VOWNKL
MCID: VHW001
MIFTS: 40

Vohwinkel Syndrome (VOWNKL)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Vohwinkel Syndrome

MalaCards integrated aliases for Vohwinkel Syndrome:

Name: Vohwinkel Syndrome 58 54 26 60 76 38 13 56
Mutilating Keratoderma 58 54 26 76 30 6 41
Keratoderma Hereditarium Mutilans 58 54 26 60 76
Khm 58 54 26 76
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes 58 54
Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes 26 76
Vownkl 58 76
Palmoplantar Keratoderma Mutilans Vohwinkel 26
Keratoderma Hereditarium Mutilans; Khm 58
Mutilating Keratoderma Plus Deafness 60
Mutilating Keratoderma of Vohwinkel 60
Palmoplantar Keratoderma Mutilans 26
Ppk Mutilans and Deafness 60
Ppk Mutilans Vohwinkel 26

Characteristics:

Orphanet epidemiological data:

60
keratoderma hereditarium mutilans
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , keratoderma, palmoplantar, with deafness, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,


HPO:

33
vohwinkel syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vohwinkel Syndrome

NIH Rare Diseases : 54 Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms.

MalaCards based summary : Vohwinkel Syndrome, also known as mutilating keratoderma, is related to ainhum and ichthyosis. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include skin and spinal cord, and related phenotypes are sensorineural hearing impairment and amniotic constriction ring

Genetics Home Reference : 26 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

UniProtKB/Swiss-Prot : 76 Vohwinkel syndrome: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.

Wikipedia : 77 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM: 124500

Related Diseases for Vohwinkel Syndrome

Diseases in the Vohwinkel Syndrome family:

Vohwinkel Syndrome, Variant Form

Diseases related to Vohwinkel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 ainhum 30.3 GJB2 LOR
2 ichthyosis 29.8 GJB2 LOR TGM1
3 kid syndrome 29.8 GJB2 GJB6
4 vohwinkel syndrome, variant form 12.7
5 keratoderma, palmoplantar, with deafness 11.5
6 ichthyosis, congenital, autosomal recessive 2 10.0 LOR TGM1
7 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 10.0
8 alopecia 10.0
9 mutism 10.0
10 deafness, autosomal dominant 3a 10.0
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
12 ichthyosis vulgaris 10.0 LOR TGM1
13 oculodentodigital dysplasia 10.0 GJB2 LOR
14 palmoplantar keratosis 9.9 GJB2 LOR
15 autosomal recessive congenital ichthyosis 9.9 LOR TGM1
16 deafness, autosomal dominant 24 9.8 GJB2 GJB6
17 knuckle pads 9.8 GJB2 GJB6
18 knuckle pads, leukonychia, and sensorineural deafness 9.8 GJB2 GJB6
19 deafness, x-linked 2 9.8 GJB2 GJB6
20 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB6
21 dfnb1 9.8 GJB2 GJB6
22 deafness, autosomal recessive 1a 9.8 GJB2 GJB6
23 deafness, autosomal recessive 23 9.8 GJB2 GJB6
24 congenital cytomegalovirus 9.8 GJB2 GJB6
25 vestibular disease 9.8 GJB2 GJB6
26 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
27 deafness, autosomal recessive 16 9.8 GJB2 GJB6
28 clouston syndrome 9.8 GJB2 GJB6
29 inner ear disease 9.8 GJB2 GJB6
30 keratitis, hereditary 9.7 GJB2 GJB6
31 auditory system disease 9.7 GJB2 GJB6
32 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 GJB6
33 corneal disease 9.7 GJB2 GJB6
34 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJB2 GJB6
35 ectodermal dysplasia 9.6 GJB2 GJB6
36 nonsyndromic deafness 9.6 GJB2 GJB6
37 pseudoainhum 9.5 GJB2 GJB6 LOR
38 erythrokeratodermia variabilis et progressiva 1 9.5 GJB2 GJB6 LOR
39 sensorineural hearing loss 9.4 GJB2 GJB6
40 skin disease 9.2 GJB2 GJB6 LOR TGM1

Graphical network of the top 20 diseases related to Vohwinkel Syndrome:



