ATS1
MCID: ALP106
MIFTS: 53

Alport Syndrome 1, X-Linked (ATS1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Alport Syndrome 1, X-Linked

MalaCards integrated aliases for Alport Syndrome 1, X-Linked:

Name: Alport Syndrome 1, X-Linked 58
Nephropathy and Deafness, X-Linked 58
Nephritis-Deafness Syndrome 76
Alport Syndrome, X-Linked 76
X-Linked Alport Syndrome 60
Nephropathy and Deafness 76
Ats1 58
Apsx 76
Ats 58

Characteristics:

Orphanet epidemiological data:

60
x-linked alport syndrome
Inheritance: X-linked dominant; Age of onset: Childhood;

OMIM:

58
Miscellaneous:
progressive disorder
genetic heterogeneity
hearing loss occurs in late childhood
about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis
males mores severely affected than females
affected males show onset of hematuria in first year of life
female carriers may show intermittent hematuria
about 15% of female carriers develop renal insufficiency in the second or third decade
estimated gene carrier frequency of 1 in 5,000

Inheritance:
x-linked dominant


HPO:

33
alport syndrome 1, x-linked:
Inheritance heterogeneous x-linked inheritance x-linked dominant inheritance
Onset and clinical course progressive


Classifications:



Summaries for Alport Syndrome 1, X-Linked

UniProtKB/Swiss-Prot : 76 Alport syndrome, X-linked: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

MalaCards based summary : Alport Syndrome 1, X-Linked, also known as nephropathy and deafness, x-linked, is related to leiomyoma and kidney disease. An important gene associated with Alport Syndrome 1, X-Linked is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, kidney and heart, and related phenotypes are hypertension and sensorineural hearing impairment

OMIM : 58 Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999). (301050)

Related Diseases for Alport Syndrome 1, X-Linked

Diseases in the X-Linked Alport Syndrome family:

Alport Syndrome 1, X-Linked

Diseases related to Alport Syndrome 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 5649)
# Related Disease Score Top Affiliating Genes
1 leiomyoma 29.6 COL4A5 COL4A6
2 kidney disease 29.3 COL4A3 COL4A4 COL4A5
3 glomerulonephritis 28.8 COL4A3 COL4A4 COL4A5
4 focal segmental glomerulosclerosis 28.1 COL4A3 COL4A4 COL4A5
5 leiomyomatosis 27.9 COL4A3 COL4A4 COL4A5 COL4A6
6 x-linked alport syndrome-diffuse leiomyomatosis 12.4
7 menarche, age at, quantitative trait locus 1 12.2
8 menopause, natural, age at, quantitative trait locus 1 12.1
9 menopause, natural, age at, quantitative trait locus 2 12.1
10 menopause, natural, age at, quantitative trait locus 4 12.1
11 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.1
12 ear antitragus, tag at base of 12.0
13 teeth present at birth 12.0
14 menarche, age at, quantitative trait locus 2 12.0
15 menarche, age at, quantitative trait locus 3 12.0
16 pulmonary fungal infections in patients deemed at risk 12.0
17 poliomyelitis in patients with immunodeficiencies deemed at risk 12.0
18 arterial tortuosity syndrome 11.9
19 ataxia-telangiectasia 11.9
20 antithrombin iii deficiency 11.8
21 ceroid lipofuscinosis, neuronal, 1 11.8
22 nijmegen breakage syndrome 11.6
23 andersen cardiodysrhythmic periodic paralysis 11.6
24 hereditary antithrombin deficiency 11.6
25 atypical teratoid rhabdoid tumor 11.6
26 ceroid lipofuscinosis, neuronal, 5 11.5
27 parkinson disease 10 11.4
28 x-linked alport syndrome 11.4
29 leiomyomatosis, diffuse, with alport syndrome 11.4
30 neural tube defects 11.3
31 fitzsimmons walson mellor syndrome 11.3
32 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy 11.3
33 ceroid lipofuscinosis, neuronal, 2 11.2
34 amme complex 11.1
35 ceroid lipofuscinosis, neuronal, 6 11.1
36 intermediate coronary syndrome 11.1
37 alport syndrome 3, autosomal dominant 11.1
38 carpal tunnel syndrome 11.1
39 depression 11.1
40 breast cancer 11.1
41 cervical cancer 11.0
42 herpes zoster 11.0
43 lupus erythematosus 11.0
44 narcolepsy 11.0
45 follicular lymphoma 11.0
46 lymphoma 11.0
47 diarrhea 11.0
48 restless legs syndrome 11.0
49 heart disease 11.0
50 genu valgum, st. helena familial 11.0

Graphical network of the top 20 diseases related to Alport Syndrome 1, X-Linked:



Diseases related to Alport Syndrome 1, X-Linked

Symptoms & Phenotypes for Alport Syndrome 1, X-Linked

Human phenotypes related to Alport Syndrome 1, X-Linked:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 sensorineural hearing impairment 33 HP:0000407
3 ichthyosis 33 HP:0008064
4 renal insufficiency 33 HP:0000083
5 proteinuria 33 HP:0000093
6 corneal erosion 33 HP:0200020
7 myopia 33 HP:0000545
8 thrombocytopenia 33 HP:0001873
9 nephrotic syndrome 33 HP:0000100
10 hypoparathyroidism 33 HP:0000829
11 diffuse leiomyomatosis 33 HP:0006756
12 stage 5 chronic kidney disease 33 HP:0003774
13 microscopic hematuria 33 HP:0002907
14 nephritis 33 HP:0000123
15 anterior lenticonus 33 HP:0011501
16 thickening of the glomerular basement membrane 33 HP:0004722
17 lenticonus 33 HP:0001142
18 diffuse glomerular basement membrane lamellation 33 HP:0030034
19 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Head And Neck Eyes:
myopia
cataracts
corneal erosions
anterior lenticonus
lens opacities
more
Head And Neck Ears:
deafness, sensorineural, especially affecting high frequencies (in about 55% of males and 45% of females)

Laboratory Abnormalities:
proteinuria
nephrotic syndrome
hematuria, gross and microscopic

Genitourinary Kidneys:
glomerulonephropathy
end-stage renal failure
thinning of the glomerular basement membrane (early in the disease)
thickening of the glomerular basement membrane (later in the disease)
splitting of the glomerular basement membrane
more

Clinical features from OMIM:

301050

MGI Mouse Phenotypes related to Alport Syndrome 1, X-Linked:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 COL4A3 COL4A4 COL4A5

Drugs & Therapeutics for Alport Syndrome 1, X-Linked

Search Clinical Trials , NIH Clinical Center for Alport Syndrome 1, X-Linked

Genetic Tests for Alport Syndrome 1, X-Linked

Anatomical Context for Alport Syndrome 1, X-Linked

MalaCards organs/tissues related to Alport Syndrome 1, X-Linked:

42
Bone, Kidney, Heart, Breast, Brain, Skin, Thyroid

Publications for Alport Syndrome 1, X-Linked

Articles related to Alport Syndrome 1, X-Linked:

(show all 22)
# Title Authors Year
1
Clinical utility gene card for: Alport syndrome. ( 22166944 )
2012
2
Yeast alpha-tubulin suppressor Ats1/Kti13 relates to the Elongator complex and interacts with Elongator partner protein Kti11. ( 18466297 )
2008
3
Cyclosporine a slows the progressive renal disease of alport syndrome (X-linked hereditary nephritis): results from a canine model. ( 12595505 )
2003
4
Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. ( 12796257 )
2003
5
ATS1 and ATS3: two novel embryo-specific genes in Arabidopsis thaliana. ( 10380802 )
1999
6
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. ( 9150741 )
1997
7
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. ( 8651292 )
1996
8
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. ( 8825605 )
1995
9
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. ( 7706490 )
1995
10
DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. ( 1330889 )
1992
11
Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. ( 1352287 )
1992
12
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. ( 1363780 )
1992
13
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. ( 1376965 )
1992
14
Alport syndrome caused by a 5' deletion within the COL4A5 gene. ( 1577459 )
1992
15
Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. ( 1598909 )
1992
16
Structure and expression of AtS1, an Arabidopsis thaliana gene homologous to the S-locus related genes of Brassica. ( 1371578 )
1992
17
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. ( 1672282 )
1991
18
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. ( 1783380 )
1991
19
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. ( 2349482 )
1990
20
X-linked inheritance of Alport syndrome: family P revisited. ( 6650503 )
1983
21
A follow-up study of hereditary chronic nephritis. ( 13582260 )
1958
22
A clinical study of hereditary interstitial pyelonephritis. ( 14856448 )
1951

Variations for Alport Syndrome 1, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome 1, X-Linked:

76 (show top 50) (show all 145)
# Symbol AA change Variation ID SNP ID
1 COL4A5 p.Gly54Asp VAR_001914 rs104886043
2 COL4A5 p.Gly129Glu VAR_001915 rs281874723
3 COL4A5 p.Gly129Val VAR_001916 rs281874723
4 COL4A5 p.Gly174Arg VAR_001917 rs104886055
5 COL4A5 p.Gly177Arg VAR_001918 rs104886056
6 COL4A5 p.Gly216Arg VAR_001919 rs104886067
7 COL4A5 p.Gly219Ser VAR_001920 rs104886075
8 COL4A5 p.Gly289Val VAR_001921 rs104886450
9 COL4A5 p.Gly292Val VAR_001922 rs104886078
10 COL4A5 p.Gly325Glu VAR_001923 rs104886091
11 COL4A5 p.Gly325Arg VAR_001924 rs104886088
12 COL4A5 p.Gly365Glu VAR_001925 rs104886096
13 COL4A5 p.Gly371Glu VAR_001927 rs104886097
14 COL4A5 p.Gly374Ala VAR_001928 rs104886108
15 COL4A5 p.Gly383Asp VAR_001929 rs104886105
16 COL4A5 p.Gly400Glu VAR_001930 rs104886107
17 COL4A5 p.Gly406Val VAR_001931 rs104886100
18 COL4A5 p.Gly409Asp VAR_001932 rs104886101
19 COL4A5 p.Gly466Glu VAR_001936 rs104886114
20 COL4A5 p.Gly494Asp VAR_001937 rs104886118
21 COL4A5 p.Gly521Cys VAR_001939 rs104886121
22 COL4A5 p.Gly521Ser VAR_001940 rs104886121
23 COL4A5 p.Gly567Ala VAR_001941 rs104886137
24 COL4A5 p.Gly609Val VAR_001942 rs104886140
25 COL4A5 p.Gly638Val VAR_001943 rs104886134
26 COL4A5 p.Gly638Ala VAR_001944 rs104886134
27 COL4A5 p.Gly653Arg VAR_001945 rs104886150
28 COL4A5 p.Gly684Val VAR_001947 rs104886160
29 COL4A5 p.Gly740Glu VAR_001948 rs104886165
30 COL4A5 p.Gly772Asp VAR_001949 rs104886173
31 COL4A5 p.Gly796Arg VAR_001950 rs104886177
32 COL4A5 p.Gly852Arg VAR_001951 rs104886186
33 COL4A5 p.Gly866Glu VAR_001952 rs104886188
34 COL4A5 p.Gly869Arg VAR_001953 rs104886189
35 COL4A5 p.Gly872Arg VAR_001954 rs104886190
36 COL4A5 p.Gly1104Val VAR_001956 rs104886224
37 COL4A5 p.Gly1143Asp VAR_001957 rs104886229
38 COL4A5 p.Gly1143Ser VAR_001958 rs104886228
39 COL4A5 p.Gly1182Arg VAR_001959 rs104886242
40 COL4A5 p.Gly1241Cys VAR_001960 rs104886255
41 COL4A5 p.Gly1270Ser VAR_001961 rs104886257
42 COL4A5 p.Gly1379Val VAR_001962 rs104886269
43 COL4A5 p.Arg1410Cys VAR_001963 rs104886270
44 COL4A5 p.Gly1421Trp VAR_001964 rs104886272
45 COL4A5 p.Arg1422Cys VAR_001965 rs144282156
46 COL4A5 p.Gly1451Ser VAR_001966 rs104886280
47 COL4A5 p.Ala1498Asp VAR_001967 rs104886284
48 COL4A5 p.Pro1517Thr VAR_001968 rs201220208
49 COL4A5 p.Trp1538Ser VAR_001969 rs104886293
50 COL4A5 p.Arg1563Gln VAR_001970 rs281874743

ClinVar genetic disease variations for Alport Syndrome 1, X-Linked:

6 (show top 50) (show all 1659)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A5 COL4A5, EX5-10DEL deletion Pathogenic
2 COL4A5 COL4A5, CYS108SER single nucleotide variant Pathogenic
3 COL4A5 COL4A5, 10-15-KB INS, 40-KB DEL indel Pathogenic
4 COL4A5 COL4A5, 450-KB DEL deletion Pathogenic
5 COL4A5 COL4A5, 38-KB DEL deletion Pathogenic
6 COL4A5 NM_000495.4(COL4A5): c.3428G> A (p.Gly1143Asp) single nucleotide variant Pathogenic rs104886229 GRCh37 Chromosome X, 107908791: 107908791
7 COL4A5 NM_000495.4(COL4A5): c.3428G> A (p.Gly1143Asp) single nucleotide variant Pathogenic rs104886229 GRCh38 Chromosome X, 108665561: 108665561
8 COL4A5 COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION deletion Pathogenic
9 COL4A5 NM_000495.4(COL4A5): c.1561G> T (p.Gly521Cys) single nucleotide variant Pathogenic rs104886121 GRCh37 Chromosome X, 107840272: 107840272
10 COL4A5 NM_000495.4(COL4A5): c.1561G> T (p.Gly521Cys) single nucleotide variant Pathogenic rs104886121 GRCh38 Chromosome X, 108597042: 108597042
11 COL4A5 NM_000495.4(COL4A5): c.974G> A (p.Gly325Glu) single nucleotide variant Pathogenic rs104886091 GRCh37 Chromosome X, 107826151: 107826151
12 COL4A5 NM_000495.4(COL4A5): c.974G> A (p.Gly325Glu) single nucleotide variant Pathogenic rs104886091 GRCh38 Chromosome X, 108582921: 108582921
13 COL4A5 NM_000495.4(COL4A5): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs104886043 GRCh37 Chromosome X, 107802313: 107802313
14 COL4A5 NM_000495.4(COL4A5): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs104886043 GRCh38 Chromosome X, 108559083: 108559083
15 COL4A5 NM_000495.4(COL4A5): c.4946T> G (p.Leu1649Arg) single nucleotide variant Pathogenic rs104886303 GRCh37 Chromosome X, 107938639: 107938639
16 COL4A5 NM_000495.4(COL4A5): c.4946T> G (p.Leu1649Arg) single nucleotide variant Pathogenic rs104886303 GRCh38 Chromosome X, 108695409: 108695409
17 COL4A5 NM_000495.4(COL4A5): c.5030G> A (p.Arg1677Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104886308 GRCh37 Chromosome X, 107939580: 107939580
18 COL4A5 NM_000495.4(COL4A5): c.5030G> A (p.Arg1677Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104886308 GRCh38 Chromosome X, 108696350: 108696350
19 COL4A5 NM_000495.4(COL4A5): c.81+1G> C single nucleotide variant Pathogenic rs281874765 GRCh37 Chromosome X, 107683437: 107683437
20 COL4A5 NM_000495.4(COL4A5): c.81+1G> C single nucleotide variant Pathogenic rs281874765 GRCh38 Chromosome X, 108440207: 108440207
21 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
22 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
23 COL4A5 NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?) deletion Pathogenic GRCh38 Chromosome X, 108310748: 108440206
24 COL4A5 NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?) deletion Pathogenic GRCh37 Chromosome X, 107553978: 107683436
25 COL4A5 NM_000495.3(COL4A5): c.1-?_81+?del deletion Pathogenic
26 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
27 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
28 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
29 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
30 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
31 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
32 COL4A5 NM_000495.4(COL4A5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104886050 GRCh37 Chromosome X, 107683356: 107683356
33 COL4A5 NM_000495.4(COL4A5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104886050 GRCh38 Chromosome X, 108440126: 108440126
34 COL4A5 NP_203699.1: p.? deletion Pathogenic
35 COL4A5 NP_203699.1: p.? deletion Pathogenic
36 COL4A5 NP_203699.1: p.? deletion Pathogenic
37 COL4A5 NP_203699.1: p.? deletion Pathogenic
38 COL4A5 NP_203699.1: p.? deletion Pathogenic
39 COL4A5 NP_203699.1: p.? deletion Pathogenic
40 COL4A5 NP_203699.1: p.? deletion Pathogenic
41 COL4A5 NM_000495.3(COL4A5): c.1-?_5058+?del deletion Pathogenic
42 COL4A5 NM_000495.4(COL4A5): c.13G> T (p.Gly5Ter) single nucleotide variant Pathogenic rs104886049 GRCh37 Chromosome X, 107683368: 107683368
43 COL4A5 NM_000495.4(COL4A5): c.13G> T (p.Gly5Ter) single nucleotide variant Pathogenic rs104886049 GRCh38 Chromosome X, 108440138: 108440138
44 COL4A5 NM_000495.4(COL4A5): c.49_50delCT (p.Leu17Glufs) deletion Pathogenic rs104886427 GRCh37 Chromosome X, 107683404: 107683405
45 COL4A5 NM_000495.4(COL4A5): c.49_50delCT (p.Leu17Glufs) deletion Pathogenic rs104886427 GRCh38 Chromosome X, 108440174: 108440175
46 COL4A5 NM_000495.4(COL4A5): c.65_77del (p.Gln22Leufs) deletion Pathogenic rs281874760 GRCh37 Chromosome X, 107683420: 107683432
47 COL4A5 NM_000495.4(COL4A5): c.65_77del (p.Gln22Leufs) deletion Pathogenic rs281874760 GRCh38 Chromosome X, 108440190: 108440202
48 COL4A5 NP_203699.1: p.Ala28_Lys1082dup duplication Pathogenic
49 COL4A5 NM_000495.4(COL4A5): c.82-?_465+?del deletion Pathogenic
50 COL4A5 NM_000495.4(COL4A5): c.82-?_1165+?del deletion Pathogenic GRCh37 Chromosome X, 107782976: 107829977

