Version: 8.0.0
Date: Tue Jan 28 2025
12 results for col7a1l

col7a1l

(Danio rerio)
Gene
Name: collagen type VII alpha 1-like
Synonyms: cb483, si:dkey-117n7.2, col7a1b, sb:cb483, si:dkey-117n7.1
Source: ZFIN:ZDB-GENE-030131-9861
Biotype: protein coding gene
Symbol: col7a1l (Dre)
Symbol: col7a1l

COL7A1

(Homo sapiens)
Gene
Name: collagen type VII alpha 1 chain
Synonyms: collagen type VII alpha 1, EBDCT, collagen alpha-1(VII) chain, long-chain collagen, collagen, type VII, alpha 1, NDNC8, long chain collagen, LC collagen, EBD1, EBR1, collagen VII, alpha-1 polypeptide
Source: HGNC:2214
Biotype: protein coding gene
Strict Orthology Symbols: col7a1l

Col7a1

(Rattus norvegicus)
Gene
Name: collagen type VII alpha 1 chain
Synonyms: collagen alpha-1(VII) chain, procollagen, type VII, alpha 1, collagen, type VII, alpha 1, LOC301012
Source: RGD:1311417
Biotype: protein coding gene
Strict Orthology Symbols: col7a1l

col-53

(Caenorhabditis elegans)
Gene
Name: COLlagen 53
Synonyms: M01A12.1, CELE_M01A12.1
Source: WB:WBGene00000630
Biotype: protein coding gene
Strict Orthology Symbols: col7a1l

col-54

(Caenorhabditis elegans)
Gene
Name: COLlagen 54
Synonyms: CELE_F33D11.3, F33D11.3
Source: WB:WBGene00000631
Biotype: protein coding gene
Strict Orthology Symbols: col7a1l

autosomal dominant dystrophic epidermolysis bullosa

Disease
Source: DOID:0080224
Definition: An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
Genes: col7a1l (Dre)

nonsyndromic congenital nail disorder 8

Disease
Source: DOID:0080086
Definition: A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only.
Genes: col7a1l (Dre)

epidermolysis bullosa with congenital localized absence of skin and deformity of nails

Disease
Source: DOID:0111347
Definition: An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31.
Genes: col7a1l (Dre)

transient bullous dermolysis of the newborn

Disease
Source: DOID:0111345
Definition: An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.
Genes: col7a1l (Dre)

pretibial dystrophic epidermolysis bullosa

Disease
Source: DOID:0080988
Definition: An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa.
Genes: col7a1l (Dre)

epidermolysis bullosa dystrophica

Disease
Source: DOID:4959
Definition: An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
Genes: col7a1l (Dre)

sa6935

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-161003-18624
Genes: col7a1l (Dre)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: splice_donor_variant
Diseases: Not Available
Variant Name: Not Available
Genes: col7a1l (Dre)