Diseases related to Vohwinkel Syndrome

Symptoms & Phenotypes for Vohwinkel Syndrome

Human phenotypes related to Vohwinkel Syndrome:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 amniotic constriction ring 60 33 hallmark (90%) Very frequent (99-80%) HP:0009775
3 autoamputation of digits 60 33 hallmark (90%) Very frequent (99-80%) HP:0007460
4 honeycomb palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007465
5 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
6 hypogonadotrophic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000044
7 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
8 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
9 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
10 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
11 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
12 papule 60 33 occasional (7.5%) Occasional (29-5%) HP:0200034
13 abnormal toenail morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0008388
14 abnormality of the spinal cord 60 33 occasional (7.5%) Occasional (29-5%) HP:0002143
15 hearing impairment 60 33 Occasional (29-5%) HP:0000365
16 abnormality of the nail 60 Occasional (29-5%)
17 hyperkeratosis 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
autoamputation of digits
papular keratoderma, mild
honeycomb keratoderma
starfish-like acral keratoses (knuckles)
pseudoainhum

Skeletal Hands:
circular constrictions of digits (pseudoainhum)
autoamputation

Head And Neck Ears:
hearing loss, mild to moderate

Clinical features from OMIM:

124500

Drugs & Therapeutics for Vohwinkel Syndrome

Search Clinical Trials , NIH Clinical Center for Vohwinkel Syndrome

Genetic Tests for Vohwinkel Syndrome

Genetic tests related to Vohwinkel Syndrome:

# Genetic test Affiliating Genes
1 Mutilating Keratoderma 30 GJB2

Anatomical Context for Vohwinkel Syndrome

MalaCards organs/tissues related to Vohwinkel Syndrome:

42
Skin, Spinal Cord

Publications for Vohwinkel Syndrome

Articles related to Vohwinkel Syndrome:

(show all 38)
# Title Authors Year
1
Vohwinkel syndrome: ichthyosiform variant in a family. ( 30156625 )
2018
2
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome. ( 30565282 )
2018
3
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. ( 29204395 )
2017
4
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
5
Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome. ( 26871826 )
2016
6
A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome . ( 29485809 )
2016
7
Vohwinkel syndrome with mental retardation. ( 23974601 )
2013
8
Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report. ( 24346921 )
2013
9
[Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet]. ( 23247752 )
2013
10
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome. ( 22960825 )
2012
11
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. ( 20854437 )
2011
12
A new variant of Vohwinkel syndrome: a case report. ( 21426869 )
2011
13
Vohwinkel syndrome: treatment of pseudo-ainhum. ( 20465619 )
2010
14
Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. ( 20031451 )
2010
15
Keratoderma hereditarium mutilans (Vohwinkel syndrome). ( 19282408 )
2009
16
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. ( 17953701 )
2008
17
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. ( 17106596 )
2006
18
Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. ( 17459296 )
2006
19
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 15102081 )
2004
20
Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. ( 12837696 )
2003
21
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. ( 12072018 )
2002
22
Keratoderma hereditarium mutilans (Vohwinkel syndrome): an unsolved surgical mystery. ( 11604631 )
2001
23
Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. ( 11038186 )
2000
24
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. ( 10369869 )
1999
25
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. ( 9326398 )
1997
26
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. ( 9336442 )
1997
27
Mutilating keratoderma with deaf-mutism. ( 20948071 )
1996
28
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. ( 7561409 )
1995
29
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies. ( 8010352 )
1994
30
Case report 581: Mutilating keratoderma palmaris et plantaris familiaris (with bony changes in the hands and feet). ( 2532787 )
1989
31
Mutilating keratoderma--a case report. ( 2533930 )
1989
32
Mutilating keratoderma. ( 2940194 )
1986
33
Mutilating keratoderma of Vohwinkel: successful treatment with etretinate. ( 2934494 )
1985
34
Multiple epitheliomata cuniculata occurring in a mutilating keratoderma. ( 3996038 )
1985
35
Mutilating keratoderma of Vohwinkel. ( 6227573 )
1983
36
Vohwinkel Syndrome. ( 28266412 )
1977
37
Mutilating keratoderma (Vohwinkel). ( 148003 )
1976
38
Mutilating keratoderma (a case report). ( 4658291 )
1972

