Atlas of Genetics and Cytogenetics in Oncology and Haematology


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Status of Kprones

(click on headers to sort columns)


IDDisease Name(↓)Status(↓)Created(↓) Updated(↓)OMIM
10048 Down syndrome DONE 2017-07 - 190685   
10050 Predisposition to endometrial carcinoma Need_an_author - - 608089   
10076 Familial kidney cancer Need_an_author - - -   
10086 Familial neuroblastoma Need_an_author - - 256700    613013    613014    613015    613016    613017   
10094 Familial chordoma Reserved - - 215400   
10154 Metachondromatosis Need_an_author - - 156250   
10155 Spondyloenchondro dysplasia Need_an_author - - 271550    607944   
10156 Dysspondyloenchondromatosis Need_an_author - - -   
10160 Generalized enchondromatoses Need_an_author - - 137360    166000    614569    614875   
10168 Familial lung cancer Need_an_author - - 608935   
10181 Cheirospondyloenchondromatosis Need_an_author - - -   
10112 Susceptibility to ulcerative colitis Need_an_author - - -   
10077 Isolated mucocutaneous melanotic pigmentation (IMMP) Need_an_author - - -   
10029 Familial /sporadic gastrointestinal stromal tumors (GISTs) DONE 1998-09 2000-06 606764   
10005 Naevoid basal cell carcinoma syndrome (NBCS) DONE 1997-09 - 109400   
10164 Saethre-Chotzen syndrome Need_an_author - - 101400   
10044 Bannayan-Riley-Ruvalcaba syndrome DONE 1998-11 - 153480   
10032 WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome) DONE 1999-10 - 194072   
10008 Multiple endocrine neoplasia type 1 (MEN1) DONE 2000-03 - 131100   
10009 Multiple endocrine neoplasia type 2 (MEN2) DONE 2001-01 - 171400   
10071 Glycogen storage disease type I (GSD I) DONE 2012-06 - 232200    232220    232240    232300    232400    232500    232600    232700    232800    240600    261750    306000    611556    613027   
10037 Beckwith-Wiedemann syndrome DONE 2000-11 - 130650   
10157 Genochondromatosis Need_an_author - - 137360   
10151 Enchondromatosis DONE 2008-07 - 137360    156250    166000    271550    607944   
10132 Carney triad DONE 2008-12 - 604287   
10130 Familial liver adenomatosis DONE 2006-03 - 142330   
10087 Hirschsprung's disease Need_an_author - - 142623    600155    600156,606874    606875    608462    611644    613711    613712   
10070 Second breast cancer syndrome (BRCA2) Need_an_author - - 600185   
10100 Familial tylosis DONE 2009-07 - 148500    148600   
10082 Currarino syndrome DONE 2007-06 - 176450   
10115 Melanoma-Astrocytoma syndrome DONE 2006-04 - 155755   
10064 Muir-Torre syndrome Need_an_author - - 158320   
10122 Schwannomatosis DONE 2006-08 - 162091   
10153 Maffucci syndrome DONE 2008-07 - 614569   
10158 CEBPA-associated familial acute myeloid leukemia Need_an_author - - -   
10128 Chediak-Higashi Syndrome DONE 2012-12 - 214500   
10095 Generalised basaloid follicular hamartoma syndrome Need_an_author - - 605827   
10031 Retinoblastoma DONE 1998-10 - 180200   
10169 Rombo syndrome DONE 2011-09 - 180730   
10161 Polycystic ovary syndrome / Stein-Leventhal syndrome Need_an_author - - 184700   
10103 Stiff-person syndrome DONE 2006-12 - 184850   
10180 Familial Myeloproliferative Disorders DONE 2015-09 - 187950    254450    601626   
10015 Cockayne syndrome DONE 2000-10 - 133540    216400   
10007 Neurofibromatosis type 2 (NF2) DONE 1997-09 1998-03::2001-02 101000   
10006 Neurofibromatosis type 1 (NF1) DONE 1997-09 2006-02 162200   
