DFNB71
MCID: DFN182
MIFTS: 35

Deafness, Autosomal Recessive 71 (DFNB71)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 71

MalaCards integrated aliases for Deafness, Autosomal Recessive 71:

Name: Deafness, Autosomal Recessive 71 57 13 70
Autosomal Recessive Nonsyndromic Deafness 71 12 15
Dfnb71 57 12
Autosomal Recessive Deafness 71 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
one consanguineous pakistani family has been reported (last curated may 2016)


HPO:

31
deafness, autosomal recessive 71:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110522
OMIM® 57 612789
OMIM Phenotypic Series 57 PS220290
ICD10 32 H90.3
MedGen 41 C2748554
SNOMED-CT via HPO 68 258211005
UMLS 70 C2748554

Summaries for Deafness, Autosomal Recessive 71

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.

MalaCards based summary : Deafness, Autosomal Recessive 71, also known as autosomal recessive nonsyndromic deafness 71, is related to deafness, autosomal recessive and deafness, autosomal dominant 48. An important gene associated with Deafness, Autosomal Recessive 71 is DFNB71 (Deafness, Autosomal Recessive 71), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. Related phenotypes are prelingual sensorineural hearing impairment and behavior/neurological

More information from OMIM: 612789 PS220290

Related Diseases for Deafness, Autosomal Recessive 71

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 71 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 10.9
2 deafness, autosomal dominant 48 10.3 MYO7A MYO6
3 autosomal recessive nonsyndromic deafness 3 10.2 MYO7A MYO6
4 deafness, autosomal recessive 100 10.1 MYO7A KLK15
5 metacarpal 4-5 fusion 10.1 FGF8 FGF16
6 deafness, autosomal dominant 17 10.0 MYO7A MYO6
7 stork bite 10.0 PROX1 JAG1
8 clear cell acanthoma 10.0 FGFR2 FGF10
9 deafness, autosomal recessive 62 10.0 MYO6 FGFR3
10 wolffian duct adenocarcinoma 10.0 FGFR2 CALB2
11 hemifacial hyperplasia 9.9 FGFR3 FGFR2
12 aplasia of lacrimal and salivary glands 9.9 FGFR2 FGF3 FGF10
13 testicular spermatocytic seminoma 9.9 FGFR3 FGFR2
14 hartsfield syndrome 9.9 FGFR1 FGF8
15 pleuropulmonary blastoma 9.9 FGFR2 FGF9 FGF10
16 beare-stevenson cutis gyrata syndrome 9.8 FGFR3 FGFR2 FGF16
17 dacryocystocele 9.8 FGFR3 FGFR2 FGF10
18 chronic inflammation of lacrimal passage 9.8 FGFR3 FGFR2 FGF10
19 ear malformation 9.8 SOX2 FGF3
20 acanthoma 9.8 FGFR3 FGFR2 FGF10
21 hypospadias 9.8 FGFR2 FGF8 FGF10
22 physical disorder 9.8 FGFR2 FGF8 FGF10
23 luteoma 9.7 FGFR3 FGFR2 CALB2
24 synovial chondromatosis 9.7 FGFR3 FGFR1 FGF9
25 teratoma 9.7 SOX2 FGFR3 CALB2
26 osteochondroma 9.7 FGFR3 FGFR1 FGF9
27 septooptic dysplasia 9.6 SOX2 FGFR1 FGF8
28 hepatocellular clear cell carcinoma 9.6 FGFR2 FGFR1
29 charge syndrome 9.6 SOX2 FGFR1 FGF8
30 fgfr craniosynostosis syndromes 9.5 FGFR3 FGFR2 FGFR1
31 plagiocephaly 9.5 FGFR3 FGFR2 FGFR1
32 syndromic craniosynostosis 9.5 FGFR3 FGFR2 FGFR1
33 hypertelorism, microtia, facial clefting syndrome 9.5 FGFR3 FGFR2 FGFR1
34 osteoglophonic dysplasia 9.5 FGFR3 FGFR2 FGFR1
35 radioulnar synostosis 9.5 FGFR3 FGFR2 FGFR1
36 antley-bixler syndrome 9.5 FGFR3 FGFR2 FGFR1
37 nevus, epidermal 9.5 FGFR3 FGFR2 FGFR1
38 saethre-chotzen syndrome 9.5 FGFR3 FGFR2 FGFR1
39 achondroplasia, severe, with developmental delay and acanthosis nigricans 9.4 FGFR3 FGFR2 FGFR1 FGF16
40 achondroplasia 9.4 FGFR3 FGFR2 FGFR1 FGF3
41 hypochondroplasia 9.4 FGFR3 FGFR2 FGFR1 FGF3
42 synostosis 9.3 FGFR3 FGFR2 FGFR1 FGF8
43 bone development disease 9.3 FGFR3 FGFR2 FGFR1 FGF8
44 tooth agenesis 9.3 FGFR2 FGFR1 FGF8 FGF3 FGF10
45 lung squamous cell carcinoma 9.2 SOX2 FGFR3 FGFR2 FGFR1
46 thanatophoric dysplasia, type i 9.2 FGFR3 FGFR2 FGFR1 FGF9 FGF8
47 renal hypodysplasia/aplasia 1 9.2 FGFR2 FGFR1 FGF9 FGF8 FGF20 FGF10
48 pfeiffer syndrome 9.1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
49 odontochondrodysplasia 9.1 FGFR3 FGFR2 FGFR1 FGF9 FGF8
50 sensorineural hearing loss 9.1 SOX2 MYO7A MYO6 FGFR3 FGFR1 FGF8

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 71:



Diseases related to Deafness, Autosomal Recessive 71

Symptoms & Phenotypes for Deafness, Autosomal Recessive 71

Human phenotypes related to Deafness, Autosomal Recessive 71:

31
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 31 HP:0000399

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, bilateral, profound, affecting all frequencies

Clinical features from OMIM®:

612789 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 71:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.46 CALB2 FGF10 FGF16 FGF3 FGF8 FGF9
2 growth/size/body region MP:0005378 10.41 FGF10 FGF16 FGF3 FGF8 FGF9 FGFR1
3 cellular MP:0005384 10.35 FGF10 FGF16 FGF8 FGF9 FGFR1 FGFR2
4 craniofacial MP:0005382 10.35 FGF10 FGF16 FGF8 FGF9 FGFR1 FGFR2
5 hearing/vestibular/ear MP:0005377 10.34 FGF10 FGF16 FGF20 FGF3 FGF8 FGF9
6 mortality/aging MP:0010768 10.29 FGF10 FGF16 FGF3 FGF8 FGF9 FGFR1
7 embryo MP:0005380 10.25 FGF10 FGF16 FGF3 FGF8 FGF9 FGFR1
8 nervous system MP:0003631 10.25 CALB2 FGF10 FGF20 FGF3 FGF8 FGFR1
9 digestive/alimentary MP:0005381 10.21 FGF10 FGF8 FGF9 FGFR1 FGFR2 FGFR3
10 integument MP:0010771 10.16 FGF10 FGF20 FGF9 FGFR1 FGFR2 FGFR3
11 muscle MP:0005369 10.16 FGF10 FGF16 FGF8 FGF9 FGFR1 FGFR2
12 normal MP:0002873 10.11 CALB2 FGF10 FGF3 FGF8 FGF9 FGFR1
13 limbs/digits/tail MP:0005371 10.1 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
14 no phenotypic analysis MP:0003012 10.01 FGF16 FGF3 FGFR1 FGFR2 FGFR3 JAG1
15 reproductive system MP:0005389 10 FGF10 FGF16 FGF3 FGF8 FGF9 FGFR1
16 renal/urinary system MP:0005367 9.92 FGF10 FGF8 FGF9 FGFR1 FGFR2 FGFR3
17 skeleton MP:0005390 9.73 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2
18 respiratory system MP:0005388 9.7 FGF10 FGF8 FGF9 FGFR2 FGFR3 PROX1
19 vision/eye MP:0005391 9.4 FGF10 FGF3 FGF8 FGF9 FGFR1 FGFR2

Drugs & Therapeutics for Deafness, Autosomal Recessive 71

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 71

Genetic Tests for Deafness, Autosomal Recessive 71

Anatomical Context for Deafness, Autosomal Recessive 71

Publications for Deafness, Autosomal Recessive 71

Articles related to Deafness, Autosomal Recessive 71:

# Title Authors PMID Year
1
Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3. 61 57
19229252 2009

Variations for Deafness, Autosomal Recessive 71

Expression for Deafness, Autosomal Recessive 71

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 71.

