GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Multiple Myeloma(Kahler disease)      Explore Disorder's Alias
An Somatic mutation 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 FGFR3/2261 fibroblast growth factor receptor 3 4p16.3 Chr4, NC_000004.12
(1793293..1808867)
15575 nt 19 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 BRAF/673 B-Raf proto-oncogene, serine/threonine kinase 7q34 Chr7, NC_000007.14
(140713328..140924929, complement)
211602 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 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

4 TRAF5/7188 TNF receptor associated factor 5 1q32.3 Chr1, NC_000001.11
(211326635..211374946)
48312 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 CDKN2C/1031 cyclin dependent kinase inhibitor 2C 1p32.3 Chr1, NC_000001.11
(50968706..50974634)
5929 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 BARD1/580 BRCA1 associated RING domain 1 2q35 Chr2, NC_000002.12
(214725646..214809683, complement)
84038 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 HDAC4/9759 histone deacetylase 4 2q37.3 Chr2, NC_000002.12
(239048168..239401649, complement)
353482 nt 34 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 DNMT3A/1788 DNA methyltransferase 3 alpha 2p23.3 Chr2, NC_000002.12
(25227874..25342590, complement)
114717 nt 35 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

9 TET3/200424 tet methylcytosine dioxygenase 3 2p13.1 Chr2, NC_000002.12
(73983631..74135498)
151868 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

10 CRBN/51185 cereblon 3p26.2 Chr3, NC_000003.12
(3149633..3179717, complement)
30085 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

11 MST1R/4486 macrophage stimulating 1 receptor 3p21.31 Chr3, NC_000003.12
(49887002..49903873, complement)
16872 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

12 BAP1/8314 BRCA1 associated protein 1 3p21.1 Chr3, NC_000003.12
(52401008..52410008, complement)
9001 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

13 TET2/54790 tet methylcytosine dioxygenase 2 4q24 Chr4, NC_000004.12
(105145875..105279803)
133929 nt 14 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

14 FAT1/2195 FAT atypical cadherin 1 4q35.2 Chr4, NC_000004.12
(186587794..186726696, complement)
138903 nt 29 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

15 IL7R/3575 interleukin 7 receptor 5p13.2 Chr5, NC_000005.10
(35856891..35879603)
22713 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

16 SGK1/6446 serum/glucocorticoid regulated kinase 1 6q23.2 Chr6, NC_000006.12
(134169256..134318112, complement)
148857 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

17 LATS1/9113 large tumor suppressor kinase 1 6q25.1 Chr6, NC_000006.12
(149658153..149718101, complement)
59949 nt 18 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

18 H3C1/8350 H3 clustered histone 1 6p22.2 Chr6, NC_000006.12
(26020451..26020958)
508 nt 1 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

19 H1-4/3008 H1.4 linker histone, cluster member 6p22.2 Chr6, NC_000006.12
(26156329..26157115)
787 nt 1 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

20 H2AC16/8332 H2A clustered histone 16 6p22.1 Chr6, NC_000006.12
(27865317..27865798)
482 nt 1 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

21 H2AC17/8336 H2A clustered histone 17 6p22.1 Chr6, NC_000006.12
(27892699..27893185, complement)
487 nt 1 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

22 KMT2C/58508 lysine methyltransferase 2C 7q36.1 Chr7, NC_000007.14
(152134925..152436003, complement)
301079 nt 59 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

23 RXRA/6256 retinoid X receptor alpha 9q34.2 Chr9, NC_000009.12
(134326455..134440585)
114131 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

24 YAP1/10413 Yes1 associated transcriptional regulator 11q22.1 Chr11, NC_000011.10
(102110447..102233424)
122978 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

25 ATM/472 ATM serine/threonine kinase 11q22.3 Chr11, NC_000011.10
(108223067..108369102)
146036 nt 67 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

26 SH2B3/10019 SH2B adaptor protein 3 12q24.12 Chr12, NC_000012.12
(111404730..111451623)
46894 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

27 NCOR2/9612 nuclear receptor corepressor 2 12q24.31 Chr12, NC_000012.12
(124324415..124567612, complement)
243198 nt 49 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

28 FLT3/2322 fms related receptor tyrosine kinase 3 13q12.2 Chr13, NC_000013.11
(28003274..28100576, complement)
97303 nt 27 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

29 DIS3/22894 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease 13q21.33 Chr13, NC_000013.11
(72752169..72781900, complement)
29732 nt 22 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

30 NKX2-1/7080 NK2 homeobox 1 14q13.3 Chr14, NC_000014.9
(36516397..36520232, complement)
3836 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

31 ARID4A/5926 AT-rich interaction domain 4A 14q23.1 Chr14, NC_000014.9
(58298555..58373876)
75322 nt 28 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

32 MGA/23269 MAX dimerization protein MGA 15q15.1 Chr15, NC_000015.10
(41621224..41769940)
148717 nt 28 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

33 CREBBP/1387 CREB binding protein 16p13.3 Chr16, NC_000016.10
(3725054..3880713, complement)
155660 nt 33 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

34 CYLD/1540 CYLD lysine 63 deubiquitinase 16q12.1 Chr16, NC_000016.10
(50742086..50801935)
59850 nt 23 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

35 NF1/4763 neurofibromin 1 17q11.2 Chr17, NC_000017.11
(31094927..31377677)
282751 nt 58 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

36 TCF3/6929 transcription factor 3 19p13.3 Chr19, NC_000019.10
(1609292..1652615, complement)
43324 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

37 PIK3R2/5296 phosphoinositide-3-kinase regulatory subunit 2 19p13.11 Chr19, NC_000019.10
(18153163..18170532)
17370 nt 16 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

38 ERF/2077 ETS2 repressor factor 19q13.2 Chr19, NC_000019.10
(42247569..42255128, complement)
7560 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

39 SAMHD1/25939 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 20q11.23 Chr20, NC_000020.11
(36889773..36951708, complement)
61936 nt 16 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

40 AURKA/6790 aurora kinase A 20q13.2 Chr20, NC_000020.11
(56369390..56392215, complement)
22826 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

41 BCORL1/63035 BCL6 corepressor like 1 Xq26.1 ChrX, NC_000023.11
(129980313..130058071)
77759 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

42 EIF1AX/1964 eukaryotic translation initiation factor 1A X-linked Xp22.12 ChrX, NC_000023.11
(20124525..20141838, complement)
17314 nt 7 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

43 KDM5C/8242 lysine demethylase 5C Xp11.22 ChrX, NC_000023.11
(53176277..53225207, complement)
48931 nt 29 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

44 P2RY8/286530 P2Y receptor family member 8 Xp22.33;Yp11.2 ChrX, NC_000023.11
(1462581..1537185, complement)
74605 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development