NM_004004.6(GJB2):c.250G>T (p.Val84Leu) SNV Pathogenic 167134 rs104894409 13:20763471-20763471 13:20189332-20189332
40 GJB2 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) Duplication Pathogenic 188821 rs786204491 13:20763430-20763431 13:20189291-20189292
41 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581
42 GJB2 NM_004004.6(GJB2):c.299_300del (p.His100fs) Deletion Pathogenic 44736 rs111033204 13:20763421-20763422 13:20189282-20189283
43 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) Deletion Pathogenic 44737 rs111033253 13:20763395-20763408 13:20189256-20189269
44 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358
45 GJB2 NM_004004.6(GJB2):c.95G>A (p.Arg32His) SNV Pathogenic 44766 rs111033190 13:20763626-20763626 13:20189487-20189487
46 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
47 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
48 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
49 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) SNV Pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451
50 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299

Expression for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness, Dfnb1.

Pathways for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Pathways related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 GJB6 GJB3 GJB2
2
Show member pathways
12.2 GJB6 GJB3 GJB2
3
Show member pathways
11.73 GJB3 GJB2
4
Show member pathways
11.62 GJB6 GJB3 GJB2
5
Show member pathways
10.79 GJB6 GJB3 GJB2

GO Terms for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Cellular components related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.33 GJB6 GJB3 GJB2
2 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
3 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

Biological processes related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.58 GJB6 GJB3 GJB2
2 cell-cell signaling GO:0007267 9.5 GJB6 GJB3 GJB2
3 aging GO:0007568 9.48 GJB6 GJB2
4 response to lipopolysaccharide GO:0032496 9.46 GJB6 GJB2
5 sensory perception of sound GO:0007605 9.43 GJB6 GJB2
6 inner ear development GO:0048839 9.37 GJB6 GJB2
7 gap junction assembly GO:0016264 9.26 GJB6 GJB2
8 cell communication by electrical coupling GO:0010644 9.16 GJB6 GJB2
9 gap junction-mediated intercellular transport GO:1990349 8.96 GJB6 GJB2
10 cell communication GO:0007154 8.8 GJB6 GJB3 GJB2

Molecular functions related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
2 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

Sources for Nonsyndromic Hearing Loss and Deafness, Dfnb1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....