All individuals with variants in gene ANTXR2

17 entries on 1 page. Showing entries 1 - 17.
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00081012 - PubMed: Trujillano 2017 no information from parents - - - - - - - - HFS Hyaline fibromatosis syndrome (OMIM:228600) 1 1 Daniel Trujillano
00207306 21328543-Fam1PatII1 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Switzerland - - - - - HFS painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, no intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections 2 1 Shixu Yan
00207307 12973667-FamISH2 PMID:Dowling 2003:12973667} 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Switzerland - - - - - HFS see paper; ... 2 2 Shixu Yan
00207308 21328543-Fam2PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - HFS painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, no intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections 2 1 Shixu Yan
00207309 14508707-FamL PubMed: Hanks 2003 2-generation family, 2 affected, unaffected heterozygous carrier parents - - Switzerland - - - - - HFS see paper; ... 2 2 Shixu Yan
00207310 21328543-Fam4PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Swaziland - - - - - HFS painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections 1 1 Shixu Yan
00207312 21328543-Fam3PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Switzerland - - - - - HFS painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, intractable recurrent diarrhoea, systemic inflammatory reaction, recurrent infections 1 1 Johan den Dunnen
00207313 12973667-FamJHF2 PubMed: Dowling 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States African American - - - - HFS see paper; ... 1 1 Johan den Dunnen
00207314 12973667-FamISH1 PubMed: Dowling 2003 - F yes Turkey - - - - - HFS see paper; ... 1 1 Johan den Dunnen
00207315 12973667-FamJHF1 PubMed: Dowling 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - HFS see paper; ... 1 1 Johan den Dunnen
00293670 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00331321 11DG0848 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Bilateral talipes equinovarus, Limb joint contracture, Limitation of joint mobility, ThickeneYes 1 1 LOVD
00331322 08DG00156 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Long philtrum, Rectal prolapse, Low-set ears, Depressed nasal bridge, Micrognathia, Thin vNo 1 1 LOVD
00331323 10DG1878 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Failure to thrive, Intractable diarrhea, Limb joint contracture, Limitation of joint mobility, No 1 1 LOVD
00331324 17DG1004 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Arthrogryposis multiplex congenita, Hip dysplasia, Global developmental delay, Hypoalbu No 1 1 LOVD
00331325 12DG2105 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Arthrogryposis multiplex congenita 1 1 LOVD
00464531 Pat5 Journal: Romano 2025 - - no Italy - - - - - VMCM - 1 1 Ferruccio Romano
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