All individuals with variants in gene EDA

247 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00058482 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058483 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058484 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058485 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058486 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058487 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058488 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058489 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058490 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058491 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058492 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058493 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058494 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058495 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058496 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058497 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058498 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - XHED hypohidrotic ectodermal dysplasia 1 1 Sigrun Maier-Wohlfart
00058821 - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - MRX;IDX The individual had non-syndromic X-linked intellectual disability with no observable clinical features noted 4 10 Thuong Ha
00059127 - PubMed: Wohlfart 2016 - - - - - - 0 - - ? - 2 1 Sigrun Maier-Wohlfart
00059128 - PubMed: Wohlfart 2016 - - - - - - 0 - - ? - 1 1 Sigrun Maier-Wohlfart
00078893 - - - M no ? (unknown) - - 0 - - ? - 1 1 Sigrun Maier-Wohlfart
00114974 - PubMed: Kere 1996 PubMed: Paakkonen 2001 - M - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114975 FamED1015 PubMed: Kere 1996 - M - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114976 - PubMed: Paakkonen 2001 - ? - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114977 - PubMed: Cluzeau 2011 - F - Algeria - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114978 - PubMed: Gunadi 2009 - M - Japan Japanese - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00114979 - PubMed: Cluzeau 2011 - F - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114980 - PubMed: Cluzeau 2011 - F - (France) French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114981 - - This patient's phenotype currently includes oligodontia and potentially sparse hair that may be within the range of normal. The patient does not meet standards for HED at this time. F no United States Caucasian - 0 - - ? Oligodontia and sparse hair 1 1 Alizabeth Woodruff
00114982 - PubMed: Cluzeau 2011 - M - (France) French - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00114983 - PubMed: Cluzeau 2011 - F - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114984 - PubMed: Bayes 1998 - - - - - - 0 - - ? - 1 1 Céline Cluzeau
00114985 - PubMed: Monreal 1998; OMIM:var0006 - - - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia 1 1 Céline Cluzeau
00114986 - PubMed: Cluzeau 2011 Familial case M - Martinique - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia 1 1 Céline Cluzeau
00114987 - PubMed: Monreal 1998; OMIM:var0005 - - - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia 1 1 Céline Cluzeau
00114988 - PubMed: Cluzeau 2011 Familial case, consanguineous M - Algeria - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia 1 1 Céline Cluzeau
00114989 - PubMed: Cluzeau 2011 - M - (France) Portuguese - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114990 - PubMed: Cluzeau 2011 - M - (France) French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114991 - PubMed: Cluzeau 2011 - M - France French - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00114992 - PubMed: Cluzeau 2011 - M - France French - 0 - - XHED Conical teeth without agenesis; Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114993 - PubMed: Cluzeau 2011 - M - (France) Japanese - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114994 - PubMed: Cluzeau 2011 - M - France French, Indian - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114995 - PubMed: Vincent 2001 - M - Tunisia - - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00114996 - PubMed: Vincent 2001 - F - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114997 - PubMed: Vincent 2001 - F - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00114998 19377345-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX 1 1 Lucy Raymond
00114999 - PubMed: Paakkonen 2001 - F - France French - 0 - - XHED Conical teeth, without agenesis in this patient; Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115000 - PubMed: Paakkonen 2001 - F - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115001 - PubMed: Bayes 1998 - M - France French - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115002 - PubMed: Bayes 1998 - M - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115003 - PubMed: Cluzeau 2011 - F - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115004 - PubMed: Cluzeau 2011 - F - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115005 - PubMed: Bayes 1998 - M - - - - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115006 - PubMed: Bayes 1998 - M - France French - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115007 - PubMed: Bayes 1998 - M - - Yemeni, Djibouti - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115008 - PubMed: Bayes 1998 - M - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115009 - PubMed: Cluzeau 2011 - M - France French - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115010 - PubMed: Cluzeau 2011 - M - (France) Congonese - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115011 - PubMed: Cluzeau 2011 - M - (France) French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115012 - PubMed: Bayes 1998 - M - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115013 - PubMed: Bayes 1998 - M - - - - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115014 - PubMed: Monreal 1998 - M yes Morocco - - 0 - - XHED Nipples hypoplasia; Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115015 - PubMed: Monreal 1998 - ? - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115016 - PubMed: Monreal 1998 - ? - - - - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115017 - PubMed: Monreal 1998 - F - France French - 0 - - XHED Hypoplasia of the right nipple; Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115018 - PubMed: Cluzeau 2011 - M - (France) French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115019 - PubMed: Cluzeau 2011 - M - (France) Japanese - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115020 - PubMed: Cluzeau 2011 - M - (France) French - 0 - - XHED Palmo-plantar keratoderma; Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115021 - PubMed: Cluzeau 2011 - M - (France) French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115022 - PubMed: Cluzeau 2011 - M - (France) French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115023 - PubMed: Vincent 2001 - M - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115024 - PubMed: Vincent 2001 - M - - - - 0 - - XHED susceptibility for pulmonary infections; Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115025 - PubMed: Vincent 2001 - M - - - - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00115026 - PubMed: Cluzeau 2011 - M - France French - 0 - - XHED Hypohidrotic Ectodermal Dysplasia, X-Linked (HED, OMIM305100) 1 1 Céline Cluzeau
00115027 - PubMed: Gunadi 2009 - M - Japan Japanese - 0 - - XHED Ectodermal Dysplasia Anhidrotic (EDA, OMIM305100) 1 1 Céline Cluzeau
00295084 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295085 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295086 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00299714 FamED19 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - ECTD - 1 1 Johan den Dunnen
00299715 FamED7 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - ECTD - 1 1 Johan den Dunnen
00299716 FamED1166 PubMed: Kere 1996 family, mother not a carrier M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299717 FamED12 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - ECTD - 1 1 Johan den Dunnen
00299718 FamED73 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - ECTD - 1 1 Johan den Dunnen
00299719 FamED1113 PubMed: Kere 1996 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299720 FamED52 PubMed: Kere 1996 - M - United Kingdom (Great Britain) - - 0 - - ECTD - 1 1 Johan den Dunnen
00299721 FamED1024 PubMed: Kere 1996 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299722 FamED1013 PubMed: Kere 1996 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299723 FamED1180 PubMed: Ferguson 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299724 FamED-D14 PubMed: Ferguson 1998 - M - United Kingdom (Great Britain) - - 0 - - ECTD - 1 1 Johan den Dunnen
00299725 FamED1129 PubMed: Ferguson 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299726 FamED1108 PubMed: Ferguson 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299727 FamED46 PubMed: Ferguson 1998 - M - United Kingdom (Great Britain) - - 0 - - ECTD - 1 1 Johan den Dunnen
00299728 FamED1013 PubMed: Ferguson 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299729 FamED1075 PubMed: Ferguson 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299730 FamED1081 PubMed: Monreal 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299731 FamED1095 PubMed: Monreal 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299732 FamED1039 PubMed: Monreal 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
00299733 FamED1011 PubMed: Monreal 1998 - M - United States - - 0 - - ECTD - 1 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »