Autism Spectrum Disorder(ASD) Explore Disorder's Alias
An Unknown mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Unknown mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
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 |