10012 Familial adenomatous polyposis (FAP) DONE 1998-06 - 175100   
10052 Hyperparathyroidism-Jaw tumor syndrome (HPT-JT) DONE 1999-05 - 145001   
10003 Ataxia telangiectasia (A-T) DONE 1998-04 1999-10::2002-10::2016-10 208900   
10020 Nijmegen breakage syndrome DONE 1998-10 1999-10::2002-10 251260    613078   
10013 Dysplastic nevus syndrome (DNS) DONE 1999-10 - 155600    155601   
10039 Familial chronic lymphocytic leukaemia DONE 1999-10 - 151400   
10051 Rhabdoid predisposition syndrome DONE 1999-03 2000-01::2000-02 601607    609322    13325   
10059 Familial monosomy 7 syndrome DONE 2001-07 - 252270   
10021 Rothmund-Thomson syndrome (RTS) DONE 1998-10 2001-10 268400   
10061 Multiple osteochondromas (MO) DONE 2000-01 2002-03::2008-07 133700    133701   
10129 Schinzel-Giedion midface retraction syndrome DONE 2006-04 - 269150   
10126 Pallister Hall syndrome (PHS) DONE 2007-01 - 146510   
10040 Diamond-Blackfan anemia (DBA) DONE 1999-05 2007-02 105650    205900    300946    606129    606164    610629    612527    612528    612561    612562    612563    613308    613309    614900    615550    615909   
10041 Multiple self-healing squamous epithelioma DONE 2008-09 - 132800   
10127 Hereditary multiple cutaneous leiomyomatosis DONE 2008-10 - 150800   
10166 Acrodermatitis enteropathica Need_an_author - - 201100   
10167 Mosaic variegated aneuploidy syndrome DONE 2011-12 - 257300    614114   
10018 Cowden disease DONE 2000-06 - 158350    612359    615106   
10028 X-linked lymphoproliferative disease (XLP) DONE 2012-04 - 308240    300635   
10057 Paget's disease of bone DONE 2013-04 - 602080   
10047 Familial Juvenile Polyposis Syndrome DONE 2013-05 - 174900   
10091 Birt-Hogg-Dubé syndrome (BHDS) DONE 2006-02 2014-01 135150   
10177 Hermansky-Pudlak syndrome Need_an_author - - 203300    608233    614171    614072    614073    614074    614075    614076    614077   
10046 Hemihyperplasia isolated DONE 2007-04 - 235000   
10179 Monocytopenia and mycobacterial infection syndrome Need_an_author - - 614172   
10016 Dubowitz syndrome DONE 1998-02 - 223370   
10049 Hereditary non polyposis colorectal carcinoma (HNPCC Syndrome) DONE 2001-09 - 120435    609310    613244    614337   
10121 MUTYH associated polyposis DONE 2006-05 - 132600   
10125 Mulibrey nanism DONE 2015-12 - 253250   
10137 Congenital myofibromatosis DONE 2007-09 - 228550    615293   
10146 Sjogren syndrome / Gougerot-Sjogren syndrome Need_an_author - - 270150   
10030 Piebaldism DONE 1998-09 2000-06 172800   
10147 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Need_an_author - - 175050   
10152 Ollier disease DONE 2008-07 - 166000   
10019 Epidermodysplasia verruciformis DONE 1998-06 - 226400    305350   
10075 Costello syndrome DONE 2002-04 - 218040   
10042 Trichothiodystrophy (TTD) DONE 2000-10 - 234050    601675    616390    616395   
10141 Weaver syndrome DONE 2007-12 - 277590   
10023 Bruton's agammaglobulinemia DONE 2001-01 - 300300    300755   
10073 Congenital neutropenia DONE 2002-05 - 202700    610738   
10084 LEOPARD syndrome DONE 2004-12 - 151100    611554    613707   
10011 Li-Fraumeni syndrome DONE 2000-12 - 151623    609265    609266   
10163 Plummer-Vinson syndrome (or Paterson-Kelly syndrome) Need_an_author - - -   
10097 Brooke-Spiegler syndrome DONE 2011-11 - 605041    132700    601606   
10088 Familial melanoma DONE 2005-04 - 155600    155601    608035    606719    609048    612263    613099    613972    614456    615134    615848   
