GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Acute Megakaryoblastic Leukemia(Acute megakaryocytic leukemia) 
An Unknown mode(s) within the Cancer disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 GATA1/2623 GATA binding protein 1 Xp11.23 ChrX, NC_000023.11
(48786590..48794311)
7722 nt 6 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 TP53/7157 tumor protein p53 17p13.1 Chr17, NC_000017.11
(7668421..7687490, complement)
19070 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 JAK3/3718 Janus kinase 3 19p13.11 Chr19, NC_000019.10
(17824782..17847982, complement)
23201 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 JAK1/3716 Janus kinase 1 1p31.3 Chr1, NC_000001.11
(64833229..65067746, complement)
234518 nt 30 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 SETD2/29072 SET domain containing 2, histone lysine methyltransferase 3p21.31 Chr3, NC_000003.12
(47016436..47164840, complement)
148405 nt 25 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 RAD21/5885 RAD21 cohesin complex component 8q24.11 Chr8, NC_000008.11
(116845934..116874776, complement)
28843 nt 14 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 CTCF/10664 CCCTC-binding factor 16q22.1 Chr16, NC_000016.10
(67562526..67639185)
76660 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 SUZ12/23512 SUZ12 polycomb repressive complex 2 subunit 17q11.2 Chr17, NC_000017.11
(31937007..32001038)
64032 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

9 SRSF2/6427 serine and arginine rich splicing factor 2 17q25.1 Chr17, NC_000017.11
(76734115..76737411, complement)
3297 nt 5 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:                GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development