RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Developmental Disabilities |
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Accession: | DOID:9008086
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browse the term
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Definition: | Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) |
Synonyms: | exact_synonym: | Child Development Deviation; Child Development Deviations; Child Development Disorder; Child Development Disorders; Child Development Disorders, Specific; DEVELOPMENTAL DELAY; Developmental Delay Disorder; Developmental Delay Disorders; Developmental Disability; Global developmental delay |
| primary_id: | MESH:D002658; RDO:0000673 |
| xref: | EFO:0003852; NCI:C116942 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Aar2 |
AAR2 splicing factor |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:145,057,368...145,079,838
Ensembl chr 3:145,057,458...145,080,166
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Aco2 |
aconitase 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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Acsf3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Actl6a |
actin-like 6A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28649782 |
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NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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Actl6b |
actin-like 6B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
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NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
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Acyp1 |
acylphosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 PMID:28492532 More...
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NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
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Adap2 |
ArfGAP with dual PH domains 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:65,138,006...65,166,147
Ensembl chr10:65,138,020...65,165,604
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Adgrg1 |
adhesion G protein-coupled receptor G1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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Adgrl1 |
adhesion G protein-coupled receptor L1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:35907405 |
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NCBI chr19:24,202,405...24,244,137
Ensembl chr19:24,204,360...24,244,139
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Adnp |
activity-dependent neuroprotector homeobox |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 PMID:28492532 PMID:29475819 PMID:29724491 PMID:29911927 PMID:33004838 More...
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NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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Agtpbp1 |
ATP/GTP binding carboxypeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr17:5,120,540...5,238,874
Ensembl chr17:5,120,609...5,238,869
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Ahdc1 |
AT hook, DNA binding motif, containing 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 |
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NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:15322546 PMID:23532844 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30755392 More...
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NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:33176815 More...
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32681751 |
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NCBI chr X:107,885,039...107,906,264
Ensembl chr X:107,885,064...107,893,002
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Ambra1 |
autophagy and beclin 1 regulator 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
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Ampd2 |
adenosine monophosphate deaminase 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:28492532 PMID:32552793 |
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NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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Ank3 |
ankyrin 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
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Ankrd11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21782149 PMID:24088041 PMID:25125236 PMID:25413698 PMID:25464108 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27605097 PMID:27667800 PMID:28492532 PMID:31607427 PMID:32124548 PMID:33955014 PMID:35330407 PMID:35682590 More...
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NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Ap1g2 |
adaptor related protein complex 1 subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
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Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 |
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NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Arfgap1 |
ADP-ribosylation factor GTPase activating protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20805988 |
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NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
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Arfgef1 |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34113008 |
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NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
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Arfgef2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
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Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:17893116 PMID:18615734 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26834553 PMID:28492532 PMID:28589176 PMID:28708303 More...
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NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741885 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Arid5b |
AT-rich interaction domain 5B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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Arl14ep |
ADP-ribosylation factor like GTPase 14 effector protein |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 |
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NCBI chr 3:93,441,952...93,454,282
Ensembl chr 3:93,443,183...93,454,155
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As3mt |
arsenite methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28235556 |
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NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
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Ash1l |
ASH1 like histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
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Ash2l |
ASH2 like histone lysine methyltransferase complex subunit |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
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NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
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Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21706002 PMID:25741868 PMID:28492532 |
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NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Asxl3 |
ASXL transcriptional regulator 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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Atad5 |
ATPase family, AAA domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845
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Atoh1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24631656 PMID:24842602 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:28293679 PMID:28492532 PMID:28637637 PMID:30071271 More...
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atp6v0a1 |
ATPase H+ transporting V0 subunit a1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28135719 PMID:28492532 PMID:33833240 PMID:34909687 |
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NCBI chr10:85,935,802...85,989,901
Ensembl chr10:85,935,854...85,989,895
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26539891 PMID:28492532 PMID:29790871 |
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Auts2 |
activator of transcription and developmental regulator AUTS2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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Bcas3 |
BCAS3, microtubule associated cell migration factor |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:34022130 |
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NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080
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Bcl11a |
BCL11 transcription factor A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741869 |
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NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcorl1 |
BCL6 co-repressor-like 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Bex3 |
brain expressed X-linked 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:99,273,238...99,274,799
Ensembl chr X:99,273,161...99,274,800
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Bfsp2 |
beaded filament structural protein 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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Bptf |
bromodomain PHD finger transcription factor |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28942966 |
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NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brpf1 |
bromodomain and PHD finger containing, 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32652122 |
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NCBI chr 4:146,456,344...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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Btd |
biotinidase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16325861 PMID:16787562 PMID:18354422 PMID:20301674 PMID:24486772 PMID:25326635 PMID:25481746 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28742085 PMID:30011838 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Cacna1i |
calcium voltage-gated channel subunit alpha1 I |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688
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Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741872 |
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NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
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Camk2b |
calcium/calmodulin-dependent protein kinase II beta |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 PMID:32581362 PMID:32875707 More...
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NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
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Camkmt |
calmodulin-lysine N-methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
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NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32581362 |
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Casr |
calcium-sensing receptor |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cbl |
Cbl proto-oncogene |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:20694012 |
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NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cc2d1a |
coiled-coil and C2 domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936
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Cdk10 |
cyclin-dependent kinase 10 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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Cdk13 |
cyclin-dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741891 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30702837 PMID:30904094 More...
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NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Cdk20 |
cyclin-dependent kinase 20 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:29127259 |
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NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826
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Cdk5rap2 |
CDK5 regulatory subunit associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782
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Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Celsr2 |
cadherin, EGF LAG seven-pass G-type receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
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NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
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G |
Cep128 |
centrosomal protein 128 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:8964822 PMID:12050212 PMID:25741868 |
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NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 PMID:21866095 PMID:23847139 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29588463 PMID:31734136 More...
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NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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G |
Cep97 |
centrosomal protein 97 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
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NCBI chr11:44,683,503...44,711,471
Ensembl chr11:44,683,506...44,711,471
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G |
Chaf1b |
chromatin assembly factor 1 subunit B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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G |
Champ1 |
chromosome alignment maintaining phosphoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr16:75,733,958...75,744,977
Ensembl chr16:75,733,805...75,744,984
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G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30397230 |
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NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:30559488 |
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NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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G |
Chd5 |
chromodomain helicase DNA binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33944996 |
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NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
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G |
Chrm4 |
cholinergic receptor, muscarinic 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159
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G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20805988 |
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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G |
Clcn4 |
chloride voltage-gated channel 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr X:23,729,194...23,795,391
Ensembl chr X:23,729,338...23,793,238
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G |
Clcn6 |
chloride voltage-gated channel 6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33217309 |
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NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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G |
Clip1 |
CAP-GLY domain containing linker protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr12:32,910,932...33,017,891
Ensembl chr12:32,910,977...33,017,884
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G |
Cltc |
clathrin heavy chain |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
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G |
Cnot3 |
CCR4-NOT transcription complex, subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167
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G |
Cntn4 |
contactin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15106122 |
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NCBI chr 4:138,624,584...139,622,499
Ensembl chr 4:139,099,152...139,621,090
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G |
Cog4 |
component of oligomeric golgi complex 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
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G |
Col12a1 |
collagen type XII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 PMID:30311386 |
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Coprs |
coordinator of PRMT5 and differentiation stimulator |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr16:75,721,264...75,726,375
Ensembl chr16:75,720,061...75,726,375
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G |
Coq8a |
coenzyme Q8A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18319074 PMID:20580948 PMID:24164873 PMID:28492532 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Cpa6 |
carboxypeptidase A6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 More...