10085 Noonan syndrome DONE 2005-06 - 163950    605275    609942    610733    611553    613224    613706    615355   
10065 Lhermitte-Duclos disease DONE 2001-10 - 158350   
10145 Proteus syndrome DONE 2008-04 - 176920   
10176 Dystrophic epidermolysis bullosa (Hallopeau-Siemens type) Need_an_author - - 226600   
10033 Trisomy 8 Need_an_author - - -   
10017 Werner syndrome DONE 2000-10 - 277700   
10004 Xeroderma pigmentosum DONE 2000-10 - 278700    278720    278730    278740    278750    278760    278780    278800    208900    610651    194400   
10060 Familial platelet storage pool deficiency Need_an_author - - 185050   
10026 Turcot syndrome DONE 2005-08 - 276300   
10165 familial cardiac myxoma Need_an_author - - 255960   
10102 Oligodontia-colorectal cancer syndrome / Tooth agenesis-colorectal cancer syndrome Need_an_author - - 608615   
10054 Familial breast-ovarian cancer Need_an_author - - 604370    612555    613399    614291   
10068 Hereditary pancreatic cancer DONE 2000-12 - 260350    606856    613347    613348   
10062 Hereditary breast cancer DONE 2000-11 - 114480   
10055 Hereditary prostate cancer DONE 2008-06 - 300147    601518    602759    608658    609558    610321    610997    614731   
10043 Hereditary paraganglioma (PGL) DONE 2002-02 - 115310    168000    601650    605373   
10124 Hereditary adrenocortical carcinoma Need_an_author - - 202300   
10150 Palmoplantar hyperkeratosis with a predisposition to squamous cell carcinoma of the skin and XX sex reversal Need_an_author - - 610644   
10104 Aicardi syndrome / Agenesis of corpus callosum with chorioretinal abnormality Need_an_author - - 304050   
10131 Hereditary lymphoproliferative disorders Need_an_author - - 151400    208900    240500    251260    257300    300300    300635    300755    308240    601859    603909    605233    616100    607594    613078    613493    613494    613495    613496    614114    614699    614700    615767    615577   
10171 X-linked neutropaenia Need_an_author - - 300299   
10092 MUTYH-Associated Polyposis (MAP) DONE 2006-06 - 132600   
10135 Familial thymoma / familial thymic neoplasia Need_an_author - - 274230   
10142 Holoprosencephaly-diencephalic hamartoblastoma (HDH). DONE 2007-09 - -   
10080 Carney complex (CNC) DONE 2004-08 - 160980    605244   
10119 Hereditary desmoid disease. DONE 2006-08 - 135290   
10058 Shwachman-Diamond syndrome (SDS) DONE 2005-03 - 260400   
10001 Fanconi anemia DONE 1998-02 2002-06::2016-04 227650    227645   
10116 Autoimmune lymphoproliferative syndrome DONE 2006-07 - 601859    603909    616100   
10027 Wiskott-Aldrich Syndrome (WAS) DONE 2012-01 - 301000    614493   
10056 Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) DONE 1999-12 - 112250   
10053 Hereditary papillary renal cell carcinoma DONE 1999-04 - 605074   
10067 Familial nervous system tumour syndromes DONE 2001-01 - -   
10081 Familial clear cell renal cancer DONE 2003-10 - 144700   
10111 Dianzani autoimmune lymphoproliferative disease (DALD) DONE 2006-07 - 605233   
10134 Alport syndrome and diffuse leiomyomatosis DONE 2008-12 - 308940   
10078 Hereditary diffuse gastric cancer (HDGC) DONE 2009-07 -   
10089 Waardenburg syndrome (WS) DONE 2005-02 - 148820    193500    193510    277580    600193    606662    608890    611584    613265    613266   
10022 Oculocutaneous Albinism DONE 2012-08 2015-04 203100    203200    203290    605962    606574   