Variations for Vohwinkel Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Vohwinkel Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Asp66His VAR_008710 rs104894403
2 GJB2 p.Gly130Val VAR_069522

ClinVar genetic disease variations for Vohwinkel Syndrome:

6 (show top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
2 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh37 Chromosome 13, 20763525: 20763525
3 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh38 Chromosome 13, 20189386: 20189386
4 GJB2 NM_004004.5(GJB2): c.339T> G (p.Ser113Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338946 GRCh37 Chromosome 13, 20763382: 20763382
5 GJB2 NM_004004.5(GJB2): c.339T> G (p.Ser113Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338946 GRCh38 Chromosome 13, 20189243: 20189243
6 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh37 Chromosome 13, 20762956: 20762956
7 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh38 Chromosome 13, 20188817: 20188817
8 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh37 Chromosome 13, 20762929: 20762929
9 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh38 Chromosome 13, 20188790: 20188790
10 GJB2 NM_004004.5(GJB2): c.*1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111033327 GRCh37 Chromosome 13, 20763039: 20763039
11 GJB2 NM_004004.5(GJB2): c.670A> C (p.Lys224Gln) single nucleotide variant Uncertain significance rs111033194 GRCh37 Chromosome 13, 20763051: 20763051
12 GJB2 NM_004004.5(GJB2): c.670A> C (p.Lys224Gln) single nucleotide variant Uncertain significance rs111033194 GRCh38 Chromosome 13, 20188912: 20188912
13 GJB2 NM_004004.5(GJB2): c.-15C> T single nucleotide variant Benign/Likely benign rs72561725 GRCh37 Chromosome 13, 20763735: 20763735
14 GJB2 NM_004004.5(GJB2): c.-15C> T single nucleotide variant Benign/Likely benign rs72561725 GRCh38 Chromosome 13, 20189596: 20189596
15 GJB2 NM_004004.5(GJB2): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503066 GRCh37 Chromosome 13, 20763342: 20763342
16 GJB2 NM_004004.5(GJB2): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503066 GRCh38 Chromosome 13, 20189203: 20189203
17 GJB2 NM_004004.5(GJB2): c.188T> C (p.Val63Ala) single nucleotide variant Uncertain significance rs727504309 GRCh38 Chromosome 13, 20189394: 20189394
18 GJB2 NM_004004.5(GJB2): c.188T> C (p.Val63Ala) single nucleotide variant Uncertain significance rs727504309 GRCh37 Chromosome 13, 20763533: 20763533
19 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs150529554 GRCh38 Chromosome 13, 20189227: 20189227
20 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs150529554 GRCh37 Chromosome 13, 20763366: 20763366
21 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
22 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
23 GJB2 NM_004004.5(GJB2): c.193T> C (p.Tyr65His) single nucleotide variant Pathogenic rs886037849 GRCh38 Chromosome 13, 20189389: 20189389
24 GJB2 NM_004004.5(GJB2): c.193T> C (p.Tyr65His) single nucleotide variant Pathogenic rs886037849 GRCh37 Chromosome 13, 20763528: 20763528
25 GJB2 NM_004004.5(GJB2): c.506G> A (p.Cys169Tyr) single nucleotide variant Pathogenic rs774518779 GRCh37 Chromosome 13, 20763215: 20763215
26 GJB2 NM_004004.5(GJB2): c.506G> A (p.Cys169Tyr) single nucleotide variant Pathogenic rs774518779 GRCh38 Chromosome 13, 20189076: 20189076
27 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh38 Chromosome 13, 20187695: 20187695
28 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh37 Chromosome 13, 20761834: 20761834
29 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh37 Chromosome 13, 20762926: 20762926
30 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh38 Chromosome 13, 20188787: 20188787