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NCBI chr 5:8,559,745...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24178751 PMID:25407461 PMID:25558065 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:34008892 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Cradd |
CASP2 and RIPK1 domain containing adaptor with death domain |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907
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G |
Creb3l1 |
cAMP responsive element binding protein 3-like 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Crlf3 |
cytokine receptor-like factor 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:65,024,228...65,060,746
Ensembl chr10:65,023,388...65,060,670
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G |
Crybg1 |
crystallin beta-gamma domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr20:47,425,030...47,496,918
Ensembl chr20:47,426,183...47,621,392
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G |
Cspp1 |
centrosome and spindle pole associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27848944 PMID:27915094 PMID:28492532 More...
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Cul4b |
cullin 4B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868 |
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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G |
Cyfip2 |
cytoplasmic FMR1 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741870 PMID:30664714 |
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NCBI chr10:30,621,318...30,741,113
Ensembl chr10:30,621,318...30,741,113
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G |
Cyp2u1 |
cytochrome P450, family 2, subfamily u, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23176821 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29034544 More...
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NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
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G |
Dchs1 |
dachsous cadherin-related 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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G |
Ddc |
dopa decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741895 |
|
NCBI chr X:9,479,532...9,493,455
Ensembl chr X:9,479,532...9,493,168
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G |
Ddx5 |
DEAD-box helicase 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
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G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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G |
Dgkz |
diacylglycerol kinase zeta |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
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G |
Dhcr7 |
7-dehydrocholesterol reductase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:8259166 PMID:8737829 PMID:9024557 PMID:9536098 PMID:9653161 PMID:9683613 PMID:10677299 PMID:10807690 PMID:10814720 PMID:10995508 PMID:11161831 PMID:11175299 PMID:11241839 PMID:11427181 PMID:11562938 PMID:12794707 PMID:15286151 PMID:15464432 PMID:15776424 PMID:15805162 PMID:15952211 PMID:16761297 PMID:16906538 PMID:17576681 PMID:17965227 PMID:18285838 PMID:19365639 PMID:20301322 PMID:20635399 PMID:21777499 PMID:22211794 PMID:22226660 PMID:22438180 PMID:22975760 PMID:23042628 PMID:23293579 PMID:23918729 PMID:24033266 PMID:24824134 PMID:25108116 PMID:25741868 PMID:25807282 PMID:26467025 PMID:28166604 PMID:28492532 PMID:29455191 PMID:35305950 More...
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NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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G |
Dhx30 |
DExH-box helicase 30 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28327206 PMID:29100085 PMID:32581362 |
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NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
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G |
Diaph1 |
diaphanous-related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24781755 PMID:25558065 |
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NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
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G |
Dip2c |
disco-interacting protein 2 homolog C |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr17:60,647,346...61,032,467
Ensembl chr17:60,649,065...61,032,305
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G |
Dmbx1 |
diencephalon/mesencephalon homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr 5:129,394,221...129,403,040
Ensembl chr 5:129,394,221...129,403,040
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G |
Dnhd1 |
dynein heavy chain domain 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
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G |
Dock3 |
dedicator of cyto-kinesis 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30976111 |
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NCBI chr 8:107,552,462...107,903,527
Ensembl chr 8:107,552,463...107,903,514
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G |
Dock8 |
dedicator of cytokinesis 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18060736 |
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NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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G |
Dph1 |
diphthamide biosynthesis 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:30877278 |
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NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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G |
Dph2 |
diphthamide biosynthesis 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32576952 |
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NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
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NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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G |
Drd2 |
dopamine receptor D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21592505 |
|
NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
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G |
Drp2 |
dystrophin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,607,577...97,658,115
Ensembl chr X:97,607,719...97,655,684
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G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741904 PMID:28527814 PMID:31028357 |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25590979 PMID:25741868 PMID:27754416 PMID:28492532 PMID:29286531 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25741883 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 More...
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NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22492562 PMID:25741868 PMID:26893310 PMID:28492532 |
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NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
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G |
Ebf3 |
EBF transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28017370 PMID:28017372 PMID:32581362 PMID:33956416 |
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NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
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G |
Eef1b2 |
eukaryotic translation elongation factor 1 beta 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:64,580,009...64,582,737
Ensembl chr 9:64,579,893...64,582,737
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G |
Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741880 |
|
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23232695 PMID:25741868 PMID:30370152 |
|
NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32197074 |
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NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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G |
Elavl2 |
ELAV like RNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:105,960,872...106,086,539
Ensembl chr 5:105,960,875...106,109,097
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Emc1 |
ER membrane protein complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 PMID:32092440 More...
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NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
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G |
Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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G |
Epg5 |
ectopic P-granules 5 autophagy tethering factor |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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G |
Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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G |
Eri1 |
exoribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr16:56,724,101...56,744,228
Ensembl chr16:56,724,115...56,744,226
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G |
Evi2a |
ecotropic viral integration site 2A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,485,760...64,489,660
Ensembl chr10:64,485,200...64,489,843
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G |
Evi2b |
ecotropic viral integration site 2B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,472,693...64,474,311
Ensembl chr10:64,471,505...64,481,560
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25927356 PMID:28492532 |
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NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25927356 PMID:28492532 |
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NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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G |
Fars2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30177229 PMID:30869852 More...
