GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Autism Spectrum Disorder(ASD)      Explore Disorder's Alias
An Unknown mode(s) within the Neurodevelopmental 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 TSC2/7249 TSC complex subunit 2 16p13.3 Chr16, NC_000016.10
(2047985..2089491)
41507 nt 45 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 SLC35A3/23443 solute carrier family 35 member A3 1p21.2 Chr1, NC_000001.11
(99969996..100035634)
65639 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 AUTS2/26053 activator of transcription and developmental regulator AUTS2 7q11.22 Chr7, NC_000007.14
(69598475..70793506)
1195032 nt 25 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 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

5 EHMT1/79813 euchromatic histone lysine methyltransferase 1 9q34.3 Chr9, NC_000009.12
(137619005..137836127)
217123 nt 38 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 TOP2B/7155 DNA topoisomerase II beta 3p24.2 Chr3, NC_000003.12
(25597905..25664907, complement)
67003 nt 36 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 SHANK2/22941 SH3 and multiple ankyrin repeat domains 2 11q13.3 Chr11, NC_000011.10
(70467854..71253228, complement)
785375 nt 34 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 SNRPN/6638 small nuclear ribonucleoprotein polypeptide N 15q11.2 Chr15, NC_000015.10
(24823637..24978723)
155087 nt 34 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

9 SCN2A/6326 sodium voltage-gated channel alpha subunit 2 2q24.3 Chr2, NC_000002.12
(165239414..165392304)
152891 nt 31 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

10 POGZ/23126 pogo transposable element derived with ZNF domain 1q21.3 Chr1, NC_000001.11
(151402724..151459494, complement)
56771 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

11 CNTNAP2/26047 contactin associated protein 2 7q36.1 Chr7, NC_000007.14
(146116801..148420998)
2304198 nt 25 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

12 PTEN/5728 phosphatase and tensin homolog 10q23.31 Chr10, NC_000010.11
(87863625..87971930)
108306 nt 10 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

13 HEPACAM/220296 hepatic and glial cell adhesion molecule 11q24.2 Chr11, NC_000011.10
(124919205..124936047, complement)
16843 nt 7 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

14 DEAF1/10522 DEAF1 transcription factor 11p15.5 Chr11, NC_000011.10
(644220..707083, complement)
62864 nt 19 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

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

16 SBF1/6305 SET binding factor 1 22q13.33 Chr22, NC_000022.11
(50445000..50475035, complement)
30036 nt 41 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

17 IQSEC2/23096 IQ motif and Sec7 domain ArfGEF 2 Xp11.22 ChrX, NC_000023.11
(53225813..53321350, complement)
95538 nt 23 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

18 KMT2D/8085 lysine methyltransferase 2D 12q13.12 Chr12, NC_000012.12
(49018978..49060794, complement)
41817 nt 55 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

19 UBN2/254048 ubinuclein 2 7q34 Chr7, NC_000007.14
(139231237..139330428)
99192 nt 20 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

20 MAP1B/4131 microtubule associated protein 1B 5q13.2 Chr5, NC_000005.10
(72107475..72209565)
102091 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

21 ARHGEF9/23229 Cdc42 guanine nucleotide exchange factor 9 Xq11.1 ChrX, NC_000023.11
(63634967..63785214, complement)
150248 nt 18 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

22 PTCHD1/139411 patched domain containing 1 Xp22.11 ChrX, NC_000023.11
(23334396..23404374)
69979 nt 4 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

23 SETD5/55209 SET domain containing 5 3p25.3 Chr3, NC_000003.12
(9397615..9478154)
80540 nt 31 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

24 PTPN11/5781 protein tyrosine phosphatase non-receptor type 11 12q24.13 Chr12, NC_000012.12
(112418947..112509918)
90972 nt 16 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

25 RERE/473 arginine-glutamic acid dipeptide repeats 1p36.23 Chr1, NC_000001.11
(8352404..8817640, complement)
465237 nt 25 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

26 NR4A2/4929 nuclear receptor subfamily 4 group A member 2 2q24.1 Chr2, NC_000002.12
(156324437..156332721, complement)
8285 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

27 SATB2/23314 SATB homeobox 2 2q33.1 Chr2, NC_000002.12
(199269500..199471266, complement)
201767 nt 16 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

28 WDFY3/23001 WD repeat and FYVE domain containing 3 4q21.23 Chr4, NC_000004.12
(84669597..84966690, complement)
297094 nt 74 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

29 ARID1B/57492 AT-rich interaction domain 1B 6q25.3 Chr6, NC_000006.12
(156776026..157210779)
434754 nt 26 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

30 KAT6A/7994 lysine acetyltransferase 6A 8p11.21 Chr8, NC_000008.11
(41929479..42051987, complement)
122509 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

31 STXBP1/6812 syntaxin binding protein 1 9q34.11 Chr9, NC_000009.12
(127611912..127696029)
84118 nt 25 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

32 ASXL1/171023 ASXL transcriptional regulator 1 20q11.21 Chr20, NC_000020.11
(32358331..32439319)
80989 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

33 ADNP/23394 activity dependent neuroprotector homeobox 20q13.13 Chr20, NC_000020.11
(50888918..50931437, complement)
42520 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

34 ACTL6B/51412 actin like 6B 7q22.1 Chr7, NC_000007.14
(100643097..100656448, complement)
13352 nt 14 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

35 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

36 CNTN6/27255 contactin 6 3p26.3 Chr3, NC_000003.12
(1093024..1404217)
311194 nt 30 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