31 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh38 Chromosome 13, 20187704: 20187704
32 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh37 Chromosome 13, 20761843: 20761843
33 GJB2 NM_004004.5(GJB2): c.*1152G> A single nucleotide variant Benign rs7623 GRCh38 Chromosome 13, 20187749: 20187749
34 GJB2 NM_004004.5(GJB2): c.*1152G> A single nucleotide variant Benign rs7623 GRCh37 Chromosome 13, 20761888: 20761888
35 GJB2 NM_004004.5(GJB2): c.*1033G> A single nucleotide variant Likely benign rs185790172 GRCh37 Chromosome 13, 20762007: 20762007
36 GJB2 NM_004004.5(GJB2): c.*1033G> A single nucleotide variant Likely benign rs185790172 GRCh38 Chromosome 13, 20187868: 20187868
37 GJB2 NM_004004.5(GJB2): c.*1016A> G single nucleotide variant Likely benign rs537683957 GRCh37 Chromosome 13, 20762024: 20762024
38 GJB2 NM_004004.5(GJB2): c.*1016A> G single nucleotide variant Likely benign rs537683957 GRCh38 Chromosome 13, 20187885: 20187885
39 GJB2 NM_004004.5(GJB2): c.*1067G> T single nucleotide variant Benign rs9237 GRCh37 Chromosome 13, 20761973: 20761973
40 GJB2 NM_004004.5(GJB2): c.*1067G> T single nucleotide variant Benign rs9237 GRCh38 Chromosome 13, 20187834: 20187834
41 GJB2 NM_004004.5(GJB2): c.*786G> A single nucleotide variant Likely benign rs187158699 GRCh37 Chromosome 13, 20762254: 20762254
42 GJB2 NM_004004.5(GJB2): c.*786G> A single nucleotide variant Likely benign rs187158699 GRCh38 Chromosome 13, 20188115: 20188115
43 GJB2 NM_004004.5(GJB2): c.*482A> G single nucleotide variant Uncertain significance rs886050028 GRCh37 Chromosome 13, 20762558: 20762558
44 GJB2 NM_004004.5(GJB2): c.*482A> G single nucleotide variant Uncertain significance rs886050028 GRCh38 Chromosome 13, 20188419: 20188419
45 GJB2 NM_004004.5(GJB2): c.*1291_*1294delAGTA deletion Uncertain significance rs886050025 GRCh38 Chromosome 13, 20187607: 20187610
46 GJB2 NM_004004.5(GJB2): c.*1291_*1294delAGTA deletion Uncertain significance rs886050025 GRCh37 Chromosome 13, 20761746: 20761749
47 GJB2 NM_004004.5(GJB2): c.*1277T> C single nucleotide variant Benign rs7988691 GRCh38 Chromosome 13, 20187624: 20187624
48 GJB2 NM_004004.5(GJB2): c.*1277T> C single nucleotide variant Benign rs7988691 GRCh37 Chromosome 13, 20761763: 20761763
49 GJB2 NM_004004.5(GJB2): c.*979A> G single nucleotide variant Uncertain significance rs546826225 GRCh37 Chromosome 13, 20762061: 20762061
50 GJB2 NM_004004.5(GJB2): c.*979A> G single nucleotide variant Uncertain significance rs546826225 GRCh38 Chromosome 13, 20187922: 20187922

Expression for Vohwinkel Syndrome

Search GEO for disease gene expression data for Vohwinkel Syndrome.

Pathways for Vohwinkel Syndrome

Pathways related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 GJB2 GJB6

GO Terms for Vohwinkel Syndrome

Cellular components related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.16 LOR TGM1
2 gap junction GO:0005921 8.96 GJB2 GJB6
3 connexin complex GO:0005922 8.62 GJB2 GJB6

Biological processes related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.46 LOR TGM1
2 aging GO:0007568 9.43 GJB2 GJB6
3 response to lipopolysaccharide GO:0032496 9.4 GJB2 GJB6
4 sensory perception of sound GO:0007605 9.37 GJB2 GJB6
5 cornification GO:0070268 9.32 LOR TGM1
6 keratinocyte differentiation GO:0030216 9.26 LOR TGM1
7 inner ear development GO:0048839 9.16 GJB2 GJB6
8 peptide cross-linking GO:0018149 8.96 LOR TGM1
9 cell communication GO:0007154 8.62 GJB2 GJB6

Sources for Vohwinkel Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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50 NCI
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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