Expression for Alport Syndrome 1, X-Linked

Search GEO for disease gene expression data for Alport Syndrome 1, X-Linked.

Pathways for Alport Syndrome 1, X-Linked

Pathways related to Alport Syndrome 1, X-Linked according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 COL4A3 COL4A4 COL4A5 COL4A6
2
Show member pathways
13.04 COL4A3 COL4A4 COL4A5 COL4A6
3
Show member pathways
12.78 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.75 COL4A3 COL4A4 COL4A5 COL4A6
5
Show member pathways
12.75 COL4A3 COL4A4 COL4A5 COL4A6
6
Show member pathways
12.7 COL4A3 COL4A4 COL4A5 COL4A6
7
Show member pathways
12.63 COL4A3 COL4A4 COL4A5 COL4A6
8 12.55 COL4A3 COL4A4 COL4A5 COL4A6
9
Show member pathways
12.53 COL4A3 COL4A4 COL4A5 COL4A6
10
Show member pathways
12.43 COL4A3 COL4A4 COL4A5 COL4A6
11
Show member pathways
12.31 COL4A3 COL4A4 COL4A5 COL4A6
12
Show member pathways
11.95 COL4A3 COL4A4 COL4A5 COL4A6
13
Show member pathways
11.89 COL4A3 COL4A4 COL4A5 COL4A6
14 11.67 COL4A3 COL4A4 COL4A5 COL4A6
15 11.6 COL4A3 COL4A4 COL4A5 COL4A6
16 11.54 COL4A3 COL4A4 COL4A5
17 11.53 COL4A3 COL4A4 COL4A5 COL4A6
18 11.24 COL4A3 COL4A4 COL4A5 COL4A6
19 11.18 COL4A3 COL4A4 COL4A5
20 10.95 COL4A3 COL4A4 COL4A5 COL4A6
21 10.74 COL4A3 COL4A4 COL4A5 COL4A6
22 10.53 COL4A3 COL4A4 COL4A5 COL4A6

GO Terms for Alport Syndrome 1, X-Linked

Cellular components related to Alport Syndrome 1, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 COL4A3 COL4A4 COL4A5 COL4A6
2 extracellular space GO:0005615 9.71 COL4A3 COL4A4 COL4A5 COL4A6
3 extracellular matrix GO:0031012 9.62 COL4A3 COL4A4 COL4A5 COL4A6
4 endoplasmic reticulum lumen GO:0005788 9.56 COL4A3 COL4A4 COL4A5 COL4A6
5 collagen-containing extracellular matrix GO:0062023 9.54 COL4A3 COL4A5 COL4A6
6 basement membrane GO:0005604 9.46 COL4A3 COL4A4 COL4A5 COL4A6
7 collagen trimer GO:0005581 9.26 COL4A3 COL4A4 COL4A5 COL4A6
8 collagen type IV trimer GO:0005587 8.92 COL4A3 COL4A4 COL4A5 COL4A6

Biological processes related to Alport Syndrome 1, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.26 COL4A3 COL4A4 COL4A5 COL4A6
2 glomerular basement membrane development GO:0032836 9.16 COL4A3 COL4A4
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.8 COL4A3 COL4A5 COL4A6

Molecular functions related to Alport Syndrome 1, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL4A3 COL4A5 COL4A6
2 extracellular matrix structural constituent GO:0005201 8.92 COL4A3 COL4A4 COL4A5 COL4A6

Sources for Alport Syndrome 1, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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