10178 Familial isolated pituitary adenoma Need_an_author - - 102200   
10066 Familial medullary thyroid carcinoma Need_an_author - - 155240   
10113 Familial thyroglossal duct cyst Need_an_author - - 188455   
10117 Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism) DONE 2006-12 - 267000   
10123 Familial glioma Ask the Editor - - 137800   
10148 Menetrier disease or hypoproteinemic hypertrophic gastropathy Need_an_author - - 137280   
10133 Aplasia cutis congenita with epibulbar dermoids/ Oculoectodermal syndrome Need_an_author - - 600268   
10096 Bazex-Dupré-Christol syndrome (BDCS) DONE 2012-10 - 301845   
10136 Juvenile hyaline fibromatosis / Murray-Puretic-Drescher syndrome Need_an_author - - 228600   
10079 Familial platelet disorder with predisposition to acute myelogenous leukemia DONE 2008-07 2012-09 601399   
10036 Denys-Drash syndrome (DDS) DONE 2015-12 - 194080    136680   
10035 Frasier syndrome (FS) DONE 2007-05 - 136680   
10162 Familial paraganglioma and gastric stromal sarcoma syndrome Need_an_author - - 606864   
10107 Neuroectodermal tumors, supratentorial primitive, with cafe-au-lait spots Need_an_author - - 276300   
10118 Pheochromocytoma-islet cell tumor syndrome (variant of MEN1/MEN2) Need_an_author - - 171420   
10110 Congenital central hypoventilation syndrome / Haddad syndrome Need_an_author - - 209880   
10108 Ichthyosis, X-linked / Steroid sulfatase deficiency disease Need_an_author - - 308100   
10139 Progressive osseous heteroplasia / Familial ectopic ossification / Osteoma cutis Need_an_author - - 166350   
10072 Familial pancreatitis Need_an_author - - 167800   
10069 Variegated aneuploidy related to premature centromere division (PCD) DONE 2000-11 - 257300    614114   
10120 Glomuvenous malformation (GVM) DONE 2007-07 - 138000   
10090 Alagille syndrome (AGS) DONE 2005-10 - 118450    610205   
10093 McCune Albright syndrome DONE 2008-05 - 174800   
10105 Cartilage-hair hypoplasia (CHH) DONE 2007-10 - 250250   
10002 Bloom syndrome DONE 1998-02 2000-09::2005-02 210900   
10034 Dyskeratosis congenita (DKC) DONE 2001-08 - 127550    224230    305000    613987    613988    613989    613990    615190    616353   
10138 Schöpf-Schulz-Passarge syndrome (SSPS) DONE 2012-07 - 224750   
10106 Porokeratosis of Mibelli DONE 2008-06 - 175800   
10014 Tuberous sclerosis (TSC) DONE 2002-06 - 191092    191100   
10025 Peutz-Jeghers syndrome DONE 2002-02 2015-11 175200   
10074 Sturge Weber syndrome DONE 2004-08 - 185300   
10010 Von Hippel-Lindau DONE 1998-04 2001-01 193300   
10114 Prader Willi syndrome DONE 2008-04 - 176270   
10149 Silver Russell syndrome DONE 2008-09 - 180860    312780   
10063 Rubinstein-Taybi syndrome (RTS) DONE 2001-06 - 180849   
10144 Klippel Trenaunay syndrome DONE 2008-01 - 149000   
10038 Simpson-Golabi-Behmel syndrome DONE 2000-09 2002-05 300209    312870   
10045 Sotos syndrome (SOS) DONE 2004-10 - 117550    614753   
10109 De Sanctis-Cacchione syndrome Need_an_author - - 278800   
10083 Hereditary tyrosinemia type 1 Need_an_author - - 276700   
10024 Common variable immunodeficiency Need_an_author - - 240500    607594    613493    613494    613495    613496    614699    614700    615767    615577   
10182 Poikiloderma with Neutropenia Need_an_author - - 604173   
10170 X-linked thrombocytopaenia Need_an_author - - 313900   

 

 


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 19 13:30:56 CEST 2017

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