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NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
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G |
Fat3 |
FAT atypical cadherin 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135
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G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30311386 |
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NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Fktn |
fukutin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16684786 PMID:20730588 PMID:25741868 PMID:26471271 PMID:28492532 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Foxg1 |
forkhead box G1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:19578037 PMID:25741868 PMID:28492532 PMID:28661489 PMID:32581362 |
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NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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G |
Foxp4 |
forkhead box P4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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G |
Fzr1 |
fizzy and cell division cycle 20 related 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 7:8,332,029...8,343,953
Ensembl chr 7:8,332,029...8,343,952
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G |
Gabbr1 |
gamma-aminobutyric acid type B receptor subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:36103875 |
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NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18514161 PMID:22303015 PMID:25741868 PMID:28492532 |
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NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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G |
Gemin4 |
gem (nuclear organelle) associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:27878435 |
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NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431 Ensembl chr10:61,066,425...61,073,431
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G |
Gk |
glycerol kinase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
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G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Gmppa |
GDP-mannose pyrophosphorylase A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24035193 |
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NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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G |
Gmppb |
GDP-mannose pyrophosphorylase B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25356970 PMID:25741868 PMID:25966631 PMID:26795593 PMID:27068059 PMID:28492532 PMID:28628939 PMID:28688840 PMID:28747448 PMID:29761117 PMID:31406558 PMID:33298085 More...
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NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27759915 PMID:28087732 PMID:28492532 PMID:29694806 PMID:30194818 PMID:30504930 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Gnb2 |
G protein subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33971351 |
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NCBI chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019
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G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741873 PMID:27523599 PMID:27677260 PMID:30631341 PMID:31130284 PMID:33172956 PMID:33176815 More...
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NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
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G |
Golph3 |
golgi phosphoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:61,348,030...61,376,051
Ensembl chr 2:61,348,030...61,376,049
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G |
Grcc10 |
gene rich cluster, C10 gene |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 PMID:25326635 PMID:25558065 PMID:25741868 PMID:28097321 PMID:28454995 PMID:28492532 PMID:28600779 PMID:29383837 More...
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NCBI chr 4:157,551,276...157,552,924
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G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741907 |
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NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096
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G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 |
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741871 |
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NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741889 PMID:31319223 |
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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G |
Grm7 |
glutamate metabotropic receptor 7 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:27435318 PMID:32286009 |
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NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344
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G |
Gtpbp3 |
GTP binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
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G |
H3f3a |
H3.3 histone A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21636898 PMID:25741868 PMID:33268356 PMID:34876591 |
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NCBI chr13:92,533,294...92,544,903
Ensembl chr13:92,533,298...92,544,908
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G |
H3f3b |
H3.3 histone B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:33268356 PMID:34876591 |
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NCBI chr10:101,256,488...101,258,712
Ensembl chr10:101,256,480...101,258,709
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G |
Hace1 |
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26424145 PMID:26437029 PMID:28492532 PMID:32581362 |
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NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
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G |
Harbi1 |
harbinger transposase derived 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724
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G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hdac8 |
histone deacetylase 8 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26671848 |
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NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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G |
Herc2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30755392 |
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NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
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G |
Hexa |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 PMID:2137287 PMID:2521932 PMID:2961848 PMID:2973311 PMID:7551830 PMID:8730294 PMID:16088929 PMID:17015493 PMID:18490185 PMID:20100466 PMID:20301350 PMID:22441121 PMID:22789865 PMID:23359698 PMID:24953648 PMID:25041270 PMID:25741868 PMID:25741876 PMID:28359061 PMID:28492532 More...
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NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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G |
Hpd |
4-hydroxyphenylpyruvate dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
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G |
Hspb9 |
heat shock protein family B (small) member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31546644 |
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NCBI chr10:85,641,284...85,641,929
Ensembl chr10:85,641,284...85,641,929
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741905 PMID:28492532 |
|
NCBI chr X:20,871,278...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Iars1 |
isoleucyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237
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G |
Ids |
iduronate 2-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:34670126 |
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NCBI chr X:149,025,977...149,046,639
Ensembl chr X:149,025,976...149,046,663
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G |
Irf2bpl |
interferon regulatory factor 2 binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:106,528,053...106,530,401
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G |
Isca2 |
iron-sulfur cluster assembly 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29122497 PMID:29297947 PMID:29470032 More...
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NCBI chr 6:104,418,509...104,420,019
Ensembl chr 6:104,418,454...104,420,045
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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20301783 PMID:22544363 PMID:22544367 PMID:25741868 PMID:25741877 PMID:28492532 More...
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NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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G |
Kars1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33260297 |
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NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
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G |
Kat14 |
lysine acetyltransferase 14 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
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NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
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G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
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G |
Kcnn2 |
potassium calcium-activated channel subfamily N member 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16002581 PMID:25741868 PMID:28492532 PMID:33242881 |
|
NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:12754513 PMID:20805988 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 PMID:27602407 PMID:28492532 PMID:29760947 PMID:31152295 PMID:31832524 PMID:32139178 PMID:32573669 PMID:32581362 PMID:32917465 PMID:34711204 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq5 |
potassium voltage-gated channel subfamily Q member 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741879 |
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NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23086397 |
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Kdm1a |
lysine demethylase 1A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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G |
Kdm2b |
lysine demethylase 2B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
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G |
Kdm3b |
lysine demethylase 3B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
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G |
Kdm6a |
lysine demethylase 6A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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G |
Kif1a |
kinesin family member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30559488 |
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NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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G |
Kif1b |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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G |
Kif5b |
kinesin family member 5B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr17:51,489,873...51,527,508
Ensembl chr17:51,489,944...51,527,508
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G |
Kirrel3 |
kirre like nephrin family adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
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G |
Kmt2b |
lysine methyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741878 |
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NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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G |
Kmt2c |
lysine methyltransferase 2C |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22832583 PMID:25741868 PMID:29926297 PMID:30352910 PMID:30981987 |
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NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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G |
Kmt2e |
lysine methyltransferase 2E |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:11,657,811...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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G |
Kmt5b |
lysine methyltransferase 5B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Las1l |
LAS1-like, ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25644381 PMID:28492532 |
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NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687
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G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:36055214 |
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NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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G |
Lifr |
LIF receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30311386 |
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NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
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G |
Lmbrd2 |
LMBR1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:32820033 |
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NCBI chr 2:58,189,558...58,251,565
Ensembl chr 2:58,189,558...58,247,076
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G |
LOC690000 |
similar to CG3740-PA |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26539891 |
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NCBI chr 1:90,873,542...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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G |
Lrig2 |
leucine-rich repeats and immunoglobulin-like domains 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741906 |
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NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
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G |
Lrp1 |
LDL receptor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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G |
Lrp2 |
LDL receptor related protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:17632512 PMID:25741868 PMID:28492532 |
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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G |
Lrrc32 |
leucine rich repeat containing 32 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30976112 |
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NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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G |
Lsm1 |
LSM1 homolog, mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:31010896 |
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NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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G |
Macf1 |
microtubule-actin crosslinking factor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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G |
Maf |
MAF bZIP transcription factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21763484 PMID:21937992 PMID:24348268 PMID:24566669 PMID:25741868 PMID:26279649 PMID:27148587 PMID:29908352 More...