37 CIC/23152 capicua transcriptional repressor 19q13.2 Chr19, NC_000019.10
(42268530..42295796)
27267 nt 27 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

38 CHD2/1106 chromodomain helicase DNA binding protein 2 15q26.1 Chr15, NC_000015.10
(92900324..93027996)
127673 nt 39 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

39 CSNK2B/1460 casein kinase 2 beta 6p21.33 Chr6, NC_000006.12
(31666080..31670067)
3988 nt 7 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

40 KDM6A/7403 lysine demethylase 6A Xp11.3 ChrX, NC_000023.11
(44873188..45112779)
239592 nt 33 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

41 DYNC1H1/1778 dynein cytoplasmic 1 heavy chain 1 14q32.31 Chr14, NC_000014.9
(101964573..102056443)
91871 nt 78 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

42 KCNMA1/3778 potassium calcium-activated channel subfamily M alpha 1 10q22.3 Chr10, NC_000010.11
(76869602..77637808, complement)
768207 nt 45 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

43 EED/8726 embryonic ectoderm development 11q14.2 Chr11, NC_000011.10
(86244753..86287615)
42863 nt 15 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

44 MECP2/4204 methyl-CpG binding protein 2 Xq28 ChrX, NC_000023.11
(154021573..154097717, complement)
76145 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

45 DCC/1630 DCC netrin 1 receptor 18q21.2 Chr18, NC_000018.10
(52340197..53535899)
1195703 nt 31 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

46 TCF20/6942 transcription factor 20 22q13.2 Chr22, NC_000022.11
(42160013..42343537, complement)
183525 nt 9 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

47 NR2F1/7025 nuclear receptor subfamily 2 group F member 1 5q15 Chr5, NC_000005.10
(93583222..93594611)
11390 nt 4 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

48 KDM5B/10765 lysine demethylase 5B 1q32.1 Chr1, NC_000001.11
(202724495..202808421, complement)
83927 nt 30 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

49 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

50 CEP104/9731 centrosomal protein 104 1p36.32 Chr1, NC_000001.11
(3812086..3857211, complement)
45126 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

51 SETD1A/9739 SET domain containing 1A, histone lysine methyltransferase 16p11.2 Chr16, NC_000016.10
(30957754..30984664)
26911 nt 23 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

52 SPEN/23013 spen family transcriptional repressor 1p36.13 Chr1, NC_000001.11
(15847707..15940456)
92750 nt 15 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

53 GRIN2B/2904 glutamate ionotropic receptor NMDA type subunit 2B 12p13.1 Chr12, NC_000012.12
(13537337..13982134, complement)
444798 nt 15 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

54 DIP2A/23181 disco interacting protein 2 homolog A 21q22.3 Chr21, NC_000021.9
(46458891..46583871)
124981 nt 44 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

55 NBEA/26960 neurobeachin 13q13.3 Chr13, NC_000013.11
(34942270..35672736)
730467 nt 64 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

56 KDM3B/51780 lysine demethylase 3B 5q31.2 Chr5, NC_000005.10
(138352685..138437027)
84343 nt 27 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

57 ASXL2/55252 ASXL transcriptional regulator 2 2p23.3 Chr2, NC_000002.12
(25733753..25878487, complement)
144735 nt 16 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

58 CHD3/1107 chromodomain helicase DNA binding protein 3 17p13.1 Chr17, NC_000017.11
(7884796..7912755)
27960 nt 45 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

59 EBF3/253738 EBF transcription factor 3 10q26.3 Chr10, NC_000010.11
(129835233..129964274, complement)
129042 nt 19 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

60 GIGYF1/64599 GRB10 interacting GYF protein 1 7q22.1 Chr7, NC_000007.14
(100679507..100694250, complement)
14744 nt 27 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

61 IRF2BPL/64207 interferon regulatory factor 2 binding protein like 14q24.3 Chr14, NC_000014.9
(77024543..77028708, complement)
4166 nt 1 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

62 ASXL3/80816 ASXL transcriptional regulator 3 18q12.1 Chr18, NC_000018.10
(33578219..33751195)
172977 nt 18 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

63 BCL11B/64919 BCL11 transcription factor B 14q32.2 Chr14, NC_000014.9
(99169287..99272197, complement)
102911 nt 5 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

64 HECTD4/283450 HECT domain E3 ubiquitin protein ligase 4 12q24.13 Chr12, NC_000012.12
(112160195..112382431, complement)
222237 nt 76 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

65 AEBP1/165 AE binding protein 1 7p13 Chr7, NC_000007.14
(44104345..44114560)
10216 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

66 NRXN1/9378 neurexin 1 2p16.3 Chr2, NC_000002.12
(49918503..51032132, complement)
1113630 nt 27 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

67 ANK2/287 ankyrin 2 4q26 Chr4, NC_000004.12
(112705622..113383736)
678115 nt 61 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

68 TNRC6B/23112 trinucleotide repeat containing adaptor 6B 22q13.1 Chr22, NC_000022.11
(40044834..40335808)
290975 nt 27 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

69 RIMS1/22999 regulating synaptic membrane exocytosis 1 6q13 Chr6, NC_000006.12
(71886550..72403145)
516596 nt 42 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

70 CHD8/57680 chromodomain helicase DNA binding protein 8 14q11.2 Chr14, NC_000014.9
(21385199..21456123, complement)
70925 nt 39 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

71 KMT2A/4297 lysine methyltransferase 2A 11q23.3 Chr11, NC_000011.10
(118436492..118526832)
90341 nt 37 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

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

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development