Pathways for Deafness, Autosomal Recessive 71

Pathways related to Deafness, Autosomal Recessive 71 according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.17 SOX2 MYO7A JAG1 FGFR3 FGFR2 FGFR1
2
Show member pathways
13.85 SOX2 MYO7A MYO6 FGFR3 FGFR2 FGFR1
3
Show member pathways
13.74 JAG1 FGFR3 FGFR2 FGFR1 FGF9 FGF8
4
Show member pathways
13.71 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
5
Show member pathways
13.56 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
6
Show member pathways
13.55 SOX2 FGFR3 FGFR2 FGFR1 FGF9 FGF8
7
Show member pathways
13.48 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
8
Show member pathways
13.42 SOX2 FGFR3 FGFR2 FGFR1 FGF9 FGF8
9
Show member pathways
13.39 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
10
Show member pathways
13.35 MYO7A MYO6 FGFR3 FGFR2 FGFR1 FGF8
11
Show member pathways
13.32 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
12
Show member pathways
13.31 SOX2 FGFR3 FGFR2 FGFR1 FGF8 FGF20
13
Show member pathways
13.18 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
14
Show member pathways
13.1 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
15
Show member pathways
13.09 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
16
Show member pathways
13.06 JAG1 FGFR3 FGFR2 FGFR1 FGF9 FGF8
17
Show member pathways
12.95 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
18
Show member pathways
12.93 MYO7A MYO6 FGFR3 FGFR2 FGFR1
19 12.87 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
20
Show member pathways
12.86 JAG1 FGFR2 FGFR1 FGF9 FGF8 FGF3
21 12.86 JAG1 FGFR3 FGFR2 FGFR1 FGF9 FGF8
22
Show member pathways
12.81 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
23
Show member pathways
12.79 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
24
Show member pathways
12.78 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
25
Show member pathways
12.73 JAG1 FGFR2 FGFR1 FGF9 FGF8 FGF3
26 12.68 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
27
Show member pathways
12.57 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
28
Show member pathways
12.47 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
29
Show member pathways
12.42 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
30 12.36 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
31
Show member pathways
12.34 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
32
Show member pathways
12.32 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
33 12.14 SOX2 FGFR3 FGFR2 FGFR1
34 12.1 SOX2 PROX1 FGF3 FGF10
35
Show member pathways
12.1 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
36 11.97 FGFR3 FGFR2 FGFR1 FGF8
37 11.95 PROX1 JAG1 FGFR3 FGFR2 FGFR1
38
Show member pathways
11.91 FGFR1 FGF9 FGF8 FGF20
39 11.88 SOX2 FGFR3 FGFR1 FGF8 FGF10
40 11.81 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
41
Show member pathways
11.81 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
42
Show member pathways
11.74 MYO7A MYO6 FGFR3 FGFR2 FGFR1 FGF9
43
Show member pathways
11.73 FGFR3 FGF9 FGF8 FGF20 FGF16
44 11.71 FGFR3 FGFR2 FGFR1
45 11.56 FGFR3 FGFR2 FGFR1 FGF3
46 11.51 FGFR3 FGFR2 FGFR1
47 11.09 FGFR3 FGFR2 FGFR1 FGF8 FGF20 FGF16
48 10.96 JAG1 FGFR3

GO Terms for Deafness, Autosomal Recessive 71

Cellular components related to Deafness, Autosomal Recessive 71 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 SOX2 PROX1 MYO7A MYO6 FGFR3 FGFR2
2 extracellular region GO:0005576 9.4 PDGFRL KLK15 JAG1 FGFR3 FGFR2 FGFR1

Biological processes related to Deafness, Autosomal Recessive 71 according to GeneCards Suite gene sharing:

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.21 SOX2 PROX1 JAG1 FGFR3 FGFR2 FGFR1
2 cell differentiation GO:0030154 10.19 SOX2 FGF9 FGF8 FGF3 FGF20 FGF16
3 positive regulation of gene expression GO:0010628 10.1 FGF9 FGF8 FGF3 FGF20 FGF16 FGF10
4 positive regulation of cell proliferation GO:0008284 10.02 PROX1 FGFR3 FGFR2 FGFR1 FGF9 FGF8
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.99 FGFR3 FGFR2 FGF8 FGF20 FGF10
6 positive regulation of protein phosphorylation GO:0001934 9.95 FGF9 FGF8 FGF3 FGF20 FGF16 FGF10
7 cell-cell signaling GO:0007267 9.95 FGFR3 FGFR2 FGF9 FGF3 FGF20 FGF16
8 positive regulation of MAPK cascade GO:0043410 9.91 SOX2 FGFR3 FGFR2 FGFR1 FGF9 FGF10
9 MAPK cascade GO:0000165 9.91 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
10 lung development GO:0030324 9.89 PROX1 FGFR2 FGF9 FGF8 FGF10
11 inner ear development GO:0048839 9.88 SOX2 PROX1 MYO7A JAG1
12 positive regulation of kinase activity GO:0033674 9.85 FGFR3 FGFR2 FGFR1
13 cell fate commitment GO:0045165 9.85 SOX2 FGFR2 FGF8
14 positive regulation of epithelial cell proliferation GO:0050679 9.85 FGFR2 FGF9 FGF10
15 positive regulation of cell division GO:0051781 9.85 FGFR2 FGF9 FGF8 FGF3
16 inner ear morphogenesis GO:0042472 9.85 MYO7A MYO6 FGFR2 FGF8 FGF10
17 regulation of cell migration GO:0030334 9.85 FGF9 FGF8 FGF3 FGF20 FGF16 FGF10
18 positive regulation of cell differentiation GO:0045597 9.82 SOX2 FGFR1 FGF8
19 blood vessel remodeling GO:0001974 9.81 JAG1 FGF8 FGF10
20 neuronal stem cell population maintenance GO:0097150 9.76 SOX2 PROX1 JAG1
21 animal organ morphogenesis GO:0009887 9.76 JAG1 FGFR2 FGF9 FGF8 FGF3 FGF20
22 branching involved in salivary gland morphogenesis GO:0060445 9.74 FGFR2 FGF8 FGF10
23 vesicle transport along actin filament GO:0030050 9.71 MYO7A MYO6
24 positive regulation of phospholipase activity GO:0010518 9.71 FGFR3 FGFR2 FGFR1
25 actin filament-based movement GO:0030048 9.7 MYO7A MYO6
26 cell fate determination GO:0001709 9.7 PROX1 JAG1
27 embryonic digestive tract morphogenesis GO:0048557 9.7 FGFR2 FGF10
28 aorta morphogenesis GO:0035909 9.7 JAG1 FGF8
29 inner ear auditory receptor cell differentiation GO:0042491 9.7 MYO7A MYO6 JAG1
30 endothelial cell differentiation GO:0045446 9.69 PROX1 JAG1
31 mesonephros development GO:0001823 9.69 FGF8 FGF10
32 limb bud formation GO:0060174 9.69 FGFR2 FGF10
33 otic vesicle formation GO:0030916 9.69 FGFR2 FGF8 FGF10
34 organ growth GO:0035265 9.68 FGFR2 FGF10
35 organ induction GO:0001759 9.68 FGF8 FGF10
36 endochondral bone growth GO:0003416 9.68 FGFR3 FGFR2
37 bud elongation involved in lung branching GO:0060449 9.67 FGFR2 FGF10
38 inner ear receptor cell differentiation GO:0060113 9.66 MYO7A FGF20
39 epidermis morphogenesis GO:0048730 9.66 FGFR2 FGF10
40 lacrimal gland development GO:0032808 9.65 FGFR2 FGF10
41 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.65 FGFR2 FGF10
42 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.64 FGFR1 FGF16
43 mesenchymal cell differentiation involved in lung development GO:0060915 9.62 FGFR2 FGF10
44 branch elongation involved in salivary gland morphogenesis GO:0060667 9.62 FGFR2 FGF10
45 mammary gland bud formation GO:0060615 9.61 FGFR2 FGF10
46 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.61 FGFR2 FGF10
47 positive regulation of protein kinase B signaling GO:0051897 9.61 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3
48 negative regulation of cardiac muscle tissue development GO:0055026 9.6 FGF8 FGF3
49 fibroblast growth factor receptor signaling pathway GO:0008543 9.28 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF3

Molecular functions related to Deafness, Autosomal Recessive 71 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.71 FGFR2 FGFR1 FGF9 FGF10
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.61 FGFR3 FGFR2 FGFR1
3 growth factor activity GO:0008083 9.5 JAG1 FGF9 FGF8 FGF3 FGF20 FGF16
4 fibroblast growth factor binding GO:0017134 9.43 FGFR3 FGFR2 FGFR1
5 type 2 fibroblast growth factor receptor binding GO:0005111 9.37 FGF8 FGF10
6 fibroblast growth factor-activated receptor activity GO:0005007 9.33 FGFR3 FGFR2 FGFR1
7 receptor-receptor interaction GO:0090722 9.32 FGFR1 FGF20
8 fibroblast growth factor receptor binding GO:0005104 9.1 FGF9 FGF8 FGF3 FGF20 FGF16 FGF10

Sources for Deafness, Autosomal Recessive 71

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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