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NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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G |
Map1b |
microtubule-associated protein 1B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
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G |
Mapk3 |
mitogen activated protein kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30559488 |
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NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
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G |
Mcph1 |
microcephalin 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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G |
Mdk |
midkine |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,901,156...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10854091 PMID:10944854 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11055898 PMID:11058114 PMID:11106359 PMID:11214906 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11402105 PMID:11462237 PMID:11469283 PMID:11738860 PMID:11738864 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11913567 PMID:11960578 PMID:12081725 PMID:12111643 PMID:12180070 PMID:12325033 PMID:12746405 PMID:12872250 PMID:12872251 PMID:14536082 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15228575 PMID:15389714 PMID:15526954 PMID:15737703 PMID:16077729 PMID:16183801 PMID:16473305 PMID:16629931 PMID:16672765 PMID:17089071 PMID:17341617 PMID:17387578 PMID:17505203 PMID:17986102 PMID:18334558 PMID:18652533 PMID:19559301 PMID:19722030 PMID:20031356 PMID:20301670 PMID:20631224 PMID:21154482 PMID:21160487 PMID:21695138 PMID:21982064 PMID:22277191 PMID:23238081 PMID:23262346 PMID:23270700 PMID:24283265 PMID:24399845 PMID:24511209 PMID:24626160 PMID:25167861 PMID:25541993 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34008892 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:25326635 PMID:25741868 PMID:26350204 PMID:28369444 PMID:28492532 More...
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NCBI chr X:66,404,622...66,427,772
Ensembl chr X:66,404,760...66,428,387
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G |
Med13l |
mediator complex subunit 13L |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25712080 PMID:25741868 PMID:25741884 PMID:25758992 PMID:28492532 PMID:31785789 More...
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NCBI chr12:37,807,596...38,004,485
Ensembl chr12:37,808,285...38,004,473
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16714318 PMID:21715711 PMID:26955893 PMID:28492532 |
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mgat2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20684000 PMID:22105986 PMID:25558065 PMID:28492532 PMID:28742265 |
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NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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G |
Mir193a |
microRNA 193a |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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G |
Mlh1 |
mutL homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9311737 PMID:11948175 PMID:15475387 PMID:16736289 PMID:17135187 PMID:17210669 PMID:17510385 PMID:21404117 PMID:22843852 PMID:23741719 PMID:25741868 PMID:26467025 PMID:26552419 PMID:28492532 PMID:28514183 PMID:28767289 PMID:30504929 PMID:31332305 PMID:33471991 More...
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NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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G |
Morc2 |
MORC family CW-type zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741893 PMID:26497905 PMID:27105897 PMID:28492532 PMID:29440755 PMID:30624633 PMID:31211173 PMID:32693025 PMID:34059105 More...
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NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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G |
Morf4l2 |
mortality factor 4 like 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:100,082,562...100,093,658
Ensembl chr X:100,082,404...100,093,728
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G |
Mpp4 |
MAGUK p55 scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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G |
Msl3 |
MSL complex subunit 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30224647 |
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NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28027978 |
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:28027978 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mto1 |
mitochondrial tRNA translation optimization 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741868 PMID:25741892 PMID:28492532 More...
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NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231
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G |
Mtss2 |
MTSS I-BAR domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
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G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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G |
Myh10 |
myosin heavy chain 10 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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G |
Myo19 |
myosin XIX |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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G |
Naa15 |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28191889 PMID:28303347 PMID:29656860 |
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NCBI chr 2:135,458,018...135,520,756
Ensembl chr 2:135,457,948...135,520,756
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G |
Nans |
N-acetylneuraminate synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27213289 |
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NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
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G |
Nbea |
neurobeachin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:139,780,021...140,338,639
Ensembl chr 2:139,780,021...140,340,584
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G |
Nckap1 |
NCK-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741875 |
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NCBI chr 3:65,417,450...65,491,769
Ensembl chr 3:65,417,453...65,492,217
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G |
Ncor1 |
nuclear receptor co-repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
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NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
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G |
Ndc1 |
NDC1 transmembrane nucleoporin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:122,155,992...122,202,295
Ensembl chr 5:122,155,967...122,202,291
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G |
Ndst1 |
N-deacetylase and N-sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25125150 PMID:25741868 PMID:27620904 PMID:27870114 PMID:28492532 |
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NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nfe2l1 |
NFE2 like bZIP transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr10:81,796,055...81,812,926
Ensembl chr10:81,800,366...81,832,318
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G |
Ngly1 |
N-glycanase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
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G |
Nipbl |
NIPBL, cohesin loading factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30606125 PMID:31157197 More...
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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G |
Nkap |
NFKB activating protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 PMID:23040504 PMID:24033266 PMID:24625443 PMID:24830548 PMID:24940029 PMID:25741868 PMID:26018082 PMID:26103963 PMID:27032803 PMID:28041643 PMID:28492532 PMID:29184169 PMID:30004997 PMID:32150116 PMID:32533184 PMID:32581362 More...
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NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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G |
Nol11 |
nucleolar protein 11 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28942966 |
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NCBI chr10:92,119,000...92,141,688
Ensembl chr10:92,121,833...92,141,677
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G |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
DNA:missense mutation:CDS:p.P459A (human) |
RGD |
PMID:36653413 |
RGD:155900764 |
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Npc2 |
NPC intracellular cholesterol transporter 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 PMID:28492532 More...
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NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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G |
Nr2f1 |
nuclear receptor subfamily 2, group F, member 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
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G |
Nsmce2 |
NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
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G |
Nsun2 |
NOP2/Sun RNA methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:33,662,139...33,685,887
Ensembl chr 1:33,662,139...33,685,862
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G |
Ntng2 |
netrin G2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:31372774 PMID:31692205 |
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NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15494731 |
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NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Nup107 |
nucleoporin 107 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 |
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NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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G |
Nup155 |
nucleoporin 155 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148
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G |
Nup214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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G |
Ocln |
occludin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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G |
Omg |
oligodendrocyte-myelin glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,461,350...64,464,084
Ensembl chr10:64,461,350...64,464,084
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G |
Otc |
ornithine transcarbamylase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28975623 PMID:29550517 PMID:30113927 PMID:30588754 PMID:30690871 PMID:32963807 More...
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NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
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G |
Parp10 |
poly (ADP-ribose) polymerase family, member 10 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304
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G |
Pc |
pyruvate carboxylase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741903 |
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NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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G |
Pccb |
propionyl-CoA carboxylase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:5116697 PMID:18469813 PMID:21053371 PMID:22267240 PMID:22946748 PMID:23334464 PMID:25741868 PMID:27143072 PMID:27527380 PMID:28492532 More...
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NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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G |
Pcgf2 |
polycomb group ring finger 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:28492532 PMID:30343942 More...
