GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Frontotemporal Dementia(FTD)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodegenerative 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 CHMP2B/25978 charged multivesicular body protein 2B 3p11.2 Chr3, NC_000003.12
(87227309..87255556)
28248 nt 7 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 TARDBP/23435 TAR DNA binding protein 1p36.22 Chr1, NC_000001.11
(11012654..11030528)
17875 nt 10 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 MAPT/4137 microtubule associated protein tau 17q21.31 Chr17, NC_000017.11
(45894554..46028334)
133781 nt 16 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 PSEN1/5663 presenilin 1 14q24.2 Chr14, NC_000014.9
(73136417..73223691)
87275 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 VCP/7415 valosin containing protein 9p13.3 Chr9, NC_000009.12
(35056064..35072625, complement)
16562 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 C9orf72/203228 C9orf72-SMCR8 complex subunit 9p21.2 Chr9, NC_000009.12
(27546546..27573866, complement)
27321 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 CHCHD10/400916 coiled-coil-helix-coiled-coil-helix domain containing 10 22q11.23 Chr22, NC_000022.11
(23765834..23767972, complement)
2139 nt 4 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 SQSTM1/8878 sequestosome 1 5q35.3 Chr5, NC_000005.10
(179806393..179838078)
31686 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

9 TBK1/29110 TANK binding kinase 1 12q14.2 Chr12, NC_000012.12
(64452120..64502114)
49995 nt 22 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

10 GRN/2896 granulin precursor 17q21.31 Chr17, NC_000017.11
(44345302..44353106)
7805 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

11 MEF2C/4208 myocyte enhancer factor 2C 5q14.3 Chr5, NC_000005.10
(88717117..88904105, complement)
186989 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

12 CSF1R/1436 colony stimulating factor 1 receptor 5q32 Chr5, NC_000005.10
(150053295..150113365, complement)
60071 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

13 VPS13C/54832 vacuolar protein sorting 13 homolog C 15q22.2 Chr15, NC_000015.10
(61852389..62060447, complement)
208059 nt 88 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

14 ABCA7/10347 ATP binding cassette subfamily A member 7 19p13.3 Chr19, NC_000019.10
(1040107..1065572)
25466 nt 48 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

15 KIF5A/3798 kinesin family member 5A 12q13.3 Chr12, NC_000012.12
(57550044..57586633)
36590 nt 29 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

16 CCNF/899 cyclin F 16p13.3 Chr16, NC_000016.10
(2429447..2458854)
29408 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

17 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

18 TREM2/54209 triggering receptor expressed on myeloid cells 2 6p21.1 Chr6, NC_000006.12
(41158508..41163116, complement)
4609 nt 5 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

19 HNRNPA2B1/3181 heterogeneous nuclear ribonucleoprotein A2/B1 7p15.2 Chr7, NC_000007.14
(26189927..26200746, complement)
10820 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

20 OPTN/10133 optineurin 10p13 Chr10, NC_000010.11
(13100082..13138308)
38227 nt 16 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

21 CHRNB4/1143 cholinergic receptor nicotinic beta 4 subunit 15q25.1 Chr15, NC_000015.10
(78624111..78661641, complement)
37531 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

22 GLT8D1/55830 glycosyltransferase 8 domain containing 1 3p21.1 Chr3, NC_000003.12
(52694486..52705791, complement)
11306 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          Human Phenotype Ontology          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development