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NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Pde10a |
phosphodiesterase 10A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:27058446 PMID:32581362 |
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NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
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G |
Pdzd2 |
PDZ domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:61,384,614...61,770,516
Ensembl chr 2:61,386,381...61,770,524
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G |
Pelp1 |
proline, glutamate and leucine rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:55,094,798...55,111,833
Ensembl chr10:55,094,796...55,111,994
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G |
Pepd |
peptidase D |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
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G |
Phactr1 |
phosphatase and actin regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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G |
Phf6 |
PHD finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741900 |
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NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24463883 PMID:25558065 PMID:28492532 |
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NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:27916860 PMID:30976099 PMID:32581362 |
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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G |
Plp1 |
proteolipid protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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G |
Pmp22 |
peripheral myelin protein 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17275665 |
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NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:20118933 PMID:25558065 |
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Pnpt1 |
polyribonucleotide nucleotidyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696
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G |
Pogz |
pogo transposable element derived with ZNF domain |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26077850 PMID:27148570 PMID:31782611 |
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NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 PMID:12707443 PMID:12825077 PMID:12975295 PMID:14635118 PMID:15349879 PMID:15689359 PMID:16401742 PMID:16621917 PMID:17418573 PMID:18487244 PMID:18546365 PMID:18828154 PMID:19189930 PMID:19251978 PMID:19566497 PMID:19578034 PMID:20385918 PMID:20513108 PMID:21138766 PMID:21880868 PMID:22616202 PMID:23324391 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23921535 PMID:24122062 PMID:24265579 PMID:24508722 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26742794 PMID:27538604 PMID:28130605 PMID:28154168 PMID:28471437 PMID:28492532 PMID:28812649 PMID:29358615 PMID:29431110 PMID:29474836 PMID:30369941 PMID:30423451 PMID:30487145 PMID:30936349 PMID:31645654 PMID:32019516 PMID:33396418 PMID:34008892 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Porcn |
porcupine O-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741874 |
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NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
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G |
Ppp2r2b |
protein phosphatase 2, regulatory subunit B, beta |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr18:34,653,716...35,080,889
Ensembl chr18:34,653,721...35,081,025
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G |
Ppp2r5c |
protein phosphatase 2, regulatory subunit B', gamma |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
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G |
Ppp2r5d |
protein phosphatase 2, regulatory subunit B', delta |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 PMID:26168268 PMID:28191890 PMID:28492532 PMID:28554332 PMID:29296277 PMID:30676711 PMID:32074998 More...
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NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9664077 PMID:10477428 PMID:11440996 PMID:19302939 PMID:21499717 PMID:21990111 PMID:22387303 PMID:23374165 PMID:25741868 PMID:28492532 PMID:28878621 PMID:31741823 More...
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NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048
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G |
Prorp |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
N113S, D182H |
RGD |
PMID:8253776 |
RGD:1599725 |
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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G |
Psmd12 |
proteasome 26S subunit, non-ATPase 12 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:92,438,223...92,457,323
Ensembl chr10:92,438,298...92,457,287
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:18759867 PMID:19265751 PMID:19321504 PMID:25741868 PMID:26467025 |
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NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:22488759 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25595571 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Ptpn23 |
protein tyrosine phosphatase, non-receptor type 23 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:28492532 PMID:31395947 |
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NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
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G |
Pum1 |
pumilio RNA-binding family member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039
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G |
Pura |
purine rich element binding protein A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 PMID:34008892 More...
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NCBI chr18:27,884,618...27,905,500
Ensembl chr18:27,884,556...27,905,513
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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G |
Qrsl1 |
glutaminyl-tRNA amidotransferase subunit QRSL1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr20:47,357,211...47,382,135
Ensembl chr20:47,357,216...47,382,135
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G |
Rab11fip4 |
RAB11 family interacting protein 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
|
NCBI chr10:64,550,109...64,658,123
Ensembl chr10:64,550,177...64,654,759
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G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 PMID:32870266 |
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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G |
Rab9b |
RAB9B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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G |
Rac1 |
Rac family small GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741888 PMID:28886345 |
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NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16931511 PMID:17686188 PMID:25741868 PMID:25741902 PMID:26467025 PMID:28492532 More...
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NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
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G |
Rbm8a |
RNA binding motif protein 8A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22366785 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28857120 |
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NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
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G |
Rere |
arginine-glutamic acid dipeptide repeats |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
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G |
RGD1307947 |
similar to RIKEN cDNA C430008C19 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 |
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
RGD1309106 |
similar to hypothetical protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741900 |
|
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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G |
Rlim |
ring finger protein, LIM domain interacting |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25735484 PMID:25741868 |
|
NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Rnf135 |
ring finger protein 135 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
|
NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Rps6kc1 |
ribosomal protein S6 kinase C1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr13:102,346,160...102,491,000
Ensembl chr13:102,346,160...102,490,303
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G |
Rtn4ip1 |
reticulon 4 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33037779 |
|
NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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G |
Rubcn |
rubicon autophagy regulator |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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G |
Satb2 |
SATB homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29987015 PMID:31849593 |
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NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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|
G |
Scamp5 |
secretory carrier membrane protein 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:31439720 PMID:33390987 |
|
NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027
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|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:19563458 PMID:20452746 PMID:20522430 PMID:22071555 PMID:22409937 PMID:22848613 PMID:23895530 PMID:23934111 PMID:24656210 PMID:25401298 PMID:25741868 PMID:28012175 PMID:28148630 PMID:28492532 PMID:28794249 PMID:31791873 PMID:32581362 More...
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|
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 PMID:32581362 |
|
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25725044 PMID:25741868 PMID:27900360 PMID:28492532 PMID:30109124 PMID:31625145 PMID:32581362 More...
|
|
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:19763161 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 PMID:26467025 PMID:27504264 PMID:28492532 PMID:29176367 PMID:30642272 PMID:33216760 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Set |
Set nuclear proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:11231286 PMID:25356899 PMID:25741868 PMID:27775603 PMID:28135719 PMID:29688601 PMID:34008892 More...
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NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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G |
Setd1b |
SET domain containing 1B, histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr12:33,395,963...33,421,671
Ensembl chr12:33,396,120...33,426,934
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G |
Setd5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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|
G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 PMID:22976768 PMID:25741868 PMID:26787381 PMID:27590925 PMID:28492532 PMID:29023963 PMID:31536183 PMID:32581362 More...
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NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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G |
Shank1 |
SH3 and multiple ankyrin repeat domains 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:94,807,879...94,857,356
Ensembl chr 1:94,808,276...94,855,824
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G |
Shank2 |
SH3 and multiple ankyrin repeat domains 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394
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G |
Shank3 |
SH3 and multiple ankyrin repeat domains 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:16284256 PMID:25741868 PMID:32581362 |
|
NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
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G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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G |
Sil1 |
SIL1 nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
|
NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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G |
Slc13a5 |
solute carrier family 13 member 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
|
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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G |
Slc1a3 |
solute carrier family 1 member 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
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G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9462754 PMID:10980529 PMID:11603379 |
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NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Slc33a1 |
solute carrier family 33 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:22243965 PMID:32581362 |
|
NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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G |
Slc35f1 |
solute carrier family 35, member F1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24824130 |
|
NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
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G |
Slc4a4 |
solute carrier family 4 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18614622 |
|
NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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G |
Slc6a1 |
solute carrier family 6 member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25363768 PMID:25741868 PMID:27824329 PMID:28492532 PMID:30132828 PMID:31332282 PMID:31981491 PMID:32581362 More...
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NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11326334 |
|
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Slc9a6 |
solute carrier family 9 member A6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32581362 PMID:32860008 |
|
NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
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G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741897 |
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Smarca5 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr19:27,271,918...27,304,594
Ensembl chr19:27,271,148...27,304,594
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G |
Smarcd1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Smg9 |
SMG9 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:27018474 |
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NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
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G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33299146 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Snrnp70 |
small nuclear ribonucleoprotein U1 subunit 70 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 1:95,856,039...95,876,434
Ensembl chr 1:95,856,036...95,876,392
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G |
Soga3 |
SOGA family member 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:28,629,036...28,701,416
Ensembl chr 1:28,620,293...28,701,796
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G |
Son |
SON DNA and RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 PMID:27545680 PMID:28135719 PMID:28492532 PMID:34521999 More...
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NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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G |
Sox5 |
SRY-box transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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G |
Srd5a3 |
steroid 5 alpha-reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362 More...
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NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
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G |
ST7 |
suppression of tumorigenicity 7 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr 4:46,041,655...46,289,745
Ensembl chr 4:46,042,236...46,289,740
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G |
Stag1 |
stromal antigen 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741896 |
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NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677
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G |
Stambp |
Stam binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
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NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
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G |
Stard9 |
StAR-related lipid transfer domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:107,581,097...107,672,746
Ensembl chr 3:107,581,164...107,673,898
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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G |
Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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G |
Syngap1 |
synaptic Ras GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
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G |
Taf6 |
TATA-box binding protein associated factor 6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 |
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NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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G |
Tanc2 |
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:31616000 |
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NCBI chr10:90,553,124...90,873,477
Ensembl chr10:90,553,002...90,868,756
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G |
Taok1 |
TAO kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr10:62,373,076...62,465,295
Ensembl chr10:62,381,404...62,465,766
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G |
Tasp1 |
taspase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:31209944 |
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NCBI chr 3:127,176,416...127,408,039
Ensembl chr 3:127,176,692...127,399,600
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31922275 PMID:32581362 |
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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G |
Tbcd |
tubulin folding cofactor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666370 |
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NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
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G |
Tbck |
TBC1 domain containing kinase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16199547 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:28492532 PMID:30103036 More...
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NCBI chr 2:221,175,749...221,348,126
Ensembl chr 2:221,175,785...221,348,126
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G |
Tceal1 |
transcription elongation factor A like 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
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G |
Tceal3 |
transcription elongation factor A like 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr X:100,010,675...100,012,637
Ensembl chr X:100,010,690...100,012,654
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G |
Tcf12 |
transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
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G |
Tcf20 |
transcription factor 20 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
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G |
Tcf4 |
transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741890 |
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NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
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Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:26092869 |
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Tctn3 |
tectonic family member 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:239,414,004...239,425,319
Ensembl chr 1:239,415,203...239,425,272
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Tefm |
transcription elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486
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Tet3 |
tet methylcytosine dioxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Tmco1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem92 |
transmembrane protein 92 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr10:79,749,242...79,760,807
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G |
Tmprss9 |
transmembrane serine protease 9 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:8,810,320...8,834,914
Ensembl chr 7:8,810,320...8,831,177
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Tnrc6b |
trinucleotide repeat containing adaptor 6B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
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Tonsl |
tonsoku-like, DNA repair protein |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
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Tp53rka |
tumor protein p53 regulating kinase A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32581362 |
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NCBI chr 3:154,221,605...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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G |
Tpo |
thyroid peroxidase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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G |
Tpp2 |
tripeptidyl peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:33586135 |
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NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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G |
Traf7 |
TNF receptor associated factor 7 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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Trh |
thyrotropin releasing hormone |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Trpm3 |
transient receptor potential cation channel, subfamily M, member 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:31278393 |
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NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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Trrap |
transformation/transcription domain-associated protein |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741898 |
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NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
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Tsen15 |
tRNA splicing endonuclease subunit 15 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:27392077 |
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NCBI chr13:64,490,216...64,505,617
Ensembl chr13:64,490,218...64,505,617
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Tsen54 |
tRNA splicing endonuclease subunit 54 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
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NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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Tshr |
thyroid stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:8964822 PMID:12050212 PMID:25741868 |
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NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Tuba1a |
tubulin, alpha 1A |
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ISO |
DNA:missense mutation:exon: ClinVar Annotator: match by term: Global developmental delay |
ClinVar RGD |
PMID:18414213 PMID:25131622 PMID:25741868 PMID:30087272 PMID:30517687 PMID:30744660 PMID:31696992 PMID:32581362 PMID:33604570 PMID:22101068 More...
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RGD:12859087 |
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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G |
Tubb4a |
tubulin, beta 4A class IVa |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18851904 PMID:24526230 PMID:24785942 PMID:24850488 PMID:25741868 PMID:28275661 PMID:28492532 PMID:32581362 More...
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NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Ubap2l |
ubiquitin associated protein 2-like |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
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G |
Ube3a |
ubiquitin protein ligase E3A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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Ubr7 |
ubiquitin protein ligase E3 component n-recognin 7 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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Unc80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:15141358 PMID:15173253 PMID:16199547 PMID:16648375 PMID:20461111 PMID:24334764 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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G |
Wdfy4 |
WDFY family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30559488 |
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NCBI chr16:8,221,853...8,450,494
Ensembl chr16:8,221,719...8,450,491
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G |
Wdr37 |
WD repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 |
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NCBI chr17:61,637,258...61,703,664
Ensembl chr17:61,637,258...61,703,677
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G |
Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23176820 PMID:23687123 PMID:24368176 PMID:24621584 PMID:25356899 PMID:25741868 PMID:25741886 PMID:25741887 PMID:25744623 PMID:26790960 PMID:27030146 PMID:27652284 PMID:28492532 PMID:28554332 PMID:28932395 PMID:29171013 PMID:29981852 PMID:31487502 PMID:32382396 More...
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NCBI chr X:14,776,280...14,782,197
Ensembl chr X:14,776,293...14,782,202
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G |
Wdr62 |
WD repeat domain 62 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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G |
Wdr70 |
WD repeat domain 70 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:56,951,345...57,191,244
Ensembl chr 2:56,951,355...57,191,187
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G |
Wwox |
WW domain-containing oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16199547 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29852413 More...
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NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Yars1 |
tyrosyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:27633801 PMID:33490854 |
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NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
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G |
Zfp142 |
zinc finger protein 142 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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G |
Zfp819 |
zinc finger protein 819 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:94,027,347...94,085,649
Ensembl chr 1:94,035,679...94,048,760
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24721225 |
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NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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G |
Zmynd11 |
zinc finger, MYND-type containing 11 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741899 PMID:27334371 PMID:28191890 PMID:28933030 |
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NCBI chr17:60,542,669...60,631,913
Ensembl chr17:60,543,077...60,631,902
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Colec10 |
collectin subfamily member 10 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 3 |
OMIM ClinVar |
PMID:25741868 PMID:28301481 |
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NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
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G |
Colec11 |
collectin sub-family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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G |
Masp1 |
MBL associated serine protease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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G |
B2m |
beta-2 microglobulin |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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G |
Duox1 |
dual oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
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G |
Duox2 |
dual oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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G |
Duoxa1 |
dual oxidase maturation factor 1 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
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G |
Duoxa2 |
dual oxidase maturation factor 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
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Gatm |
glycine amidinotransferase |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
OMIM ClinVar |
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:17576681 PMID:20301745 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:26490222 PMID:27233232 PMID:27577545 PMID:28492532 PMID:29654216 More...
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NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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MGC105649 |
hypothetical LOC302884 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,719,952...109,723,507
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
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Patl2 |
PAT1 homolog 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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Shf |
Src homology 2 domain containing F |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
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G |
Slc28a2 |
solute carrier family 28 member 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
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G |
Slc30a4 |
solute carrier family 30 member 4 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
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G |
Sord |
sorbitol dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
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G |
Spata5l1 |
spermatogenesis associated 5-like 1 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
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G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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G |
Terb2 |
telomere repeat binding bouquet formation protein 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
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G |
Trim69 |
tripartite motif-containing 69 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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G |
Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
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ISO |
ClinVar Annotator: match by term: AMED syndrome, digenic |
OMIM ClinVar |
PMID:25741868 PMID:33355142 |
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NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
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ISO |
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC |
ClinVar |
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
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NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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G |
Kat6a |
lysine acetyltransferase 6A |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome |
OMIM ClinVar |
PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 PMID:27133397 PMID:28492532 PMID:30245513 PMID:31292255 PMID:32041641 PMID:33318932 PMID:34748993 More...
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NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 |
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NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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G |
Asxl3 |
ASXL transcriptional regulator 3 |
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ISO |
ClinVar Annotator: match by term: Bainbridge-Ropers syndrome |
OMIM ClinVar |
PMID:23383720 PMID:25326635 PMID:25741868 PMID:26640146 PMID:26647312 PMID:27075689 PMID:27901041 PMID:28100473 PMID:28492532 PMID:29305346 PMID:29367179 PMID:29628764 PMID:30564305 PMID:31180560 PMID:32581362 PMID:32860008 More...
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NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Thoc6 |
THO complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
OMIM ClinVar |
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 PMID:30476144 PMID:31421288 PMID:32790266 More...
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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Tet3 |
tet methylcytosine dioxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30167849 PMID:31928709 |
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NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Fam172a |
family with sequence similarity 172, member A |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
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Nr2f1 |
nuclear receptor subfamily 2, group F, member 1 |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
OMIM ClinVar |
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:25741879 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28492532 PMID:28963436 PMID:29410510 PMID:30755392 PMID:31393201 PMID:31729143 PMID:32275123 PMID:32407885 PMID:32712214 More...
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NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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Pou5f2 |
POU domain class 5, transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:7,907,504...7,908,738
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RGD1560883 |
similar to KIAA0825 protein |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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Rps23 |
ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:28257692 |
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NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
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Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29997391 PMID:30410802 PMID:31402629 More...
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NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
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Cyb561d2 |
cytochrome b561 family, member D2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay |
ClinVar |
PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29997391 PMID:30410802 More...
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NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
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Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
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ISO |
ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 More...
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NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
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Prdm13 |
PR/SET domain 13 |
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ISO |
ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism |
ClinVar OMIM |
PMID:34730112 |
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NCBI chr 5:35,220,815...35,233,641
Ensembl chr 5:35,225,435...35,232,881
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Oxr1 |
oxidation resistance 1 |
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ISO |
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OMIM |
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NCBI chr 7:72,528,782...72,965,666
Ensembl chr 7:72,528,786...72,965,666
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Ahdc1 |
AT hook, DNA binding motif, containing 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Atad3a |
ATPase family, AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31727539 |
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NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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Auts2 |
activator of transcription and developmental regulator AUTS2 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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Bcl11a |
BCL11 transcription factor A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcor |
BCL6 co-repressor |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:21735175 PMID:25326635 PMID:25741868 PMID:31474318 PMID:32581362 |
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:26235985 PMID:31474318 |
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NCBI chr X:9,479,532...9,493,455
Ensembl chr X:9,479,532...9,493,168
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Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:21931702 PMID:25741868 PMID:31474318 |
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Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Flg |
filaggrin |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:178,888,688...178,912,731
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Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31474318 |
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NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Fzd3 |
frizzled class receptor 3 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369
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Kctd3 |
potassium channel tetramerization domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25558065 |
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NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
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Kif4a |
kinesin family member 4A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr X:65,721,724...65,824,151
Ensembl chr X:65,721,779...65,824,139
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L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:7562969 PMID:8929944 PMID:16650080 PMID:25741868 PMID:31474318 |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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LOC690035 |
similar to Protein KIAA0586 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Macf1 |
microtubule-actin crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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Ophn1 |
oligophrenin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31474318 |
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NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
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Oxr1 |
oxidation resistance 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31785787 |
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NCBI chr 7:72,528,782...72,965,666
Ensembl chr 7:72,528,786...72,965,666
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Pla2g6 |
phospholipase A2 group VI |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:16783378 PMID:32581362 |
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NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Pmm2 |
phosphomannomutase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10571956 PMID:10602363 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11156536 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11589167 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16376131 PMID:16540464 PMID:16825284 PMID:17166182 PMID:17451957 PMID:18948042 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24033266 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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Rars2 |
arginyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 PMID:29881806 PMID:31429931 PMID:31474318 More...
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NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
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Sema6b |
semaphorin 6B |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 9:950,939...967,905
Ensembl chr 9:950,939...961,521
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Sepsecs |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
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Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:29276005 PMID:31474318 PMID:32710489 |
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NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
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Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 |
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NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 PMID:26865513 PMID:28492532 PMID:29186148 PMID:29761117 PMID:30174244 PMID:30266908 PMID:30540253 PMID:31221716 PMID:31474318 PMID:32112430 More...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tmlhe |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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Tsen54 |
tRNA splicing endonuclease subunit 54 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
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NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Tubb2a |
tubulin, beta 2A class IIa |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:24702957 PMID:25741868 PMID:31474318 |
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NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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Vldlr |
very low density lipoprotein receptor |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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G |
Wdr37 |
WD repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31780822 |
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NCBI chr17:61,637,258...61,703,664
Ensembl chr17:61,637,258...61,703,677
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Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM ClinVar |
PMID:25561519 PMID:25741868 PMID:28492532 |
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NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
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Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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G |
Arl11 |
ADP-ribosylation factor like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Bora |
bora, aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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G |
Cab39l |
calcium binding protein 39-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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G |
Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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G |
Ckap2 |
cytoskeleton associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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G |
Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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G |
Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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G |
Commd6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,190,251...48,229,906
Ensembl chr15:48,189,073...48,304,136
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G |
Dach1 |
dachshund family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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G |
Diaph3 |
diaphanous-related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,479,535...36,496,069
Ensembl chr15:36,479,534...36,495,697
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G |
Ebpl |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Fam124a |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
|
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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G |
Fndc3a |
fibronectin type III domain containing 3a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
|
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G |
Ints6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
|
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G |
Kcnrg |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,774,492...35,778,818
Ensembl chr15:35,774,326...35,779,415
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,800,077...79,806,064
Ensembl chr15:79,801,191...79,806,282
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G |
Klf12 |
KLF transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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G |
Klf5 |
KLF transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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G |
Klhl1 |
kelch-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:72,698,188...73,142,707
Ensembl chr15:72,699,094...73,142,594
|
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G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
|
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G |
Lmo7 |
LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,567,029...78,769,833
Ensembl chr15:78,567,023...78,769,783
|
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G |
LOC102554746 |
uncharacterized LOC102554746 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
|
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
|
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G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
|
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G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
|
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:75,786,992...75,797,631
Ensembl chr15:75,786,994...75,797,589
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
|
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G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
|
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G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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|
G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
|
|
G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
|
|
G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,198,475...55,203,021
Ensembl chr15:55,198,459...55,205,872
|
|
G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
|
|
G |
Phf11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
|
|
G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
|
|
G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
|
|
G |
Prr20e |
proline rich 20E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
|
|
G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
|
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
|
|
G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
|
|
G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
|
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G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
|
|
G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
|
|
G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
|
|
G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
|
|
G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
|
|
G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
|
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
|
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G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
|
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
|
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G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
|
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
|
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G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
|
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
|
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G |
Abr |
ABR activator of RhoGEF and GTPase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr10:61,262,516...61,461,331
Ensembl chr10:61,262,516...61,461,505
|
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G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
|
|
G |
Crk |
CRK proto-oncogene, adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406
|
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G |
Trarg1 |
trafficking regulator of GLUT4 (SLC2A4) 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494
|
|
G |
Ywhae |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
|
|
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G |
Cep19 |
centrosomal protein 19 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
|
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G |
Dlg1 |
discs large MAGUK scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
|
|
G |
Dynlt2b |
dynein light chain Tctex-type 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
|
|
G |
Fbxo45 |
F-box protein 45 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,551,430...68,567,053
Ensembl chr11:68,551,122...68,566,800
|
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G |
Meltf |
melanotransferrin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,884,446...68,906,300
Ensembl chr11:68,884,446...68,906,300
|
|
G |
Ncbp2 |
nuclear cap binding protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,821,026...68,829,863
Ensembl chr11:68,817,740...68,851,885
|
|
G |
Ncbp2as2 |
NCBP2 antisense 2 (head to head) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,829,947...68,830,715
Ensembl chr11:68,829,983...68,830,708
|
|
G |
Nrros |
negative regulator of reactive oxygen species |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,628,641...68,646,152
Ensembl chr11:68,628,712...68,646,142
|
|
G |
Pak2 |
p21 (RAC1) activated kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816
|
|
G |
Pcyt1a |
phosphate cytidylyltransferase 1A, choline |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357
|
|
G |
Pigx |
phosphatidylinositol glycan anchor biosynthesis, class X |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,687,126...68,703,067
Ensembl chr11:68,687,093...68,703,472
|
|
G |
Pigz |
phosphatidylinositol glycan anchor biosynthesis, class Z |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
|
|
NCBI chr11:68,831,790...68,835,647
|
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G |
Rnf168 |
ring finger protein 168 |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277
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G |
Senp5 |
SUMO specific peptidase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,784,699...68,819,569
Ensembl chr11:68,784,957...68,819,562
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G |
Slc51a |
solute carrier family 51 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
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G |
Smco1 |
single-pass membrane protein with coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,512,113...68,514,999
Ensembl chr11:68,509,150...68,515,003
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G |
Tfrc |
transferrin receptor |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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G |
Tm4sf19 |
transmembrane 4 L six family member 19 |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,372,945...68,386,192
Ensembl chr11:68,371,647...68,384,591
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G |
Tnk2 |
tyrosine kinase, non-receptor, 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
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G |
Ubxn7 |
UBX domain protein 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,427,896...68,460,100
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G |
Wdr53 |
WD repeat domain 53 |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,542,647...68,551,190
Ensembl chr11:68,542,650...68,551,112
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G |
Zdhhc19 |
zinc finger DHHC-type palmitoyltransferase 19 |
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ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,277,847...68,289,110
Ensembl chr11:68,277,848...68,288,954
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G |
Lrrc32 |
leucine rich repeat containing 32 |
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ISO |
ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:30976112 |
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NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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G |
Ankrd46 |
ankyrin repeat domain 46 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132
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G |
Atp6v1c1 |
ATPase H+ transporting V1 subunit C1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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G |
Azin1 |
antizyme inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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G |
Baalc |
BAALC binder of MAP3K1 and KLF4 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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G |
Cox6c |
cytochrome c oxidase subunit 6C |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
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G |
Cthrc1 |
collagen triple helix repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756
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G |
Dcaf13 |
DDB1 and CUL4 associated factor 13 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142
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G |
Dcstamp |
dendrocyte expressed seven transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
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G |
Dpys |
dihydropyrimidinase |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
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G |
Fbxo43 |
F-box protein 43 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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G |
Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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G |
Grhl2 |
grainyhead-like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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G |
Kcns2 |
potassium voltage-gated channel, modifier subfamily S, member 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422
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G |
Klf10 |
KLF transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994
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G |
Lrp12 |
LDL receptor related protein 12 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
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G |
Mir875 |
microRNA 875 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:28492532 |
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NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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G |
Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 | |